MTRF1

mitochondrial translation release factor 1, the group of Mitochondrial translation release factor family

Basic information

Region (hg38): 13:41216369-41263577

Links

ENSG00000120662 ∙ NCBI:9617 ∙ OMIM:604601 ∙ HGNC:7469 ∙ Uniprot:O75570 ∙ 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 MTRF1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTRF1 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					3	3
missense			19	2	1	22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	2	4

Variants in MTRF1

This is a list of pathogenic ClinVar variants found in the MTRF1 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-41217131-A-T		not specified	Uncertain significance (Jan 19, 2024)
13-41217174-A-C			Benign (Mar 02, 2018)
13-41223266-C-T		not specified	Uncertain significance (Jul 19, 2023)
13-41223293-C-T		not specified	Uncertain significance (Feb 27, 2024)
13-41226460-C-T		not specified	Uncertain significance (Dec 21, 2023)
13-41226461-G-A		not specified	Likely benign (Aug 02, 2023)
13-41226509-G-A		not specified	Uncertain significance (Mar 01, 2023)
13-41226556-T-G		not specified	Uncertain significance (May 31, 2023)
13-41233983-C-T		not specified	Uncertain significance (Sep 14, 2023)
13-41240298-C-T		not specified	Uncertain significance (Jan 24, 2024)
13-41240311-G-A		not specified	Uncertain significance (Dec 27, 2023)
13-41240402-G-A			Benign (May 02, 2018)
13-41240420-A-T		not specified	Uncertain significance (Jan 04, 2024)
13-41252678-A-G		not specified	Uncertain significance (Jul 05, 2023)
13-41252728-C-T		not specified	Uncertain significance (Sep 16, 2021)
13-41252956-A-T			Benign (Mar 02, 2018)
13-41252973-C-T		not specified	Uncertain significance (Feb 15, 2023)
13-41260503-T-C			Benign (Jun 07, 2017)
13-41260526-G-C		not specified	Uncertain significance (Sep 14, 2022)
13-41260600-C-T		not specified	Uncertain significance (Apr 15, 2024)
13-41260637-G-T		not specified	Uncertain significance (Sep 01, 2021)
13-41260660-C-T		not specified	Likely benign (May 17, 2023)
13-41260690-T-C		not specified	Uncertain significance (Jun 11, 2024)
13-41260756-T-A		not specified	Uncertain significance (Jun 06, 2023)
13-41260780-C-A		not specified	Uncertain significance (Nov 09, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTRF1	protein_coding	protein_coding	ENST00000379480	9	47238

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.62e-10	0.821	125667	0	78	125745	0.000310

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.596	213	239	0.891	0.0000124	2932
Missense in Polyphen		67	82.438	0.81273		994
Synonymous	0.697	76	84.1	0.903	0.00000425	794
Loss of Function	1.69	20	30.0	0.667	0.00000186	299

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000297	0.000297
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.000186	0.000185
European (Non-Finnish)	0.000485	0.000484
Middle Eastern	0.000381	0.000381
South Asian	0.0000328	0.0000327
Other	0.000492	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain non-cognate termination stop codons AGG and AGA.

Recessive Scores

• pRec: 0.0975

Intolerance Scores

• loftool: 0.938
• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.98

Haploinsufficiency Scores

• pHI: 0.0786
• hipred: N
• hipred_score: 0.204
• ghis: 0.452

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.726

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mtrf1

Gene ontology

• Biological process: translational termination;regulation of translational termination;mitochondrial translational termination
• Cellular component: mitochondrion
• Molecular function: translation release factor activity;translation release factor activity, codon specific;ribosome binding