MOGAT1
Chr 2monoacylglycerol O-acyltransferase 1
Also known as: DGAT2L, DGAT2L1, MGAT1
The encoded acyl-CoA:monoacylglycerol acyltransferase catalyzes the formation of diacylglycerol from monoacylglycerol and fatty acyl-CoA, serving as a key enzyme in triacylglycerol and phospholipid synthesis. Mutations cause autosomal recessive congenital diarrhea and malabsorption, primarily affecting the gastrointestinal system with onset in infancy. The gene shows minimal constraint against loss-of-function variants (very low pLI), but has moderate intolerance to loss-of-function variation overall (LOEUF 1.548).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
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
95 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 31 | 0 | 31 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 54 | 1 | 0 | 55 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 1 | 0 | 1 | 2 |
| Total | 0 | 55 | 33 | 1 | 89 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MOGAT1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools