Incidental Mutation 'IGL01401:Dcaf4'
| ID |
79633 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dcaf4
|
| Ensembl Gene |
ENSMUSG00000021222 |
| Gene Name |
DDB1 and CUL4 associated factor 4 |
| Synonyms |
Wdr21, 1110018E21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL01401
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
83567240-83588694 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83588148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 449
(D449G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021645]
[ENSMUST00000223291]
|
| AlphaFold |
A0A1Y7VNZ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021645
AA Change: D436G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021645
Gene: ENSMUSG00000021222
AA Change: D436G
| 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: ENSMUST00000221944
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223291
AA Change: D449G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| 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 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
C |
5: 81,836,516 (GRCm39) |
V758A |
possibly damaging |
Het |
| Arf4 |
T |
C |
14: 26,359,609 (GRCm39) |
L12P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,996,441 (GRCm39) |
N1051S |
probably benign |
Het |
| C4bp |
A |
T |
1: 130,575,801 (GRCm39) |
V230E |
possibly damaging |
Het |
| Carm1 |
T |
A |
9: 21,480,878 (GRCm39) |
|
probably null |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Ceacam16 |
T |
C |
7: 19,595,054 (GRCm39) |
Y8C |
probably benign |
Het |
| Ckap2l |
A |
T |
2: 129,111,136 (GRCm39) |
V687E |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,278,746 (GRCm39) |
Y1113C |
probably benign |
Het |
| Fry |
A |
G |
5: 150,362,253 (GRCm39) |
I161V |
probably benign |
Het |
| Gm17093 |
A |
C |
14: 44,758,984 (GRCm39) |
M169L |
unknown |
Het |
| Gm20721 |
A |
G |
2: 174,187,295 (GRCm39) |
D999G |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,713,361 (GRCm39) |
H840R |
probably damaging |
Het |
| Hoxc12 |
C |
A |
15: 102,845,755 (GRCm39) |
H156Q |
probably benign |
Het |
| Htr3b |
T |
C |
9: 48,858,934 (GRCm39) |
D68G |
probably damaging |
Het |
| Inpp5b |
T |
C |
4: 124,639,880 (GRCm39) |
V99A |
probably damaging |
Het |
| Klhl42 |
C |
T |
6: 147,009,241 (GRCm39) |
T360M |
probably benign |
Het |
| Lmo7 |
C |
T |
14: 102,031,713 (GRCm39) |
R36* |
probably null |
Het |
| Lmod3 |
T |
G |
6: 97,229,513 (GRCm39) |
N7T |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Mthfd2l |
T |
A |
5: 91,148,425 (GRCm39) |
I284K |
possibly damaging |
Het |
| Myo1e |
T |
A |
9: 70,234,448 (GRCm39) |
I267N |
probably damaging |
Het |
| Or13c7d |
T |
C |
4: 43,770,112 (GRCm39) |
R300G |
probably damaging |
Het |
| Or2y1g |
T |
A |
11: 49,171,314 (GRCm39) |
V113E |
possibly damaging |
Het |
| Prkce |
T |
C |
17: 86,476,268 (GRCm39) |
V83A |
probably damaging |
Het |
| Pxdn |
G |
T |
12: 30,051,983 (GRCm39) |
C540F |
probably damaging |
Het |
| Resf1 |
A |
G |
6: 149,228,394 (GRCm39) |
E480G |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,606,238 (GRCm39) |
E4448V |
possibly damaging |
Het |
| Scn1a |
A |
T |
2: 66,119,455 (GRCm39) |
N1349K |
probably damaging |
Het |
| Smarcc1 |
T |
C |
9: 109,979,033 (GRCm39) |
I172T |
possibly damaging |
Het |
| Syt16 |
T |
C |
12: 74,269,437 (GRCm39) |
V92A |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,523,474 (GRCm39) |
Y1672C |
probably damaging |
Het |
| Tmem131 |
A |
G |
1: 36,838,468 (GRCm39) |
Y1486H |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,838,888 (GRCm39) |
|
probably benign |
Het |
| Usp40 |
A |
T |
1: 87,921,920 (GRCm39) |
D314E |
probably damaging |
Het |
| Vmn2r79 |
G |
A |
7: 86,686,481 (GRCm39) |
V621I |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,167,509 (GRCm39) |
|
probably benign |
Het |
| Wwc1 |
C |
A |
11: 35,789,445 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
2013-11-05 |
Incidental Mutation