Sp2 - SNV Details



 Gene Information 
Gene Name Sp2
Old Gene Names for Sp2 4930480i16rik
Gene Description Sp2 transcription factor [Source:MGI Symbol;Acc:MGI:1926162]
MGI phenotype No homozygous null mice survived beyond E10.5, with decrease embryo size and embryonic growth retardation starting at E7.5.
Uniprot Name
CCDS Name
Gene GO
embryonic organ development; metal ion binding; DNA binding; nucleus; in utero embryonic development; multicellular organism growth; histone deacetylase binding; cardiovascular system development; fibroblast proliferation
Homolog in other species SP2
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGH IN MACROPHAGES, OSTEOCLASTS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000018678
Chromosome 11
Coordinate 96,954,561     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 39
Allele Frequency
C:R0.51
T:V0.49
Amino Acid Change R->H (Arginine -> Histidine)
Sample ID IGL00164
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved