MOGAT1
protein-codingmonoacylglycerol O-acyltransferase 1, the group of Diacylglycerol O-acyltransferase 2 family
Gene summary
Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerols, the precursor of physiologically important lipids such as triacylglycerol and phospholipids (Yen et al., 2002 [PubMed 12077311]).[supplied by OMIM, Mar 2008]
- DGAT2L1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~38.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MOGAT1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_058165.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 57 | 1 | 58 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 58 | 0 | 2 | 60 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_477513.2 | 6 | MANE Select | |
| Ensembl | ENSP00000406674.3 | 6 | MANE Select | |
| Ensembl | ENSP00000656018.1 | 3 | Standard | |
| Ensembl | ENSP00000656019.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Glycerolipid metabolism - Homo sapiens (human)
- Triacylglyceride Synthesis
- Metabolism of lipids
- Metabolism
- Triglyceride biosynthesis
Biological Process
- glycerol metabolic process
- diacylglycerol biosynthetic process
- triglyceride biosynthetic process
Molecular Function
- 2-acylglycerol O-acyltransferase activity
- diacylglycerol O-acyltransferase activity
Cellular Component
- endoplasmic reticulum membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000446656
- Coding exons
- 6
- Length
- 38145
- Individuals with no LoFs
- 120836
- Homozygous LoFs
- 28
- Heterozygous LoFs
- 3774
- Defined
- 124638
- p
- 0.0154
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.465 | 191 | 174 | 1.10 | 0.00000847 | 2178 |
| Missense (PolyPhen) | 70 | 57.868 | 1.2096 | 807 | ||
| Synonymous | -1.56 | 78 | 62.4 | 1.25 | 0.00000293 | 639 |
| Loss of Function | -0.0362 | 15 | 14.8 | 1.01 | 7.76e-7 | 174 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0032 | 0.0032 | notable |
| Latino/Admixed American | 0.011 | 0.011 | notable |
| Ashkenazi Jewish | 0.024 | 0.023 | notable |
| East Asian | 0.036 | 0.036 | notable |
| Finnish | 0.011 | 0.011 | notable |
| European (Non-Finnish) | 0.018 | 0.018 | notable |
| South Asian | 0.0034 | 0.0034 | notable |
| Other | 0.018 | 0.018 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Catalyzes the formation of diacylglycerol from 2- monoacylglycerol and fatty acyl-CoA. Probably not involved in absorption of dietary fat in the small intestine (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.0862
Intolerance Scores
- LoFtool
- 0.621
- RVIS EVS
- 0.78
- RVIS percentile EVS
- 87.14
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0933
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |