Iars - SNV Details



 Gene Information 
Gene Name Iars
Old Gene Names for Iars Ai327140 , Au044614 , 2510016l12rik , E430001p04rik
Gene Description isoleucine-tRNA synthetase [Source:MGI Symbol;Acc:MGI:2145219]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; isoleucine-tRNA ligase activity; aminoacyl-tRNA ligase activity; protein binding; aminoacyl-tRNA editing activity; tRNA aminoacylation for protein translation; nucleus; isoleucyl-tRNA aminoacylation; nucleotide binding; ATP binding
Homolog in other species IARS
Omim http://omim.org/entry/600709
Immgen Expression
MEDIAN(LOW IN GN.BM, HIGH IN B.GC.SP, PROB.FRBC.FL)
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM.G1, IMM.G3, OSTEO GROUP, M1, EMBRYONIC.STEM TISSUES)
HIGH(HIGHER IN FERTILIZED EGG AND OOCYTES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037851
Chromosome 13
Coordinate 49,724,696     (Assembly: GRCm38)    
Ref Base A
Codon Change Atg/Gtg
Var Base G
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.68
G:V0.32
Amino Acid Position 899
Amino Acid Change M->V (Methionine -> Valine)
Sample ID IGL02121
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 66 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.11
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000132082:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Aminoacyl-tRNA synthetase, class 1a, anticodon-binding tRNAsynth_1a_anticodon-bd IPR009080 ENSMUSP00000132082 Superfamily 653
913 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved