Incidental Mutation 'IGL01681:Yars'
ID103815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Yars
Ensembl Gene ENSMUSG00000028811
Gene Nametyrosyl-tRNA synthetase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01681
Quality Score
Status
Chromosome4
Chromosomal Location129189760-129219607 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129206142 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 211 (E211G)
Ref Sequence ENSEMBL: ENSMUSP00000101669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106054]
Predicted Effect probably damaging
Transcript: ENSMUST00000106054
AA Change: E211G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811
AA Change: E211G

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: ENSMUST00000140708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146106
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. 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T A 18: 80,127,888 E1102V probably damaging Het
Appl2 T A 10: 83,614,301 I236F possibly damaging Het
Asb15 C A 6: 24,567,138 T486K probably damaging Het
Bsdc1 T C 4: 129,465,348 probably null Het
Cts8 G T 13: 61,253,619 Q61K probably benign Het
Cyp2d34 C T 15: 82,617,131 probably null Het
Dnah12 A G 14: 26,722,160 T575A probably benign Het
Dync2h1 T C 9: 7,142,196 probably null Het
Fam170a A G 18: 50,282,235 D316G possibly damaging Het
Gtf2h3 T A 5: 124,594,791 L216Q probably damaging Het
Heatr6 T A 11: 83,765,000 S306T probably benign Het
Hey2 A G 10: 30,834,137 S207P probably benign Het
Kng2 T A 16: 22,997,017 probably benign Het
Lama2 C T 10: 27,265,045 E653K probably benign Het
Lrrcc1 T C 3: 14,548,226 V37A probably benign Het
Neb T C 2: 52,201,486 D5085G probably damaging Het
Nexn T C 3: 152,243,870 M321V possibly damaging Het
Nsmce3 A G 7: 64,872,473 I149T probably benign Het
Oxct1 T G 15: 4,101,844 S405A possibly damaging Het
Pdpr T A 8: 111,132,936 N703K probably damaging Het
Scn10a A T 9: 119,694,077 D83E probably damaging Het
Slc47a2 C T 11: 61,338,040 A104T probably damaging Het
Slc4a2 A G 5: 24,434,187 I393V probably damaging Het
Thoc6 A T 17: 23,669,883 L184M possibly damaging Het
Tjp2 C T 19: 24,134,849 probably null Het
Tmem63b A G 17: 45,663,571 L591P probably damaging Het
Tnrc6b A G 15: 80,879,311 probably null Het
Trmt5 G T 12: 73,282,603 probably benign Het
Ubap1l T A 9: 65,373,919 M293K probably benign Het
Zbbx A C 3: 75,052,478 Y595D probably damaging Het
Zc3h10 G A 10: 128,545,240 Q83* probably null Het
Zcchc3 T C 2: 152,414,005 N258S probably damaging Het
Other mutations in Yars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02039:Yars APN 4 129215259 missense probably damaging 1.00
IGL03324:Yars APN 4 129210535 missense probably benign 0.01
R0023:Yars UTSW 4 129197188 missense probably benign 0.08
R0023:Yars UTSW 4 129197188 missense probably benign 0.08
R0646:Yars UTSW 4 129213939 unclassified probably benign
R0746:Yars UTSW 4 129197286 missense probably damaging 1.00
R0894:Yars UTSW 4 129197155 missense probably damaging 0.97
R2115:Yars UTSW 4 129207923 intron probably null
R2134:Yars UTSW 4 129197199 nonsense probably null
R2189:Yars UTSW 4 129206189 missense probably damaging 1.00
R4190:Yars UTSW 4 129200027 nonsense probably null
R4863:Yars UTSW 4 129189882 unclassified probably benign
R4915:Yars UTSW 4 129210591 unclassified probably benign
R5450:Yars UTSW 4 129197246 missense possibly damaging 0.94
R5631:Yars UTSW 4 129209749 missense probably damaging 1.00
R5789:Yars UTSW 4 129196897 missense probably damaging 1.00
R6384:Yars UTSW 4 129196978 critical splice donor site probably null
R6837:Yars UTSW 4 129209751 missense possibly damaging 0.77
R7713:Yars UTSW 4 129210498 missense probably benign 0.00
Posted On2014-01-21