Incidental Mutation 'IGL01459:Tars'
ID87935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tars
Ensembl Gene ENSMUSG00000022241
Gene Namethreonyl-tRNA synthetase
SynonymsD15Wsu59e, ThrRS
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.947) question?
Stock #IGL01459
Quality Score
Status
Chromosome15
Chromosomal Location11382301-11399665 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 11391854 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 265 (V265A)
Ref Sequence ENSEMBL: ENSMUSP00000022849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022849] [ENSMUST00000228814]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022849
AA Change: V265A

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: V265A

DomainStartEndE-ValueType
low complexity region 21 45 N/A INTRINSIC
Pfam:TGS 82 142 7.5e-18 PFAM
tRNA_SAD 248 297 1.91e-16 SMART
Pfam:tRNA-synt_2b 396 607 5e-38 PFAM
Pfam:HGTP_anticodon 619 710 6.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226904
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228710
Predicted Effect probably benign
Transcript: ENSMUST00000228814
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2a2 A G 5: 122,469,652 S265P probably benign Het
Brwd1 A G 16: 96,047,420 F520L probably damaging Het
Cdh5 A T 8: 104,137,817 D470V probably damaging Het
Cdr2l A G 11: 115,390,552 R41G probably damaging Het
Csrnp1 C T 9: 119,972,958 C345Y probably damaging Het
Dscaml1 T A 9: 45,742,683 Y1419* probably null Het
Entpd3 T C 9: 120,561,941 S420P probably damaging Het
Epb41 A G 4: 131,964,128 probably benign Het
Erg A G 16: 95,361,282 S322P probably damaging Het
Fndc3b T A 3: 27,461,740 H639L probably benign Het
Grwd1 C T 7: 45,830,410 probably null Het
Kbtbd8 A G 6: 95,122,808 N356D probably benign Het
Kif15 A G 9: 122,975,755 E189G probably damaging Het
Kif2b T C 11: 91,577,023 K145E possibly damaging Het
Kif5c A G 2: 49,735,557 D613G probably benign Het
Lipe T G 7: 25,383,542 Q457P probably damaging Het
Lrp1b A T 2: 40,860,714 I2946N probably damaging Het
Mtf2 C T 5: 108,080,943 P42S probably damaging Het
Neb A G 2: 52,176,792 S5886P probably damaging Het
Nmu A G 5: 76,358,349 probably null Het
Nup153 T C 13: 46,712,926 E214G possibly damaging Het
Olfr301 A C 7: 86,412,551 N104T probably damaging Het
Olfr792 G A 10: 129,540,541 M1I probably null Het
Paqr3 T C 5: 97,095,937 D306G probably benign Het
Plxna2 A G 1: 194,764,570 D796G probably benign Het
Prkra A G 2: 76,630,436 L306S probably damaging Het
Psg20 T A 7: 18,682,713 E159D probably damaging Het
Ptchd3 G T 11: 121,830,420 V40L probably benign Het
Rfx5 T C 3: 94,957,775 probably benign Het
Rimbp2 A G 5: 128,788,211 probably null Het
Slc22a4 C A 11: 53,986,477 probably null Het
Tatdn2 T A 6: 113,710,031 probably null Het
Tenm4 C T 7: 96,729,385 P399L probably damaging Het
Tmem135 A T 7: 89,151,438 D325E probably damaging Het
Tmprss7 A T 16: 45,663,343 I556N probably benign Het
Tom1l2 C T 11: 60,280,269 G23S probably damaging Het
Ubr2 A G 17: 46,930,509 probably benign Het
Vmn1r197 T C 13: 22,328,071 I54T probably benign Het
Vmn2r116 T C 17: 23,384,929 C43R probably damaging Het
Vps33a A G 5: 123,535,308 L405P probably benign Het
Zfp473 C T 7: 44,739,563 D45N probably damaging Het
Other mutations in Tars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Tars APN 15 11388221 splice site probably null
IGL00642:Tars APN 15 11394372 missense probably damaging 1.00
IGL01315:Tars APN 15 11389734 nonsense probably null
IGL02141:Tars APN 15 11391194 missense probably damaging 0.96
IGL03292:Tars APN 15 11384021 missense probably benign 0.22
R0383:Tars UTSW 15 11390325 missense probably benign
R0517:Tars UTSW 15 11394366 nonsense probably null
R0685:Tars UTSW 15 11385173 missense probably benign
R1589:Tars UTSW 15 11388175 missense probably benign 0.32
R1753:Tars UTSW 15 11394243 nonsense probably null
R2051:Tars UTSW 15 11393194 nonsense probably null
R2060:Tars UTSW 15 11394373 missense probably benign 0.03
R2216:Tars UTSW 15 11389708 missense probably benign 0.00
R3610:Tars UTSW 15 11392904 missense probably damaging 0.99
R4656:Tars UTSW 15 11394264 missense probably damaging 1.00
R4844:Tars UTSW 15 11385195 missense possibly damaging 0.85
R4974:Tars UTSW 15 11390391 missense probably damaging 1.00
R5551:Tars UTSW 15 11391982 missense probably damaging 0.97
R5992:Tars UTSW 15 11397196 missense probably damaging 1.00
R6742:Tars UTSW 15 11394341 missense probably damaging 0.98
R6778:Tars UTSW 15 11389699 missense probably benign 0.06
R6850:Tars UTSW 15 11392799 missense probably benign
R7270:Tars UTSW 15 11392019 missense probably benign 0.00
R7401:Tars UTSW 15 11392009 nonsense probably null
Z1088:Tars UTSW 15 11391884 missense probably benign 0.24
Posted On2013-11-18