Incidental Mutation 'R5890:Cxxc1'
ID 457132
Institutional Source Beutler Lab
Gene Symbol Cxxc1
Ensembl Gene ENSMUSG00000024560
Gene Name CXXC finger protein 1
Synonyms Cgbp, Cfp1, PHF18, 5830420C16Rik, 2410002I16Rik, CXXC finger 1 (PHD domain)
MMRRC Submission 044091-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5890 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 74349283-74354564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74354237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 648 (D648E)
Ref Sequence ENSEMBL: ENSMUSP00000025444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025444]
AlphaFold Q9CWW7
Predicted Effect possibly damaging
Transcript: ENSMUST00000025444
AA Change: D648E

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025444
Gene: ENSMUSG00000024560
AA Change: D648E

DomainStartEndE-ValueType
PHD 28 74 1.26e-10 SMART
Pfam:zf-CXXC 164 212 2.4e-19 PFAM
low complexity region 237 253 N/A INTRINSIC
low complexity region 272 282 N/A INTRINSIC
low complexity region 325 364 N/A INTRINSIC
Pfam:zf-CpG_bind_C 404 640 2.1e-108 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as a transcriptional activator that binds specifically to non-methylated CpG motifs through its CXXC domain. The protein is a component of the SETD1 complex, regulates gene expression and is essential for vertebrate development. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit peri-implantation lethality and failure to gastrulate. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)
 

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,550,554 (GRCm39) probably null Het
Acsm3 C A 7: 119,374,457 (GRCm39) T303N probably benign Het
Adamts13 A T 2: 26,876,603 (GRCm39) R506W probably damaging Het
Adck5 C T 15: 76,477,785 (GRCm39) T166M probably damaging Het
Adcy8 T A 15: 64,687,266 (GRCm39) I413F probably damaging Het
Adgrl2 A T 3: 148,564,811 (GRCm39) D252E probably damaging Het
Aldh16a1 T A 7: 44,793,969 (GRCm39) T636S probably benign Het
Ampd1 C A 3: 102,997,391 (GRCm39) F264L probably damaging Het
Arhgap17 T C 7: 122,885,981 (GRCm39) probably benign Het
Babam2 A G 5: 32,222,151 (GRCm39) probably benign Het
Bltp2 C T 11: 78,164,096 (GRCm39) Q40* probably null Het
Bod1l T A 5: 41,977,921 (GRCm39) E1131V probably benign Het
Cbs C T 17: 31,832,193 (GRCm39) V553M probably damaging Het
Cd72 T C 4: 43,454,475 (GRCm39) K18R probably damaging Het
Cep89 A G 7: 35,128,587 (GRCm39) Y580C probably damaging Het
Chrnb1 T A 11: 69,683,555 (GRCm39) I264F possibly damaging Het
Cntf A G 19: 12,741,357 (GRCm39) W168R probably damaging Het
Cyp2c68 A T 19: 39,700,936 (GRCm39) L294Q probably damaging Het
Dab2ip T C 2: 35,605,414 (GRCm39) S532P probably damaging Het
Defb3 G A 8: 19,345,200 (GRCm39) C52Y probably damaging Het
Dennd5a T G 7: 109,533,428 (GRCm39) E114A probably benign Het
Dnah12 T C 14: 26,428,039 (GRCm39) F222L probably benign Het
Dock9 A C 14: 121,905,820 (GRCm39) probably null Het
Fras1 A T 5: 96,793,807 (GRCm39) H1043L probably benign Het
Gamt C A 10: 80,095,741 (GRCm39) R63L possibly damaging Het
Gm1527 A G 3: 28,969,544 (GRCm39) H298R probably benign Het
Gphb5 C T 12: 75,462,596 (GRCm39) probably null Het
Greb1 A T 12: 16,783,422 (GRCm39) V104D possibly damaging Het
Hck A G 2: 152,970,996 (GRCm39) D86G probably damaging Het
Jhy T A 9: 40,833,958 (GRCm39) K321* probably null Het
Kcna5 C T 6: 126,511,699 (GRCm39) R143H probably damaging Het
Kif19a G T 11: 114,680,264 (GRCm39) W867L possibly damaging Het
Map3k4 G A 17: 12,490,303 (GRCm39) A376V probably damaging Het
Mars1 A T 10: 127,133,914 (GRCm39) M661K probably benign Het
Mecp2 C T X: 73,079,043 (GRCm39) V496M probably damaging Het
Mfsd2b A T 12: 4,917,651 (GRCm39) C132S probably damaging Het
Mfsd4a T C 1: 131,966,666 (GRCm39) Y356C probably damaging Het
Mif4gd G T 11: 115,500,188 (GRCm39) A89E probably benign Het
Mkln1 A T 6: 31,467,482 (GRCm39) E593D probably benign Het
Mlh1 G T 9: 111,057,563 (GRCm39) N749K possibly damaging Het
Mrgprb2 T A 7: 48,201,707 (GRCm39) *339C probably null Het
Nphp4 T C 4: 152,631,536 (GRCm39) V812A probably benign Het
Nrcam G T 12: 44,623,554 (GRCm39) V1048L probably benign Het
Obsl1 G A 1: 75,470,503 (GRCm39) A856V probably damaging Het
Osgepl1 T A 1: 53,357,326 (GRCm39) F163I probably damaging Het
Pcdha6 C A 18: 37,102,121 (GRCm39) T438K possibly damaging Het
Pcdhb20 A T 18: 37,638,286 (GRCm39) M271L probably benign Het
Phip T C 9: 82,789,005 (GRCm39) T770A probably benign Het
Ppm1d A G 11: 85,217,734 (GRCm39) T166A probably damaging Het
Ptprf A T 4: 118,081,932 (GRCm39) I1102K probably benign Het
Sbsn T C 7: 30,452,692 (GRCm39) V569A possibly damaging Het
Skida1 T A 2: 18,050,814 (GRCm39) probably benign Het
Smg1 T A 7: 117,789,809 (GRCm39) probably benign Het
Sorcs2 A G 5: 36,386,535 (GRCm39) Y168H probably damaging Het
Sufu A T 19: 46,443,172 (GRCm39) probably null Het
Tbc1d24 A T 17: 24,404,500 (GRCm39) W215R probably damaging Het
Tenm4 T C 7: 96,552,067 (GRCm39) L2502P probably damaging Het
Tgm4 A T 9: 122,890,703 (GRCm39) E10V probably damaging Het
Trip11 T C 12: 101,852,231 (GRCm39) E611G probably damaging Het
Ttn C A 2: 76,540,243 (GRCm39) A34248S possibly damaging Het
Ube3a T A 7: 58,921,776 (GRCm39) N49K probably damaging Het
Ube3c A G 5: 29,863,290 (GRCm39) D855G possibly damaging Het
Ugt8a A G 3: 125,669,202 (GRCm39) S301P probably benign Het
Wdfy4 T A 14: 32,824,534 (GRCm39) N1295I possibly damaging Het
Wdr47 G T 3: 108,517,328 (GRCm39) G43C probably damaging Het
Wdtc1 A C 4: 133,021,673 (GRCm39) L601W unknown Het
Zfp236 A G 18: 82,658,276 (GRCm39) F614S possibly damaging Het
Zfp637 T A 6: 117,822,047 (GRCm39) D58E possibly damaging Het
Other mutations in Cxxc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01477:Cxxc1 APN 18 74,352,985 (GRCm39) missense possibly damaging 0.83
IGL02250:Cxxc1 APN 18 74,352,240 (GRCm39) missense probably benign 0.00
IGL02640:Cxxc1 APN 18 74,354,254 (GRCm39) missense probably damaging 1.00
IGL02802:Cxxc1 UTSW 18 74,352,481 (GRCm39) nonsense probably null
P0018:Cxxc1 UTSW 18 74,353,992 (GRCm39) missense probably damaging 1.00
R0534:Cxxc1 UTSW 18 74,351,962 (GRCm39) missense probably benign 0.00
R0557:Cxxc1 UTSW 18 74,351,845 (GRCm39) missense possibly damaging 0.92
R0576:Cxxc1 UTSW 18 74,353,256 (GRCm39) missense possibly damaging 0.47
R0673:Cxxc1 UTSW 18 74,351,984 (GRCm39) missense possibly damaging 0.92
R1539:Cxxc1 UTSW 18 74,352,278 (GRCm39) missense possibly damaging 0.53
R1714:Cxxc1 UTSW 18 74,352,934 (GRCm39) missense probably damaging 1.00
R4763:Cxxc1 UTSW 18 74,352,484 (GRCm39) missense probably damaging 0.98
R5252:Cxxc1 UTSW 18 74,353,022 (GRCm39) missense probably benign 0.30
R6908:Cxxc1 UTSW 18 74,353,630 (GRCm39) missense probably damaging 1.00
R7064:Cxxc1 UTSW 18 74,353,678 (GRCm39) critical splice donor site probably null
R7305:Cxxc1 UTSW 18 74,352,467 (GRCm39) missense probably benign 0.02
R7404:Cxxc1 UTSW 18 74,352,278 (GRCm39) missense possibly damaging 0.95
R7708:Cxxc1 UTSW 18 74,349,314 (GRCm39) start gained probably benign
R7790:Cxxc1 UTSW 18 74,350,855 (GRCm39) missense probably damaging 0.99
R7956:Cxxc1 UTSW 18 74,352,054 (GRCm39) splice site probably null
R8183:Cxxc1 UTSW 18 74,353,428 (GRCm39) missense probably damaging 1.00
R8337:Cxxc1 UTSW 18 74,353,910 (GRCm39) missense possibly damaging 0.51
R8673:Cxxc1 UTSW 18 74,351,915 (GRCm39) missense probably benign 0.04
R8735:Cxxc1 UTSW 18 74,350,331 (GRCm39) missense possibly damaging 0.93
R8799:Cxxc1 UTSW 18 74,354,128 (GRCm39) critical splice acceptor site probably benign
R9122:Cxxc1 UTSW 18 74,350,246 (GRCm39) missense probably benign
R9607:Cxxc1 UTSW 18 74,353,479 (GRCm39) critical splice donor site probably null
R9624:Cxxc1 UTSW 18 74,352,512 (GRCm39) missense possibly damaging 0.73
T0975:Cxxc1 UTSW 18 74,353,992 (GRCm39) missense probably damaging 1.00
X0028:Cxxc1 UTSW 18 74,351,872 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATTGCTGGGAGAAGCTTCGG -3'
(R):5'- CCTTTGATAAGGGCAAACGG -3'

Sequencing Primer
(F):5'- GTGTAACCCTGGGTGTGACC -3'
(R):5'- CAAACGGAAGCCAAAACGTG -3'
Posted On 2017-02-15