Yars2 - SNV Details



 Human Rare Diseases 
Mitochondrial myopathy and sideroblastic anemia

 Gene Information 
Gene Name Yars2
Old Gene Names for Yars2 Aw259696 , 2210023c10rik
Gene Description tyrosyl-tRNA synthetase 2 (mitochondrial) [Source:MGI Symbol;Acc:MGI:1917370]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; tRNA aminoacylation; RNA binding; cytoplasm; tyrosine binding; protein homodimerization activity; aminoacyl-tRNA ligase activity; tRNA aminoacylation for protein translation; tyrosine-tRNA ligase activity; nucleotide binding; ATP binding; mitochondrial matrix; tyrosyl-tRNA aminoacylation
Homolog in other species YARS2
Omim http://omim.org/entry/610957
Immgen Expression
MEDIAN(LOW IN GN.BM, HIGH IN B.GC.SP, PROB.FRBC.FL)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022792
Chromosome 16
Coordinate 16,306,542     (Assembly: GRCm38)    
Ref Base C
Codon Change Cga/Tga
Var Base T
Zygosity Heterozygous
Read Depth 53
Allele Frequency
C:R0.55
T:V0.45
Amino Acid Position 338
Amino Acid Change R->Stop (Arginine -> Stop)
Sample ID IGL01061
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Prediction N/A
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000055277:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Aminoacyl-tRNA synthetase, class Ic aa-tRNA-synth_Ic IPR002305 ENSMUSP00000055277 Pfam 68
369 Description available Search pathways
Tyrosine-tRNA ligase Tyr-tRNA-ligase IPR002307 ENSMUSP00000055277 TIGRfam 66
469 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved