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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense			22	1		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	4	0

Variants in MOGAT3

This is a list of pathogenic ClinVar variants found in the MOGAT3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-101195995-T-C		not specified	Uncertain significance (Jul 14, 2022)
7-101196017-G-C		not specified	Uncertain significance (Aug 17, 2021)
7-101196059-C-T		not specified	Uncertain significance (May 20, 2024)
7-101196076-T-A		not specified	Uncertain significance (May 08, 2023)
7-101196086-G-T		not specified	Uncertain significance (Apr 04, 2024)
7-101196194-G-A			Likely benign (Aug 01, 2022)
7-101196207-G-T		not specified	Uncertain significance (Jan 29, 2024)
7-101196248-G-A			Likely benign (Apr 01, 2023)
7-101196262-T-C		not specified	Uncertain significance (Nov 30, 2022)
7-101196300-T-G		not specified	Uncertain significance (Apr 22, 2022)
7-101196327-G-A		not specified	Uncertain significance (Jun 03, 2022)
7-101196349-T-C		not specified	Uncertain significance (Nov 13, 2023)
7-101198196-C-A		not specified	Uncertain significance (Mar 20, 2023)
7-101198273-C-T		not specified	Uncertain significance (Oct 06, 2021)
7-101198279-C-A		not specified	Uncertain significance (Nov 10, 2022)
7-101198309-C-G		not specified	Uncertain significance (Dec 22, 2023)
7-101198335-T-C		not specified	Uncertain significance (Jun 05, 2024)
7-101198362-A-G		not specified	Uncertain significance (Sep 16, 2021)
7-101198632-A-G		not specified	Uncertain significance (May 14, 2024)
7-101198653-C-G		not specified	Uncertain significance (Nov 14, 2023)
7-101198668-G-C		not specified	Uncertain significance (Nov 18, 2022)
7-101198694-C-T		not specified	Uncertain significance (Apr 19, 2024)
7-101200261-T-A		not specified	Uncertain significance (Mar 11, 2024)
7-101200274-C-T		not specified	Likely benign (Apr 05, 2023)
7-101200292-G-A		not specified	Uncertain significance (May 25, 2022)

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