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
CCDS 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
HIGH
Gnf Expression
HIGH(HIGHER IN FERTILIZED EGG AND OOCYTES)
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
T:R0.69
C:V0.31
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

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

 Availability Details 
Availability Cryopreserved