Mtrfr Gene Detail

Summary

• Symbol
  Mtrfr
• Name
  mitochondrial translation release factor in rescue
• Synonyms
  2810006K23Rik

• Feature Type
  protein coding gene
• IDs
  MGI:1919900
  NCBI Gene: 72650
• Alliance
  gene page
• Transcription Start Sites
  4 TSS

Location &
Maps

• Sequence Map
  Chr5:124466152-124479907 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 5, 63.52 cM, cytoband F
• Mapping Data
  2 experiments

Strain
Comparison

• SNPs within 2kb
  446 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1919900	protein coding gene	Chr5:124466152-124479915 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030092	protein coding gene	Chr5:128131222-128145754 (+)
A/J	MGP_AJ_G0030057	protein coding gene	Chr5:122798834-122813075 (+)
AKR/J	MGP_AKRJ_G0029993	protein coding gene	Chr5:126752467-126766213 (+)
BALB/cJ	MGP_BALBcJ_G0030068	protein coding gene	Chr5:124133086-124146800 (+)
C3H/HeJ	MGP_C3HHeJ_G0029785	protein coding gene	Chr5:127364589-127379002 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0030521	protein coding gene	Chr5:133091655-133106949 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027747	protein coding gene	Chr5:117329006-117342839 (+)
CAST/EiJ	MGP_CASTEiJ_G0029194	protein coding gene	Chr5:126481799-126495242 (+)
CBA/J	MGP_CBAJ_G0029755	protein coding gene	Chr5:138324752-138339295 (+)
DBA/2J	MGP_DBA2J_G0029905	protein coding gene	Chr5:122816687-122830414 (+)
FVB/NJ	MGP_FVBNJ_G0029861	protein coding gene	Chr5:121852778-121866476 (+)
LP/J	MGP_LPJ_G0029994	protein coding gene	Chr5:128679121-128694118 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029892	protein coding gene	Chr5:141900389-141914101 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030562	protein coding gene	Chr5:126367533-126381262 (+)
PWK/PhJ	MGP_PWKPhJ_G0028908	protein coding gene	Chr5:121636566-121650360 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028745	protein coding gene	Chr5:124014319-124028284 (+)
WSB/EiJ	MGP_WSBEiJ_G0029269	protein coding gene	Chr5:127040311-127055303 (+)

Homology

• Human Ortholog
  MTRFR, mitochondrial translation release factor in rescue

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  MTRFR, mitochondrial translation release factor in rescue
  
• Synonyms
  C12orf65, COXPD7, mtRF-R, SPG55
• Links
  HGNC:26784

  NCBI Gene ID: 91574

  neXtProt AC: NX_Q9H3J6

  UniProt: Q9H3J6

  
  
• Chr Location
  12q24.31; chr12:123232914-123258079 (+)  GRCh38

---

• MGI Vertebrate Homology
  Mtrfr stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: MTRFR
• Gene Tree
  Mtrfr
  

Human Diseases

• Diseases
  2 with human MTRFR associations

				Human Disease	Mouse Models
				combined oxidative phosphorylation deficiency 7 IDs combined oxidative phosphorylation deficiency 7       DOID:0111487 OMIM:613559 ORDO:254930
				hereditary spastic paraplegia 55 IDs hereditary spastic paraplegia 55       DOID:0110807 ICD10CM:G11.4 OMIM:615035 ORDO:320375

Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  11 phenotype references
  

• All Mutations and Alleles
  23
• Chemically induced (other)
  1
• Gene trapped
  20
• Radiation induced
  1
• Targeted
  1
• Genomic Mutations
  2 involving Mtrfr
• Find Mice (IMSR)
  12 strains or lines available

Gene Ontology
(GO)
Classifications

• All GO Annotations
  11
• GO References
  4

Expression

• Assay Results
  710
• Tissues
  2
• cDNA Data
  13
• Literature Summary
  1

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase mtrfr

Sequences &
Gene Models

• All Sequences
  36
• RefSeq
  4
• UniProt
  1
• CCDS
  CCDS51647.1, CCDS51648.1

• Ensembl
  ENSMUSG00000047635 (Evidence)
• NCBI Gene
  72650

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000047635	Ensembl Gene Model | MGI Sequence Detail	13756	C57BL/6J
transcript	ENSMUST00000077376	Ensembl | MGI Sequence Detail	1677	Not Applicable
polypeptide	ENSMUSP00000076594	Ensembl | MGI Sequence Detail	184	Not Applicable

Protein
Information

• UniProt
  1 Sequence
• Protein Ontology
  PR:000060077 mitochondrial translation release factor in rescue
  (term hierarchy)
• PDB
  2RSM
• InterPro Domains
  IPR052405 Mitochondrial Translation Release Factor
  IPR000352 Peptide chain release factor class I
  IPR045853 Peptide chain release factor class I superfamily

Molecular
Reagents

• All nucleic 15

  cDNA 13

  Primer pair 1

  Other 1

  
  

  Microarray probesets 2

Other
Accession IDs

MGI:6506258

References

• Summaries
  All 33

  Developmental Gene Expression 1

  Gene Ontology 4

  Phenotypes 11
• Earliest
  J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
• Latest
  J:160012 Jerome-Majewska LA, et al., The trafficking protein Tmed2/p24beta(1) is required for morphogenesis of the mouse embryo and placenta. Dev Biol. 2010 May 1;341(1):154-66

TSS for Mtrfr:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr48856	Chr5:124465694-124465705 (+)	-452 bp
Tssr48857	Chr5:124466146-124466157 (+)	0 bp
Tssr48858	Chr5:124466194-124466251 (+)	71 bp
Tssr48859	Chr5:124466258-124466272 (+)	113 bp