|Institutional Source||Beutler Lab|
|Gene Name||aspartyl-tRNA synthetase|
|Is this an essential gene?||Probably essential (E-score: 0.955)|
|Stock #||R5294 (G1)|
|Chromosomal Location||128363707-128417368 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 128364302 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Isoleucine at position 480 (F480I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027602 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027601] [ENSMUST00000027602] [ENSMUST00000190495]|
AA Change: F480I
PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: F480I
|Meta Mutation Damage Score||0.1507|
|Coding Region Coverage||
|Validation Efficiency||97% (70/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a knock-out allele die between E11 and E14. Mice heterozygous for the allele exhibit decreased PPI. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dars||
(F):5'- AAAGGCTATGAATTTCAACCATAGAA -3'
(R):5'- GAACAGTTTCGGTTTCTGGAATAAGT -3'
(F):5'- CAGGTTCCTGGAGAGAAT -3'
(R):5'- CCTCCTAAATGCTGGGATTAAAGGC -3'