GeneBe

MOGAT1

monoacylglycerol O-acyltransferase 1, the group of Diacylglycerol O-acyltransferase 2 family

Basic information

Region (hg38): 2:222671658-222709930

Previous symbols: [ "DGAT2L1" ]

Links

ENSG00000124003 ∙ NCBI:116255 ∙ OMIM:610268 ∙ HGNC:18210 ∙ Uniprot:Q96PD6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MOGAT1 gene.

  • not_specified (52 variants)
  • not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOGAT1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000058165.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
 1
missense
52
clinvar
1
clinvar
 53
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 52 0 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MOGAT1protein_codingprotein_codingENST00000446656 638145
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.57e-100.05991208362837741246380.0154
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4651911741.100.000008472178
Missense in Polyphen7057.8681.2096807
Synonymous-1.567862.41.250.00000293639
Loss of Function-0.03621514.81.017.76e-7174

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.01440.0144
Ashkenazi Jewish0.02360.0233
East Asian0.03630.0363
Finnish0.01110.0111
European (Non-Finnish)0.01850.0183
Middle Eastern0.03630.0363
South Asian0.003440.00337
Other0.01840.0180

dbNSFP

Source: dbNSFP

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}.;
Pathway
Glycerolipid metabolism - Homo sapiens (human);Triacylglyceride Synthesis;Metabolism of lipids;Metabolism;Triglyceride biosynthesis;Triglyceride metabolism;triacylglycerol biosynthesis (Consensus)

Recessive Scores

pRec
0.0862

Intolerance Scores

loftool
0.621
rvis_EVS
0.78
rvis_percentile_EVS
87.14

Haploinsufficiency Scores

pHI
0.154
hipred
N
hipred_score
0.187
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0933

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mogat1
Phenotype
growth/size/body region phenotype; homeostasis/metabolism phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Gene ontology

Biological process
glycerol metabolic process;diacylglycerol biosynthetic process;triglyceride biosynthetic process
Cellular component
endoplasmic reticulum membrane;integral component of membrane
Molecular function
2-acylglycerol O-acyltransferase activity;diacylglycerol O-acyltransferase activity