Oocyte/zygote/embryo maturation arrest 20

Summary

Oocyte/zygote/embryo maturation arrest 20 (MONDO:0957278) is a disease caused by MOS (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: MOS (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 12

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	oocyte/zygote/embryo maturation arrest 20
Mondo ID	MONDO:0957278
OMIM	620383
UMLS	C5830539
MedGen	1841175
Is cancer (heuristic)	no

Data availability: 12 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inherited oocyte maturation defect › oocyte/zygote/embryo maturation arrest 20

Related subtypes (23): female infertility due to zona pellucida defect, oocyte maturation defect 5, oocyte maturation defect 2, oocyte maturation defect 3, oocyte maturation defect 4, oocyte maturation defect 11, oocyte maturation defect 12, oocyte maturation defect 10, oocyte maturation defect 6, oocyte maturation defect 7, oocyte maturation defect 8, oocyte maturation defect 9, oocyte maturation defect 13, oocyte maturation defect 14, oocyte/zygote/embryo maturation arrest 17, oocyte/zygote/embryo maturation arrest 18, oocyte/zygote/embryo maturation arrest 19, oocyte/zygote/embryo maturation arrest 21, oocyte/zygote/embryo maturation arrest 22, oocyte/zygote/embryo maturation arrest 23, oocyte/zygote/embryo maturation arrest 24, oocyte/zygote/embryo maturation arrest 25, oocyte/zygote/embryo maturation arrest 16

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

12 retrieved; paginated sample, class counts are floors:

7 pathogenic, 3 uncertain significance, 2 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2502325	NM_005372.1(MOS):c.285C>A (p.Asn95Lys)	MOS	Pathogenic	no assertion criteria provided
2502326	NM_005372.1(MOS):c.416T>C (p.Met139Thr)	MOS	Pathogenic	no assertion criteria provided
2502327	NM_005372.1(MOS):c.737G>A (p.Arg246His)	MOS	Pathogenic	no assertion criteria provided
2502329	NM_005372.1(MOS):c.960C>A (p.Cys320Ter)	MOS	Pathogenic	no assertion criteria provided
2502331	NM_005372.1(MOS):c.956G>A (p.Arg319His)	MOS	Pathogenic	no assertion criteria provided
2502332	NM_005372.1(MOS):c.791C>G (p.Ser264Cys)	MOS	Pathogenic	no assertion criteria provided
2502334	NM_005372.1(MOS):c.591T>G (p.Ile197Met)	MOS	Pathogenic	no assertion criteria provided
2502330	NM_005372.1(MOS):c.467del (p.Gly156fs)	MOS	Likely pathogenic	criteria provided, single submitter
4849341	NM_005372.1(MOS):c.755_759del (p.Lys252fs)	MOS	Likely pathogenic	criteria provided, single submitter
2502328	NM_005372.1(MOS):c.875C>T (p.Ala292Val)	MOS	Uncertain significance	criteria provided, single submitter
2502333	NM_005372.1(MOS):c.596A>T (p.His199Leu)	MOS	Uncertain significance	criteria provided, single submitter
4079286	NM_005372.1(MOS):c.963G>A (p.Trp321Ter)	MOS	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
MOS	Strong	Autosomal recessive	oocyte/zygote/embryo maturation arrest 20	2

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MOS	HGNC:7199	ENSG00000172680	P00540	Proto-oncogene serine/threonine-protein kinase mos	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MOS	Proto-oncogene serine/threonine-protein kinase mos	Serine/threonine kinase involved in the regulation of MAPK signaling.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Kinase	1	27.7×	0.036

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MOS	Kinase	yes	2.7.10.2	Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf

Expression context

Cohort genes with no expression data: 0.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	1
broad (>20)	0
unknown	0

Top tissues across cohort

Tissue	Cohort genes
oocyte	1
pancreatic ductal cell	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MOS	17		yes	oocyte, secondary oocyte, pancreatic ductal cell

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MOS	1,342

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
MOS	P00540	80.98

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
negative regulation of metaphase/anaphase transition of meiotic cell cycle	1	16852.0×	6e-04	MOS
establishment of meiotic spindle orientation	1	4213.0×	0.001	MOS
meiotic spindle organization	1	2407.4×	0.001	MOS
regulation of meiotic nuclear division	1	2407.4×	0.001	MOS
oocyte maturation	1	601.9×	0.003	MOS
MAPK cascade	1	153.2×	0.011	MOS
chromatin organization	1	99.1×	0.014	MOS
positive regulation of ERK1 and ERK2 cascade	1	85.1×	0.014	MOS
positive regulation of MAPK cascade	1	80.6×	0.014	MOS
signal transduction	1	16.1×	0.062	MOS

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MOS	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
MOS	4	Binding:4

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
MOS	2.7.10.2	non-specific protein-tyrosine kinase

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	1	MOS
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
MOS	4	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.