Incidental Mutation 'IGL00763:Dcaf4'
ID |
10078 |
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 # |
IGL00763
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
83567240-83588694 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 83586107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 358
(R358H)
|
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: R345H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021645 Gene: ENSMUSG00000021222 AA Change: R345H
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 |
noncoding transcript
Transcript: ENSMUST00000222607
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222725
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223291
AA Change: R358H
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bmp3 |
A |
C |
5: 99,020,238 (GRCm39) |
R220S |
possibly damaging |
Het |
Bms1 |
A |
G |
6: 118,395,363 (GRCm39) |
|
probably benign |
Het |
Ccdc138 |
T |
A |
10: 58,411,537 (GRCm39) |
F635Y |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,518,823 (GRCm39) |
|
probably benign |
Het |
Cntnap5a |
T |
C |
1: 116,045,407 (GRCm39) |
I341T |
possibly damaging |
Het |
Cog5 |
C |
T |
12: 31,715,531 (GRCm39) |
|
probably benign |
Het |
Ddx10 |
A |
C |
9: 53,071,326 (GRCm39) |
|
probably benign |
Het |
Fgf15 |
T |
A |
7: 144,453,629 (GRCm39) |
F201I |
probably damaging |
Het |
Galp |
A |
G |
7: 6,211,499 (GRCm39) |
Y40C |
probably damaging |
Het |
Ints6 |
A |
G |
14: 62,938,314 (GRCm39) |
|
probably benign |
Het |
Iqcb1 |
A |
T |
16: 36,676,649 (GRCm39) |
|
probably benign |
Het |
Kif19a |
G |
A |
11: 114,657,994 (GRCm39) |
V18I |
probably benign |
Het |
Lypd8l |
T |
G |
11: 58,503,707 (GRCm39) |
|
probably benign |
Het |
Morc1 |
A |
C |
16: 48,432,689 (GRCm39) |
Q719P |
probably damaging |
Het |
Pla2g4a |
T |
C |
1: 149,727,076 (GRCm39) |
D568G |
probably damaging |
Het |
Plscr4 |
A |
G |
9: 92,366,998 (GRCm39) |
E204G |
probably null |
Het |
Rasgrf1 |
A |
G |
9: 89,853,073 (GRCm39) |
T403A |
probably benign |
Het |
Sec16b |
A |
G |
1: 157,356,827 (GRCm39) |
T12A |
probably benign |
Het |
Slc12a7 |
A |
T |
13: 73,942,201 (GRCm39) |
N359I |
possibly damaging |
Het |
Slc14a2 |
G |
T |
18: 78,235,453 (GRCm39) |
D241E |
probably damaging |
Het |
Slc23a2 |
G |
T |
2: 131,943,420 (GRCm39) |
A27E |
probably benign |
Het |
Slc38a8 |
T |
C |
8: 120,220,958 (GRCm39) |
I200M |
probably benign |
Het |
Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
Tmc6 |
A |
G |
11: 117,669,872 (GRCm39) |
L20P |
probably damaging |
Het |
Tnfsfm13 |
T |
C |
11: 69,575,536 (GRCm39) |
D256G |
probably benign |
Het |
Tonsl |
C |
T |
15: 76,518,068 (GRCm39) |
A605T |
probably damaging |
Het |
Usp28 |
A |
G |
9: 48,939,463 (GRCm39) |
T240A |
probably benign |
Het |
Zap70 |
A |
T |
1: 36,818,333 (GRCm39) |
D340V |
possibly damaging |
Het |
Zfp512b |
A |
T |
2: 181,231,944 (GRCm39) |
F100I |
probably damaging |
Het |
|
Other mutations in Dcaf4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2012-12-06 |