MND1

Chr 4

meiotic nuclear divisions 1

Also known as: GAJ

NCBI Gene: 84057ENSG00000121211UniProt: Q9BWT6

The MND1 protein forms a heterodimeric complex with HOP2 that stimulates RAD51 and DMC1 recombinase activity, enabling proper homologous chromosome pairing and efficient cross-over during meiosis. Mutations cause primary ovarian insufficiency and male infertility with azoospermia, following an autosomal recessive inheritance pattern. The gene shows low constraint against loss-of-function variants, consistent with a recessive disorder affecting reproductive function.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
20
Pubs (1 yr)
28
P/LP submissions
0%
P/LP missense
1.40
LOEUF
DN
Mechanism· predicted
Clinical Summary— MND1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
28 unique Pathogenic / Likely Pathogenic· 35 VUS of 86 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.40LOEUF
pLI 0.000
Z-score 0.39
OE 0.89 (0.59–1.40)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.41Z-score
OE missense 0.88 (0.74–1.05)
89 obs / 100.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.89 (0.59–1.40)
0≤0.351.4
Missense OE0.88 (0.74–1.05)
0≤0.61.4
Synonymous OE0.67
0≤1.21.6
LoF obs/exp: 14 / 15.7Missense obs/exp: 89 / 100.6Syn Z: 1.44
DN
0.74top 25%
GOF
0.5464th %ile
LOF
0.2970th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

86 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic24
Likely Pathogenic4
VUS35
Likely Benign2
Benign2
24
Pathogenic
4
Likely Pathogenic
35
VUS
2
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
24
0
24
Likely Pathogenic
0
0
4
0
4
VUS
0
33
2
0
35
Likely Benign
0
1
1
0
2
Benign
0
0
1
1
2
Total03432167

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MND1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients