MGLL

monoglyceride lipase, the group of Lipases

Basic information

Region (hg38): 3:127689061-128052190

Links

ENSG00000074416 ∙ NCBI:11343 ∙ OMIM:609699 ∙ HGNC:17038 ∙ Uniprot:Q99685 ∙ 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 MGLL gene.

• Inborn genetic diseases (41 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MGLL 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					2	2
missense			10	1	1	12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			31	2		33
Total	0	0	41	3	3

Variants in MGLL

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

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

Position	Type	Phenotype	Significance	ClinVar
3-127692221-C-T		MGLL-related disorder	Likely benign (Mar 12, 2019)
3-127692227-C-T		not specified	Uncertain significance (Jun 06, 2023)
3-127692267-G-A		MGLL-related disorder	Likely benign (Jul 01, 2019)
3-127694987-G-C		not specified	Uncertain significance (Sep 27, 2022)
3-127695035-A-C		not specified	Uncertain significance (Dec 03, 2021)
3-127695038-T-C		MGLL-related disorder	Benign (Jan 02, 2020)
3-127695043-G-A		not specified	Uncertain significance (Mar 21, 2023)
3-127695094-C-T		not specified	Uncertain significance (Dec 21, 2023)
3-127695099-T-G		not specified	Uncertain significance (Mar 23, 2023)
3-127695112-C-T		not specified	Uncertain significance (Sep 29, 2023)
3-127695133-C-T		MGLL-related disorder	Likely benign (Mar 29, 2019)
3-127695187-C-T		not specified	Uncertain significance (Feb 01, 2023)
3-127721107-C-T		not specified	Uncertain significance (Nov 09, 2023)
3-127721125-C-T		MGLL-related disorder	Benign/Likely benign (Mar 15, 2019)
3-127721151-C-T			Likely benign (Nov 01, 2023)
3-127722447-G-A		not specified	Uncertain significance (Mar 01, 2023)
3-127722510-C-T		MGLL-related disorder	Likely benign (Jul 06, 2022)
3-127781796-G-A		MGLL-related disorder	Benign (Sep 30, 2019)
3-127781841-C-G		not specified	Uncertain significance (Dec 26, 2023)
3-127781859-G-A		MGLL-related disorder	Benign/Likely benign (Mar 11, 2019)
3-127821687-G-C		MGLL-related disorder	Likely benign (Mar 20, 2019)
3-127821725-A-C		not specified	Uncertain significance (Dec 02, 2021)
3-127821787-G-A		not specified	Uncertain significance (Apr 07, 2023)
3-127821790-G-A		not specified	Uncertain significance (Dec 03, 2021)
3-127821802-G-A		MGLL-related disorder	Benign (Nov 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MGLL	protein_coding	protein_coding	ENST00000265052	8	134143

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0200	0.964	124790	0	5	124795	0.0000200

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.07	148	189	0.782	0.0000119	2024
Missense in Polyphen		26	50.386	0.51601		552
Synonymous	0.492	75	80.6	0.930	0.00000579	648
Loss of Function	2.10	5	13.2	0.378	5.66e-7	160

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.00000889	0.00000883
Middle Eastern	0.000111	0.000111
South Asian	0.0000654	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Converts monoacylglycerides to free fatty acids and glycerol. Hydrolyzes the endocannabinoid 2-arachidonoylglycerol, and thereby contributes to the regulation of endocannabinoid signaling, nociperception and perception of pain (By similarity). Regulates the levels of fatty acids that serve as signaling molecules and promote cancer cell migration, invasion and tumor growth (PubMed:20079333). {ECO:0000250|UniProtKB:O35678, ECO:0000269|PubMed:20079333}.
• Pathway: Regulation of lipolysis in adipocytes - Homo sapiens (human);Glycerolipid metabolism - Homo sapiens (human);Retrograde endocannabinoid signaling - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Lipid storage and perilipins in skeletal muscle;Signaling by GPCR;Signal Transduction;Metabolism of lipids;Acyl chain remodeling of DAG and TAG;Metabolism;Effects of PIP2 hydrolysis;Platelet activation, signaling and aggregation;Triglyceride catabolism;Triglyceride metabolism;Arachidonate production from DAG;Hemostasis;triacylglycerol degradation;Glycerophospholipid biosynthesis;Phospholipid metabolism;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.214

Intolerance Scores

• loftool: 0.236
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.75

Haploinsufficiency Scores

• pHI: 0.0976
• hipred: N
• hipred_score: 0.312
• ghis: 0.525

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.973

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mgll
• Phenotype: homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype

Gene ontology

• Biological process: lipid metabolic process;fatty acid biosynthetic process;inflammatory response;regulation of signal transduction;arachidonic acid metabolic process;triglyceride catabolic process;acylglycerol acyl-chain remodeling;acylglycerol catabolic process;regulation of inflammatory response;regulation of sensory perception of pain;regulation of endocannabinoid signaling pathway
• Cellular component: nucleoplasm;endoplasmic reticulum membrane;cytosol;plasma membrane;membrane;extrinsic component of membrane
• Molecular function: lysophospholipase activity;protein homodimerization activity;acylglycerol lipase activity