Incidental Mutation 'R4843:Mtrf1l'
ID 372000
Institutional Source Beutler Lab
Gene Symbol Mtrf1l
Ensembl Gene ENSMUSG00000019774
Gene Name mitochondrial translational release factor 1-like
Synonyms 9130004K12Rik
MMRRC Submission 042456-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4843 (G1)
Quality Score 161
Status Validated
Chromosome 10
Chromosomal Location 5761887-5773910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 5773696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 23 (P23Q)
Ref Sequence ENSEMBL: ENSMUSP00000019908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019908] [ENSMUST00000064225] [ENSMUST00000131996]
AlphaFold Q8BJU9
Predicted Effect possibly damaging
Transcript: ENSMUST00000019908
AA Change: P23Q

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000019908
Gene: ENSMUSG00000019774
AA Change: P23Q

DomainStartEndE-ValueType
PCRF 75 189 2.26e-36 SMART
Pfam:RF-1 221 331 1.5e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064225
SMART Domains Protein: ENSMUSP00000065825
Gene: ENSMUSG00000019775

DomainStartEndE-ValueType
low complexity region 48 60 N/A INTRINSIC
RGS 104 220 4.54e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131996
SMART Domains Protein: ENSMUSP00000116291
Gene: ENSMUSG00000019775

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
RGS 84 200 4.54e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145687
Meta Mutation Damage Score 0.1377 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 95% (58/61)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 T A 12: 30,946,144 (GRCm39) K124* probably null Het
Actl11 G T 9: 107,806,691 (GRCm39) C338F possibly damaging Het
Adam5 G A 8: 25,303,552 (GRCm39) S125F probably damaging Het
Ap2s1 C A 7: 16,477,271 (GRCm39) A44D possibly damaging Het
AW554918 T C 18: 25,473,057 (GRCm39) V84A probably benign Het
Bsn G A 9: 107,984,388 (GRCm39) T3222M unknown Het
Car15 A G 16: 17,654,472 (GRCm39) Y155H possibly damaging Het
Cdca2 G T 14: 67,914,425 (GRCm39) P945T probably damaging Het
Cdh16 A G 8: 105,348,172 (GRCm39) F182L probably damaging Het
Cers6 G A 2: 68,899,003 (GRCm39) A214T probably benign Het
Ces1g A T 8: 94,057,893 (GRCm39) M136K probably damaging Het
Cnppd1 A G 1: 75,113,086 (GRCm39) V394A probably benign Het
Cyp3a59 A T 5: 146,033,071 (GRCm39) I148F possibly damaging Het
Dnah1 G A 14: 30,986,920 (GRCm39) A3624V probably damaging Het
Exoc3l4 T C 12: 111,394,487 (GRCm39) probably benign Het
Fap G T 2: 62,374,718 (GRCm39) P227Q probably damaging Het
Fbxw10 G A 11: 62,738,151 (GRCm39) R15H possibly damaging Het
Gm11011 T C 2: 169,429,240 (GRCm39) probably benign Het
Gm11146 A C 16: 77,392,144 (GRCm39) probably benign Het
Grip1 G A 10: 119,765,920 (GRCm39) R84Q probably damaging Het
Hipk2 A G 6: 38,796,192 (GRCm39) C19R possibly damaging Het
Hmgcll1 A G 9: 75,979,916 (GRCm39) D102G possibly damaging Het
Ighv16-1 A T 12: 114,032,504 (GRCm39) Y99* probably null Het
Kank1 T G 19: 25,408,371 (GRCm39) S1283R probably damaging Het
Kcnip1 T A 11: 33,594,504 (GRCm39) H95L probably benign Het
L3mbtl3 A T 10: 26,207,777 (GRCm39) L314Q unknown Het
Marveld3 C A 8: 110,688,702 (GRCm39) R13L possibly damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or5p69 G A 7: 107,967,350 (GRCm39) A218T probably benign Het
Or6c1b G T 10: 129,273,316 (GRCm39) V212L probably benign Het
Paqr7 A G 4: 134,234,278 (GRCm39) Y45C probably damaging Het
Plod3 G A 5: 137,019,854 (GRCm39) W428* probably null Het
Pnisr T A 4: 21,857,400 (GRCm39) probably benign Het
Ppip5k1 C A 2: 121,157,368 (GRCm39) R1046L probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Prmt5 A T 14: 54,753,582 (GRCm39) I99N probably benign Het
Ripk2 T C 4: 16,155,073 (GRCm39) T149A probably damaging Het
Rpf2 C A 10: 40,122,998 (GRCm39) probably benign Het
Rtf1 T A 2: 119,536,017 (GRCm39) D190E possibly damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Snd1 T G 6: 28,668,642 (GRCm39) V443G probably damaging Het
Spag9 T C 11: 93,988,644 (GRCm39) F555L probably damaging Het
Srfbp1 A G 18: 52,621,749 (GRCm39) K270R probably benign Het
Tenm2 T A 11: 35,914,847 (GRCm39) N2230I probably damaging Het
Tmem106a T C 11: 101,477,021 (GRCm39) probably benign Het
Tpsg1 A T 17: 25,589,591 (GRCm39) probably benign Het
Trank1 A G 9: 111,195,146 (GRCm39) S1057G probably benign Het
Unc13d G A 11: 115,965,085 (GRCm39) T220M probably damaging Het
Vmn1r68 T C 7: 10,261,904 (GRCm39) T65A probably benign Het
Vps50 T C 6: 3,536,974 (GRCm39) probably null Het
Washc5 A G 15: 59,222,220 (GRCm39) I85T possibly damaging Het
Zfp677 C T 17: 21,612,788 (GRCm39) T2I probably benign Het
Zxdc A G 6: 90,359,254 (GRCm39) T629A probably damaging 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
R0051:Mtrf1l UTSW 10 5,763,382 (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
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
Predicted Primers PCR Primer
(F):5'- ATCTGGAACGCAGATGGCTTC -3'
(R):5'- AGGCTGTACTACGCTTTGCC -3'

Sequencing Primer
(F):5'- GATGGCTTCCGAACCCACTAGAG -3'
(R):5'- TACTACGCTTTGCCGGAAG -3'
Posted On 2016-03-01