Setdb1 - SNV Details



 Gene Information 
Gene Name Setdb1
Old Gene Names for Setdb1 Au022152
Gene Description SET domain, bifurcated 1 [Source:MGI Symbol;Acc:MGI:1934229]
MGI phenotype Homozygous inactivation of this locus results in peri-implantation lethality. Inner cell mass growth is impaired in null blastocysts.
Uniprot Name
CCDS Name
Gene GO
inner cell mass cell proliferation; cytoplasm; zinc ion binding; histone-lysine N-methyltransferase activity; DNA binding; protein binding; nucleus; histone lysine methylation; plasma membrane; chromosome; Golgi apparatus
Homolog in other species SETDB1
Omim http://omim.org/entry/604396
Immgen Expression
HIGH(LOWER IN GN.BM)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000015697
Chromosome 3
Coordinate 95,338,580     (Assembly: GRCm38)    
Ref Base A
Codon Change tTg/tAg
Var Base T
Zygosity Heterozygous
Read Depth 44
Allele Frequency
A:R0.39
T:V0.61
Amino Acid Position 677
Amino Acid Change L->Stop (Leucine -> Stop)
Sample ID IGL01339
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 61 Other Mutations

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

 Protein domains 
ENSMUSP00000102789:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Methyl-CpG DNA binding Methyl_CpG_DNA-bd IPR001739 ENSMUSP00000102789 Prosite_profiles 611
682 Description available Search pathways
Methyl-CpG DNA binding Methyl_CpG_DNA-bd IPR001739 ENSMUSP00000102789 Pfam 612
681 Description available Search pathways
Methyl-CpG DNA binding Methyl_CpG_DNA-bd IPR001739 ENSMUSP00000102789 Smart 614
689 Description available Search pathways
DNA-binding domain DNA-bd_integrase-typ IPR016177 ENSMUSP00000102789 Superfamily 611
688 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved