Incidental Mutation 'P0018:Cxxc1'
ID 7646
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 038271-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # P0018 (G1)
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 74349283-74354564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74353992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 593 (R593C)
Ref Sequence ENSEMBL: ENSMUSP00000025444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025444]
AlphaFold Q9CWW7
Predicted Effect probably damaging
Transcript: ENSMUST00000025444
AA Change: R593C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025444
Gene: ENSMUSG00000024560
AA Change: R593C

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 0.6546 question?
Coding Region Coverage
  • 1x: 83.8%
  • 3x: 77.4%
  • 10x: 57.9%
  • 20x: 38.3%
Validation Efficiency 72% (76/106)
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A T 4: 144,429,767 (GRCm39) D407E probably benign Het
Brip1 C T 11: 85,999,694 (GRCm39) V763I possibly damaging Het
Cspg4b A G 13: 113,504,040 (GRCm39) D1723G possibly damaging Het
Erbb4 T A 1: 68,110,835 (GRCm39) M993L probably benign Het
Ftsj3 C A 11: 106,145,634 (GRCm39) M66I possibly damaging Het
Galnt2 T A 8: 125,063,350 (GRCm39) Y357N probably damaging Het
Hgsnat C T 8: 26,458,382 (GRCm39) probably benign Het
Katna1 A T 10: 7,617,223 (GRCm39) T72S probably damaging Het
Nell1 A G 7: 49,770,439 (GRCm39) D166G probably damaging Het
Nlgn1 G T 3: 25,490,741 (GRCm39) P329T probably damaging Het
Pclo A T 5: 14,727,735 (GRCm39) probably benign Het
Robo2 T C 16: 73,843,694 (GRCm39) I174V possibly damaging Het
Sufu A G 19: 46,463,933 (GRCm39) probably benign Het
Tmub1 C A 5: 24,651,755 (GRCm39) A55S 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
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
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
Protein Function and Prediction

Cxxc1 encodes CpG binding protein (CGBP), a transcriptional activator that binds to DNA that contains unmethylated CpG motifs (1;2).  CGBP is necessary for mammalian embryogenesis, cytosine methylation, and cellular proliferation, and cellular differentiation (3;4).

Expression/Localization

CGBP is expressed ubiquitously in both embryonic and adult tissues (1;2).  CGBP localizes to the nuclear matrix and to nuclear speckles associated with euchromatin (5).

Background

Cxxc1tm1Skk/tm1Skk; MGI:2654854

involves: 129S/SvEv * C57BL/6

Mice homozygous for a targeted null mutation exhibit embryonic lethality and developmental patterning defects prior to E6.5 (1).

References
Posted On 2012-10-29
Science Writer Anne Murray