|Institutional Source||Beutler Lab|
|Gene Name||CXXC finger 1 (PHD domain)|
|Synonyms||2410002I16Rik, 5830420C16Rik, PHF18, Cgbp, Cfp1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||P0018 (G1)|
|Chromosomal Location||74216131-74221491 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 74220921 bp|
|Amino Acid Change||Arginine to Cysteine at position 593 (R593C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025444 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025444]|
|Predicted Effect||probably damaging
AA Change: R593C
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: R593C
|Meta Mutation Damage Score||0.6546|
|Coding Region Coverage||
|Validation Efficiency||72% (76/106)|
|MGI Phenotype||Strain: 2654854
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as a transcriptional activator that binds specifically to non-methylated CpG motifs through its CXXC domain. The protein is a component of the SETD1 complex, regulates gene expression and is essential for vertebrate development. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit peri-implantation lethality and failure to gastrulate. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cxxc1||
|Protein Function and Prediction|
Cxxc1 encodes CpG binding protein (CGBP), a transcriptional activator that binds to DNA that contains unmethylated CpG motifs (1;2). CGBP is necessary for mammalian embryogenesis, cytosine methylation, and cellular proliferation, and cellular differentiation (3;4).
involves: 129S/SvEv * C57BL/6
Mice homozygous for a targeted null mutation exhibit embryonic lethality and developmental patterning defects prior to E6.5 (1).
1. Carlone, D. L., and Skalnik, D. G. (2001) CpG Binding Protein is Crucial for Early Embryonic Development. Mol Cell Biol. 21, 7601-7606.
2. Voo, K. S., Carlone, D. L., Jacobsen, B. M., Flodin, A., and Skalnik, D. G. (2000) Cloning of a Mammalian Transcriptional Activator that Binds Unmethylated CpG Motifs and Shares a CXXC Domain with DNA Methyltransferase, Human Trithorax, and Methyl-CpG Binding Domain Protein 1. Mol Cell Biol. 20, 2108-2121.
3. Lee, J. H., Voo, K. S., and Skalnik, D. G. (2001) Identification and Characterization of the DNA Binding Domain of CpG-Binding Protein. J Biol Chem. 276, 44669-44676.
4. Young, S. R., and Skalnik, D. G. (2007) CXXC Finger Protein 1 is Required for Normal Proliferation and Differentiation of the PLB-985 Myeloid Cell Line. DNA Cell Biol. 26, 80-90.
|Science Writer||Anne Murray|