MTMR11

myotubularin related protein 11, the group of Myotubularins

Basic information

Region (hg38): 1:149928651-149936879

Links

ENSG00000014914 ∙ NCBI:10903 ∙ ∙ HGNC:24307 ∙ Uniprot:A4FU01 ∙ 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 MTMR11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTMR11 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			47			47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	47	0	0

Variants in MTMR11

This is a list of pathogenic ClinVar variants found in the MTMR11 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-149929140-C-A		not specified	Uncertain significance (Jun 06, 2023)
1-149929203-C-T		not specified	Uncertain significance (Jul 05, 2023)
1-149929700-G-T		not specified	Uncertain significance (Apr 26, 2024)
1-149929708-G-C		not specified	Uncertain significance (Feb 01, 2023)
1-149929756-G-C		not specified	Uncertain significance (May 18, 2022)
1-149929780-G-C		not specified	Uncertain significance (Apr 28, 2023)
1-149929784-G-C		not specified	Uncertain significance (Dec 13, 2023)
1-149929819-G-A		not specified	Uncertain significance (Dec 16, 2023)
1-149929829-G-A		not specified	Uncertain significance (Jul 19, 2022)
1-149929841-G-A		not specified	Uncertain significance (Oct 06, 2022)
1-149930797-C-T		not specified	Uncertain significance (Jan 20, 2023)
1-149931331-C-T		not specified	Uncertain significance (Dec 21, 2022)
1-149931351-A-C		not specified	Uncertain significance (Mar 22, 2023)
1-149931420-C-G		not specified	Uncertain significance (Dec 13, 2021)
1-149931423-C-T		not specified	Uncertain significance (Jul 19, 2023)
1-149931961-C-T		not specified	Uncertain significance (Aug 15, 2023)
1-149931986-A-C		not specified	Uncertain significance (Mar 16, 2022)
1-149932003-C-T		not specified	Uncertain significance (May 20, 2024)
1-149932285-G-A		not specified	Uncertain significance (Apr 28, 2022)
1-149932297-G-A		not specified	Uncertain significance (Nov 18, 2022)
1-149932307-A-G		not specified	Uncertain significance (May 09, 2023)
1-149933469-C-T		not specified	Uncertain significance (Jul 27, 2022)
1-149933507-G-C		not specified	Uncertain significance (Apr 05, 2023)
1-149933617-C-A		not specified	Uncertain significance (Mar 01, 2023)
1-149933638-C-G		not specified	Uncertain significance (Feb 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTMR11	protein_coding	protein_coding	ENST00000439741	17	8249

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.77e-23	0.0176	125489	0	259	125748	0.00103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.985	343	398	0.861	0.0000219	4550
Missense in Polyphen		106	134.1	0.79045		1510
Synonymous	-0.728	161	150	1.08	0.00000773	1460
Loss of Function	1.07	39	46.9	0.832	0.00000277	433

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00129	0.00129
Ashkenazi Jewish	0.00	0.00
East Asian	0.00603	0.00605
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000633	0.000615
Middle Eastern	0.00603	0.00605
South Asian	0.00130	0.00127
Other	0.000502	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable pseudophosphatase. Contains a Glu residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential). {ECO:0000305}.

Recessive Scores

• pRec: 0.141

Intolerance Scores

• loftool: 0.179
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.75

Haploinsufficiency Scores

• pHI: 0.106
• hipred: N
• hipred_score: 0.199
• ghis: 0.473

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.127

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mtmr11

Gene ontology

• Cellular component: cytoplasm;extracellular exosome