Ctcf - SNV Details

 Gene Information 
Gene Name Ctcf
Old Gene Names for Ctcf Aw108038
Gene Description CCCTC-binding factor [Source:MGI Symbol;Acc:MGI:109447]
MGI phenotype Mice homozygous for a null allele die prior to E9.5. Mice homozygous for a conditional allele activated in T cells exhibit a defect in the transition from immature single positive T cells to double positive T cells.
Uniprot Name
Gene GO
nucleoplasm; negative regulation of gene expression; maintenance of DNA methylation; sequence-specific DNA binding; negative regulation of transcription
DNA-dependent; regulation of histone methylation; transcription
DNA-dependent; chromosome
centromeric region; regulation of histone acetylation; condensed chromosome; intracellular; zinc ion binding; DNA binding; sequence-specific DNA binding transcription factor activity; DNA methylation; protein binding; regulation of gene expression by genetic imprinting; transcription regulatory region DNA binding; nucleus; positive regulation of transcription
DNA-dependent; chromatin modification; nucleosome positioning; dosage compensation by inactivation of X chromosome; regulation of transcription
DNA-dependent; regulation of gene expression
epigenetic; nucleolus; regulation of molecular function
epigenetic; chromosome segregation; positive regulation of gene expression; chromatin insulator sequence binding
Homolog in other species CTCF
Omim http://omim.org/entry/604167
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000005698
Chromosome 8
Coordinate 105,670,232     (Assembly: GRCm38)    
Ref Base T
Codon Change gTc/gCc
Var Base C
Zygosity Heterozygous
Read Depth 32
Allele Frequency
Amino Acid Position 363
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL01936
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 69 Other Mutations

Polyphen Score 0.04
Polyphen Prediction Benign
Sift Score 0.75
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved