TIMM10

translocase of inner mitochondrial membrane 10, the group of TIM22 complex

Basic information

Region (hg38): 11:57528464-57530803

Links

ENSG00000134809 ∙ NCBI:26519 ∙ OMIM:602251 ∙ HGNC:11814 ∙ Uniprot:P62072 ∙ 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 TIMM10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIMM10 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in TIMM10

This is a list of pathogenic ClinVar variants found in the TIMM10 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-57528748-T-C		not specified	Uncertain significance (Oct 29, 2021)
11-57528863-G-A		not specified	Uncertain significance (Jan 30, 2024)
11-57528893-A-G		not specified	Uncertain significance (Sep 16, 2021)
11-57528898-C-T		not specified	Uncertain significance (Mar 18, 2024)
11-57530174-C-A		not specified	Uncertain significance (Sep 27, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIMM10	protein_coding	protein_coding	ENST00000257245	2	2341

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00148	0.455	125656	0	25	125681	0.0000995

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.923	34	52.9	0.643	0.00000276	597
Missense in Polyphen		10	16.51	0.60568		204
Synonymous	-0.202	21	19.9	1.06	0.00000100	163
Loss of Function	-0.0594	4	3.87	1.03	2.49e-7	42

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000264	0.000264
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000123	0.000123
Middle Eastern	0.000109	0.000109
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. {ECO:0000269|PubMed:14726512}.
• Pathway: Metabolism of proteins;Mitochondrial protein import (Consensus)

Recessive Scores

• pRec: 0.130

Intolerance Scores

• loftool: 0.671
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.63

Haploinsufficiency Scores

• pHI: 0.201
• hipred: Y
• hipred_score: 0.684
• ghis: 0.642

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.215

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Timm10

Gene ontology

• Biological process: protein targeting to mitochondrion;sensory perception of sound;protein insertion into mitochondrial inner membrane;chaperone-mediated protein transport
• Cellular component: mitochondrion;mitochondrial inner membrane;TIM23 mitochondrial import inner membrane translocase complex;mitochondrial intermembrane space;mitochondrial intermembrane space protein transporter complex;TIM22 mitochondrial import inner membrane insertion complex
• Molecular function: transporter activity;protein binding;zinc ion binding;protein transporter activity;protein homodimerization activity;chaperone binding