Incidental Mutation 'R0051:Mtrf1l'
ID 15975
Institutional Source Beutler Lab
Gene Symbol Mtrf1l
Ensembl Gene ENSMUSG00000019774
Gene Name mitochondrial translational release factor 1-like
Synonyms 9130004K12Rik
MMRRC Submission 038345-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0051 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 5761887-5773910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5763382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 316 (K316E)
Ref Sequence ENSEMBL: ENSMUSP00000019908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019908]
AlphaFold Q8BJU9
Predicted Effect probably damaging
Transcript: ENSMUST00000019908
AA Change: K316E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019908
Gene: ENSMUSG00000019774
AA Change: K316E

DomainStartEndE-ValueType
PCRF 75 189 2.26e-36 SMART
Pfam:RF-1 221 331 1.5e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145718
Meta Mutation Damage Score 0.5858 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 85.7%
  • 10x: 76.8%
  • 20x: 60.8%
Validation Efficiency 84% (69/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6330444E15Rik A G 7: 29,278,526 (GRCm39) noncoding transcript Het
Ankrd11 C A 8: 123,616,481 (GRCm39) C2457F probably damaging Het
Anks3 G C 16: 4,765,613 (GRCm39) T163S probably benign Het
Cacna1d G A 14: 29,833,052 (GRCm39) P908S probably damaging Het
Ccdc146 C A 5: 21,521,902 (GRCm39) R374L possibly damaging Het
Cdc45 G T 16: 18,613,524 (GRCm39) A348E probably damaging Het
Cfap46 A G 7: 139,255,951 (GRCm39) C300R probably damaging Het
Coq2 T C 5: 100,811,551 (GRCm39) N146S probably benign Het
Dalrd3 T C 9: 108,449,414 (GRCm39) V120A possibly damaging Het
Ddx39a A G 8: 84,447,251 (GRCm39) K137R possibly damaging Het
Diaph3 A G 14: 87,274,890 (GRCm39) probably null Het
Dmbt1 G T 7: 130,721,225 (GRCm39) R1668L possibly damaging Het
Dpp7 A G 2: 25,246,107 (GRCm39) Y49H possibly damaging Het
Drd5 A G 5: 38,477,957 (GRCm39) S317G probably benign Het
Ecpas A G 4: 58,832,729 (GRCm39) L877S probably damaging Het
Ecsit C T 9: 21,987,584 (GRCm39) V152I probably benign Het
Eeig1 G A 2: 32,448,065 (GRCm39) R58Q possibly damaging Het
Fcrl6 A T 1: 172,426,320 (GRCm39) L159Q probably benign Het
Frrs1 T C 3: 116,678,946 (GRCm39) probably benign Het
Galnt14 C A 17: 73,814,854 (GRCm39) R403L probably benign Het
Hspd1 A G 1: 55,121,205 (GRCm39) probably benign Het
Klf17 T C 4: 117,617,589 (GRCm39) Y256C probably damaging Het
Mafg G T 11: 120,520,430 (GRCm39) R57S probably damaging Het
Med13l T A 5: 118,880,720 (GRCm39) W1271R probably damaging Het
Mrpl4 C A 9: 20,918,964 (GRCm39) T203K probably damaging Het
Nbeal1 T A 1: 60,349,422 (GRCm39) N2361K probably benign Het
Ncaph2 T C 15: 89,253,867 (GRCm39) S320P probably damaging Het
Nek11 A G 9: 105,095,738 (GRCm39) probably benign Het
Ptprn A G 1: 75,228,898 (GRCm39) probably null Het
Rab37 T C 11: 115,049,491 (GRCm39) L100P probably damaging Het
Rbm26 A C 14: 105,389,976 (GRCm39) V216G possibly damaging Het
Rnf115 A G 3: 96,692,338 (GRCm39) D178G probably damaging Het
Rtel1 C T 2: 180,992,449 (GRCm39) Q424* probably null Het
Rwdd4a A G 8: 47,990,400 (GRCm39) probably benign Het
Ryr3 T C 2: 112,699,420 (GRCm39) D890G probably damaging Het
Serpina10 A G 12: 103,593,156 (GRCm39) probably benign Het
Slc43a2 T C 11: 75,453,676 (GRCm39) C225R probably damaging Het
Slc6a9 T C 4: 117,722,056 (GRCm39) F440L probably damaging Het
Stk32b A G 5: 37,616,940 (GRCm39) probably benign Het
Syna A G 5: 134,588,397 (GRCm39) L184P probably damaging Het
Tbx10 T C 19: 4,046,798 (GRCm39) probably null Het
Tmprss7 T C 16: 45,494,302 (GRCm39) N401S probably damaging Het
Tut4 T G 4: 108,384,201 (GRCm39) S1089R probably damaging Het
Ugt2a3 A G 5: 87,484,865 (GRCm39) V53A probably damaging Het
Yeats2 T A 16: 20,012,474 (GRCm39) Y557* probably null Het
Other mutations in Mtrf1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:Mtrf1l APN 10 5,764,180 (GRCm39) splice site probably benign
IGL01292:Mtrf1l APN 10 5,764,090 (GRCm39) missense probably benign 0.00
IGL01844:Mtrf1l APN 10 5,764,112 (GRCm39) missense probably null 0.76
R0050:Mtrf1l UTSW 10 5,765,553 (GRCm39) splice site silent
R0051:Mtrf1l UTSW 10 5,763,384 (GRCm39) missense probably damaging 1.00
R0866:Mtrf1l UTSW 10 5,763,376 (GRCm39) missense probably damaging 1.00
R1636:Mtrf1l UTSW 10 5,763,265 (GRCm39) missense probably damaging 0.98
R2897:Mtrf1l UTSW 10 5,767,565 (GRCm39) missense probably benign 0.16
R4020:Mtrf1l UTSW 10 5,767,454 (GRCm39) missense probably benign 0.01
R4618:Mtrf1l UTSW 10 5,767,586 (GRCm39) missense probably benign 0.37
R4843:Mtrf1l UTSW 10 5,773,696 (GRCm39) missense possibly damaging 0.56
R6034:Mtrf1l UTSW 10 5,773,834 (GRCm39) unclassified probably benign
R6034:Mtrf1l UTSW 10 5,773,834 (GRCm39) unclassified probably benign
R6261:Mtrf1l UTSW 10 5,765,550 (GRCm39) critical splice donor site probably null
R6345:Mtrf1l UTSW 10 5,767,468 (GRCm39) missense possibly damaging 0.96
R6991:Mtrf1l UTSW 10 5,763,384 (GRCm39) missense probably damaging 1.00
R7669:Mtrf1l UTSW 10 5,765,620 (GRCm39) missense probably damaging 1.00
Posted On 2013-01-08