Incidental Mutation 'R6947:Cxxc4'
ID 540917
Institutional Source Beutler Lab
Gene Symbol Cxxc4
Ensembl Gene ENSMUSG00000044365
Gene Name CXXC finger 4
Synonyms 9330210J02Rik, Idax, C030003J12Rik
MMRRC Submission 045060-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6947 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 133942245-133967922 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 133946277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 286 (S286F)
Ref Sequence ENSEMBL: ENSMUSP00000138000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166288] [ENSMUST00000181904]
AlphaFold Q6NXI8
Predicted Effect probably benign
Transcript: ENSMUST00000166288
AA Change: S118F

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000128574
Gene: ENSMUSG00000044365
AA Change: S118F

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 possibly damaging
Transcript: ENSMUST00000181904
AA Change: S286F

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138000
Gene: ENSMUSG00000044365
AA Change: S286F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.0%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 C A 9: 90,073,857 (GRCm39) probably null Het
Adcy4 T C 14: 56,015,848 (GRCm39) T414A possibly damaging Het
Bop1 A G 15: 76,338,188 (GRCm39) F561L probably damaging Het
Ccdc18 T C 5: 108,309,401 (GRCm39) V332A probably benign Het
Cep290 A G 10: 100,365,918 (GRCm39) T1042A probably damaging Het
Cnot8 G T 11: 58,008,331 (GRCm39) V266L probably benign Het
Cyp2d12 A T 15: 82,443,248 (GRCm39) I386L probably benign Het
Dgka A T 10: 128,568,884 (GRCm39) I227N probably damaging Het
Eif2d T C 1: 131,092,404 (GRCm39) V354A probably benign Het
Fgr T A 4: 132,722,380 (GRCm39) probably null Het
Idnk A G 13: 58,308,055 (GRCm39) probably null Het
Kmt2e T C 5: 23,702,543 (GRCm39) S952P probably damaging Het
Kng1 A G 16: 22,896,124 (GRCm39) H343R probably benign Het
Lgals8 G A 13: 12,469,682 (GRCm39) probably benign Het
Lrit3 T A 3: 129,582,883 (GRCm39) Q368L probably benign Het
Lypd8 A T 11: 58,273,592 (GRCm39) T24S probably benign Het
Map3k4 G A 17: 12,479,456 (GRCm39) Q704* probably null Het
Mcm3ap A G 10: 76,351,500 (GRCm39) I1948V probably benign Het
Mettl25 A G 10: 105,662,053 (GRCm39) F306L probably benign Het
Mos A C 4: 3,871,585 (GRCm39) V77G probably damaging Het
Muc4 C T 16: 32,596,177 (GRCm39) R3130C possibly damaging Het
Naxd T C 8: 11,552,757 (GRCm39) V59A probably damaging Het
Nup107 A G 10: 117,593,179 (GRCm39) V833A probably benign Het
Or1p4-ps1 C T 11: 74,208,370 (GRCm39) S173L unknown Het
Or5m10b T C 2: 85,699,271 (GRCm39) F112L probably benign Het
Pcnx2 C T 8: 126,577,021 (GRCm39) probably null Het
Pde10a T A 17: 9,188,424 (GRCm39) I908N probably damaging Het
Plcb1 A G 2: 135,228,075 (GRCm39) K1058R probably benign Het
Rad17 A T 13: 100,759,383 (GRCm39) F548Y probably damaging Het
Rad54b T G 4: 11,569,859 (GRCm39) S58R possibly damaging Het
Rbm20 G A 19: 53,839,696 (GRCm39) G895D probably damaging Het
Rgs22 T C 15: 36,104,036 (GRCm39) probably null Het
Rhobtb3 A G 13: 76,058,785 (GRCm39) S338P probably benign Het
Ruvbl2 A G 7: 45,074,373 (GRCm39) probably null Het
Slc16a12 A G 19: 34,650,007 (GRCm39) F343L probably benign Het
Slc22a28 A G 19: 8,041,875 (GRCm39) L444P possibly damaging Het
Slc44a4 A T 17: 35,147,044 (GRCm39) Q358L probably null Het
Sowaha A G 11: 53,369,225 (GRCm39) F504L probably benign Het
Syne1 A G 10: 5,125,789 (GRCm39) L6035P probably damaging Het
Thbs2 A T 17: 14,910,029 (GRCm39) M190K possibly damaging Het
Tmem171 A G 13: 98,824,950 (GRCm39) F227L possibly damaging Het
Trp53 A G 11: 69,479,307 (GRCm39) K162E possibly damaging Het
Ttn T A 2: 76,724,732 (GRCm39) K2098* probably null Het
Usp30 T C 5: 114,241,821 (GRCm39) S88P probably benign Het
Zfp276 C A 8: 123,981,643 (GRCm39) D63E probably benign Het
Other mutations in Cxxc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Cxxc4 APN 3 133,946,420 (GRCm39) missense probably null 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TAATGAATCTCCCCGAGCGG -3'
(R):5'- AAATCATCTCCTCTGACCTCTAGCG -3'

Sequencing Primer
(F):5'- AGCGGGTGGGGACTTTTTCC -3'
(R):5'- TCTGACCTCTAGCGAAGTGC -3'
Posted On 2018-11-28