MRRF

mitochondrial ribosome recycling factor

Basic information

Region (hg38): 9:122264603-122331337

Links

ENSG00000148187 ∙ NCBI:92399 ∙ OMIM:604602 ∙ HGNC:7234 ∙ Uniprot:Q96E11 ∙ 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 MRRF gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRRF 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			15	2		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	2	0

Variants in MRRF

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

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

Position	Type	Phenotype	Significance	ClinVar
9-122270931-A-G		not specified	Likely benign (Jun 28, 2024)
9-122270937-C-T		not specified	Likely benign (Jun 21, 2023)
9-122270970-T-G		Myoepithelial tumor	Uncertain significance (Nov 01, 2022)
9-122271022-A-G		not specified	Uncertain significance (Jun 17, 2024)
9-122271033-T-A		not specified	Uncertain significance (Jan 03, 2024)
9-122280472-G-A		not specified	Uncertain significance (Dec 21, 2022)
9-122280551-C-T		not specified	Uncertain significance (Jan 03, 2025)
9-122280577-C-T		not specified	Uncertain significance (Sep 17, 2021)
9-122280590-C-G		not specified	Uncertain significance (Jan 04, 2022)
9-122285240-A-G		not specified	Uncertain significance (Jan 22, 2025)
9-122285247-C-T		not specified	Uncertain significance (Dec 14, 2024)
9-122285267-A-T		not specified	Uncertain significance (Jun 22, 2021)
9-122291758-G-A		not specified	Uncertain significance (Jun 27, 2022)
9-122291759-C-T		not specified	Uncertain significance (Jan 26, 2025)
9-122291782-A-G		not specified	Uncertain significance (Oct 06, 2023)
9-122291795-T-C		not specified	Uncertain significance (Nov 11, 2024)
9-122291819-T-G		not specified	Uncertain significance (Apr 04, 2024)
9-122313277-C-T		not specified	Uncertain significance (Jan 23, 2025)
9-122313285-G-A		not specified	Uncertain significance (Mar 30, 2024)
9-122313301-G-A		not specified	Uncertain significance (Jun 12, 2023)
9-122313321-A-G		not specified	Uncertain significance (Feb 05, 2015)
9-122313340-C-T		not specified	Uncertain significance (Sep 21, 2023)
9-122322573-C-G		not specified	Uncertain significance (Dec 31, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRRF	protein_coding	protein_coding	ENST00000344641	6	58862

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.41e-7	0.225	125696	0	52	125748	0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0683	138	140	0.984	0.00000766	1722
Missense in Polyphen		42	47.024	0.89316		621
Synonymous	-0.365	54	50.7	1.07	0.00000271	510
Loss of Function	0.144	10	10.5	0.952	4.53e-7	151

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000213	0.000213
Ashkenazi Jewish	0.00	0.00
East Asian	0.000979	0.000979
Finnish	0.00	0.00
European (Non-Finnish)	0.000238	0.000237
Middle Eastern	0.000979	0.000979
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Responsible for the release of ribosomes from messenger RNA at the termination of protein biosynthesis. May increase the efficiency of translation by recycling ribosomes from one round of translation to another (By similarity). {ECO:0000250}.
• Pathway: Translation;Metabolism of proteins;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

• pRec: 0.225

Intolerance Scores

• loftool: 0.950
• rvis_EVS: 0.19
• rvis_percentile_EVS: 67.03

Haploinsufficiency Scores

• pHI: 0.228
• hipred: N
• hipred_score: 0.251
• ghis: 0.541

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.829

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrrf

Gene ontology

• Biological process: translation;ribosome disassembly;mitochondrial translational termination
• Cellular component: mitochondrion;mitochondrial matrix
• Molecular function: ribosomal large subunit binding