Incidental Mutation 'IGL01134:Cxxc4'
ID 50778
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cxxc4
Ensembl Gene ENSMUSG00000044365
Gene Name CXXC finger 4
Synonyms 9330210J02Rik, Idax, C030003J12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01134
Quality Score
Status
Chromosome 3
Chromosomal Location 133942245-133967922 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133946420 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q6NXI8
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: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca T G 11: 84,142,105 (GRCm39) H637Q probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Akap6 C A 12: 52,984,000 (GRCm39) A848E probably damaging Het
Cyp2b13 T A 7: 25,781,125 (GRCm39) I179N probably damaging Het
Cyp2d40 C A 15: 82,645,102 (GRCm39) A183S unknown Het
Cyp2g1 A G 7: 26,509,256 (GRCm39) N110S probably benign Het
F5 A T 1: 164,019,548 (GRCm39) R674S possibly damaging Het
Fnip2 G T 3: 79,419,810 (GRCm39) Y155* probably null Het
Fut9 G T 4: 25,620,446 (GRCm39) Q123K probably benign Het
Gda A G 19: 21,394,429 (GRCm39) S143P probably damaging Het
Gpr162 T C 6: 124,835,820 (GRCm39) probably null Het
Hsf2bp A G 17: 32,206,378 (GRCm39) L251S probably damaging Het
Hsh2d A T 8: 72,947,375 (GRCm39) D24V probably damaging Het
Htr1f T A 16: 64,746,501 (GRCm39) T264S probably benign Het
Med12l G A 3: 58,949,696 (GRCm39) E151K possibly damaging Het
Mgat3 C A 15: 80,096,377 (GRCm39) N401K probably benign Het
Mmp27 T G 9: 7,573,298 (GRCm39) M130R probably benign Het
Mroh2b T A 15: 4,944,634 (GRCm39) S412T probably benign Het
Mrps9 A G 1: 42,942,557 (GRCm39) I338M probably damaging Het
Mtmr4 C T 11: 87,494,893 (GRCm39) T395M probably damaging Het
Nlrp9b A G 7: 19,757,112 (GRCm39) I116M probably benign Het
Nqo1 T C 8: 108,115,587 (GRCm39) D230G probably benign Het
Pcnx2 C T 8: 126,589,889 (GRCm39) V795I probably benign Het
Pde8a G A 7: 80,968,826 (GRCm39) R449Q possibly damaging Het
Scn9a A G 2: 66,335,312 (GRCm39) Y1226H probably damaging Het
Sema3e A G 5: 14,302,784 (GRCm39) R770G probably damaging Het
Smr2 T C 5: 88,256,378 (GRCm39) S19P probably damaging Het
Trank1 T C 9: 111,220,849 (GRCm39) S2529P probably benign Het
Uspl1 T A 5: 149,141,103 (GRCm39) F367L probably damaging Het
Vps41 A G 13: 19,050,320 (GRCm39) S838G probably benign Het
Ythdf2 A T 4: 131,932,789 (GRCm39) F124I probably damaging Het
Other mutations in Cxxc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1839:Cxxc4 UTSW 3 133,946,414 (GRCm39) missense probably damaging 1.00
R6265:Cxxc4 UTSW 3 133,963,824 (GRCm39) missense probably benign 0.02
R6744:Cxxc4 UTSW 3 133,945,891 (GRCm39) small insertion probably benign
R6947:Cxxc4 UTSW 3 133,946,277 (GRCm39) missense possibly damaging 0.90
R7764:Cxxc4 UTSW 3 133,945,856 (GRCm39) missense unknown
R7842:Cxxc4 UTSW 3 133,946,093 (GRCm39) missense possibly damaging 0.93
R7860:Cxxc4 UTSW 3 133,963,814 (GRCm39) missense probably benign 0.21
R8845:Cxxc4 UTSW 3 133,945,912 (GRCm39) small insertion probably benign
R9003:Cxxc4 UTSW 3 133,945,431 (GRCm39) missense unknown
R9353:Cxxc4 UTSW 3 133,945,913 (GRCm39) missense unknown
Z1177:Cxxc4 UTSW 3 133,945,811 (GRCm39) missense unknown
Posted On 2013-06-21