Incidental Mutation 'IGL01134:Cxxc4'
ID50778
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cxxc4
Ensembl Gene ENSMUSG00000044365
Gene NameCXXC finger 4
Synonyms9330210J02Rik, C030003J12Rik, Idax
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01134
Quality Score
Status
Chromosome3
Chromosomal Location134236484-134262161 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134240659 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 334 (I334V)
Ref Sequence ENSEMBL: ENSMUSP00000138000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166288] [ENSMUST00000181904]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122615
Predicted Effect probably null
Transcript: ENSMUST00000166288
AA Change: I166V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128574
Gene: ENSMUSG00000044365
AA Change: I166V

DomainStartEndE-ValueType
low complexity region 87 102 N/A INTRINSIC
low complexity region 116 129 N/A INTRINSIC
Pfam:zf-CXXC 131 172 5.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181597
Predicted Effect probably null
Transcript: ENSMUST00000181904
AA Change: I334V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138000
Gene: ENSMUSG00000044365
AA Change: I334V

DomainStartEndE-ValueType
low complexity region 94 101 N/A INTRINSIC
low complexity region 105 165 N/A INTRINSIC
low complexity region 255 270 N/A INTRINSIC
low complexity region 284 297 N/A INTRINSIC
Pfam:zf-CXXC 299 340 5.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199134
Coding Region Coverage
Validation Efficiency
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
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Acaca T G 11: 84,251,279 H637Q probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Akap6 C A 12: 52,937,217 A848E probably damaging Het
Cyp2b13 T A 7: 26,081,700 I179N probably damaging Het
Cyp2d40 C A 15: 82,760,901 A183S unknown Het
Cyp2g1 A G 7: 26,809,831 N110S probably benign Het
F5 A T 1: 164,191,979 R674S possibly damaging Het
Fnip2 G T 3: 79,512,503 Y155* probably null Het
Fut9 G T 4: 25,620,446 Q123K probably benign Het
Gda A G 19: 21,417,065 S143P probably damaging Het
Gpr162 T C 6: 124,858,857 probably null Het
Hsf2bp A G 17: 31,987,404 L251S probably damaging Het
Hsh2d A T 8: 72,193,531 D24V probably damaging Het
Htr1f T A 16: 64,926,138 T264S probably benign Het
Med12l G A 3: 59,042,275 E151K possibly damaging Het
Mgat3 C A 15: 80,212,176 N401K probably benign Het
Mmp27 T G 9: 7,573,297 M130R probably benign Het
Mroh2b T A 15: 4,915,152 S412T probably benign Het
Mrps9 A G 1: 42,903,397 I338M probably damaging Het
Mtmr4 C T 11: 87,604,067 T395M probably damaging Het
Nlrp9b A G 7: 20,023,187 I116M probably benign Het
Nqo1 T C 8: 107,388,955 D230G probably benign Het
Pcnx2 C T 8: 125,863,150 V795I probably benign Het
Pde8a G A 7: 81,319,078 R449Q possibly damaging Het
Scn9a A G 2: 66,504,968 Y1226H probably damaging Het
Sema3e A G 5: 14,252,770 R770G probably damaging Het
Smr2 T C 5: 88,108,519 S19P probably damaging Het
Trank1 T C 9: 111,391,781 S2529P probably benign Het
Uspl1 T A 5: 149,204,293 F367L probably damaging Het
Vps41 A G 13: 18,866,150 S838G probably benign Het
Ythdf2 A T 4: 132,205,478 F124I probably damaging Het
Other mutations in Cxxc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1839:Cxxc4 UTSW 3 134240653 missense probably damaging 1.00
R6265:Cxxc4 UTSW 3 134258063 missense probably benign 0.02
R6744:Cxxc4 UTSW 3 134240130 small insertion probably benign
R6947:Cxxc4 UTSW 3 134240516 missense possibly damaging 0.90
R7764:Cxxc4 UTSW 3 134240095 missense unknown
R7842:Cxxc4 UTSW 3 134240332 missense possibly damaging 0.93
R7860:Cxxc4 UTSW 3 134258053 missense probably benign 0.21
Z1177:Cxxc4 UTSW 3 134240050 missense unknown
Posted On2013-06-21