Incidental Mutation 'R0576:Cxxc1'
ID 56248
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 038766-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0576 (G1)
Quality Score 199
Status Validated
Chromosome 18
Chromosomal Location 74349283-74354564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74353256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 497 (I497T)
Ref Sequence ENSEMBL: ENSMUSP00000025444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025444]
AlphaFold Q9CWW7
Predicted Effect possibly damaging
Transcript: ENSMUST00000025444
AA Change: I497T

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025444
Gene: ENSMUSG00000024560
AA Change: I497T

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
Meta Mutation Damage Score 0.2044 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.6%
  • 20x: 94.9%
Validation Efficiency 92% (47/51)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc77 T A 6: 120,308,809 (GRCm39) L335F probably benign Het
Ccr3 T A 9: 123,829,046 (GRCm39) F127Y probably damaging Het
Cfap43 T C 19: 47,785,579 (GRCm39) N437S probably benign Het
Cfh A G 1: 140,064,553 (GRCm39) V365A probably damaging Het
Copg1 T A 6: 87,874,945 (GRCm39) V380D probably damaging Het
Disp3 G A 4: 148,326,047 (GRCm39) T1237I possibly damaging Het
Dnaaf9 A T 2: 130,555,390 (GRCm39) F839L probably benign Het
Dnah7a A T 1: 53,675,246 (GRCm39) F360L probably benign Het
Dnhd1 C T 7: 105,363,252 (GRCm39) A3938V probably damaging Het
Eif4g1 A G 16: 20,502,818 (GRCm39) D1000G probably damaging Het
Emsy A T 7: 98,242,983 (GRCm39) V1052D probably damaging Het
Ep400 A G 5: 110,858,959 (GRCm39) probably benign Het
Fa2h T C 8: 112,082,779 (GRCm39) H146R probably damaging Het
Gad1 G A 2: 70,424,996 (GRCm39) C430Y probably benign Het
Gtse1 T C 15: 85,753,252 (GRCm39) S456P probably damaging Het
Gucy2g T C 19: 55,187,202 (GRCm39) T1073A probably damaging Het
Hectd2 T G 19: 36,562,897 (GRCm39) N3K probably benign Het
Hmcn1 A T 1: 150,525,768 (GRCm39) C3318* probably null Het
Lipo2 C T 19: 33,726,824 (GRCm39) S71N probably benign Het
Mynn G T 3: 30,661,217 (GRCm39) D100Y probably damaging Het
Myo16 G A 8: 10,612,318 (GRCm39) probably null Het
Npr2 G T 4: 43,640,947 (GRCm39) K384N probably benign Het
Nrde2 A G 12: 100,098,492 (GRCm39) V725A possibly damaging Het
Or11h23 T A 14: 50,948,661 (GRCm39) S291R probably damaging Het
Or2l13 A G 16: 19,305,938 (GRCm39) M117V probably damaging Het
Otud7a C T 7: 63,335,266 (GRCm39) P101S possibly damaging Het
Pcdhb7 T A 18: 37,475,410 (GRCm39) L182Q probably benign Het
Pdss1 A G 2: 22,805,425 (GRCm39) probably null Het
Ppargc1b T A 18: 61,444,512 (GRCm39) H233L probably damaging Het
Ppm1b A G 17: 85,320,987 (GRCm39) probably null Het
Prdm14 A T 1: 13,195,949 (GRCm39) S37R possibly damaging Het
Prss45 A G 9: 110,667,497 (GRCm39) T39A probably benign Het
Qars1 T C 9: 108,392,161 (GRCm39) probably benign Het
Rxfp2 T G 5: 149,961,712 (GRCm39) H77Q probably benign Het
Scd4 A G 19: 44,329,685 (GRCm39) M219V probably benign Het
Sec24b G T 3: 129,834,985 (GRCm39) P71Q probably benign Het
Snd1 T G 6: 28,886,576 (GRCm39) V861G probably benign Het
Sspo A G 6: 48,441,876 (GRCm39) probably null Het
Tas2r129 A G 6: 132,928,497 (GRCm39) T145A probably benign Het
Tbc1d31 T A 15: 57,833,120 (GRCm39) I953N possibly damaging Het
Tlr4 A G 4: 66,757,732 (GRCm39) N175S probably benign Het
Tspyl4 A G 10: 34,174,518 (GRCm39) N337D probably damaging Het
Ttn A T 2: 76,642,545 (GRCm39) L13330H probably damaging Het
Usp33 T A 3: 152,089,756 (GRCm39) Y765* probably null Het
Vmn2r59 T A 7: 41,696,529 (GRCm39) Y71F probably benign Het
Zbed6 A G 1: 133,585,576 (GRCm39) F587S probably benign Het
Zfhx4 T C 3: 5,467,161 (GRCm39) S2465P probably 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
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
R5890:Cxxc1 UTSW 18 74,354,237 (GRCm39) missense possibly damaging 0.68
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'- AGGCCATCATTCTTCGCGCTAAG -3'
(R):5'- TGTGGGGTACATGGACCCAAAAGAC -3'

Sequencing Primer
(F):5'- TTCGCGCTAAGCAGCAAG -3'
(R):5'- CTGGCTCTCATACTACAGGGATG -3'
Posted On 2013-07-11