Incidental Mutation 'R6778:Tars1'
ID 531387
Institutional Source Beutler Lab
Gene Symbol Tars1
Ensembl Gene ENSMUSG00000022241
Gene Name threonyl-tRNA synthetase 1
Synonyms D15Wsu59e, Tars, ThrRS
MMRRC Submission 044894-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R6778 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 11383749-11399744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11389785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 375 (N375S)
Ref Sequence ENSEMBL: ENSMUSP00000022849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022849] [ENSMUST00000228814]
AlphaFold Q9D0R2
Predicted Effect probably benign
Transcript: ENSMUST00000022849
AA Change: N375S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: N375S

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: ENSMUST00000228814
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 T A 10: 61,061,231 (GRCm39) N403Y probably damaging Het
Akap6 A G 12: 53,072,599 (GRCm39) E989G probably damaging Het
Aoc2 A G 11: 101,216,187 (GRCm39) N90S probably damaging Het
Apol9a T C 15: 77,288,533 (GRCm39) Y278C probably benign Het
Casq2 T A 3: 102,035,247 (GRCm39) probably null Het
Ccdc7a T A 8: 129,547,601 (GRCm39) T1284S possibly damaging Het
Dlat A G 9: 50,562,157 (GRCm39) L289P probably damaging Het
Dnah8 C T 17: 30,854,640 (GRCm39) P101S probably benign Het
Dzip3 C A 16: 48,802,446 (GRCm39) A28S probably benign Het
Ffar4 A G 19: 38,102,112 (GRCm39) E249G possibly damaging Het
Fubp3 A T 2: 31,488,685 (GRCm39) K180N possibly damaging Het
Gm7489 T A 15: 53,749,348 (GRCm39) probably benign Het
Ifitm6 A T 7: 140,596,056 (GRCm39) M59K possibly damaging Het
Igkv4-80 A T 6: 68,993,545 (GRCm39) Y115* probably null Het
Igsf21 G T 4: 139,761,959 (GRCm39) R240S probably benign Het
Kank4 A T 4: 98,649,742 (GRCm39) N942K probably benign Het
Man2a1 C A 17: 65,021,630 (GRCm39) T35K possibly damaging Het
Mvk T A 5: 114,590,441 (GRCm39) D193E probably benign Het
Npas2 T A 1: 39,364,381 (GRCm39) M241K possibly damaging Het
Npsr1 T A 9: 24,165,914 (GRCm39) I100N possibly damaging Het
Olfml2b A G 1: 170,472,639 (GRCm39) D50G probably damaging Het
Or10d4c T A 9: 39,558,043 (GRCm39) V7E probably damaging Het
Pcnx1 A G 12: 81,965,645 (GRCm39) D604G probably damaging Het
Pitx2 C T 3: 129,012,392 (GRCm39) P254L probably damaging Het
Rdh10 T C 1: 16,176,408 (GRCm39) F56S probably damaging Het
Rin1 T C 19: 5,104,914 (GRCm39) L647P probably damaging Het
Sgk3 T A 1: 9,956,369 (GRCm39) probably null Het
Sgpp1 A G 12: 75,763,068 (GRCm39) I371T probably benign Het
Slc12a9 T C 5: 137,313,343 (GRCm39) Y872C possibly damaging Het
Spata31f3 T C 4: 42,868,522 (GRCm39) K367R possibly damaging Het
Syne1 A G 10: 5,052,406 (GRCm39) F7487L probably damaging Het
Tbc1d31 A G 15: 57,801,425 (GRCm39) Y320C probably damaging Het
Tbl1xr1 T A 3: 22,243,946 (GRCm39) F73L probably benign Het
Tmem145 G A 7: 25,010,801 (GRCm39) V378I probably benign Het
Tmprss11d T C 5: 86,457,209 (GRCm39) H150R probably benign Het
Tnc T G 4: 63,913,835 (GRCm39) I1326L probably benign Het
Trpc7 T C 13: 56,952,500 (GRCm39) Y502C probably damaging Het
Usp32 T C 11: 84,916,512 (GRCm39) I811V probably benign Het
Vmn1r71 C T 7: 10,482,143 (GRCm39) A182T probably benign Het
Wdr47 T A 3: 108,540,412 (GRCm39) N602K 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
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
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'- TCCCTATCAATGCAGAGCTG -3'
(R):5'- GATGGAACTTCTGAGCCCTG -3'

Sequencing Primer
(F):5'- AGGTTAAGAGCCTTGCTACTC -3'
(R):5'- TGAGCCCTGATAAATGTGCC -3'
Posted On 2018-08-29