Incidental Mutation 'IGL03292:Tars'
ID415944
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: 0.954) question?
Stock #IGL03292
Quality Score
Status
Chromosome15
Chromosomal Location11382301-11399665 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 11384021 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 720 (E720V)
Ref Sequence ENSEMBL: ENSMUSP00000022849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022849] [ENSMUST00000228814]
Predicted Effect probably benign
Transcript: ENSMUST00000022849
AA Change: E720V

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: E720V

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: 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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,715,827 C713Y possibly damaging Het
Arhgap45 A G 10: 80,020,969 N205S probably benign Het
Arhgef5 T G 6: 43,280,246 F1244V probably damaging Het
Bbs2 A G 8: 94,075,121 probably null Het
Chsy1 A C 7: 66,125,372 M150L probably benign Het
Dync1h1 T A 12: 110,666,555 probably null Het
Efhc1 T C 1: 20,960,272 I143T possibly damaging Het
Elf4 A C X: 48,414,706 F642C probably damaging Het
Fgfr1 A G 8: 25,557,755 D128G possibly damaging Het
Fras1 T A 5: 96,707,491 I1953N probably damaging Het
Frmpd4 A T X: 167,477,590 I1052K probably benign Het
Ift52 T A 2: 163,023,400 I57N probably damaging Het
Lilrb4a G A 10: 51,494,846 probably null Het
Mob3a A T 10: 80,691,086 I135N probably benign Het
Pcdhb16 T A 18: 37,480,384 I799N probably damaging Het
Rad52 T C 6: 119,918,973 L265P possibly damaging Het
Sorbs1 T A 19: 40,373,565 Q155L possibly damaging Het
Taok1 A T 11: 77,540,136 M821K probably benign Het
Tec T C 5: 72,757,364 E603G probably null Het
Timp1 A G X: 20,872,818 T56A probably benign Het
Txnrd2 C A 16: 18,477,729 H511Q possibly damaging Het
Ubr4 A T 4: 139,440,435 D2743V probably damaging Het
Vmn1r211 C T 13: 22,852,443 G18D probably damaging Het
Zfhx4 C T 3: 5,411,780 Q3127* probably null 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
IGL01459:Tars APN 15 11391854 missense possibly damaging 0.76
IGL02141:Tars APN 15 11391194 missense probably damaging 0.96
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 On2016-08-02