|Institutional Source||Beutler Lab|
|Gene Name||CXXC finger 4|
|Synonyms||9330210J02Rik, C030003J12Rik, Idax|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7764 (G1)|
|Chromosomal Location||134236484-134262161 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 134240095 bp|
|Amino Acid Change||Glycine to Cysteine at position 146 (G146C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000138000 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000166288] [ENSMUST00000181904]|
|Predicted Effect||probably benign
AA Change: G146C
AA Change: G146C
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a CXXC-type zinc finger domain-containing protein that functions as an antagonist of the canonical wingless/integrated signaling pathway. The encoded protein negatively regulates wingless/integrated signaling through interaction with the post synaptic density protein/ Drosophila disc large tumor suppressor/ zonula occludens-1 protein domain of Dishevelled, a scaffolding protein required for the stabilization of the transcriptional co-activator beta-catenin. In addition, the CXXC domain of this protein has been shown to bind unmethylated CpG dinucleotides, localize to promoters and CpG islands, and interact with the catalytic domain of methylcytosine dioxygenase ten-eleven-translocation 2, an iron and alpha-ketoglutarate-dependent dioxygenase that modifies the methylation status of DNA. In humans, a mutation in this gene has been associated with development of malignant renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cxxc4||
(F):5'- CTTCTACAAGACCAACGGGG -3'
(R):5'- CAAAGGTCTGCAGTGTTCGG -3'
(F):5'- CATGTCCCCGTGGAACTG -3'
(R):5'- CTGCAGTGTTCGGGGGATAAG -3'