Incidental Mutation 'R0534:Cxxc1'
| ID |
49394 |
| 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 |
038726-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0534 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
74349283-74354564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74351962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 280
(P280S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025444]
|
| AlphaFold |
Q9CWW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025444
AA Change: P280S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000025444
Gene: ENSMUSG00000024560
AA Change: P280S
| 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 |
0.0693 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
96% (47/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cand2 |
A |
G |
6: 115,764,197 (GRCm39) |
M324V |
probably damaging |
Het |
| Cap1 |
C |
T |
4: 122,756,512 (GRCm39) |
V340M |
probably benign |
Het |
| Ccdc110 |
T |
C |
8: 46,388,175 (GRCm39) |
V44A |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,183,059 (GRCm39) |
D139G |
probably benign |
Het |
| Cwc27 |
T |
A |
13: 104,768,124 (GRCm39) |
E457V |
unknown |
Het |
| Dennd2b |
A |
T |
7: 109,140,635 (GRCm39) |
V197D |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,559,393 (GRCm39) |
L595Q |
probably benign |
Het |
| Dscam |
G |
T |
16: 96,453,372 (GRCm39) |
S1292R |
possibly damaging |
Het |
| E2f4 |
C |
A |
8: 106,030,851 (GRCm39) |
F353L |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,485,097 (GRCm39) |
|
probably benign |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| Fign |
T |
A |
2: 63,811,135 (GRCm39) |
H45L |
probably damaging |
Het |
| Flcn |
T |
A |
11: 59,685,025 (GRCm39) |
|
probably benign |
Het |
| Gm5141 |
A |
T |
13: 62,922,408 (GRCm39) |
F254I |
probably damaging |
Het |
| Gpbp1l1 |
T |
A |
4: 116,448,465 (GRCm39) |
N402K |
probably damaging |
Het |
| Gpr37 |
A |
T |
6: 25,669,823 (GRCm39) |
C340* |
probably null |
Het |
| Gtf3c2 |
A |
T |
5: 31,315,476 (GRCm39) |
|
probably benign |
Het |
| Hcfc2 |
T |
A |
10: 82,574,242 (GRCm39) |
F139I |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,486,539 (GRCm39) |
L3178P |
possibly damaging |
Het |
| Hrc |
AGAGGAGGAGGAAGAGGAGGAGGA |
AGAGGAGGAGGAGGAAGAGGAGGAGGA |
7: 44,986,659 (GRCm39) |
|
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,857,622 (GRCm39) |
|
probably benign |
Het |
| Igsf9b |
T |
G |
9: 27,244,358 (GRCm39) |
|
probably null |
Het |
| Il23r |
G |
A |
6: 67,403,572 (GRCm39) |
A443V |
probably benign |
Het |
| Kcnv1 |
A |
G |
15: 44,972,645 (GRCm39) |
F413L |
probably damaging |
Het |
| Lipe |
C |
A |
7: 25,087,611 (GRCm39) |
A150S |
possibly damaging |
Het |
| Lrrcc1 |
T |
C |
3: 14,622,333 (GRCm39) |
S557P |
probably damaging |
Het |
| Mrpl54 |
C |
A |
10: 81,102,687 (GRCm39) |
W13L |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,056,952 (GRCm39) |
|
probably benign |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Npy1r |
C |
A |
8: 67,157,670 (GRCm39) |
Q327K |
probably damaging |
Het |
| Nt5el |
C |
A |
13: 105,218,762 (GRCm39) |
S32* |
probably null |
Het |
| Or51b17 |
C |
T |
7: 103,542,438 (GRCm39) |
R168H |
probably benign |
Het |
| Osbpl10 |
C |
T |
9: 114,996,246 (GRCm39) |
L139F |
probably damaging |
Het |
| P2rx6 |
A |
C |
16: 17,385,768 (GRCm39) |
T199P |
probably damaging |
Het |
| Phyhip |
A |
T |
14: 70,699,199 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Psmc1 |
T |
A |
12: 100,086,389 (GRCm39) |
I342N |
possibly damaging |
Het |
| Reln |
A |
T |
5: 22,152,406 (GRCm39) |
D2353E |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,976,851 (GRCm39) |
E294G |
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,366,647 (GRCm39) |
M615V |
probably benign |
Het |
| Shcbp1l |
T |
A |
1: 153,304,314 (GRCm39) |
D124E |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,472,054 (GRCm39) |
S1345P |
possibly damaging |
Het |
| Taf7l2 |
T |
C |
10: 115,948,707 (GRCm39) |
E273G |
possibly damaging |
Het |
| Timp4 |
A |
G |
6: 115,226,802 (GRCm39) |
Y114H |
probably damaging |
Het |
| Tlr9 |
T |
A |
9: 106,102,086 (GRCm39) |
L459Q |
probably benign |
Het |
| Tmem104 |
C |
A |
11: 115,091,654 (GRCm39) |
T59K |
probably damaging |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
| Zfp622 |
A |
T |
15: 25,984,654 (GRCm39) |
I7F |
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 |
|
|
P0018:Cxxc1
|
UTSW |
18 |
74,353,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTAGCAAGTTCAGATGACAGCTC -3'
(R):5'- TCAGTTCCCAAGCAGCCTGTTC -3'
Sequencing Primer
(F):5'- TACCTTTGTTAGACAGGCAAGGC -3'
(R):5'- AAGCAGCCTGTTCCCCTC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation