MBOAT1

membrane bound O-acyltransferase domain containing 1, the group of Membrane bound O-acyltransferase family

Basic information

Region (hg38): 6:20099683-20212469

Previous symbols: [ "OACT1" ]

Links

ENSG00000172197 ∙ NCBI:154141 ∙ OMIM:611732 ∙ HGNC:21579 ∙ Uniprot:Q6ZNC8 ∙ 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 MBOAT1 gene.

• Inborn genetic diseases (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MBOAT1 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						0
missense			16	2		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	2	0

Variants in MBOAT1

This is a list of pathogenic ClinVar variants found in the MBOAT1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-20102305-T-C		not specified	Uncertain significance (Feb 10, 2022)
6-20109601-T-C		not specified	Uncertain significance (Sep 14, 2023)
6-20109623-C-T		not specified	Uncertain significance (May 23, 2023)
6-20109664-A-T		not specified	Uncertain significance (Dec 20, 2023)
6-20109674-C-T		not specified	Likely benign (Oct 29, 2021)
6-20109680-A-T		not specified	Uncertain significance (Apr 05, 2023)
6-20112888-T-G		not specified	Uncertain significance (Feb 12, 2024)
6-20112992-C-A		not specified	Uncertain significance (Aug 02, 2021)
6-20112992-C-G		not specified	Uncertain significance (Nov 14, 2023)
6-20112994-C-A		not specified	Uncertain significance (Jan 10, 2022)
6-20112994-C-T		not specified	Uncertain significance (Jan 02, 2024)
6-20112995-G-A		not specified	Uncertain significance (Jan 31, 2024)
6-20115301-T-C		not specified	Likely benign (Oct 03, 2022)
6-20115334-T-C		not specified	Uncertain significance (Feb 05, 2024)
6-20115342-C-T		not specified	Uncertain significance (Jun 22, 2021)
6-20115343-T-C		not specified	Uncertain significance (Sep 22, 2023)
6-20118441-A-G		not specified	Uncertain significance (Jul 09, 2021)
6-20118459-T-C		not specified	Uncertain significance (Jan 09, 2024)
6-20118462-G-A		not specified	Uncertain significance (Sep 26, 2023)
6-20124467-C-G		not specified	Uncertain significance (May 26, 2022)
6-20124467-C-T		not specified	Uncertain significance (Jan 08, 2024)
6-20124498-C-T		not specified	Uncertain significance (Dec 08, 2021)
6-20124584-T-C		not specified	Uncertain significance (Jan 23, 2023)
6-20126628-G-T		not specified	Uncertain significance (Sep 17, 2021)
6-20144261-T-C		not specified	Uncertain significance (Mar 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MBOAT1	protein_coding	protein_coding	ENST00000324607	13	111736

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.15e-12	0.394	125668	0	79	125747	0.000314

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0336	274	272	1.01	0.0000140	3218
Missense in Polyphen		105	102.55	1.0239		1256
Synonymous	0.726	94	103	0.909	0.00000559	961
Loss of Function	1.24	22	29.2	0.753	0.00000160	327

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000857	0.000856
Ashkenazi Jewish	0.00	0.00
East Asian	0.000220	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000319	0.000299
Middle Eastern	0.000220	0.000217
South Asian	0.000436	0.000425
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acyltransferase which mediates the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L- serine or LPS) into phosphatidylserine (1,2-diacyl-sn-glycero-3- phospho-L-serine or PS) (LPSAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. {ECO:0000269|PubMed:18772128}.
• Pathway: Glycerolipid metabolism - Homo sapiens (human);Glycerophospholipid metabolism - Homo sapiens (human);Regulation of Wnt-B-catenin Signaling by Small Molecule Compounds;Metabolism of lipids;Metabolism;CDP-diacylglycerol biosynthesis;triacylglycerol biosynthesis;Acyl chain remodelling of PS;Glycerophospholipid biosynthesis;Phospholipid metabolism;Acyl chain remodelling of PE (Consensus)

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.904
• rvis_EVS: 0.0000761
• rvis_percentile_EVS: 53.98

Haploinsufficiency Scores

• pHI: 0.129
• hipred: N
• hipred_score: 0.440
• ghis: 0.478

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mboat1

Gene ontology

• Biological process: phospholipid biosynthetic process;phosphatidylserine acyl-chain remodeling;phosphatidylethanolamine acyl-chain remodeling
• Cellular component: endoplasmic reticulum membrane;integral component of membrane
• Molecular function: 1-acylglycerol-3-phosphate O-acyltransferase activity;2-acylglycerol-3-phosphate O-acyltransferase activity