Setd7 - SNV Details



 Gene Information 
Gene Name Setd7
Old Gene Names for Setd7 1600028f23rik , Set7
Gene Description SET domain containing (lysine methyltransferase) 7 [Source:MGI Symbol;Acc:MGI:1920501]
MGI phenotype Mice homozygous for an allele lacking exon 2 exhibit some prenatal lethality and mouse embryonic fibroblasts exhibit cell cycling defects.
Uniprot Name
CCDS Name
Gene GO
regulation of transcription
DNA-templated; peptidyl-lysine dimethylation; histone-lysine N-methyltransferase activity; protein-lysine N-methyltransferase activity; protein binding; nucleus; p53 binding; histone lysine methylation; peptidyl-lysine monomethylation; chromosome; transcription
DNA-templated
Homolog in other species SETD7
Omim http://omim.org/entry/606594
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN
HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, LIVER, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037111
Chromosome 3
Coordinate 51,550,308     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 15
Allele Frequency
T:R0.60
A:V0.40
Amino Acid Change T->S (Threonine -> Serine)
Sample ID IGL00465
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved