|Institutional Source||Beutler Lab|
|Gene Name||CCCTC-binding factor|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7725 (G1)|
|Chromosomal Location||105636568-105682922 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 105663836 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 25 (Y25C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005841 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005841]|
|Predicted Effect||probably damaging
AA Change: Y25C
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: Y25C
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a null allele die prior at implantation. 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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ctcf||
(F):5'- GCCTAATTCATTCACTAAGGTGGG -3'
(R):5'- ATCTGGGTATCGTCCACTGC -3'
(F):5'- AGAAATCTGCCTGCCTGTG -3'
(R):5'- TTCCGGAGCCACTGTACC -3'