|Institutional Source||Beutler Lab|
|Gene Name||histidyl-tRNA synthetase|
|Is this an essential gene?||Probably essential (E-score: 0.950)|
|Stock #||R7209 (G1)|
|Chromosomal Location||36766530-36783205 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 36773540 bp|
|Amino Acid Change||Serine to Proline at position 126 (S126P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001416 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001416]|
|Predicted Effect||probably benign
AA Change: S126P
PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
AA Change: S126P
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
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||
|Other mutations in Hars||
(F):5'- TACCCAAAGTCCTTTATCTTGCT -3'
(R):5'- TAGTCACGTTGGAGTAGTAAGTTTT -3'
(F):5'- GTCCTTTATCTTGCTTTAGAGGAAAC -3'
(R):5'- CTTAGTGATAGAGGAATTGCCCACC -3'