|Institutional Source||Beutler Lab|
|Gene Name||alanyl-tRNA synthetase|
|Is this an essential gene?||Probably essential (E-score: 0.963)|
|Stock #||R7745 (G1)|
|Chromosomal Location||111033144-111057664 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 111041657 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 220 (I220N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034441 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034441] [ENSMUST00000125268]|
|Predicted Effect||probably damaging
AA Change: I220N
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: I220N
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||96% (55/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous point mutation (A734E) exhibit a rough sticky coat, follicular dystrophy, patchy hair loss, progressive ataxia, and Purkinje cell degeneration. Homozygotes for a targeted point mutation (C723A) die by mid-gestation, while heterozygotes show mild Purkinje cell loss. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aars||
(F):5'- ATGAAGCCAGAATCCTCCCTG -3'
(R):5'- ACGGTTCAGGAAGACATTCTG -3'
(F):5'- CAGAATCCTCCCTGGCAAC -3'
(R):5'- TTATATAGGTCCACCCCATCCCAGG -3'