Incidental Mutation 'IGL00495:Mrrf'
ID7225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrrf
Ensembl Gene ENSMUSG00000026887
Gene Namemitochondrial ribosome recycling factor
Synonyms2400002D02Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.373) question?
Stock #IGL00495
Quality Score
Status
Chromosome2
Chromosomal Location36136389-36190647 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 36141631 bp
ZygosityHeterozygous
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]
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: 49,415,843 T679A probably benign Het
Bhlhe40 T A 6: 108,661,178 M33K probably benign Het
Cacna2d1 T C 5: 16,370,609 S1059P probably benign Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Chrm2 A T 6: 36,523,420 I71F possibly damaging Het
Cntnap5c A G 17: 58,162,277 Q618R probably benign Het
Cog5 T A 12: 31,837,309 N476K probably benign Het
Dhx36 G A 3: 62,470,558 probably benign Het
Dnajb8 G T 6: 88,222,854 R124L possibly damaging Het
Dnajc16 A T 4: 141,763,563 probably null Het
Dzip1 T C 14: 118,883,394 D717G probably benign Het
Eps15 G T 4: 109,309,149 V80L probably damaging Het
Fmn1 G A 2: 113,444,467 probably benign Het
Gm12185 A G 11: 48,907,861 S602P probably damaging Het
Gm28539 T G 16: 18,954,780 probably benign Het
Grm3 T C 5: 9,512,290 N520S probably benign Het
Hivep2 A G 10: 14,142,244 N1825S probably damaging Het
Igfbp2 A G 1: 72,849,128 H143R probably benign Het
Igsf8 T G 1: 172,317,544 V146G possibly damaging Het
Kif13b T G 14: 64,714,113 S68A probably benign Het
Lrrc15 T A 16: 30,274,030 I164F possibly damaging Het
Ms4a6d G A 19: 11,601,885 T76I probably damaging Het
Pkd1l1 T C 11: 8,868,493 R1332G probably benign Het
Plekha1 A G 7: 130,877,839 Y29C probably damaging Het
Pnliprp1 A T 19: 58,734,730 H221L probably damaging Het
Pomt2 T C 12: 87,124,856 D380G probably damaging Het
Ppm1f C A 16: 16,910,971 T79N possibly damaging Het
Ppp4r3b A C 11: 29,211,782 T719P possibly damaging Het
Socs4 G A 14: 47,290,252 V215I probably benign Het
Spg11 A G 2: 122,094,456 probably null Het
Stk31 T A 6: 49,437,443 C459S probably benign Het
Ttn A G 2: 76,709,202 V26153A possibly damaging Het
Twf1 C T 15: 94,580,936 probably benign Het
Vrk3 A T 7: 44,769,647 K383M probably damaging Het
Wdr83 A T 8: 85,079,814 N118K probably damaging Het
Other mutations in Mrrf
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0239:Mrrf UTSW 2 36177281 splice site probably benign
R0370:Mrrf UTSW 2 36177113 critical splice acceptor site probably null
R0671:Mrrf UTSW 2 36153698 missense probably benign 0.01
R2517:Mrrf UTSW 2 36189097 missense probably benign 0.07
R4823:Mrrf UTSW 2 36148030 missense possibly damaging 0.93
R5552:Mrrf UTSW 2 36147961 missense possibly damaging 0.85
R6056:Mrrf UTSW 2 36177221 missense probably damaging 1.00
R8269:Mrrf UTSW 2 36147961 missense possibly damaging 0.85
Posted On2012-04-20