Incidental Mutation 'IGL00495:Mrrf'
ID 7225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrrf
Ensembl Gene ENSMUSG00000026887
Gene Name mitochondrial ribosome recycling factor
Synonyms 2400002D02Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # IGL00495
Quality Score
Status
Chromosome 2
Chromosomal Location 36026401-36080659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36031643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 53 (R53H)
Ref Sequence ENSEMBL: ENSMUSP00000123918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028250] [ENSMUST00000028251] [ENSMUST00000132042]
AlphaFold Q9D6S7
Predicted Effect probably benign
Transcript: ENSMUST00000028250
AA Change: R53H

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028250
Gene: ENSMUSG00000026887
AA Change: R53H

DomainStartEndE-ValueType
low complexity region 58 66 N/A INTRINSIC
Pfam:RRF 99 261 3.1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028251
SMART Domains Protein: ENSMUSP00000028251
Gene: ENSMUSG00000026889

DomainStartEndE-ValueType
RRM 26 102 1.5e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117540
Predicted Effect possibly damaging
Transcript: ENSMUST00000132042
AA Change: R53H

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200701
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ribosome recycling factor, which is a component of the mitochondrial translational machinery. The encoded protein, along with mitochondrial elongation factor 2, functions in ribosomal recycling at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,327,143 (GRCm39) T679A probably benign Het
Bhlhe40 T A 6: 108,638,139 (GRCm39) M33K probably benign Het
Cacna2d1 T C 5: 16,575,607 (GRCm39) S1059P probably benign Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Chrm2 A T 6: 36,500,355 (GRCm39) I71F possibly damaging Het
Cntnap5c A G 17: 58,469,272 (GRCm39) Q618R probably benign Het
Cog5 T A 12: 31,887,308 (GRCm39) N476K probably benign Het
Dhx36 G A 3: 62,377,979 (GRCm39) probably benign Het
Dnajb8 G T 6: 88,199,836 (GRCm39) R124L possibly damaging Het
Dnajc16 A T 4: 141,490,874 (GRCm39) probably null Het
Dzip1 T C 14: 119,120,806 (GRCm39) D717G probably benign Het
Eps15 G T 4: 109,166,346 (GRCm39) V80L probably damaging Het
Fmn1 G A 2: 113,274,812 (GRCm39) probably benign Het
Gm12185 A G 11: 48,798,688 (GRCm39) S602P probably damaging Het
Gm28539 T G 16: 18,773,530 (GRCm39) probably benign Het
Grm3 T C 5: 9,562,290 (GRCm39) N520S probably benign Het
Hivep2 A G 10: 14,017,988 (GRCm39) N1825S probably damaging Het
Igfbp2 A G 1: 72,888,287 (GRCm39) H143R probably benign Het
Igsf8 T G 1: 172,145,111 (GRCm39) V146G possibly damaging Het
Kif13b T G 14: 64,951,562 (GRCm39) S68A probably benign Het
Lrrc15 T A 16: 30,092,848 (GRCm39) I164F possibly damaging Het
Ms4a6d G A 19: 11,579,249 (GRCm39) T76I probably damaging Het
Pkd1l1 T C 11: 8,818,493 (GRCm39) R1332G probably benign Het
Plekha1 A G 7: 130,479,569 (GRCm39) Y29C probably damaging Het
Pnliprp1 A T 19: 58,723,162 (GRCm39) H221L probably damaging Het
Pomt2 T C 12: 87,171,630 (GRCm39) D380G probably damaging Het
Ppm1f C A 16: 16,728,835 (GRCm39) T79N possibly damaging Het
Ppp4r3b A C 11: 29,161,782 (GRCm39) T719P possibly damaging Het
Socs4 G A 14: 47,527,709 (GRCm39) V215I probably benign Het
Spg11 A G 2: 121,924,937 (GRCm39) probably null Het
Stk31 T A 6: 49,414,377 (GRCm39) C459S probably benign Het
Ttn A G 2: 76,539,546 (GRCm39) V26153A possibly damaging Het
Twf1 C T 15: 94,478,817 (GRCm39) probably benign Het
Vrk3 A T 7: 44,419,071 (GRCm39) K383M probably damaging Het
Wdr83 A T 8: 85,806,443 (GRCm39) N118K probably damaging Het
Other mutations in Mrrf
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0239:Mrrf UTSW 2 36,067,293 (GRCm39) splice site probably benign
R0370:Mrrf UTSW 2 36,067,125 (GRCm39) critical splice acceptor site probably null
R0671:Mrrf UTSW 2 36,043,710 (GRCm39) missense probably benign 0.01
R2517:Mrrf UTSW 2 36,079,109 (GRCm39) missense probably benign 0.07
R4823:Mrrf UTSW 2 36,038,042 (GRCm39) missense possibly damaging 0.93
R5552:Mrrf UTSW 2 36,037,973 (GRCm39) missense possibly damaging 0.85
R6056:Mrrf UTSW 2 36,067,233 (GRCm39) missense probably damaging 1.00
R8269:Mrrf UTSW 2 36,037,973 (GRCm39) missense possibly damaging 0.85
R8805:Mrrf UTSW 2 36,037,965 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20