MGLL
monoglyceride lipase, the group of Lipases
Basic information
Region (hg38): 3:127689062-128052190
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (29 variants)
- MGLL-related_disorder (9 variants)
- not_provided (4 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. These statistics are base on transcript: NM_000007283.7. 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 | |||||
| missense | 28 | 34 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 28 | 6 | 4 |
Loading clinvar variants...
GnomAD
Source:
| 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:
- 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