Incidental Mutation 'IGL01459:Tars1'
ID 87935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tars1
Ensembl Gene ENSMUSG00000022241
Gene Name threonyl-tRNA synthetase 1
Synonyms D15Wsu59e, Tars, ThrRS
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL01459
Quality Score
Status
Chromosome 15
Chromosomal Location 11383749-11399744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11391940 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D0R2
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: 122,607,715 (GRCm39) S265P probably benign Het
Brwd1 A G 16: 95,848,620 (GRCm39) F520L probably damaging Het
Cdh5 A T 8: 104,864,449 (GRCm39) D470V probably damaging Het
Cdr2l A G 11: 115,281,378 (GRCm39) R41G probably damaging Het
Csrnp1 C T 9: 119,802,024 (GRCm39) C345Y probably damaging Het
Dscaml1 T A 9: 45,653,981 (GRCm39) Y1419* probably null Het
Entpd3 T C 9: 120,391,007 (GRCm39) S420P probably damaging Het
Epb41 A G 4: 131,691,439 (GRCm39) probably benign Het
Erg A G 16: 95,162,141 (GRCm39) S322P probably damaging Het
Fndc3b T A 3: 27,515,889 (GRCm39) H639L probably benign Het
Grwd1 C T 7: 45,479,834 (GRCm39) probably null Het
Kbtbd8 A G 6: 95,099,789 (GRCm39) N356D probably benign Het
Kif15 A G 9: 122,804,820 (GRCm39) E189G probably damaging Het
Kif2b T C 11: 91,467,849 (GRCm39) K145E possibly damaging Het
Kif5c A G 2: 49,625,569 (GRCm39) D613G probably benign Het
Lipe T G 7: 25,082,967 (GRCm39) Q457P probably damaging Het
Lrp1b A T 2: 40,750,726 (GRCm39) I2946N probably damaging Het
Mtf2 C T 5: 108,228,809 (GRCm39) P42S probably damaging Het
Neb A G 2: 52,066,804 (GRCm39) S5886P probably damaging Het
Nmu A G 5: 76,506,196 (GRCm39) probably null Het
Nup153 T C 13: 46,866,402 (GRCm39) E214G possibly damaging Het
Or14c44 A C 7: 86,061,759 (GRCm39) N104T probably damaging Het
Or6c66b G A 10: 129,376,410 (GRCm39) M1I probably null Het
Paqr3 T C 5: 97,243,796 (GRCm39) D306G probably benign Het
Plxna2 A G 1: 194,446,878 (GRCm39) D796G probably benign Het
Prkra A G 2: 76,460,780 (GRCm39) L306S probably damaging Het
Psg20 T A 7: 18,416,638 (GRCm39) E159D probably damaging Het
Ptchd3 G T 11: 121,721,246 (GRCm39) V40L probably benign Het
Rfx5 T C 3: 94,865,086 (GRCm39) probably benign Het
Rimbp2 A G 5: 128,865,275 (GRCm39) probably null Het
Slc22a4 C A 11: 53,877,303 (GRCm39) probably null Het
Tatdn2 T A 6: 113,686,992 (GRCm39) probably null Het
Tenm4 C T 7: 96,378,592 (GRCm39) P399L probably damaging Het
Tmem135 A T 7: 88,800,646 (GRCm39) D325E probably damaging Het
Tmprss7 A T 16: 45,483,706 (GRCm39) I556N probably benign Het
Tom1l2 C T 11: 60,171,095 (GRCm39) G23S probably damaging Het
Ubr2 A G 17: 47,241,435 (GRCm39) probably benign Het
Vmn1r197 T C 13: 22,512,241 (GRCm39) I54T probably benign Het
Vmn2r116 T C 17: 23,603,903 (GRCm39) C43R probably damaging Het
Vps33a A G 5: 123,673,371 (GRCm39) L405P probably benign Het
Zfp473 C T 7: 44,388,987 (GRCm39) D45N probably damaging Het
Other mutations in Tars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Tars1 APN 15 11,388,307 (GRCm39) splice site probably null
IGL00642:Tars1 APN 15 11,394,458 (GRCm39) missense probably damaging 1.00
IGL01315:Tars1 APN 15 11,389,820 (GRCm39) nonsense probably null
IGL02141:Tars1 APN 15 11,391,280 (GRCm39) missense probably damaging 0.96
IGL03292:Tars1 APN 15 11,384,107 (GRCm39) missense probably benign 0.22
R0383:Tars1 UTSW 15 11,390,411 (GRCm39) missense probably benign
R0517:Tars1 UTSW 15 11,394,452 (GRCm39) nonsense probably null
R0685:Tars1 UTSW 15 11,385,259 (GRCm39) missense probably benign
R1589:Tars1 UTSW 15 11,388,261 (GRCm39) missense probably benign 0.32
R1753:Tars1 UTSW 15 11,394,329 (GRCm39) nonsense probably null
R2051:Tars1 UTSW 15 11,393,280 (GRCm39) nonsense probably null
R2060:Tars1 UTSW 15 11,394,459 (GRCm39) missense probably benign 0.03
R2216:Tars1 UTSW 15 11,389,794 (GRCm39) missense probably benign 0.00
R3610:Tars1 UTSW 15 11,392,990 (GRCm39) missense probably damaging 0.99
R4656:Tars1 UTSW 15 11,394,350 (GRCm39) missense probably damaging 1.00
R4844:Tars1 UTSW 15 11,385,281 (GRCm39) missense possibly damaging 0.85
R4974:Tars1 UTSW 15 11,390,477 (GRCm39) missense probably damaging 1.00
R5551:Tars1 UTSW 15 11,392,068 (GRCm39) missense probably damaging 0.97
R5992:Tars1 UTSW 15 11,397,282 (GRCm39) missense probably damaging 1.00
R6742:Tars1 UTSW 15 11,394,427 (GRCm39) missense probably damaging 0.98
R6778:Tars1 UTSW 15 11,389,785 (GRCm39) missense probably benign 0.06
R6850:Tars1 UTSW 15 11,392,885 (GRCm39) missense probably benign
R7270:Tars1 UTSW 15 11,392,105 (GRCm39) missense probably benign 0.00
R7401:Tars1 UTSW 15 11,392,095 (GRCm39) nonsense probably null
R7743:Tars1 UTSW 15 11,399,458 (GRCm39) splice site probably null
R8062:Tars1 UTSW 15 11,388,400 (GRCm39) missense possibly damaging 0.78
R8852:Tars1 UTSW 15 11,393,348 (GRCm39) missense probably benign 0.02
R8942:Tars1 UTSW 15 11,384,183 (GRCm39) missense probably benign 0.27
R9205:Tars1 UTSW 15 11,397,265 (GRCm39) critical splice donor site probably null
R9362:Tars1 UTSW 15 11,387,616 (GRCm39) missense probably damaging 1.00
R9668:Tars1 UTSW 15 11,394,446 (GRCm39) nonsense probably null
Z1088:Tars1 UTSW 15 11,391,970 (GRCm39) missense probably benign 0.24
Posted On 2013-11-18