Incidental Mutation 'R4748:Mtrf1'
ID 357335
Institutional Source Beutler Lab
Gene Symbol Mtrf1
Ensembl Gene ENSMUSG00000022022
Gene Name mitochondrial translational release factor 1
Synonyms A830062K05Rik
MMRRC Submission 042030-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R4748 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 79635212-79661027 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79649090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 237 (H237Y)
Ref Sequence ENSEMBL: ENSMUSP00000022600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022600]
AlphaFold Q8K126
Predicted Effect probably damaging
Transcript: ENSMUST00000022600
AA Change: H237Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022
AA Change: H237Y

DomainStartEndE-ValueType
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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T A 1: 138,784,394 (GRCm39) E54D possibly damaging Het
Abcb6 C A 1: 75,154,002 (GRCm39) G367W probably damaging Het
Asprv1 A G 6: 86,605,405 (GRCm39) M84V probably damaging Het
Aspscr1 T C 11: 120,592,333 (GRCm39) V291A probably damaging Het
B4galnt4 T C 7: 140,651,633 (GRCm39) F980L probably damaging Het
Bpi G A 2: 158,113,941 (GRCm39) V280I possibly damaging Het
Bptf T C 11: 106,986,706 (GRCm39) D581G probably damaging Het
Cap2 T A 13: 46,793,302 (GRCm39) Y223N possibly damaging Het
Ccdc141 A C 2: 76,888,324 (GRCm39) I480M possibly damaging Het
Ccn4 C A 15: 66,778,489 (GRCm39) Y103* probably null Het
Ccnh T A 13: 85,337,758 (GRCm39) V35E probably benign Het
Cd6 G T 19: 10,771,589 (GRCm39) S433* probably null Het
Ceacam10 A C 7: 24,480,477 (GRCm39) I83L probably benign Het
Chek2 T C 5: 111,003,705 (GRCm39) probably null Het
Chia1 A T 3: 106,029,765 (GRCm39) D73V probably damaging Het
Commd2 G A 3: 57,554,215 (GRCm39) T162I probably benign Het
Creb3l3 C T 10: 80,921,881 (GRCm39) A316T probably benign Het
Cul4a A G 8: 13,173,526 (GRCm39) K1R probably benign Het
Cyp2c23 T C 19: 44,005,176 (GRCm39) probably null Het
D630045J12Rik T C 6: 38,173,776 (GRCm39) T131A possibly damaging Het
Dctn4 A C 18: 60,683,308 (GRCm39) K295N probably damaging Het
Dnah1 A G 14: 31,041,902 (GRCm39) V23A probably benign Het
Dync1i1 A G 6: 5,767,048 (GRCm39) K91E possibly damaging Het
Dzip1l A G 9: 99,524,704 (GRCm39) D275G probably damaging Het
Enam C A 5: 88,649,402 (GRCm39) P304T probably damaging Het
Enpep A G 3: 129,125,812 (GRCm39) Y107H probably damaging Het
Exd2 T C 12: 80,527,350 (GRCm39) L27P probably damaging Het
Fam135b T A 15: 71,335,904 (GRCm39) D430V probably benign Het
Fam222b C T 11: 78,045,429 (GRCm39) T202I possibly damaging Het
Fmod T A 1: 133,968,912 (GRCm39) N317K probably damaging Het
Frem2 A G 3: 53,448,514 (GRCm39) F2301L probably damaging Het
Frem3 T C 8: 81,338,088 (GRCm39) F127S probably damaging Het
Gbp7 A G 3: 142,243,848 (GRCm39) S132G probably benign Het
Gm4787 A G 12: 81,424,830 (GRCm39) C443R probably damaging Het
Grik2 T C 10: 49,411,437 (GRCm39) M5V possibly damaging Het
Helb T C 10: 119,920,754 (GRCm39) D1063G probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt90 G A 15: 101,463,768 (GRCm39) L429F probably damaging Het
Lrr1 C A 12: 69,221,236 (GRCm39) T126K probably benign Het
Mgat4e C A 1: 134,469,766 (GRCm39) D93Y probably damaging Het
Mllt3 A T 4: 87,759,018 (GRCm39) S343R possibly damaging Het
Mms19 T A 19: 41,932,997 (GRCm39) S1031C probably damaging Het
Nckap1l T A 15: 103,381,483 (GRCm39) L408Q probably damaging Het
Oit3 A T 10: 59,259,904 (GRCm39) C500S probably damaging Het
Or11g1 T G 14: 50,651,333 (GRCm39) L111V possibly damaging Het
Or13c3 A G 4: 52,856,076 (GRCm39) S146P possibly damaging Het
Or4a39 C T 2: 89,236,599 (GRCm39) V275I probably benign Het
Or5d36 T A 2: 87,900,956 (GRCm39) I257L probably benign Het
Otud7a T C 7: 63,385,663 (GRCm39) S376P possibly damaging Het
Pabpc2 A T 18: 39,907,322 (GRCm39) K196* probably null Het
Paqr8 T A 1: 21,005,637 (GRCm39) C264S probably benign Het
Pgm1 T A 4: 99,839,176 (GRCm39) F459Y probably benign Het
Phip C A 9: 82,790,922 (GRCm39) V675L probably benign Het
Pnma1 T G 12: 84,194,497 (GRCm39) T69P probably benign Het
Ppp1r14bl T C 1: 23,140,951 (GRCm39) E121G probably damaging Het
Ptpn12 A T 5: 21,210,383 (GRCm39) C242* probably null Het
Rabep1 T A 11: 70,799,294 (GRCm39) V306E probably benign Het
Ros1 C T 10: 51,992,093 (GRCm39) D1377N probably benign Het
Ryr3 T C 2: 112,794,750 (GRCm39) T121A possibly damaging Het
Scaf11 G A 15: 96,318,302 (GRCm39) Q421* probably null Het
Shcbp1 G A 8: 4,794,512 (GRCm39) T427M probably damaging Het
Shprh G A 10: 11,046,220 (GRCm39) R979H probably damaging Het
Slc22a27 C T 19: 7,903,241 (GRCm39) C163Y probably benign Het
Slc27a1 A G 8: 72,033,319 (GRCm39) D287G probably damaging Het
Slc27a1 C T 8: 72,033,453 (GRCm39) T310M possibly damaging Het
Slc29a3 A G 10: 60,552,105 (GRCm39) V313A probably benign Het
Slc35f2 A T 9: 53,679,069 (GRCm39) M1L probably benign Het
Sltm G C 9: 70,488,647 (GRCm39) R599T probably damaging Het
Spic T A 10: 88,511,752 (GRCm39) Q168L probably damaging Het
Spink6 G A 18: 44,215,428 (GRCm39) probably null Het
Stac2 T C 11: 97,932,198 (GRCm39) E235G possibly damaging Het
Szt2 G A 4: 118,246,388 (GRCm39) Q957* probably null Het
Them7 A T 2: 105,208,991 (GRCm39) T104S possibly damaging Het
Tmed4 T A 11: 6,221,716 (GRCm39) I207F possibly damaging Het
Tmem248 A G 5: 130,265,731 (GRCm39) E178G probably benign Het
Tomm40l G A 1: 171,047,131 (GRCm39) R296* probably null Het
Trim80 C A 11: 115,338,964 (GRCm39) T598N possibly damaging Het
Trim9 T C 12: 70,295,047 (GRCm39) N688D probably damaging Het
Vil1 C T 1: 74,460,425 (GRCm39) A194V probably damaging Het
Vmn2r61 A T 7: 41,916,565 (GRCm39) M393L probably damaging Het
Vmn2r63 C T 7: 42,577,544 (GRCm39) M331I probably benign Het
Vps33b G T 7: 79,939,796 (GRCm39) A516S probably damaging Het
Zc3h6 G A 2: 128,844,160 (GRCm39) G235R probably damaging Het
Zfp612 T A 8: 110,815,304 (GRCm39) D170E probably benign Het
Zfp746 A G 6: 48,041,490 (GRCm39) I412T 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
IGL02929:Mtrf1 APN 14 79,640,273 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AGCCAGATGTTACCTACAGC -3'
(R):5'- ACCTCATCTGGCTGTGGAAG -3'

Sequencing Primer
(F):5'- TCCCAGCATTCAAGAGGTTG -3'
(R):5'- GGAAGGACAATCACTGACATTGTTCC -3'
Posted On 2015-11-11