Hdac7 - SNV Details



 Gene Information 
Gene Name Hdac7
Gene Description histone deacetylase 7 [Source:MGI Symbol;Acc:MGI:1891835]
MGI phenotype Deletion of this gene result in embryonic lethality by E11, due to vascular defects which are due to endothelial cell adhesion defects.
Uniprot Name
CCDS Name
Gene GO
histone deacetylase complex; B cell activation; negative regulation of striated muscle tissue development; negative regulation of transcription
DNA-dependent; NAD-dependent histone deacetylase activity (H4-K16 specific); cell-cell junction assembly; histone deacetylase activity; NAD-dependent histone deacetylase activity (H3-K14 specific); chromatin binding; transcription
DNA-dependent; nervous system development; cytoplasm; metal ion binding; B cell differentiation; vasculogenesis; 14-3-3 protein binding; transcription corepressor activity; histone deacetylation; protein binding; inflammatory response; nucleus; chromatin modification; NAD-dependent histone deacetylase activity (H3-K9 specific); negative regulation of interleukin-2 production; negative regulation of osteoblast differentiation; negative regulation of transcription from RNA polymerase II promoter; activating transcription factor binding; transcription factor binding; protein kinase binding; repressing transcription factor binding; protein kinase C binding; NAD-dependent histone deacetylase activity (H3-K18 specific); positive regulation of cell migration involved in sprouting angiogenesis
Homolog in other species HDAC7
Omim http://omim.org/entry/606542
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, TGD GROUP, ABT GROUP, TACTIVATION GROUP, NK GROUP, DC.PDC.8-.SP, DC.PDC.8+.SP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022475
Chromosome 15
Coordinate 97,811,442     (Assembly: GRCm38)    
Ref Base A
Codon Change aTg/aGg
Var Base C
Zygosity Heterozygous
Read Depth 61
Allele Frequency
A:R0.52
C:V0.48
Amino Acid Position 69
Amino Acid Change M->R (Methionine -> Arginine)
Sample ID IGL01361
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 
Polyphen Score 0.84
Polyphen Prediction Possibly damaging
Sift Score 0.98
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000078766:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Histone deacetylase class II, eukaryotic Histone_deAcase_II_euk IPR017320 ENSMUSP00000078766 PIRSF 1
942 Description available Search pathways

 Availability Details 
Availability Cryopreserved