Setdb2 - SNV Details



 Gene Information 
Gene Name Setdb2
Old Gene Names for Setdb2 Gm293
Gene Description SET domain, bifurcated 2 [Source:MGI Symbol;Acc:MGI:2685139]
Uniprot Name
CCDS Name
Gene GO
negative regulation of transcription
DNA-dependent; cell division; histone methyltransferase activity (H3-K9 specific); mitosis; zinc ion binding; histone-lysine N-methyltransferase activity; DNA binding; protein binding; left/right axis specification; histone H3-K9 methylation; nucleus; histone lysine methylation; chromosome segregation; chromosome; heart looping
Homolog in other species SETDB2
Omim http://omim.org/entry/607865
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000071350
Chromosome 14
Coordinate 59,402,315     (Assembly: GRCm38)    
Ref Base C
Codon Change cGg/cAg
Var Base T
Zygosity Heterozygous
Read Depth 48
Allele Frequency
C:R0.50
T:V0.50
Amino Acid Position 709
Amino Acid Change R->Q (Arginine -> Glutamine)
Sample ID IGL02141
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved