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.

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.

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					1	1
missense			25		1	26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	0	2

Variants in MOGAT1

This is a list of pathogenic ClinVar variants found in the MOGAT1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-222671813-A-G		not specified	Uncertain significance (Apr 09, 2024)
2-222671850-T-C		not specified	Uncertain significance (Jan 30, 2024)
2-222671862-T-G		not specified	Uncertain significance (Sep 17, 2021)
2-222671876-C-A		not specified	Uncertain significance (Sep 17, 2021)
2-222688407-C-G		not specified	Uncertain significance (Jan 03, 2024)
2-222688417-G-A		not specified	Uncertain significance (May 12, 2024)
2-222688455-G-T		not specified	Uncertain significance (Jun 09, 2022)
2-222688464-C-A		not specified	Uncertain significance (Jun 05, 2024)
2-222688481-T-C		not specified	Uncertain significance (Sep 29, 2023)
2-222689315-T-A		not specified	Uncertain significance (Jun 28, 2023)
2-222689318-C-A		not specified	Uncertain significance (Mar 11, 2024)
2-222689382-G-T		not specified	Uncertain significance (Sep 20, 2023)
2-222689414-C-G		not specified	Uncertain significance (Feb 13, 2024)
2-222689414-C-T			Benign (Jun 05, 2018)
2-222689440-C-G		not specified	Uncertain significance (May 31, 2023)
2-222694392-C-A			Benign (Jun 05, 2018)
2-222694401-T-C		not specified	Uncertain significance (Jul 25, 2023)
2-222694416-G-A		not specified	Uncertain significance (Nov 15, 2021)
2-222694469-C-T		not specified	Uncertain significance (Jan 27, 2022)
2-222694480-G-T		not specified	Uncertain significance (Dec 01, 2022)
2-222694496-C-T		not specified	Uncertain significance (Sep 27, 2021)
2-222694502-C-T		not specified	Uncertain significance (Oct 26, 2021)
2-222694503-G-A		not specified	Uncertain significance (Mar 01, 2024)
2-222694509-G-A		not specified	Uncertain significance (Oct 02, 2023)
2-222694534-T-A		not specified	Uncertain significance (Nov 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOGAT1	protein_coding	protein_coding	ENST00000446656	6	38145

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.57e-10	0.0599	120836	28	3774	124638	0.0154

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.465	191	174	1.10	0.00000847	2178
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0144	0.0144
Ashkenazi Jewish	0.0236	0.0233
East Asian	0.0363	0.0363
Finnish	0.0111	0.0111
European (Non-Finnish)	0.0185	0.0183
Middle Eastern	0.0363	0.0363
South Asian	0.00344	0.00337
Other	0.0184	0.0180

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

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

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

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