Incidental Mutation 'R5551:Tars1'
ID 435147
Institutional Source Beutler Lab
Gene Symbol Tars1
Ensembl Gene ENSMUSG00000022241
Gene Name threonyl-tRNA synthetase 1
Synonyms D15Wsu59e, Tars, ThrRS
MMRRC Submission 043108-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R5551 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 11383749-11399744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 11392068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 248 (T248M)
Ref Sequence ENSEMBL: ENSMUSP00000022849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022849] [ENSMUST00000228814]
AlphaFold Q9D0R2
Predicted Effect probably damaging
Transcript: ENSMUST00000022849
AA Change: T248M

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: T248M

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB041806 G T 4: 138,123,312 (GRCm39) P3T probably damaging Het
Abl1 C T 2: 31,691,682 (GRCm39) A1048V probably benign Het
Acap2 A G 16: 30,923,726 (GRCm39) V659A probably damaging Het
Acox1 A G 11: 116,080,317 (GRCm39) S29P possibly damaging Het
Adamts1 A G 16: 85,594,634 (GRCm39) I405T probably benign Het
Afm A T 5: 90,679,511 (GRCm39) E335V probably null Het
Akap6 C T 12: 52,842,747 (GRCm39) P32S probably damaging Het
Alk T C 17: 72,182,028 (GRCm39) M1332V possibly damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Atp2c1 C A 9: 105,336,936 (GRCm39) A16S probably damaging Het
Ccdc141 T C 2: 76,844,753 (GRCm39) E1438G probably damaging Het
Csmd2 T C 4: 128,404,741 (GRCm39) Y2376H possibly damaging Het
Csmd3 T C 15: 48,177,492 (GRCm39) T349A probably benign Het
Ctsr A T 13: 61,307,357 (GRCm39) M313K probably damaging Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,031,718 (GRCm39) S3516P possibly damaging Het
Ehd4 A G 2: 119,958,100 (GRCm39) S162P possibly damaging Het
Ets2 T C 16: 95,513,165 (GRCm39) W114R probably damaging Het
Fignl1 A T 11: 11,751,603 (GRCm39) V484E probably damaging Het
Golph3 C A 15: 12,321,922 (GRCm39) S35R probably benign Het
Gzf1 T C 2: 148,526,248 (GRCm39) Y240H probably damaging Het
Hook3 A G 8: 26,558,639 (GRCm39) F75S possibly damaging Het
Ifi209 T A 1: 173,468,763 (GRCm39) S198T probably benign Het
Iqch A T 9: 63,403,535 (GRCm39) probably null Het
Katnip T C 7: 125,419,249 (GRCm39) F472S probably damaging Het
Lrrk2 C T 15: 91,696,553 (GRCm39) T2447I probably benign Het
Mesp2 T C 7: 79,461,367 (GRCm39) S231P probably benign Het
Muc5b T C 7: 141,422,240 (GRCm39) C4459R possibly damaging Het
Myh10 A G 11: 68,659,113 (GRCm39) E497G possibly damaging Het
Nalcn A T 14: 123,515,698 (GRCm39) V1701E possibly damaging Het
Nat8f1 T C 6: 85,887,891 (GRCm39) D23G probably damaging Het
Nfia G A 4: 97,902,497 (GRCm39) E250K probably damaging Het
Nup155 A G 15: 8,177,817 (GRCm39) M1067V probably benign Het
Or4k36 T C 2: 111,145,916 (GRCm39) F31L possibly damaging Het
Pde4d T A 13: 110,084,930 (GRCm39) probably null Het
Rtn4 G A 11: 29,691,011 (GRCm39) V1101I probably damaging Het
Sema4c A G 1: 36,591,398 (GRCm39) Y348H probably damaging Het
Sema6a A G 18: 47,381,595 (GRCm39) V958A possibly damaging Het
Sez6l2 A G 7: 126,566,002 (GRCm39) Y677C probably damaging Het
Smad5 T C 13: 56,883,654 (GRCm39) C347R probably damaging Het
Smim19 A G 8: 22,953,383 (GRCm39) Y95H probably benign Het
Srrm2 C A 17: 24,037,450 (GRCm39) probably benign Het
Ssb A G 2: 69,701,474 (GRCm39) K390E probably damaging Het
Tcirg1 A T 19: 3,948,858 (GRCm39) F442L probably damaging Het
Tex55 A G 16: 38,648,336 (GRCm39) Y258H probably benign Het
Tlk2 A G 11: 105,112,133 (GRCm39) E162G probably benign Het
Tmc6 A G 11: 117,660,271 (GRCm39) C656R probably damaging Het
Ttn G T 2: 76,719,406 (GRCm39) probably benign Het
Uqcrc2 C T 7: 120,244,461 (GRCm39) T201I probably damaging Het
Zfp282 G T 6: 47,867,579 (GRCm39) A252S possibly damaging Het
Zfp473 G C 7: 44,383,575 (GRCm39) P253A probably benign Het
Zfp541 A G 7: 15,824,786 (GRCm39) N1068D probably damaging Het
Zfp946 A G 17: 22,674,365 (GRCm39) Q373R probably damaging Het
Zmat2 G A 18: 36,927,010 (GRCm39) G6R probably benign 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
IGL01459:Tars1 APN 15 11,391,940 (GRCm39) missense possibly damaging 0.76
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
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
Predicted Primers PCR Primer
(F):5'- GCCTCACCTTGTGTATCTTCAAAG -3'
(R):5'- TGATGTTATTAGCCAGCCCTTC -3'

Sequencing Primer
(F):5'- CAAAGTCTTAATCTTGCCGGTG -3'
(R):5'- CCCTTCAAGTCGTGTGTCAGAG -3'
Posted On 2016-10-24