Incidental Mutation 'R5252:Cxxc1'
| ID |
399152 |
| 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 |
042823-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5252 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
74349283-74354564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74353022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 444
(A444V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025444]
|
| AlphaFold |
Q9CWW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025444
AA Change: A444V
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025444
Gene: ENSMUSG00000024560
AA Change: A444V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12b |
G |
T |
11: 69,056,762 (GRCm39) |
R386L |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,935,261 (GRCm39) |
Y346N |
probably damaging |
Het |
| Cabp4 |
T |
C |
19: 4,186,067 (GRCm39) |
|
probably benign |
Het |
| Canx |
A |
T |
11: 50,199,621 (GRCm39) |
I148N |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,962,593 (GRCm39) |
V117A |
probably benign |
Het |
| Cdk12 |
A |
T |
11: 98,134,335 (GRCm39) |
N1078Y |
unknown |
Het |
| Cdk7 |
T |
A |
13: 100,866,968 (GRCm39) |
K42* |
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,817,489 (GRCm39) |
D274G |
unknown |
Het |
| Cux1 |
T |
C |
5: 136,337,151 (GRCm39) |
E696G |
probably damaging |
Het |
| Dll1 |
T |
C |
17: 15,588,951 (GRCm39) |
K575E |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,089,676 (GRCm39) |
F1130S |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,420,295 (GRCm39) |
F140L |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,163,450 (GRCm39) |
V1625A |
probably damaging |
Het |
| Evi5 |
T |
C |
5: 107,943,618 (GRCm39) |
T592A |
probably benign |
Het |
| Fas |
T |
C |
19: 34,294,043 (GRCm39) |
S133P |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,744,427 (GRCm39) |
S53P |
probably benign |
Het |
| H2-Q4 |
T |
C |
17: 35,599,411 (GRCm39) |
F165L |
probably benign |
Het |
| Ighv9-2 |
A |
G |
12: 114,072,838 (GRCm39) |
V45A |
probably benign |
Het |
| Inpp1 |
T |
G |
1: 52,833,706 (GRCm39) |
D130A |
probably benign |
Het |
| Lin54 |
C |
T |
5: 100,628,063 (GRCm39) |
V47I |
probably benign |
Het |
| Nav3 |
TGAAGAAGAAGAAGA |
TGAAGAAGAAGA |
10: 109,550,152 (GRCm39) |
|
probably benign |
Het |
| Nexn |
T |
C |
3: 151,943,590 (GRCm39) |
T438A |
probably benign |
Het |
| Or4c112 |
A |
T |
2: 88,853,598 (GRCm39) |
F250I |
probably damaging |
Het |
| Or8g4 |
T |
G |
9: 39,661,784 (GRCm39) |
I34S |
probably damaging |
Het |
| Pilrb1 |
T |
A |
5: 137,853,315 (GRCm39) |
M163L |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,420,635 (GRCm39) |
|
probably null |
Het |
| Ppard |
G |
A |
17: 28,517,822 (GRCm39) |
V297I |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,365,369 (GRCm39) |
V214A |
probably benign |
Het |
| Serpinc1 |
T |
C |
1: 160,817,191 (GRCm39) |
F95S |
probably damaging |
Het |
| Slc5a8 |
T |
C |
10: 88,742,209 (GRCm39) |
Y302H |
probably damaging |
Het |
| Slco4a1 |
G |
A |
2: 180,106,252 (GRCm39) |
A145T |
possibly damaging |
Het |
| Spata31g1 |
T |
A |
4: 42,971,706 (GRCm39) |
F346L |
probably benign |
Het |
| Sptlc2 |
A |
T |
12: 87,382,829 (GRCm39) |
M425K |
possibly damaging |
Het |
| Tent5c |
A |
G |
3: 100,380,024 (GRCm39) |
L244P |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,074,464 (GRCm39) |
S429P |
probably benign |
Het |
| Unc13a |
T |
A |
8: 72,105,208 (GRCm39) |
T723S |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,553,914 (GRCm39) |
I3468F |
possibly damaging |
Het |
| Utp20 |
A |
T |
10: 88,586,532 (GRCm39) |
D2547E |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,159,574 (GRCm39) |
D593G |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,315,756 (GRCm39) |
L1240P |
probably 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 |
|
|
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 |
|
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'- AGCTCACTCACTGCTTCTGG -3'
(R):5'- TAGCAACGTTCCATGTGACGC -3'
Sequencing Primer
(F):5'- TGGTGCCTCTCTGCCCG -3'
(R):5'- GATCTGCAGATCTGTGTCATCACTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation