Incidental Mutation 'R7182:Mtrf1'
ID 559074
Institutional Source Beutler Lab
Gene Symbol Mtrf1
Ensembl Gene ENSMUSG00000022022
Gene Name mitochondrial translational release factor 1
Synonyms
MMRRC Submission 045234-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R7182 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 79397772-79423587 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79423464 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 432 (E432G)
Ref Sequence ENSEMBL: ENSMUSP00000022600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022600] [ENSMUST00000061222]
AlphaFold Q8K126
Predicted Effect possibly damaging
Transcript: ENSMUST00000022600
AA Change: E432G

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022
AA Change: E432G

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 probably benign
Transcript: ENSMUST00000061222
SMART Domains Protein: ENSMUSP00000060768
Gene: ENSMUSG00000043881

DomainStartEndE-ValueType
Blast:BTB 11 44 2e-11 BLAST
BTB 63 168 1.05e-23 SMART
BACK 173 279 1.41e-19 SMART
low complexity region 317 340 N/A INTRINSIC
Pfam:Kelch_1 434 481 1.7e-9 PFAM
low complexity region 657 676 N/A INTRINSIC
Meta Mutation Damage Score 0.5604 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (70/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,849,714 (GRCm38) V323A unknown Het
AC117241.1 A G 17: 7,352,688 (GRCm38) V158A unknown Het
Acadm A G 3: 153,941,881 (GRCm38) probably null Het
Adcy10 T G 1: 165,543,470 (GRCm38) probably null Het
Aldh6a1 C T 12: 84,441,831 (GRCm38) A94T probably benign Het
Ano2 T A 6: 125,790,293 (GRCm38) L229Q probably damaging Het
Cacna1h C T 17: 25,377,655 (GRCm38) R1828H probably damaging Het
Ccdc33 A T 9: 58,034,173 (GRCm38) probably null Het
Cep112 A C 11: 108,682,844 (GRCm38) D6A probably benign Het
Chd9 T C 8: 91,006,622 (GRCm38) F1373S unknown Het
Cog5 T C 12: 31,685,708 (GRCm38) L158P probably damaging Het
Col6a3 G A 1: 90,803,678 (GRCm38) Q1618* probably null Het
Dlg5 A G 14: 24,244,856 (GRCm38) V3A Het
Dnah7a T A 1: 53,620,461 (GRCm38) probably null Het
Dpp10 A T 1: 123,341,151 (GRCm38) H716Q probably benign Het
Epor A G 9: 21,963,329 (GRCm38) F35L probably benign Het
Ergic1 A T 17: 26,654,882 (GRCm38) Y92F Het
Fam98a G A 17: 75,539,018 (GRCm38) Q273* probably null Het
Fhdc1 G A 3: 84,448,850 (GRCm38) T429I probably damaging Het
Fmnl2 T A 2: 53,107,441 (GRCm38) L468Q unknown Het
Fmnl3 C T 15: 99,321,782 (GRCm38) R695Q probably damaging Het
Gabrg2 T C 11: 41,920,506 (GRCm38) M271V probably damaging Het
Garin4 C T 1: 191,163,351 (GRCm38) R365H probably damaging Het
Gk5 G T 9: 96,119,526 (GRCm38) V26L possibly damaging Het
Gm14412 A C 2: 177,315,615 (GRCm38) N162K probably benign Het
Gm3604 T C 13: 62,371,875 (GRCm38) D22G probably damaging Het
Gm5565 G T 5: 146,158,055 (GRCm38) H294N probably benign Het
Hsf2 T A 10: 57,505,176 (GRCm38) D287E possibly damaging Het
Ift70b A T 2: 75,937,949 (GRCm38) Y153* probably null Het
Impdh2 G A 9: 108,563,208 (GRCm38) R231H possibly damaging Het
Irak3 T C 10: 120,166,511 (GRCm38) H234R probably damaging Het
Lrba GTTCCCTTC GTTC 3: 86,741,458 (GRCm38) probably null Het
Lrch3 T A 16: 32,993,779 (GRCm38) D551E probably benign Het
Manba A T 3: 135,567,513 (GRCm38) N736I probably benign Het
Map2 A G 1: 66,412,653 (GRCm38) D234G possibly damaging Het
Mdk C A 2: 91,930,852 (GRCm38) K121N unknown Het
Mfn1 T A 3: 32,564,220 (GRCm38) L526Q probably damaging Het
Mfsd2b A G 12: 4,866,157 (GRCm38) probably null Het
Mnat1 G T 12: 73,230,678 (GRCm38) E233* probably null Het
Mtmr4 T C 11: 87,604,605 (GRCm38) probably null Het
Muc5b C T 7: 141,842,645 (GRCm38) R165C unknown Het
Naip6 T A 13: 100,316,149 (GRCm38) I135F probably benign Het
Nod2 A G 8: 88,663,832 (GRCm38) T256A probably benign Het
Notch4 T A 17: 34,583,499 (GRCm38) V1298E probably damaging Het
Nudc G T 4: 133,534,465 (GRCm38) D169E possibly damaging Het
Obscn A T 11: 59,035,101 (GRCm38) I5602N probably damaging Het
Or5b114-ps1 G A 19: 13,375,844 (GRCm38) G294E unknown Het
Osbpl10 G A 9: 115,067,251 (GRCm38) D18N probably damaging Het
Pigk G A 3: 152,722,551 (GRCm38) V72I possibly damaging Het
Prl8a6 C T 13: 27,437,170 (GRCm38) E26K probably damaging Het
Prpf8 A G 11: 75,490,727 (GRCm38) Y318C possibly damaging Het
Rab13 A G 3: 90,224,763 (GRCm38) D159G possibly damaging Het
Rgl2 T C 17: 33,934,990 (GRCm38) F457L possibly damaging Het
Ryr2 T C 13: 11,759,757 (GRCm38) H1171R probably benign Het
Scn4a T A 11: 106,330,308 (GRCm38) I842F probably benign Het
Scnm1 A T 3: 95,133,854 (GRCm38) N14K possibly damaging Het
Serinc1 A T 10: 57,524,361 (GRCm38) I137N probably benign Het
Slc30a3 A C 5: 31,089,670 (GRCm38) M103R probably damaging Het
Slc30a3 T C 5: 31,086,825 (GRCm38) Q371R probably benign Het
Slco1a1 A T 6: 141,911,839 (GRCm38) C589S probably damaging Het
Slco1b2 A G 6: 141,656,930 (GRCm38) Y203C probably damaging Het
Spty2d1 A T 7: 46,998,523 (GRCm38) D219E probably benign Het
Svep1 A T 4: 58,043,991 (GRCm38) S3552T probably benign Het
Tmem62 A G 2: 121,004,743 (GRCm38) I516M probably benign Het
Trim61 A T 8: 65,013,614 (GRCm38) S332T probably damaging Het
Trmt10b A C 4: 45,308,520 (GRCm38) T227P probably benign Het
Trpc3 T C 3: 36,655,109 (GRCm38) Q406R probably benign Het
Ush2a A T 1: 188,753,543 (GRCm38) Y2950F probably benign Het
Usp32 C T 11: 85,040,170 (GRCm38) G478D probably benign Het
Wdfy3 A G 5: 101,943,892 (GRCm38) L527P possibly damaging Het
Wdr73 A G 7: 80,893,678 (GRCm38) V163A possibly damaging Het
Other mutations in Mtrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:Mtrf1 APN 14 79,423,425 (GRCm38) missense probably benign 0.10
IGL01478:Mtrf1 APN 14 79,402,920 (GRCm38) splice site probably benign
IGL01866:Mtrf1 APN 14 79,401,508 (GRCm38) missense probably benign
IGL02290:Mtrf1 APN 14 79,401,811 (GRCm38) nonsense probably null
IGL02929:Mtrf1 APN 14 79,402,833 (GRCm38) missense probably benign 0.00
IGL03342:Mtrf1 APN 14 79,415,872 (GRCm38) splice site probably null
IGL03342:Mtrf1 APN 14 79,415,871 (GRCm38) splice site probably benign
IGL03342:Mtrf1 APN 14 79,415,980 (GRCm38) missense possibly damaging 0.80
R0212:Mtrf1 UTSW 14 79,419,279 (GRCm38) missense probably benign 0.02
R0560:Mtrf1 UTSW 14 79,406,850 (GRCm38) missense probably damaging 1.00
R0604:Mtrf1 UTSW 14 79,415,887 (GRCm38) missense possibly damaging 0.92
R0669:Mtrf1 UTSW 14 79,419,268 (GRCm38) nonsense probably null
R0981:Mtrf1 UTSW 14 79,401,590 (GRCm38) missense probably benign 0.04
R1837:Mtrf1 UTSW 14 79,401,833 (GRCm38) missense possibly damaging 0.89
R1969:Mtrf1 UTSW 14 79,401,671 (GRCm38) missense probably damaging 1.00
R3883:Mtrf1 UTSW 14 79,419,267 (GRCm38) missense probably damaging 1.00
R4739:Mtrf1 UTSW 14 79,413,080 (GRCm38) missense probably damaging 1.00
R4748:Mtrf1 UTSW 14 79,411,650 (GRCm38) missense probably damaging 1.00
R4780:Mtrf1 UTSW 14 79,401,688 (GRCm38) missense probably benign 0.02
R4965:Mtrf1 UTSW 14 79,406,587 (GRCm38) missense probably benign
R5616:Mtrf1 UTSW 14 79,401,445 (GRCm38) missense possibly damaging 0.68
R6530:Mtrf1 UTSW 14 79,402,891 (GRCm38) missense possibly damaging 0.89
R6776:Mtrf1 UTSW 14 79,413,081 (GRCm38) missense probably damaging 1.00
R7095:Mtrf1 UTSW 14 79,423,491 (GRCm38) frame shift probably null
R7254:Mtrf1 UTSW 14 79,423,491 (GRCm38) frame shift probably null
R7871:Mtrf1 UTSW 14 79,406,938 (GRCm38) missense probably benign 0.19
R8249:Mtrf1 UTSW 14 79,401,479 (GRCm38) missense probably benign 0.23
R9593:Mtrf1 UTSW 14 79,419,224 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTTCAGTTCCATTGGGAGACAC -3'
(R):5'- GGAGAGCTGGATTATTTACTGAAACC -3'

Sequencing Primer
(F):5'- AGTTCCATTGGGAGACACACCTTC -3'
(R):5'- ACTCTATGCAAGAAATGTGAGTTTC -3'
Posted On 2019-06-26