|Institutional Source||Beutler Lab|
|Gene Name||leucyl-tRNA synthetase|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5433 (G1)|
|Chromosomal Location||42202350-42262122 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 42251298 bp|
|Amino Acid Change||Cysteine to Arginine at position 72 (C72R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000095197 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000097590]|
|Predicted Effect||noncoding transcript
|Predicted Effect||possibly damaging
AA Change: C72R
PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: C72R
|Meta Mutation Damage Score||0.9572|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in affected individuals with infantile liver failure syndrome 1. Alternatively spliced transcript variants of this gene have been observed. [provided by RefSeq, Dec 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lars||
(F):5'- CGTCACTGAACAACTCTAGTGC -3'
(R):5'- AGTACTTGTATAGCCAAGCCTCC -3'
(F):5'- TTTTGAACAAGCACACGTCTAGAC -3'
(R):5'- GTATAGCCAAGCCTCCTCTCCAC -3'