Incidental Mutation 'IGL00225:Hars'
ID2066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hars
Ensembl Gene ENSMUSG00000001380
Gene Namehistidyl-tRNA synthetase
SynonymsMMHRS
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock #IGL00225
Quality Score
Status
Chromosome18
Chromosomal Location36766530-36783205 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 36768172 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 409 (T409M)
Ref Sequence ENSEMBL: ENSMUSP00000001416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001416] [ENSMUST00000049323] [ENSMUST00000061522]
Predicted Effect probably damaging
Transcript: ENSMUST00000001416
AA Change: T409M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380
AA Change: T409M

DomainStartEndE-ValueType
WHEP-TRS 7 60 5.37e-11 SMART
Pfam:tRNA-synt_His 61 389 1.9e-41 PFAM
Pfam:HGTP_anticodon2 404 507 3.3e-12 PFAM
Pfam:HGTP_anticodon 410 501 4.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049323
SMART Domains Protein: ENSMUSP00000039010
Gene: ENSMUSG00000042660

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
WD40 31 67 4.6e0 SMART
WD40 74 113 1.12e-2 SMART
WD40 116 155 2.4e-2 SMART
WD40 158 197 2.76e-2 SMART
WD40 202 239 1.72e0 SMART
WD40 284 324 2.01e-4 SMART
low complexity region 380 388 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061522
SMART Domains Protein: ENSMUSP00000054412
Gene: ENSMUSG00000044595

DomainStartEndE-ValueType
low complexity region 43 58 N/A INTRINSIC
RRM 59 132 2.49e-10 SMART
RRM 139 214 3.01e-1 SMART
Pfam:DND1_DSRM 253 333 1.1e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124038
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155827
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 are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit deafness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Flii T C 11: 60,723,415 N93D probably benign Het
Gm8356 T C 14: 6,537,141 K24E probably damaging Het
Ivns1abp A G 1: 151,351,112 probably null Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kdm4c T G 4: 74,345,567 V696G probably benign Het
Klrb1f T A 6: 129,053,175 probably benign Het
Lrp4 G A 2: 91,495,026 V1399I probably benign Het
Mki67 A G 7: 135,690,120 V3168A probably benign Het
Nf1 T A 11: 79,395,905 I177K probably damaging Het
Nnt A T 13: 119,369,997 N371K probably damaging Het
Olfr472 C T 7: 107,903,104 P129L probably damaging Het
Olfr60 A G 7: 140,345,210 Y260H probably damaging Het
Oraov1 G A 7: 144,917,668 G86D possibly damaging Het
Prkdc G T 16: 15,809,644 V3389L possibly damaging Het
Prr16 T A 18: 51,303,120 Y224N possibly damaging Het
Ptgs1 G A 2: 36,237,219 C39Y probably damaging Het
Sla T C 15: 66,782,630 D269G possibly damaging Het
Stk38l T A 6: 146,758,473 M1K probably null Het
Trim24 T A 6: 37,903,648 N160K possibly damaging Het
Zfp451 A G 1: 33,786,540 probably benign Het
Other mutations in Hars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01993:Hars APN 18 36770212 missense probably damaging 1.00
IGL03079:Hars APN 18 36770503 missense probably damaging 1.00
P0040:Hars UTSW 18 36773575 missense probably damaging 0.99
R0542:Hars UTSW 18 36771181 missense probably benign 0.23
R0630:Hars UTSW 18 36771389 missense probably damaging 1.00
R1171:Hars UTSW 18 36771414 missense possibly damaging 0.81
R1711:Hars UTSW 18 36771103 missense probably damaging 1.00
R1744:Hars UTSW 18 36770832 missense probably benign 0.00
R1873:Hars UTSW 18 36767241 missense probably damaging 0.99
R3907:Hars UTSW 18 36782716 missense probably benign 0.00
R5193:Hars UTSW 18 36767305 missense possibly damaging 0.94
R5688:Hars UTSW 18 36772316 missense probably damaging 1.00
R6331:Hars UTSW 18 36771332 missense probably benign 0.19
R6349:Hars UTSW 18 36783054 missense probably benign 0.00
R6416:Hars UTSW 18 36773590 missense possibly damaging 0.95
R7075:Hars UTSW 18 36772355 missense possibly damaging 0.87
R7209:Hars UTSW 18 36773540 missense probably benign 0.14
R7409:Hars UTSW 18 36770113 missense probably damaging 1.00
R7538:Hars UTSW 18 36771141 missense probably benign 0.00
R7621:Hars UTSW 18 36770423 missense probably benign
R7764:Hars UTSW 18 36770184 missense probably damaging 1.00
Posted On2011-12-09