Incidental Mutation 'R0673:Cxxc1'
| ID |
61546 |
| 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 |
038858-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0673 (G1)
|
| Quality Score |
84 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
74349283-74354564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74351984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 287
(D287G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025444]
|
| AlphaFold |
Q9CWW7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025444
AA Change: D287G
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025444
Gene: ENSMUSG00000024560
AA Change: D287G
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
C |
T |
17: 46,043,999 (GRCm39) |
W86* |
probably null |
Het |
| 2700049A03Rik |
C |
T |
12: 71,224,642 (GRCm39) |
P894S |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,593,849 (GRCm39) |
N122K |
possibly damaging |
Het |
| Ankrd13d |
A |
T |
19: 4,323,047 (GRCm39) |
|
probably null |
Het |
| Blm |
A |
T |
7: 80,149,499 (GRCm39) |
|
probably null |
Het |
| Caml |
C |
T |
13: 55,779,641 (GRCm39) |
T238M |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,624,440 (GRCm39) |
V411D |
possibly damaging |
Het |
| Cdc25b |
A |
G |
2: 131,039,182 (GRCm39) |
N516D |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,505 (GRCm39) |
I2861T |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,777,336 (GRCm39) |
L1294P |
probably damaging |
Het |
| Dgkq |
T |
C |
5: 108,803,455 (GRCm39) |
H217R |
probably damaging |
Het |
| Disp2 |
A |
T |
2: 118,621,325 (GRCm39) |
I686F |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,100,794 (GRCm39) |
N2003I |
probably benign |
Het |
| Dsc3 |
T |
A |
18: 20,122,647 (GRCm39) |
R92S |
probably damaging |
Het |
| Ei24 |
T |
G |
9: 36,699,551 (GRCm39) |
|
probably null |
Het |
| Fgl1 |
G |
T |
8: 41,644,661 (GRCm39) |
T281K |
probably benign |
Het |
| Gbp3 |
A |
G |
3: 142,271,015 (GRCm39) |
T140A |
probably benign |
Het |
| Gtpbp3 |
A |
T |
8: 71,945,379 (GRCm39) |
I485F |
probably damaging |
Het |
| Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
| Inmt |
A |
C |
6: 55,148,212 (GRCm39) |
V139G |
probably damaging |
Het |
| Inpp5j |
T |
A |
11: 3,451,147 (GRCm39) |
M501L |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,062,588 (GRCm39) |
N1647S |
probably damaging |
Het |
| Lgals9 |
A |
G |
11: 78,856,679 (GRCm39) |
F252L |
probably damaging |
Het |
| Lingo3 |
C |
A |
10: 80,671,618 (GRCm39) |
R104L |
probably benign |
Het |
| Lrrc8c |
G |
A |
5: 105,755,544 (GRCm39) |
V440M |
probably damaging |
Het |
| Mybpc3 |
G |
A |
2: 90,950,772 (GRCm39) |
G36D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,998,773 (GRCm39) |
N1254K |
probably benign |
Het |
| Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
| Nudt12 |
A |
T |
17: 59,314,617 (GRCm39) |
|
probably null |
Het |
| Or2l5 |
A |
G |
16: 19,334,146 (GRCm39) |
M80T |
probably damaging |
Het |
| Or4c3d |
A |
C |
2: 89,882,596 (GRCm39) |
M24R |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
| Prr14l |
C |
T |
5: 32,986,259 (GRCm39) |
D1079N |
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,808,449 (GRCm39) |
T494A |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,447,664 (GRCm39) |
K3237E |
possibly damaging |
Het |
| Sh3d19 |
T |
C |
3: 86,014,280 (GRCm39) |
S415P |
probably benign |
Het |
| Sypl1 |
A |
T |
12: 33,015,420 (GRCm39) |
T40S |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,613,333 (GRCm39) |
|
probably null |
Het |
| Tmed8 |
A |
G |
12: 87,220,878 (GRCm39) |
V236A |
probably damaging |
Het |
| Vmn1r33 |
T |
C |
6: 66,588,783 (GRCm39) |
Y257C |
probably damaging |
Het |
| Yme1l1 |
T |
C |
2: 23,058,300 (GRCm39) |
F144S |
probably benign |
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 |
|
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'- GCCTAGCAAGTTCAGATGACAGCTC -3'
(R):5'- TCAGTTCCCAAGCAGCCTGTTC -3'
Sequencing Primer
(F):5'- TACCTTTGTTAGACAGGCAAGGC -3'
(R):5'- AAGCAGCCTGTTCCCCTC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation