MNS1

Chr 15

meiosis specific nuclear structural 1

Also known as: CFAP127, HTX9, SPATA40

This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq, Oct 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHeterotaxy, visceral, 9, autosomal, with male infertility

Clinical highlights

Gene–disease validity (ClinGen)
0
Active trials
14
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.32
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.32LOEUF
pLI 0.000
Z-score 0.07
OE 0.99 (0.74–1.32)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.44Z-score
OE missense 1.08 (0.97–1.19)
270 obs / 250.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.99 (0.74–1.32)
0≤0.351.4
Missense OE?1.08 (0.97–1.19)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 32 / 32.4Missense obs/exp: 270 / 250.5Syn Z: -0.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MNS1 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →