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)
|
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
2. Voo, K. S., Carlone, D. L., Jacobsen, B. M., Flodin, A., and Skalnik, D. G. (2000) Cloning of a Mammalian Transcriptional Activator that Binds Unmethylated CpG Motifs and Shares a CXXC Domain with DNA Methyltransferase, Human Trithorax, and Methyl-CpG Binding Domain Protein 1. Mol Cell Biol. 20, 2108-2121.
|
Posted On |
2012-10-29 |
Science Writer |
Anne Murray |