Incidental Mutation 'R9353:Cxxc4'
ID 708205
Institutional Source Beutler Lab
Gene Symbol Cxxc4
Ensembl Gene ENSMUSG00000044365
Gene Name CXXC finger 4
Synonyms 9330210J02Rik, Idax, C030003J12Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9353 (G1)
Quality Score 168.009
Status Not validated
Chromosome 3
Chromosomal Location 133942245-133967922 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 133945913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 165 (G165C)
Ref Sequence ENSEMBL: ENSMUSP00000138000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166288] [ENSMUST00000181904]
AlphaFold Q6NXI8
Predicted Effect probably benign
Transcript: ENSMUST00000166288
SMART Domains Protein: ENSMUSP00000128574
Gene: ENSMUSG00000044365

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 unknown
Transcript: ENSMUST00000181904
AA Change: G165C
SMART Domains Protein: ENSMUSP00000138000
Gene: ENSMUSG00000044365
AA Change: G165C

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (44/45)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b A T 8: 22,517,890 (GRCm39) V316D possibly damaging Het
Bhmt1b A G 18: 87,774,954 (GRCm39) E159G probably damaging Het
Cc2d2a T C 5: 43,860,691 (GRCm39) probably null Het
Ccdc88a A G 11: 29,427,433 (GRCm39) D1046G probably damaging Het
Ccl12 A T 11: 81,993,437 (GRCm39) D25V possibly damaging Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Ces3a G T 8: 105,776,547 (GRCm39) R45L probably benign Het
Cntln G T 4: 84,802,597 (GRCm39) probably benign Het
Crybg3 C A 16: 59,421,107 (GRCm39) probably null Het
Dab2ip G A 2: 35,598,851 (GRCm39) C181Y probably damaging Het
Dnah11 A G 12: 118,143,434 (GRCm39) V403A probably benign Het
Dnah12 T C 14: 26,578,507 (GRCm39) S3089P probably damaging Het
Dnajc13 A T 9: 104,067,571 (GRCm39) I1196N probably benign Het
Faiml T C 9: 99,116,462 (GRCm39) Y76C probably damaging Het
Fam171b T A 2: 83,707,028 (GRCm39) H299Q probably benign Het
Fbxo36 A G 1: 84,874,259 (GRCm39) N85S probably benign Het
Filip1 A G 9: 79,725,623 (GRCm39) F999L possibly damaging Het
Gtf3c3 A T 1: 54,445,211 (GRCm39) S614R possibly damaging Het
Il18rap A G 1: 40,587,088 (GRCm39) T457A probably benign Het
Inmt C T 6: 55,151,984 (GRCm39) probably benign Het
Kcnb1 C T 2: 166,947,007 (GRCm39) G614S probably benign Het
Kdm2a C T 19: 4,393,141 (GRCm39) D405N Het
Kdm5a T A 6: 120,404,730 (GRCm39) V1324E probably benign Het
Lyn A T 4: 3,746,804 (GRCm39) Y194F possibly damaging Het
Mdn1 A G 4: 32,693,504 (GRCm39) D1043G probably damaging Het
Mier1 T A 4: 103,012,800 (GRCm39) H397Q probably damaging Het
Mov10l1 T A 15: 88,872,622 (GRCm39) D105E possibly damaging Het
Muc21 T C 17: 35,930,545 (GRCm39) T1214A unknown Het
Nav3 A G 10: 109,554,065 (GRCm39) S1766P probably damaging Het
Ncdn T A 4: 126,644,464 (GRCm39) E119D probably benign Het
Nckipsd C A 9: 108,691,471 (GRCm39) A416E probably damaging Het
Nek5 A G 8: 22,563,961 (GRCm39) V623A probably benign Het
Oas1g A G 5: 121,023,986 (GRCm39) Y108H possibly damaging Het
Or13n4 T C 7: 106,423,062 (GRCm39) T224A probably benign Het
P2ry1 T C 3: 60,911,916 (GRCm39) S352P probably damaging Het
Pde6a T C 18: 61,390,382 (GRCm39) F535S probably damaging Het
Pitpnb T C 5: 111,530,891 (GRCm39) L228P probably damaging Het
Rbck1 G T 2: 152,161,145 (GRCm39) H368N probably damaging Het
Snrnp35 T A 5: 124,628,559 (GRCm39) V124E probably damaging Het
Spdye4a C T 5: 143,204,793 (GRCm39) M224I probably benign Het
Stau1 A G 2: 166,792,267 (GRCm39) Y424H probably damaging Het
Sult1c2 A T 17: 54,271,060 (GRCm39) D190E probably benign Het
Thbs1 A G 2: 117,953,051 (GRCm39) D887G probably damaging Het
Tiam2 C T 17: 3,558,074 (GRCm39) Q1233* probably null Het
Tmem88 A G 11: 69,288,939 (GRCm39) V38A probably damaging Het
Vmn1r219 G A 13: 23,346,902 (GRCm39) M30I probably benign Het
Zswim3 A G 2: 164,662,261 (GRCm39) H247R probably damaging 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
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
Z1177:Cxxc4 UTSW 3 133,945,811 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTCCTTCTACAAGACCAACGGG -3'
(R):5'- CGCTCGGGGAGATTCATTATC -3'

Sequencing Primer
(F):5'- ATGTCCCCGTGGAACTGC -3'
(R):5'- CCAAAGGTCTGCAGTGTT -3'
Posted On 2022-04-18