Incidental Mutation 'IGL02929:Mtrf1'
ID 364012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtrf1
Ensembl Gene ENSMUSG00000022022
Gene Name mitochondrial translational release factor 1
Synonyms A830062K05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL02929
Quality Score
Chromosome 14
Chromosomal Location 79635212-79661027 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79640273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 143 (K143E)
Ref Sequence ENSEMBL: ENSMUSP00000022600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022600]
AlphaFold Q8K126
Predicted Effect probably benign
Transcript: ENSMUST00000022600
AA Change: K143E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022
AA Change: K143E

low complexity region 104 119 N/A INTRINSIC
low complexity region 122 133 N/A INTRINSIC
PCRF 139 255 5.96e-27 SMART
Pfam:RF-1 290 400 2.6e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227610
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 was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330070K13Rik A G 5: 130,413,252 (GRCm39) probably null Het
Abcb5 T C 12: 118,908,674 (GRCm39) Y90C probably damaging Het
Accs T C 2: 93,674,566 (GRCm39) D112G probably damaging Het
Adam32 C A 8: 25,362,659 (GRCm39) V13L possibly damaging Het
Adgrb3 A G 1: 25,592,905 (GRCm39) V294A probably benign Het
Agt G T 8: 125,283,829 (GRCm39) A430E probably benign Het
Agxt2 T C 15: 10,388,379 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,056,116 (GRCm39) I235N probably damaging Het
Atp8b1 T C 18: 64,694,733 (GRCm39) I516M possibly damaging Het
Atrx T C X: 104,923,512 (GRCm39) probably null Het
Brcc3 T C X: 74,479,105 (GRCm39) V117A possibly damaging Het
Casp8ap2 T C 4: 32,624,105 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,892,115 (GRCm39) V286D probably damaging Het
Cpb1 T C 3: 20,329,630 (GRCm39) D32G probably benign Het
Cpsf1 C A 15: 76,486,327 (GRCm39) probably null Het
Dnai4 C T 4: 102,917,188 (GRCm39) W552* probably null Het
Dock2 A T 11: 34,218,048 (GRCm39) V1174E probably damaging Het
Dqx1 A G 6: 83,037,465 (GRCm39) probably benign Het
Ercc1 T C 7: 19,089,288 (GRCm39) probably null Het
Fn1 A G 1: 71,634,821 (GRCm39) probably null Het
Garre1 A T 7: 33,944,507 (GRCm39) M75K possibly damaging Het
Ice1 A G 13: 70,744,322 (GRCm39) L2087P probably damaging Het
Ift122 A G 6: 115,879,838 (GRCm39) D612G probably damaging Het
Igkv6-25 A G 6: 70,192,929 (GRCm39) Y112C probably damaging Het
Kit C A 5: 75,801,429 (GRCm39) P572Q probably damaging Het
Kras A G 6: 145,177,815 (GRCm39) probably benign Het
Ltv1 T C 10: 13,067,970 (GRCm39) K6R possibly damaging Het
Man1a C T 10: 53,801,531 (GRCm39) V443I probably benign Het
Mat2b A C 11: 40,575,540 (GRCm39) D154E probably benign Het
Myh13 A C 11: 67,257,991 (GRCm39) I95L probably damaging Het
Myo7b A T 18: 32,127,978 (GRCm39) D571E probably benign Het
Nek10 T A 14: 14,821,119 (GRCm38) D28E possibly damaging Het
Npm2 T A 14: 70,889,678 (GRCm39) probably null Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Plcb2 G A 2: 118,543,715 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,719,810 (GRCm39) M368T probably benign Het
Rnf123 G T 9: 107,946,275 (GRCm39) T300K probably benign Het
Sbspon A G 1: 15,954,069 (GRCm39) probably benign Het
Slc52a2 G A 15: 76,424,776 (GRCm39) C338Y probably benign Het
Tdrd6 T A 17: 43,940,604 (GRCm39) Q148L possibly damaging Het
Tle5 T A 10: 81,400,672 (GRCm39) probably null Het
Trpc3 T A 3: 36,692,623 (GRCm39) K790* probably null Het
Ushbp1 C T 8: 71,847,120 (GRCm39) A171T probably damaging Het
Usp32 T C 11: 84,879,198 (GRCm39) T1504A probably benign Het
Other mutations in Mtrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:Mtrf1 APN 14 79,660,865 (GRCm39) missense probably benign 0.10
IGL01478:Mtrf1 APN 14 79,640,360 (GRCm39) splice site probably benign
IGL01866:Mtrf1 APN 14 79,638,948 (GRCm39) missense probably benign
IGL02290:Mtrf1 APN 14 79,639,251 (GRCm39) nonsense probably null
IGL03342:Mtrf1 APN 14 79,653,312 (GRCm39) splice site probably null
IGL03342:Mtrf1 APN 14 79,653,311 (GRCm39) splice site probably benign
IGL03342:Mtrf1 APN 14 79,653,420 (GRCm39) missense possibly damaging 0.80
R0212:Mtrf1 UTSW 14 79,656,719 (GRCm39) missense probably benign 0.02
R0560:Mtrf1 UTSW 14 79,644,290 (GRCm39) missense probably damaging 1.00
R0604:Mtrf1 UTSW 14 79,653,327 (GRCm39) missense possibly damaging 0.92
R0669:Mtrf1 UTSW 14 79,656,708 (GRCm39) nonsense probably null
R0981:Mtrf1 UTSW 14 79,639,030 (GRCm39) missense probably benign 0.04
R1837:Mtrf1 UTSW 14 79,639,273 (GRCm39) missense possibly damaging 0.89
R1969:Mtrf1 UTSW 14 79,639,111 (GRCm39) missense probably damaging 1.00
R3883:Mtrf1 UTSW 14 79,656,707 (GRCm39) missense probably damaging 1.00
R4739:Mtrf1 UTSW 14 79,650,520 (GRCm39) missense probably damaging 1.00
R4748:Mtrf1 UTSW 14 79,649,090 (GRCm39) missense probably damaging 1.00
R4780:Mtrf1 UTSW 14 79,639,128 (GRCm39) missense probably benign 0.02
R4965:Mtrf1 UTSW 14 79,644,027 (GRCm39) missense probably benign
R5616:Mtrf1 UTSW 14 79,638,885 (GRCm39) missense possibly damaging 0.68
R6530:Mtrf1 UTSW 14 79,640,331 (GRCm39) missense possibly damaging 0.89
R6776:Mtrf1 UTSW 14 79,650,521 (GRCm39) missense probably damaging 1.00
R7095:Mtrf1 UTSW 14 79,660,931 (GRCm39) frame shift probably null
R7182:Mtrf1 UTSW 14 79,660,904 (GRCm39) missense possibly damaging 0.60
R7254:Mtrf1 UTSW 14 79,660,931 (GRCm39) frame shift probably null
R7871:Mtrf1 UTSW 14 79,644,378 (GRCm39) missense probably benign 0.19
R8249:Mtrf1 UTSW 14 79,638,919 (GRCm39) missense probably benign 0.23
R9593:Mtrf1 UTSW 14 79,656,664 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18