Incidental Mutation 'R5631:Yars1'
ID 439845
Institutional Source Beutler Lab
Gene Symbol Yars1
Ensembl Gene ENSMUSG00000028811
Gene Name tyrosyl-tRNA synthetase 1
Synonyms Yars
MMRRC Submission 043282-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5631 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 129083595-129113033 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 129103542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 297 (L297R)
Ref Sequence ENSEMBL: ENSMUSP00000101669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106054]
AlphaFold Q91WQ3
Predicted Effect probably damaging
Transcript: ENSMUST00000106054
AA Change: L297R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811
AA Change: L297R

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
Pfam:tRNA-synt_1b 67 358 1e-78 PFAM
Pfam:tRNA_bind 406 502 7.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133992
SMART Domains Protein: ENSMUSP00000118512
Gene: ENSMUSG00000028811

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 1 75 2.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148619
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C A 11: 72,067,590 (GRCm39) V567L possibly damaging Het
Abraxas1 T G 5: 100,965,840 (GRCm39) Y68S probably damaging Het
Adamtsl1 C T 4: 86,195,160 (GRCm39) Q543* probably null Het
Anapc1 T C 2: 128,499,137 (GRCm39) Y845C possibly damaging Het
Ap4m1 A G 5: 138,173,051 (GRCm39) *98W probably null Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cramp1 T A 17: 25,204,577 (GRCm39) T275S possibly damaging Het
Dock3 T C 9: 106,832,898 (GRCm39) S1038G probably benign Het
Fancm T C 12: 65,160,617 (GRCm39) V1397A probably damaging Het
Fn1 T C 1: 71,629,355 (GRCm39) T2203A probably damaging Het
Gm57858 G C 3: 36,101,026 (GRCm39) Q49E probably damaging Het
Heatr5a T A 12: 52,002,310 (GRCm39) I209F probably benign Het
Hfm1 A G 5: 107,052,629 (GRCm39) S285P probably damaging Het
Hpx A T 7: 105,244,808 (GRCm39) C126S probably damaging Het
Ipo4 A G 14: 55,869,526 (GRCm39) V378A probably damaging Het
Ipo4 C T 14: 55,870,838 (GRCm39) V265I probably benign Het
Kcnv1 T A 15: 44,972,753 (GRCm39) T377S probably damaging Het
Kmt2a A T 9: 44,731,985 (GRCm39) probably benign Het
Ldlrad3 T C 2: 101,900,301 (GRCm39) D67G probably damaging Het
Lrrc71 T A 3: 87,646,456 (GRCm39) M535L probably benign Het
Mfhas1 G A 8: 36,055,573 (GRCm39) R16Q probably damaging Het
Mrc1 A T 2: 14,333,383 (GRCm39) K1355* probably null Het
Mrgprf A G 7: 144,862,283 (GRCm39) I282V probably benign Het
Mvb12b G T 2: 33,717,715 (GRCm39) P142Q probably damaging Het
Naip6 T C 13: 100,436,646 (GRCm39) I626V probably benign Het
Ncoa5 T C 2: 164,855,041 (GRCm39) D27G possibly damaging Het
Nrap T G 19: 56,342,553 (GRCm39) E780A probably benign Het
Oplah T C 15: 76,189,441 (GRCm39) I228V probably benign Het
Or5w1b A T 2: 87,475,952 (GRCm39) S172T probably benign Het
Pkdrej T C 15: 85,704,638 (GRCm39) M433V probably benign Het
Polr3h T A 15: 81,810,113 (GRCm39) probably benign Het
Ppfibp1 T C 6: 146,898,358 (GRCm39) Y105H probably damaging Het
Rplp2 A C 7: 141,031,172 (GRCm39) probably benign Het
Rps6ka4 T C 19: 6,808,345 (GRCm39) probably benign Het
Rspry1 A T 8: 95,355,706 (GRCm39) M1L possibly damaging Het
Runx1 C A 16: 92,492,451 (GRCm39) R64L possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc9a5 C T 8: 106,076,141 (GRCm39) H45Y possibly damaging Het
Smc4 T C 3: 68,937,645 (GRCm39) I890T probably benign Het
Smtnl1 T C 2: 84,649,098 (GRCm39) E52G probably benign Het
Stag3 T A 5: 138,294,139 (GRCm39) I319N probably damaging Het
Stt3b G A 9: 115,083,913 (GRCm39) T421I probably benign Het
Thumpd1 A G 7: 119,319,825 (GRCm39) L47P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Top2b T C 14: 16,409,882 (GRCm38) Y850H probably damaging Het
Trim34a A T 7: 103,897,946 (GRCm39) E158V probably damaging Het
Trp53i13 C A 11: 77,400,419 (GRCm39) probably null Het
Ugt3a1 T C 15: 9,361,971 (GRCm39) V249A probably damaging Het
Vmn1r128 G A 7: 21,083,300 (GRCm39) M1I probably null Het
Yju2b G T 8: 84,990,510 (GRCm39) Q41K probably damaging Het
Zkscan3 A G 13: 21,578,703 (GRCm39) L176P probably damaging Het
Other mutations in Yars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01681:Yars1 APN 4 129,099,935 (GRCm39) missense probably damaging 1.00
IGL02039:Yars1 APN 4 129,109,052 (GRCm39) missense probably damaging 1.00
IGL03324:Yars1 APN 4 129,104,328 (GRCm39) missense probably benign 0.01
R0023:Yars1 UTSW 4 129,090,981 (GRCm39) missense probably benign 0.08
R0023:Yars1 UTSW 4 129,090,981 (GRCm39) missense probably benign 0.08
R0646:Yars1 UTSW 4 129,107,732 (GRCm39) unclassified probably benign
R0746:Yars1 UTSW 4 129,091,079 (GRCm39) missense probably damaging 1.00
R0894:Yars1 UTSW 4 129,090,948 (GRCm39) missense probably damaging 0.97
R2115:Yars1 UTSW 4 129,101,716 (GRCm39) splice site probably null
R2134:Yars1 UTSW 4 129,090,992 (GRCm39) nonsense probably null
R2189:Yars1 UTSW 4 129,099,982 (GRCm39) missense probably damaging 1.00
R4190:Yars1 UTSW 4 129,093,820 (GRCm39) nonsense probably null
R4863:Yars1 UTSW 4 129,083,675 (GRCm39) unclassified probably benign
R4915:Yars1 UTSW 4 129,104,384 (GRCm39) unclassified probably benign
R5450:Yars1 UTSW 4 129,091,039 (GRCm39) missense possibly damaging 0.94
R5789:Yars1 UTSW 4 129,090,690 (GRCm39) missense probably damaging 1.00
R6384:Yars1 UTSW 4 129,090,771 (GRCm39) critical splice donor site probably null
R6837:Yars1 UTSW 4 129,103,544 (GRCm39) missense possibly damaging 0.77
R7713:Yars1 UTSW 4 129,104,291 (GRCm39) missense probably benign 0.00
R8906:Yars1 UTSW 4 129,090,747 (GRCm39) missense probably damaging 1.00
R9115:Yars1 UTSW 4 129,109,143 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- TGCAGTCCTAGCTCAAAAGAAG -3'
(R):5'- CAGTCTCACAGCACACATTTTG -3'

Sequencing Primer
(F):5'- GAGAAAAGGTGTATAATCCATCAAGG -3'
(R):5'- TTTGTATATGAAACCAGGGCAGCC -3'
Posted On 2016-11-08