Incidental Mutation 'P0018:Cxxc1'
ID7646
Institutional Source Beutler Lab
Gene Symbol Cxxc1
Ensembl Gene ENSMUSG00000024560
Gene NameCXXC finger 1 (PHD domain)
Synonyms2410002I16Rik, 5830420C16Rik, PHF18, Cgbp, Cfp1
MMRRC Submission 038271-MU
Accession Numbers

Ncbi RefSeq: NM_028868.3; MGI:1921572

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #P0018 (G1)
Quality Score
Status Validated
Chromosome18
Chromosomal Location74216131-74221491 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 74220921 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 593 (R593C)
Ref Sequence ENSEMBL: ENSMUSP00000025444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025444]
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 Strain: 2654854
Lethality: E1-E7
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
BC067074 A G 13: 113,367,506 D1723G possibly damaging Het
Brip1 C T 11: 86,108,868 V763I possibly damaging Het
Erbb4 T A 1: 68,071,676 M993L probably benign Het
Ftsj3 C A 11: 106,254,808 M66I possibly damaging Het
Galnt2 T A 8: 124,336,611 Y357N probably damaging Het
Gm13178 A T 4: 144,703,197 D407E probably benign Het
Hgsnat C T 8: 25,968,354 probably benign Het
Katna1 A T 10: 7,741,459 T72S probably damaging Het
Nell1 A G 7: 50,120,691 D166G probably damaging Het
Nlgn1 G T 3: 25,436,577 P329T probably damaging Het
Pclo A T 5: 14,677,721 probably benign Het
Robo2 T C 16: 74,046,806 I174V possibly damaging Het
Sufu A G 19: 46,475,494 probably benign Het
Tmub1 C A 5: 24,446,757 A55S possibly damaging Het
Other mutations in Cxxc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01477:Cxxc1 APN 18 74219914 missense possibly damaging 0.83
IGL02250:Cxxc1 APN 18 74219169 missense probably benign 0.00
IGL02640:Cxxc1 APN 18 74221183 missense probably damaging 1.00
IGL02802:Cxxc1 UTSW 18 74219410 nonsense probably null
R0534:Cxxc1 UTSW 18 74218891 missense probably benign 0.00
R0557:Cxxc1 UTSW 18 74218774 missense possibly damaging 0.92
R0576:Cxxc1 UTSW 18 74220185 missense possibly damaging 0.47
R0673:Cxxc1 UTSW 18 74218913 missense possibly damaging 0.92
R1539:Cxxc1 UTSW 18 74219207 missense possibly damaging 0.53
R1714:Cxxc1 UTSW 18 74219863 missense probably damaging 1.00
R4763:Cxxc1 UTSW 18 74219413 missense probably damaging 0.98
R5252:Cxxc1 UTSW 18 74219951 missense probably benign 0.30
R5890:Cxxc1 UTSW 18 74221166 missense possibly damaging 0.68
R6908:Cxxc1 UTSW 18 74220559 missense probably damaging 1.00
R7064:Cxxc1 UTSW 18 74220607 critical splice donor site probably null
R7305:Cxxc1 UTSW 18 74219396 missense probably benign 0.02
R7404:Cxxc1 UTSW 18 74219207 missense possibly damaging 0.95
R7790:Cxxc1 UTSW 18 74217784 missense probably damaging 0.99
T0975:Cxxc1 UTSW 18 74220921 missense probably damaging 1.00
X0028:Cxxc1 UTSW 18 74218801 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 On2012-10-29
Science WriterAnne Murray