Incidental Mutation 'R6384:Yars1'
ID 515493
Institutional Source Beutler Lab
Gene Symbol Yars1
Ensembl Gene ENSMUSG00000028811
Gene Name tyrosyl-tRNA synthetase 1
Synonyms Yars
MMRRC Submission 044533-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6384 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 129083595-129113033 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 129090771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106054]
AlphaFold Q91WQ3
Predicted Effect probably null
Transcript: ENSMUST00000106054
SMART Domains Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811

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 noncoding transcript
Transcript: ENSMUST00000128287
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: ENSMUST00000140708
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,790,066 (GRCm39) T97S probably benign Het
Adam34 T A 8: 44,103,836 (GRCm39) D603V probably benign Het
Adamts5 C T 16: 85,659,716 (GRCm39) V859I probably benign Het
Alb T A 5: 90,620,499 (GRCm39) D536E possibly damaging Het
Amz2 A G 11: 109,319,860 (GRCm39) Y82C probably damaging Het
Asxl1 T C 2: 153,233,744 (GRCm39) probably null Het
Bach1 C T 16: 87,516,745 (GRCm39) Q429* probably null Het
Bcl6 A G 16: 23,793,615 (GRCm39) Y111H probably damaging Het
Ccnj T C 19: 40,834,451 (GRCm39) V338A probably benign Het
Cdca3 C T 6: 124,809,382 (GRCm39) P174L probably damaging Het
Cdk17 T C 10: 93,047,827 (GRCm39) L25P probably damaging Het
Cdr2 G A 7: 120,581,351 (GRCm39) probably null Het
Cyp2c38 A T 19: 39,380,737 (GRCm39) probably null Het
Ednra T C 8: 78,415,723 (GRCm39) N175D probably damaging Het
Elp3 T C 14: 65,797,660 (GRCm39) Y337C probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Eps15l1 A T 8: 73,122,554 (GRCm39) probably null Het
F11r A G 1: 171,288,508 (GRCm39) N117S probably benign Het
Foxp2 C T 6: 15,437,947 (GRCm39) T716I probably damaging Het
Gnaq A G 19: 16,293,377 (GRCm39) probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gpr158 T C 2: 21,831,099 (GRCm39) M733T probably damaging Het
Hdac7 G A 15: 97,709,387 (GRCm39) Q48* probably null Het
Hmga2 G A 10: 120,206,612 (GRCm39) probably benign Het
Itgb7 A G 15: 102,132,886 (GRCm39) V142A probably benign Het
Kif5a T C 10: 127,078,644 (GRCm39) N334D probably damaging Het
Lrrc47 T C 4: 154,100,317 (GRCm39) S298P probably benign Het
Map3k1 A T 13: 111,887,064 (GRCm39) S1415R probably damaging Het
Mdn1 T A 4: 32,670,607 (GRCm39) L424Q probably damaging Het
Numb A C 12: 83,850,748 (GRCm39) L154R probably damaging Het
Or8g27 T C 9: 39,129,274 (GRCm39) V207A probably benign Het
Or8k30 A G 2: 86,339,381 (GRCm39) K193E probably benign Het
Pdcd5 G T 7: 35,346,334 (GRCm39) A92E possibly damaging Het
Pdcl2 C T 5: 76,478,855 (GRCm39) probably null Het
Rbfa T C 18: 80,235,996 (GRCm39) Y251C probably damaging Het
Rgsl1 G A 1: 153,703,291 (GRCm39) T120I possibly damaging Het
Serpina3g A G 12: 104,206,655 (GRCm39) Q152R probably null Het
Setx T C 2: 29,063,570 (GRCm39) S2289P probably damaging Het
Slc6a16 A G 7: 44,907,017 (GRCm39) probably null Het
Slco1a6 C T 6: 142,055,105 (GRCm39) D280N probably benign Het
Syde2 T A 3: 145,704,568 (GRCm39) Y240N probably damaging Het
Synpo2 G A 3: 122,906,698 (GRCm39) Q873* probably null Het
Tlr2 A G 3: 83,744,301 (GRCm39) V594A probably benign Het
Ttc16 C T 2: 32,657,561 (GRCm39) A512T probably damaging Het
Tubb5 T C 17: 36,148,938 (GRCm39) E3G probably damaging Het
Vmn2r112 T C 17: 22,824,136 (GRCm39) Y464H probably damaging Het
Xcr1 T A 9: 123,684,847 (GRCm39) H305L 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
R5631:Yars1 UTSW 4 129,103,542 (GRCm39) missense probably damaging 1.00
R5789:Yars1 UTSW 4 129,090,690 (GRCm39) missense probably damaging 1.00
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'- TGAGAACGTGTTTGGACTCCAG -3'
(R):5'- CAGGTATGCATGGAGGTCTG -3'

Sequencing Primer
(F):5'- AGTGACGTTTGCCCACAG -3'
(R):5'- TCTGCAAACAGGATGGTTACC -3'
Posted On 2018-05-04