Incidental Mutation 'IGL02039:Yars'
ID184653
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 #IGL02039
Quality Score
Status
Chromosome4
Chromosomal Location129189760-129219607 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 129215259 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 428 (I428F)
Ref Sequence ENSEMBL: ENSMUSP00000101669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052602] [ENSMUST00000097873] [ENSMUST00000106051] [ENSMUST00000106054]
Predicted Effect probably benign
Transcript: ENSMUST00000052602
SMART Domains Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390

DomainStartEndE-ValueType
low complexity region 2 30 N/A INTRINSIC
low complexity region 39 80 N/A INTRINSIC
low complexity region 209 215 N/A INTRINSIC
low complexity region 273 286 N/A INTRINSIC
low complexity region 365 382 N/A INTRINSIC
low complexity region 393 418 N/A INTRINSIC
low complexity region 449 464 N/A INTRINSIC
low complexity region 492 499 N/A INTRINSIC
low complexity region 532 550 N/A INTRINSIC
low complexity region 555 588 N/A INTRINSIC
low complexity region 621 634 N/A INTRINSIC
low complexity region 657 690 N/A INTRINSIC
low complexity region 724 739 N/A INTRINSIC
low complexity region 743 773 N/A INTRINSIC
low complexity region 810 833 N/A INTRINSIC
low complexity region 916 930 N/A INTRINSIC
low complexity region 988 1020 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097873
SMART Domains Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390

DomainStartEndE-ValueType
low complexity region 164 170 N/A INTRINSIC
low complexity region 228 241 N/A INTRINSIC
low complexity region 320 337 N/A INTRINSIC
low complexity region 348 373 N/A INTRINSIC
low complexity region 404 419 N/A INTRINSIC
low complexity region 447 454 N/A INTRINSIC
low complexity region 487 505 N/A INTRINSIC
low complexity region 510 543 N/A INTRINSIC
low complexity region 576 589 N/A INTRINSIC
low complexity region 612 645 N/A INTRINSIC
low complexity region 679 694 N/A INTRINSIC
low complexity region 698 728 N/A INTRINSIC
low complexity region 765 788 N/A INTRINSIC
low complexity region 871 885 N/A INTRINSIC
low complexity region 943 975 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106051
SMART Domains Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390

DomainStartEndE-ValueType
low complexity region 152 158 N/A INTRINSIC
low complexity region 216 229 N/A INTRINSIC
low complexity region 308 325 N/A INTRINSIC
low complexity region 336 361 N/A INTRINSIC
low complexity region 392 407 N/A INTRINSIC
low complexity region 435 442 N/A INTRINSIC
low complexity region 475 493 N/A INTRINSIC
low complexity region 498 531 N/A INTRINSIC
low complexity region 564 577 N/A INTRINSIC
low complexity region 600 633 N/A INTRINSIC
low complexity region 667 682 N/A INTRINSIC
low complexity region 686 716 N/A INTRINSIC
low complexity region 753 776 N/A INTRINSIC
low complexity region 859 873 N/A INTRINSIC
low complexity region 931 963 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106054
AA Change: I428F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811
AA Change: I428F

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: ENSMUST00000146106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148619
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,297,193 Y2313* probably null Het
Arhgef12 A G 9: 42,972,267 I1323T probably benign Het
C87436 A G 6: 86,453,695 M366V probably benign Het
Cep290 T C 10: 100,514,602 probably null Het
Cpsf3 T C 12: 21,301,456 M326T probably damaging Het
Cpxm2 A G 7: 132,047,753 V64A probably damaging Het
Csnka2ip G A 16: 64,478,594 S25F probably damaging Het
Cyfip1 T C 7: 55,875,021 F168L possibly damaging Het
Dhx8 T C 11: 101,764,027 probably null Het
Dnah2 T A 11: 69,499,212 I736F probably damaging Het
Erf T C 7: 25,244,544 E454G possibly damaging Het
Flnc T C 6: 29,450,719 V1482A probably benign Het
Fmn1 T C 2: 113,365,080 L375P unknown Het
Foxm1 T C 6: 128,369,360 Y85H probably damaging Het
Frem3 A G 8: 80,612,971 E631G probably damaging Het
Fsip1 T C 2: 118,240,414 D265G probably damaging Het
Gprc5c C T 11: 114,864,486 Q330* probably null Het
Grin1 C T 2: 25,305,342 V246M probably damaging Het
Ifitm3 C A 7: 141,010,650 probably benign Het
Igdcc3 G A 9: 65,183,880 V648I probably benign Het
Ighv5-2 A G 12: 113,578,594 I87T probably benign Het
Imp4 G A 1: 34,443,768 probably null Het
Ino80 T C 2: 119,380,073 N1327D probably damaging Het
Kif5a T C 10: 127,233,867 I830V possibly damaging Het
Mgea5 A T 19: 45,773,703 V237E probably damaging Het
Muc5b A G 7: 141,871,164 Y4696C possibly damaging Het
Nrl T C 14: 55,522,110 E120G probably benign Het
Nsmaf T A 4: 6,424,995 probably benign Het
Nup35 T C 2: 80,642,775 M64T probably benign Het
Nxpe2 T A 9: 48,319,659 N470I probably benign Het
Olfr109 T A 17: 37,466,449 I81N possibly damaging Het
Olfr1502 C T 19: 13,862,719 Q309* probably null Het
Os9 G A 10: 127,096,291 P604S possibly damaging Het
Pitpnm1 A G 19: 4,105,032 T287A probably benign Het
Pkd2l2 G T 18: 34,435,368 probably null Het
Pola2 A T 19: 5,948,469 I355N probably damaging Het
Pp2d1 T A 17: 53,515,994 R15* probably null Het
Prpf40a T C 2: 53,144,803 D749G probably damaging Het
Rhoh T C 5: 65,892,638 S84P probably damaging Het
Slc12a7 T C 13: 73,809,094 probably null Het
Slc37a2 A G 9: 37,233,684 I454T probably damaging Het
Smarca2 A G 19: 26,716,137 D28G probably damaging Het
Socs4 T C 14: 47,290,193 I195T probably benign Het
Svep1 A G 4: 58,123,980 probably null Het
Thbd T C 2: 148,406,542 T469A probably benign Het
Thoc5 T C 11: 4,922,027 probably null Het
Vmn1r173 G T 7: 23,702,896 M185I probably benign Het
Vmn1r59 T C 7: 5,454,381 S127G probably benign Het
Vmn2r6 T C 3: 64,556,189 E408G probably damaging Het
Zglp1 T C 9: 21,067,039 E14G possibly damaging Het
Other mutations in Yars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01681:Yars APN 4 129206142 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 On2014-05-07