Incidental Mutation 'R0032:Dcaf4'
| ID |
15286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf4
|
| Ensembl Gene |
ENSMUSG00000021222 |
| Gene Name |
DDB1 and CUL4 associated factor 4 |
| Synonyms |
Wdr21, 1110018E21Rik |
| MMRRC Submission |
038326-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R0032 (G1)
of strain
731
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
83567240-83588694 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 83582762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021645]
[ENSMUST00000223291]
|
| AlphaFold |
A0A1Y7VNZ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021645
|
| SMART Domains |
Protein: ENSMUSP00000021645
Gene: ENSMUSG00000021222
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
61 |
N/A |
INTRINSIC |
|
Blast:WD40
|
274 |
313 |
2e-14 |
BLAST |
|
WD40
|
361 |
399 |
8.36e-2 |
SMART |
|
WD40
|
402 |
443 |
7.4e0 |
SMART |
|
Blast:WD40
|
446 |
494 |
1e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221769
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222833
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223291
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 80.9%
- 3x: 73.4%
- 10x: 52.4%
- 20x: 32.5%
|
| Validation Efficiency |
94% (87/93) |
| 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 Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]
|
| Allele List at MGI |
All alleles(39) : Gene trapped(39) |
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
A |
10: 106,959,156 (GRCm39) |
T97S |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,094,729 (GRCm39) |
S552P |
possibly damaging |
Het |
| C2cd3 |
T |
A |
7: 100,093,652 (GRCm39) |
|
probably benign |
Het |
| Cd86 |
A |
T |
16: 36,441,235 (GRCm39) |
S77R |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,768,559 (GRCm39) |
R188H |
probably benign |
Het |
| Cpne8 |
T |
A |
15: 90,453,771 (GRCm39) |
|
probably benign |
Het |
| Ctsg |
T |
A |
14: 56,339,196 (GRCm39) |
I21F |
probably damaging |
Het |
| Cyp2j9 |
T |
G |
4: 96,457,043 (GRCm39) |
N476T |
possibly damaging |
Het |
| Dennd4c |
T |
C |
4: 86,746,387 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
T |
12: 104,671,057 (GRCm39) |
L995* |
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,877,955 (GRCm39) |
K2623R |
possibly damaging |
Het |
| Dnajc21 |
G |
T |
15: 10,461,963 (GRCm39) |
T146K |
probably benign |
Het |
| Dnmbp |
A |
C |
19: 43,891,158 (GRCm39) |
L203R |
probably damaging |
Het |
| Eif4g1 |
C |
T |
16: 20,504,648 (GRCm39) |
S829F |
probably damaging |
Het |
| Enkur |
T |
C |
2: 21,194,115 (GRCm39) |
I153V |
probably benign |
Het |
| Erf |
T |
C |
7: 24,944,500 (GRCm39) |
Y277C |
possibly damaging |
Het |
| Fcsk |
G |
A |
8: 111,618,735 (GRCm39) |
T341M |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,555,742 (GRCm39) |
|
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,561,452 (GRCm39) |
|
probably null |
Het |
| Il11ra1 |
A |
G |
4: 41,768,187 (GRCm39) |
E366G |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,712,209 (GRCm39) |
C261R |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,681,377 (GRCm39) |
F998L |
probably benign |
Het |
| Krt74 |
T |
A |
15: 101,669,887 (GRCm39) |
|
noncoding transcript |
Het |
| Me2 |
T |
G |
18: 73,927,596 (GRCm39) |
M219L |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,292,523 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
T |
A |
4: 41,015,321 (GRCm39) |
V842E |
probably benign |
Het |
| Oma1 |
T |
A |
4: 103,223,209 (GRCm39) |
S465T |
possibly damaging |
Het |
| Opa1 |
A |
T |
16: 29,433,887 (GRCm39) |
H574L |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,542,179 (GRCm39) |
N804S |
possibly damaging |
Het |
| Pde4a |
C |
A |
9: 21,112,728 (GRCm39) |
|
probably benign |
Het |
| Pilra |
T |
A |
5: 137,829,527 (GRCm39) |
D179V |
probably damaging |
Het |
| Piwil1 |
G |
A |
5: 128,820,344 (GRCm39) |
S247N |
probably benign |
Het |
| Prss58 |
T |
G |
6: 40,872,633 (GRCm39) |
T158P |
probably benign |
Het |
| Slc35e3 |
T |
C |
10: 117,580,837 (GRCm39) |
M156V |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,414,198 (GRCm39) |
R938Q |
probably damaging |
Het |
| Syt8 |
T |
C |
7: 141,992,926 (GRCm39) |
V152A |
probably benign |
Het |
| Tppp2 |
G |
T |
14: 52,156,866 (GRCm39) |
R81L |
possibly damaging |
Het |
| Trpc3 |
A |
G |
3: 36,698,405 (GRCm39) |
I618T |
probably damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,168,565 (GRCm39) |
D891E |
unknown |
Het |
| Zfp120 |
A |
T |
2: 149,959,512 (GRCm39) |
V270E |
possibly damaging |
Het |
|
| Other mutations in Dcaf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00763:Dcaf4
|
APN |
12 |
83,586,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01401:Dcaf4
|
APN |
12 |
83,588,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02393:Dcaf4
|
APN |
12 |
83,576,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02970:Dcaf4
|
APN |
12 |
83,575,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB003:Dcaf4
|
UTSW |
12 |
83,580,703 (GRCm39) |
nonsense |
probably null |
|
|
BB013:Dcaf4
|
UTSW |
12 |
83,580,703 (GRCm39) |
nonsense |
probably null |
|
|
F5770:Dcaf4
|
UTSW |
12 |
83,584,475 (GRCm39) |
splice site |
probably null |
|
|
PIT4504001:Dcaf4
|
UTSW |
12 |
83,580,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0032:Dcaf4
|
UTSW |
12 |
83,582,762 (GRCm39) |
splice site |
probably benign |
|
|
R0164:Dcaf4
|
UTSW |
12 |
83,582,762 (GRCm39) |
splice site |
probably benign |
|
|
R0165:Dcaf4
|
UTSW |
12 |
83,582,762 (GRCm39) |
splice site |
probably benign |
|
|
R0167:Dcaf4
|
UTSW |
12 |
83,582,762 (GRCm39) |
splice site |
probably benign |
|
|
R0211:Dcaf4
|
UTSW |
12 |
83,582,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Dcaf4
|
UTSW |
12 |
83,582,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Dcaf4
|
UTSW |
12 |
83,584,817 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1191:Dcaf4
|
UTSW |
12 |
83,582,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4499:Dcaf4
|
UTSW |
12 |
83,586,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4896:Dcaf4
|
UTSW |
12 |
83,586,233 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4932:Dcaf4
|
UTSW |
12 |
83,579,078 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5882:Dcaf4
|
UTSW |
12 |
83,586,203 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7084:Dcaf4
|
UTSW |
12 |
83,584,571 (GRCm39) |
frame shift |
probably null |
|
|
R7564:Dcaf4
|
UTSW |
12 |
83,588,297 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7777:Dcaf4
|
UTSW |
12 |
83,584,733 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7926:Dcaf4
|
UTSW |
12 |
83,580,703 (GRCm39) |
nonsense |
probably null |
|
|
R8290:Dcaf4
|
UTSW |
12 |
83,588,333 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9418:Dcaf4
|
UTSW |
12 |
83,586,606 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9486:Dcaf4
|
UTSW |
12 |
83,582,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9735:Dcaf4
|
UTSW |
12 |
83,572,939 (GRCm39) |
missense |
probably benign |
|
|
V7583:Dcaf4
|
UTSW |
12 |
83,584,475 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2012-12-17 |
Incidental Mutation