Incidental Mutation 'IGL01292:Mtrf1l'
ID72952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtrf1l
Ensembl Gene ENSMUSG00000019774
Gene Namemitochondrial translational release factor 1-like
Synonyms9130004K12Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01292
Quality Score
Status
Chromosome10
Chromosomal Location5811887-5823910 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 5814090 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 291 (M291K)
Ref Sequence ENSEMBL: ENSMUSP00000019908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019908]
Predicted Effect probably benign
Transcript: ENSMUST00000019908
AA Change: M291K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000019908
Gene: ENSMUSG00000019774
AA Change: M291K

DomainStartEndE-ValueType
PCRF 75 189 2.26e-36 SMART
Pfam:RF-1 221 331 1.5e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145718
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,660,874 S1045G probably benign Het
Aak1 T C 6: 86,949,538 probably benign Het
Car15 A G 16: 17,835,529 F258S probably damaging Het
Cpd A G 11: 76,846,245 I241T possibly damaging Het
Dchs1 T C 7: 105,760,891 D1758G probably damaging Het
Eogt T A 6: 97,144,027 N75I possibly damaging Het
Eps8l1 T C 7: 4,478,920 probably benign Het
Gdpd4 T C 7: 98,014,954 probably benign Het
Igbp1b C T 6: 138,657,535 E304K probably benign Het
Ighv1-63 A G 12: 115,495,858 S40P probably damaging Het
Intu T C 3: 40,664,266 V234A probably benign Het
Lrrc6 A T 15: 66,481,233 probably benign Het
Mars A T 10: 127,305,518 I334N probably damaging Het
Morc2a C A 11: 3,688,175 A967D probably damaging Het
Muc19 A G 15: 91,894,276 noncoding transcript Het
Myl3 A T 9: 110,767,977 D135V probably damaging Het
Myt1 T A 2: 181,805,012 L537M probably damaging Het
Ndst4 A G 3: 125,438,754 D324G probably damaging Het
Plce1 T A 19: 38,651,785 probably benign Het
Prkab1 A T 5: 116,024,110 F47Y probably damaging Het
Prkag2 C T 5: 25,021,965 S98N probably benign Het
Rasgef1a T A 6: 118,080,383 V15D possibly damaging Het
Scgb1b19 T A 7: 33,287,626 C67* probably null Het
Slc25a15 T C 8: 22,390,036 D31G possibly damaging Het
Slc4a11 C T 2: 130,690,832 probably null Het
Snx15 A T 19: 6,119,885 M331K probably benign Het
Tsks T C 7: 44,952,558 Y224H probably damaging Het
Ufd1 T C 16: 18,821,114 S123P probably damaging Het
Xpnpep3 T G 15: 81,427,498 V135G probably damaging Het
Other mutations in Mtrf1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:Mtrf1l APN 10 5814180 splice site probably benign
IGL01844:Mtrf1l APN 10 5814112 missense probably null 0.76
R0050:Mtrf1l UTSW 10 5815553 splice site silent
R0051:Mtrf1l UTSW 10 5813382 missense probably damaging 1.00
R0051:Mtrf1l UTSW 10 5813384 missense probably damaging 1.00
R0866:Mtrf1l UTSW 10 5813376 missense probably damaging 1.00
R1636:Mtrf1l UTSW 10 5813265 missense probably damaging 0.98
R2897:Mtrf1l UTSW 10 5817565 missense probably benign 0.16
R4020:Mtrf1l UTSW 10 5817454 missense probably benign 0.01
R4618:Mtrf1l UTSW 10 5817586 missense probably benign 0.37
R4843:Mtrf1l UTSW 10 5823696 missense possibly damaging 0.56
R6034:Mtrf1l UTSW 10 5823834 unclassified probably benign
R6034:Mtrf1l UTSW 10 5823834 unclassified probably benign
R6261:Mtrf1l UTSW 10 5815550 critical splice donor site probably null
R6345:Mtrf1l UTSW 10 5817468 missense possibly damaging 0.96
R6991:Mtrf1l UTSW 10 5813384 missense probably damaging 1.00
R7669:Mtrf1l UTSW 10 5815620 missense probably damaging 1.00
Posted On2013-10-07