Incidental Mutation 'R6016:Dcaf12'
| ID |
478593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf12
|
| Ensembl Gene |
ENSMUSG00000028436 |
| Gene Name |
DDB1 and CUL4 associated factor 12 |
| Synonyms |
1500001L20Rik, Wdr40a, 5830424K06Rik |
| MMRRC Submission |
043255-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.258)
|
| Stock # |
R6016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
41291300-41314889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41313267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 93
(F93L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030145]
|
| AlphaFold |
Q8BGZ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030145
AA Change: F93L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030145
Gene: ENSMUSG00000028436
AA Change: F93L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
77 |
116 |
1.53e2 |
SMART |
|
Blast:WD40
|
121 |
169 |
5e-20 |
BLAST |
|
WD40
|
172 |
211 |
3.75e-4 |
SMART |
|
WD40
|
236 |
280 |
4.44e0 |
SMART |
|
Blast:WD40
|
284 |
323 |
7e-7 |
BLAST |
|
WD40
|
328 |
366 |
2.37e2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157313
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]
|
| Allele List at MGI |
All alleles(25) : Gene trapped(25) |
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9b |
T |
C |
15: 77,620,058 (GRCm39) |
S285P |
probably damaging |
Het |
| Casz1 |
C |
A |
4: 149,019,041 (GRCm39) |
N447K |
probably damaging |
Het |
| Cltb |
T |
C |
13: 54,754,480 (GRCm39) |
T71A |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,328,030 (GRCm39) |
Y2135H |
probably damaging |
Het |
| Entpd2 |
C |
T |
2: 25,288,568 (GRCm39) |
R191W |
probably damaging |
Het |
| Gm17067 |
G |
T |
7: 42,357,654 (GRCm39) |
P283T |
probably benign |
Het |
| Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
| Gne |
T |
C |
4: 44,039,063 (GRCm39) |
E532G |
probably damaging |
Het |
| Gsdmc3 |
T |
G |
15: 63,740,261 (GRCm39) |
D86A |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,099,922 (GRCm39) |
H256R |
probably damaging |
Het |
| Il19 |
T |
A |
1: 130,863,718 (GRCm39) |
D16V |
probably damaging |
Het |
| Lats2 |
A |
T |
14: 57,971,632 (GRCm39) |
N14K |
probably damaging |
Het |
| Mill2 |
G |
T |
7: 18,590,373 (GRCm39) |
S151I |
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,390,227 (GRCm39) |
R392H |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,545 (GRCm39) |
|
probably null |
Het |
| Or14j8 |
A |
T |
17: 38,262,967 (GRCm39) |
V316D |
probably benign |
Het |
| Or2bd2 |
A |
T |
7: 6,443,613 (GRCm39) |
H238L |
probably benign |
Het |
| Or5p5 |
A |
T |
7: 107,414,219 (GRCm39) |
I143F |
probably benign |
Het |
| Pde1a |
T |
C |
2: 79,695,406 (GRCm39) |
R446G |
probably benign |
Het |
| Pes1 |
T |
A |
11: 3,928,004 (GRCm39) |
M552K |
possibly damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,045,225 (GRCm39) |
T1074S |
possibly damaging |
Het |
| Psg23 |
G |
T |
7: 18,346,112 (GRCm39) |
H194Q |
probably benign |
Het |
| Rprd2 |
A |
G |
3: 95,694,685 (GRCm39) |
V116A |
probably damaging |
Het |
| Shkbp1 |
A |
G |
7: 27,053,826 (GRCm39) |
V124A |
possibly damaging |
Het |
| Slc38a8 |
A |
T |
8: 120,221,044 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
A |
G |
14: 110,987,958 (GRCm39) |
V583A |
probably benign |
Het |
| Sptbn5 |
G |
T |
2: 119,880,573 (GRCm39) |
|
noncoding transcript |
Het |
| Stab1 |
A |
T |
14: 30,880,950 (GRCm39) |
I614N |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,983,148 (GRCm39) |
T246A |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,882,734 (GRCm39) |
L187P |
probably damaging |
Het |
| Vmn1r157 |
A |
G |
7: 22,461,272 (GRCm39) |
R51G |
possibly damaging |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,453 (GRCm39) |
I610K |
probably damaging |
Het |
|
| Other mutations in Dcaf12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01988:Dcaf12
|
APN |
4 |
41,298,299 (GRCm39) |
missense |
probably benign |
|
|
IGL02252:Dcaf12
|
APN |
4 |
41,294,085 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02508:Dcaf12
|
APN |
4 |
41,296,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0066:Dcaf12
|
UTSW |
4 |
41,298,338 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0066:Dcaf12
|
UTSW |
4 |
41,298,338 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0382:Dcaf12
|
UTSW |
4 |
41,302,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Dcaf12
|
UTSW |
4 |
41,302,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2095:Dcaf12
|
UTSW |
4 |
41,294,085 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5109:Dcaf12
|
UTSW |
4 |
41,298,329 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5434:Dcaf12
|
UTSW |
4 |
41,302,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5755:Dcaf12
|
UTSW |
4 |
41,313,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6160:Dcaf12
|
UTSW |
4 |
41,294,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Dcaf12
|
UTSW |
4 |
41,301,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8786:Dcaf12
|
UTSW |
4 |
41,296,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9017:Dcaf12
|
UTSW |
4 |
41,299,411 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9627:Dcaf12
|
UTSW |
4 |
41,293,976 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGCTAGAGTAAACCAAGTCC -3'
(R):5'- ATCATTCGCTGCACAAAAGG -3'
Sequencing Primer
(F):5'- TAGATAGTTCGAGGCCAGCC -3'
(R):5'- TCATTCGCTGCACAAAAGGAAAAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation