MOGAT3

monoacylglycerol O-acyltransferase 3, the group of Diacylglycerol O-acyltransferase 2 family

Basic information

Region (hg38): 7:101195007-101201038

Links

ENSG00000106384

∙ NCBI:346606 ∙ OMIM:610184 ∙ HGNC:23249 ∙ Uniprot:Q86VF5 ∙ 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 MOGAT3 gene.

not_specified (59 variants)
not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOGAT3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000178176.4. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				4 clinvar		4
missense			56 clinvar	2 clinvar		58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	56	6	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOGAT3	protein_coding	protein_coding	ENST00000223114	7	6015

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.84e-12	0.0165	125696	1	51	125748	0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.314	200	213	0.939	0.0000132	2193
Missense in Polyphen		69	69.453	0.99348		775
Synonymous	-1.07	105	92.0	1.14	0.00000622	701
Loss of Function	-0.420	17	15.2	1.12	6.51e-7	166

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000211	0.000210
Ashkenazi Jewish	0.00	0.00
East Asian	0.00104	0.00103
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000899	0.0000879
Middle Eastern	0.00104	0.00103
South Asian	0.000557	0.000555
Other	0.000328	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Catalyzes the formation of diacylglycerol from 2- monoacylglycerol and fatty acyl-CoA. Also able to catalyze the terminal step in triacylglycerol synthesis by using diacylglycerol and fatty acyl-CoA as substrates. Has a preference toward palmitoyl-CoA and oleoyl-CoA. May be involved in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. {ECO:0000269|PubMed:12618427}.;
Pathway: Glycerolipid metabolism - Homo sapiens (human);Fat digestion and absorption - Homo sapiens (human);Triacylglyceride Synthesis;Metabolism of lipids;Metabolism;Glycerophospholipid metabolism;Triglyceride biosynthesis;Triglyceride metabolism;triacylglycerol biosynthesis (Consensus)

Recessive Scores

pRec: 0.108

Intolerance Scores

loftool: 0.493
rvis_EVS: 0.22
rvis_percentile_EVS: 68.27

Haploinsufficiency Scores

pHI: 0.255
hipred: N
hipred_score: 0.153
ghis: 0.411

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.406

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Mgat3
Phenotype: homeostasis/metabolism phenotype; cellular phenotype; neoplasm; liver/biliary system phenotype; normal phenotype;

Gene ontology

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