MTRF1L

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

Basic information

Region (hg38): 6:152987362-153002709

Links

ENSG00000112031 ∙ NCBI:54516 ∙ OMIM:613542 ∙ HGNC:21051 ∙ Uniprot:Q9UGC7 ∙ 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 MTRF1L gene.

• not_specified (46 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTRF1L gene is commonly pathogenic or not. These statistics are base on transcript: NM_000019041.7. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			46			46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	46	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTRF1L	protein_coding	protein_coding	ENST00000367233	7	15324

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.96e-10	0.0861	125674	0	74	125748	0.000294

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.539	212	191	1.11	0.00000936	2438
Missense in Polyphen		74	68.906	1.0739		865
Synonymous	-0.102	77	75.9	1.01	0.00000381	745
Loss of Function	0.136	15	15.6	0.963	7.40e-7	215

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000573	0.000573
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000613	0.0000544
Finnish	0.000283	0.000277
European (Non-Finnish)	0.000398	0.000387
Middle Eastern	0.0000613	0.0000544
South Asian	0.000204	0.000196
Other	0.000340	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain termination codons UAA and UAG. {ECO:0000269|PubMed:17803939}.
• Pathway: Translation;Metabolism of proteins;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.957
• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.92

Haploinsufficiency Scores

• pHI: 0.160
• hipred: N
• hipred_score: 0.301
• ghis: 0.461

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00694

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mtrf1l

Gene ontology

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