MUCL1

Chr 12

mucin like 1

Also known as: SBEM

NCBI Gene: 118430ENSG00000172551UniProt: Q96DR8

Predicted to be located in Golgi lumen and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.91
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

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.91LOEUF
pLI 0.000
Z-score -0.65
OE 1.33 (0.69–1.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.65Z-score
OE missense 1.25 (1.02–1.54)
65 obs / 51.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.33 (0.69–1.91)
0≤0.351.4
Missense OE?1.25 (1.02–1.54)
0≤0.61.4
Synonymous OE?1.71
0≤1.21.6
LoF obs/exp: 6 / 4.5Missense obs/exp: 65 / 51.9Syn Z: -2.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MUCL1 · 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 →

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