Incidental Mutation 'R7075:Hars1'
ID 549192
Institutional Source Beutler Lab
Gene Symbol Hars1
Ensembl Gene ENSMUSG00000001380
Gene Name histidyl-tRNA synthetase 1
Synonyms Hars, MMHRS
MMRRC Submission 045170-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R7075 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 36899581-36916258 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36905408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 142 (N142S)
Ref Sequence ENSEMBL: ENSMUSP00000001416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001416]
AlphaFold Q61035
Predicted Effect possibly damaging
Transcript: ENSMUST00000001416
AA Change: N142S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380
AA Change: N142S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (60/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp1 A T 12: 85,325,782 (GRCm39) H72Q unknown Het
Afmid T A 11: 117,726,531 (GRCm39) D218E probably benign Het
Ankhd1 T C 18: 36,693,042 (GRCm39) V1A Het
Atf7ip T C 6: 136,573,513 (GRCm39) probably null Het
BC024139 C T 15: 76,008,599 (GRCm39) V326I probably benign Het
Bfsp1 T A 2: 143,690,885 (GRCm39) Q159L probably damaging Het
Cct2 A T 10: 116,897,370 (GRCm39) W125R unknown Het
Cnksr3 G T 10: 7,102,931 (GRCm39) T147K probably benign Het
Colq C G 14: 31,274,866 (GRCm39) G101R probably damaging Het
Dlg5 G T 14: 24,227,865 (GRCm39) T352K possibly damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Ebna1bp2 T C 4: 118,479,299 (GRCm39) V119A probably benign Het
Eif2ak4 C T 2: 118,251,291 (GRCm39) Q318* probably null Het
Eif2b1 G A 5: 124,709,314 (GRCm39) T286M probably damaging Het
Fam53b G T 7: 132,361,352 (GRCm39) D225E probably damaging Het
Fh1 A G 1: 175,435,421 (GRCm39) I354T probably benign Het
Fnbp1 T C 2: 30,948,926 (GRCm39) H206R probably benign Het
Gabrg3 A T 7: 56,973,444 (GRCm39) D74E probably damaging Het
Galnt18 A T 7: 111,155,595 (GRCm39) V246E possibly damaging Het
Glt6d1 T C 2: 25,685,292 (GRCm39) R44G probably benign Het
Gm17087 T C 17: 8,785,635 (GRCm39) M23V probably benign Het
Gpr160 A T 3: 30,950,926 (GRCm39) I333L possibly damaging Het
Hmgcll1 T C 9: 75,963,834 (GRCm39) V97A possibly damaging Het
Itih4 T G 14: 30,614,560 (GRCm39) V474G probably damaging Het
Itprid2 T A 2: 79,466,004 (GRCm39) S41T probably damaging Het
Keap1 C T 9: 21,142,552 (GRCm39) V568I probably benign Het
Kifc5b A G 17: 27,144,872 (GRCm39) M633V probably benign Het
Lsm4 A G 8: 71,130,435 (GRCm39) E18G probably damaging Het
Meox1 T A 11: 101,784,569 (GRCm39) Q88L probably damaging Het
Mettl25 T C 10: 105,665,785 (GRCm39) N147S possibly damaging Het
Mphosph9 A C 5: 124,458,922 (GRCm39) W83G probably damaging Het
Or1j15 T C 2: 36,459,192 (GRCm39) I194T probably benign Het
Or5ak22 T C 2: 85,230,544 (GRCm39) D111G probably damaging Het
Or7e170 T A 9: 19,795,359 (GRCm39) M81L probably benign Het
Or8b4 T C 9: 37,830,370 (GRCm39) V139A probably benign Het
Or8h8 T G 2: 86,752,990 (GRCm39) K295N possibly damaging Het
Or9g4 T A 2: 85,505,168 (GRCm39) Y109F Het
Otogl G T 10: 107,614,790 (GRCm39) T1954K probably benign Het
Padi2 T C 4: 140,660,528 (GRCm39) V336A probably damaging Het
Phf21a C T 2: 92,190,724 (GRCm39) Q675* probably null Het
Ppip5k1 T C 2: 121,152,231 (GRCm39) E1092G probably damaging Het
Psg21 T C 7: 18,388,786 (GRCm39) N102S probably damaging Het
Ralgapa1 C A 12: 55,867,508 (GRCm39) Q15H possibly damaging Het
Rbm26 A T 14: 105,398,043 (GRCm39) D26E unknown Het
Rbp4 T C 19: 38,112,509 (GRCm39) Y152C probably damaging Het
Recql4 A G 15: 76,590,624 (GRCm39) V646A possibly damaging Het
Rnf220 A T 4: 117,143,079 (GRCm39) M63K probably benign Het
Selenok T C 14: 29,692,024 (GRCm39) S21P probably damaging Het
Senp1 A G 15: 97,956,207 (GRCm39) V404A probably benign Het
Sh3yl1 A G 12: 30,990,165 (GRCm39) probably null Het
Snx32 A G 19: 5,547,018 (GRCm39) L275P probably damaging Het
Stat5a T C 11: 100,770,519 (GRCm39) V519A possibly damaging Het
Tbc1d10b A T 7: 126,802,410 (GRCm39) V388E possibly damaging Het
Tdrd6 A G 17: 43,936,065 (GRCm39) V1661A probably benign Het
Tmem63a T A 1: 180,788,714 (GRCm39) F350L probably damaging Het
Trio A T 15: 27,898,086 (GRCm39) I401K unknown Het
Ttn T C 2: 76,547,173 (GRCm39) E32291G probably damaging Het
Tubgcp5 G T 7: 55,479,155 (GRCm39) V1002L probably benign Het
Vav3 C T 3: 109,433,240 (GRCm39) T410I possibly damaging Het
Vmn1r1 A T 1: 181,985,597 (GRCm39) F23I probably benign Het
Vmn2r84 T A 10: 130,226,941 (GRCm39) Q299L probably damaging Het
Vmn2r85 T A 10: 130,258,557 (GRCm39) E499D probably benign Het
Other mutations in Hars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Hars1 APN 18 36,901,225 (GRCm39) missense probably damaging 1.00
IGL01993:Hars1 APN 18 36,903,265 (GRCm39) missense probably damaging 1.00
IGL03079:Hars1 APN 18 36,903,556 (GRCm39) missense probably damaging 1.00
P0040:Hars1 UTSW 18 36,906,628 (GRCm39) missense probably damaging 0.99
R0542:Hars1 UTSW 18 36,904,234 (GRCm39) missense probably benign 0.23
R0630:Hars1 UTSW 18 36,904,442 (GRCm39) missense probably damaging 1.00
R1171:Hars1 UTSW 18 36,904,467 (GRCm39) missense possibly damaging 0.81
R1711:Hars1 UTSW 18 36,904,156 (GRCm39) missense probably damaging 1.00
R1744:Hars1 UTSW 18 36,903,885 (GRCm39) missense probably benign 0.00
R1873:Hars1 UTSW 18 36,900,294 (GRCm39) missense probably damaging 0.99
R3907:Hars1 UTSW 18 36,915,769 (GRCm39) missense probably benign 0.00
R5193:Hars1 UTSW 18 36,900,358 (GRCm39) missense possibly damaging 0.94
R5688:Hars1 UTSW 18 36,905,369 (GRCm39) missense probably damaging 1.00
R6331:Hars1 UTSW 18 36,904,385 (GRCm39) missense probably benign 0.19
R6349:Hars1 UTSW 18 36,916,107 (GRCm39) missense probably benign 0.00
R6416:Hars1 UTSW 18 36,906,643 (GRCm39) missense possibly damaging 0.95
R7209:Hars1 UTSW 18 36,906,593 (GRCm39) missense probably benign 0.14
R7409:Hars1 UTSW 18 36,903,166 (GRCm39) missense probably damaging 1.00
R7538:Hars1 UTSW 18 36,904,194 (GRCm39) missense probably benign 0.00
R7621:Hars1 UTSW 18 36,903,476 (GRCm39) missense probably benign
R7764:Hars1 UTSW 18 36,903,237 (GRCm39) missense probably damaging 1.00
R8401:Hars1 UTSW 18 36,904,243 (GRCm39) missense possibly damaging 0.74
R8828:Hars1 UTSW 18 36,899,996 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- ACCCATTAGGAGGTCTACATGC -3'
(R):5'- CTTCCTGACAATGAGACGCG -3'

Sequencing Primer
(F):5'- GAGCATTTTTGAGACCATCCAGTG -3'
(R):5'- ACAATGAGACGCGCTGTTTC -3'
Posted On 2019-05-15