Incidental Mutation 'IGL01993:Hars'
ID182073
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: 0.966) question?
Stock #IGL01993
Quality Score
Status
Chromosome18
Chromosomal Location36766530-36783205 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 36770212 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 355 (G355D)
Ref Sequence ENSEMBL: ENSMUSP00000001416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001416] [ENSMUST00000061522]
Predicted Effect probably damaging
Transcript: ENSMUST00000001416
AA Change: G355D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380
AA Change: G355D

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: 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,258,452 probably benign Het
Acnat2 A T 4: 49,380,131 S398T probably benign Het
Adgrb2 G T 4: 130,018,842 E1296D possibly damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Anapc2 C A 2: 25,274,713 D322E probably benign Het
Apobec1 A G 6: 122,588,179 probably benign Het
Asic1 T C 15: 99,697,472 V393A probably benign Het
Cfap65 A C 1: 74,920,543 F816C probably damaging Het
Cfap69 A C 5: 5,581,284 L914R probably damaging Het
Cspg4 C T 9: 56,898,478 T2191I probably benign Het
Cyp11a1 T A 9: 58,020,823 I210N probably damaging Het
Dgkb T A 12: 37,982,010 Y24N probably benign Het
Epc1 T C 18: 6,449,136 T504A possibly damaging Het
Fam135a A T 1: 24,055,911 D125E probably damaging Het
Fam192a G T 8: 94,575,752 A217D possibly damaging Het
Fgd3 T C 13: 49,280,188 H345R possibly damaging Het
Gm11492 G T 11: 87,567,729 G310W possibly damaging Het
Gm12253 T C 11: 58,434,553 V17A probably damaging Het
Hpgd A T 8: 56,319,062 I190F probably benign Het
Ighv1-34 A T 12: 114,851,383 M53K probably benign Het
Ildr2 A T 1: 166,269,370 T53S possibly damaging Het
Ints5 T A 19: 8,895,465 C263S probably benign Het
Lars2 T C 9: 123,394,943 probably benign Het
Ldha G A 7: 46,855,100 A349T possibly damaging Het
Map3k2 T A 18: 32,226,631 C512* probably null Het
Mb21d1 A G 9: 78,442,520 S187P probably benign Het
Parp4 G A 14: 56,610,788 R687Q possibly damaging Het
Plk2 T C 13: 110,399,197 S518P probably damaging Het
Prrc2b T G 2: 32,224,045 V2036G possibly damaging Het
Psg16 T A 7: 17,093,706 S196T probably benign Het
Ranbp17 T C 11: 33,500,770 T56A possibly damaging Het
Retsat T C 6: 72,604,995 probably benign Het
Robo3 G T 9: 37,424,653 L484I probably damaging Het
Slc17a6 T C 7: 51,667,957 M446T possibly damaging Het
Slc38a1 G A 15: 96,624,046 T11M probably damaging Het
Tmem138 T C 19: 10,571,588 N106S probably benign Het
Traf1 G A 2: 34,946,867 probably benign Het
Tspan8 T C 10: 115,840,008 probably benign Het
Ubr5 T C 15: 37,973,012 E2615G probably damaging Het
Vwde A G 6: 13,219,978 I58T possibly damaging Het
Zc3h12c A G 9: 52,116,311 S603P probably damaging Het
Zfp746 A T 6: 48,082,158 S172R probably damaging Het
Other mutations in Hars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Hars APN 18 36768172 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 On2014-05-07