D8Ertd82e - SNV Details



 Gene Information 
Gene Name D8ertd82e
Gene Description DNA segment, Chr 8, ERATO Doi 82, expressed [Source:MGI Symbol;Acc:MGI:1196223]
Uniprot Name
CCDS Name
Gene GO
protein kinase activity; transferase activity
transferring phosphorus-containing groups; cellular_component; protein phosphorylation; protein tyrosine kinase activity; ATP binding; molecular_function
Homolog in other species SGK223
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP, NK GROUP,MO.6C+II-.LN, B.FO.SP, B.MZ.SP, B1A.PC)
Gnf Expression
MEDIAN(HIGH IN MACROPHAGES, OSTEOCLASTS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000050271
Chromosome 8
Coordinate 36,103,046     (Assembly: GRCm38)    
Ref Base G
Codon Change cGt/cAt
Var Base A
Zygosity Heterozygous
Read Depth 35
Allele Frequency
G:R0.43
A:V0.57
Amino Acid Position 261
Amino Acid Change R->H (Arginine -> Histidine)
Sample ID IGL01343
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 57 Other Mutations

 Predictions 
Polyphen Score 0.94
Polyphen Prediction Possibly damaging
Sift Score 0.04
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved