Incidental Mutation 'R4020:Mtrf1l'
ID 312741
Institutional Source Beutler Lab
Gene Symbol Mtrf1l
Ensembl Gene ENSMUSG00000019774
Gene Name mitochondrial translational release factor 1-like
Synonyms 9130004K12Rik
MMRRC Submission 040954-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4020 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 5761887-5773910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5767454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 221 (T221A)
Ref Sequence ENSEMBL: ENSMUSP00000019908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019908]
AlphaFold Q8BJU9
Predicted Effect probably benign
Transcript: ENSMUST00000019908
AA Change: T221A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000019908
Gene: ENSMUSG00000019774
AA Change: T221A

DomainStartEndE-ValueType
PCRF 75 189 2.26e-36 SMART
Pfam:RF-1 221 331 1.5e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145718
Meta Mutation Damage Score 0.1324 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (54/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 G C 8: 89,035,362 (GRCm39) V89L probably benign Het
Aebp2 T A 6: 140,588,021 (GRCm39) S364T probably damaging Het
Akr1b10 C T 6: 34,369,388 (GRCm39) T206I probably benign Het
Ap4e1 C T 2: 126,903,846 (GRCm39) S916F probably benign Het
Apob C T 12: 8,044,914 (GRCm39) Q845* probably null Het
Asb4 A G 6: 5,390,803 (GRCm39) probably benign Het
Bltp1 A G 3: 37,066,724 (GRCm39) probably benign Het
C1ra A T 6: 124,496,736 (GRCm39) T391S probably benign Het
Catsperg2 C A 7: 29,416,429 (GRCm39) D328Y probably damaging Het
Ciapin1 G T 8: 95,555,814 (GRCm39) L119M probably damaging Het
Crhr2 A G 6: 55,077,765 (GRCm39) probably benign Het
Cyp2j6 A G 4: 96,406,407 (GRCm39) S455P probably benign Het
Dctn4 G A 18: 60,671,329 (GRCm39) probably benign Het
Defa25 C T 8: 21,575,245 (GRCm39) R75C probably benign Het
Dnajc10 T C 2: 80,175,296 (GRCm39) L561P probably damaging Het
Dnajc7 A T 11: 100,482,292 (GRCm39) F185L probably damaging Het
Dock9 T C 14: 121,844,267 (GRCm39) I1175V probably benign Het
Drosha T G 15: 12,837,422 (GRCm39) L302R possibly damaging Het
Efcab5 C T 11: 76,994,930 (GRCm39) V1214I probably benign Het
Erich3 G A 3: 154,419,686 (GRCm39) R260H probably damaging Het
Fam168b T C 1: 34,867,860 (GRCm39) T47A possibly damaging Het
Gorasp1 G A 9: 119,757,936 (GRCm39) R290C probably benign Het
Gtf2a1 A G 12: 91,539,351 (GRCm39) S94P possibly damaging Het
Ighv1-53 C T 12: 115,122,442 (GRCm39) C5Y probably benign Het
Impdh1 T C 6: 29,202,693 (GRCm39) I446V probably benign Het
Krtap5-1 T C 7: 141,850,094 (GRCm39) probably null Het
Lipo3 T A 19: 33,764,804 (GRCm39) I17L probably benign Het
Lrrc37 A G 11: 103,506,119 (GRCm39) S1950P probably benign Het
Lss T C 10: 76,383,278 (GRCm39) M526T probably damaging Het
Med12l A C 3: 59,155,363 (GRCm39) Q1181P probably damaging Het
Muc21 T C 17: 35,930,953 (GRCm39) probably benign Het
Mxi1 C A 19: 53,360,160 (GRCm39) A294E probably benign Het
Naip5 T C 13: 100,359,883 (GRCm39) E451G probably benign Het
Naip5 T C 13: 100,359,902 (GRCm39) I445V probably benign Het
Nfrkb T A 9: 31,325,407 (GRCm39) L950Q possibly damaging Het
Nherf4 A T 9: 44,162,117 (GRCm39) probably null Het
Oplah A G 15: 76,181,476 (GRCm39) Y1155H probably damaging Het
Or5b105 T G 19: 13,079,790 (GRCm39) K287Q probably damaging Het
Pcnx1 C T 12: 81,965,018 (GRCm39) T395I probably damaging Het
Pitrm1 A G 13: 6,606,723 (GRCm39) H259R probably damaging Het
Pllp C A 8: 95,406,072 (GRCm39) M70I possibly damaging Het
Pop1 A G 15: 34,508,926 (GRCm39) T334A probably benign Het
Prep T C 10: 44,968,894 (GRCm39) probably benign Het
Ptprz1 C A 6: 22,959,623 (GRCm39) probably benign Het
Sbsn A G 7: 30,455,390 (GRCm39) S170G probably damaging Het
Sco1 T G 11: 66,954,846 (GRCm39) S284A probably benign Het
Slc25a10 T A 11: 120,388,265 (GRCm39) M227K probably damaging Het
Trav7-6 A G 14: 53,954,638 (GRCm39) K56R probably benign Het
Ubr4 T G 4: 139,179,116 (GRCm39) C3322G probably damaging Het
Unc5a T C 13: 55,151,182 (GRCm39) Y608H probably damaging Het
Zfand1 A C 3: 10,405,816 (GRCm39) N262K probably benign Het
Zfp335 C T 2: 164,743,380 (GRCm39) R536H 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
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
Predicted Primers PCR Primer
(F):5'- TGACGCACAAGGGAGACTTAC -3'
(R):5'- CTGTTTTCAAGGTGGCCTTAGAC -3'

Sequencing Primer
(F):5'- GGGAGACTTACAATGTCCATTTC -3'
(R):5'- TTAGACATGCGTCAGCCAG -3'
Posted On 2015-04-30