Incidental Mutation 'IGL02970:Dcaf4'
| ID |
365765 |
| 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 # |
IGL02970
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
83567240-83588694 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83575989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 46
(D46G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021645]
[ENSMUST00000222502]
[ENSMUST00000223291]
|
| AlphaFold |
A0A1Y7VNZ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021645
AA Change: D46G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000021645
Gene: ENSMUSG00000021222
AA Change: D46G
| 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 |
probably damaging
Transcript: ENSMUST00000222502
AA Change: D46G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222833
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223291
AA Change: D59G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| 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 |
|---|
| 1700019A02Rik |
C |
T |
1: 53,226,748 (GRCm39) |
G5S |
probably damaging |
Het |
| A2ml1 |
A |
T |
6: 128,546,942 (GRCm39) |
F396I |
probably damaging |
Het |
| BC051019 |
T |
A |
7: 109,315,262 (GRCm39) |
N331I |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,757,557 (GRCm39) |
S912L |
possibly damaging |
Het |
| Dido1 |
C |
T |
2: 180,331,208 (GRCm39) |
R80Q |
probably damaging |
Het |
| Dnase2b |
A |
G |
3: 146,288,261 (GRCm39) |
V278A |
probably damaging |
Het |
| Drosha |
C |
T |
15: 12,914,042 (GRCm39) |
L1106F |
probably damaging |
Het |
| Dsc3 |
C |
A |
18: 20,101,317 (GRCm39) |
W692L |
probably damaging |
Het |
| F2 |
T |
A |
2: 91,455,896 (GRCm39) |
Y579F |
possibly damaging |
Het |
| Fam43a |
C |
T |
16: 30,419,922 (GRCm39) |
R169C |
probably damaging |
Het |
| Gm9772 |
A |
G |
17: 22,225,540 (GRCm39) |
F120S |
probably damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,523,819 (GRCm39) |
S251P |
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,578,776 (GRCm39) |
E258G |
probably damaging |
Het |
| Itgam |
G |
A |
7: 127,685,215 (GRCm39) |
E443K |
probably benign |
Het |
| Kif18a |
T |
C |
2: 109,118,233 (GRCm39) |
V16A |
probably damaging |
Het |
| Lrrn3 |
T |
G |
12: 41,502,359 (GRCm39) |
S653R |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,567,242 (GRCm39) |
Y1826* |
probably null |
Het |
| Mbnl1 |
T |
C |
3: 60,520,844 (GRCm39) |
F139S |
probably damaging |
Het |
| Micu3 |
T |
C |
8: 40,835,171 (GRCm39) |
Y509H |
possibly damaging |
Het |
| Ncmap |
T |
C |
4: 135,104,329 (GRCm39) |
T17A |
probably damaging |
Het |
| Oas1h |
T |
A |
5: 120,999,698 (GRCm39) |
M61K |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,945,291 (GRCm39) |
W2183R |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,126,794 (GRCm39) |
|
probably benign |
Het |
| Plekho1 |
C |
T |
3: 95,898,214 (GRCm39) |
V150I |
probably damaging |
Het |
| Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
| Prf1 |
T |
C |
10: 61,135,957 (GRCm39) |
S78P |
probably benign |
Het |
| Prss12 |
A |
G |
3: 123,276,411 (GRCm39) |
S347G |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,076,559 (GRCm39) |
S208P |
probably damaging |
Het |
| Sgms1 |
A |
G |
19: 32,137,165 (GRCm39) |
Y134H |
probably damaging |
Het |
| Sult2a4 |
A |
G |
7: 13,643,831 (GRCm39) |
|
probably benign |
Het |
| T |
C |
T |
17: 8,654,217 (GRCm39) |
A134V |
probably damaging |
Het |
| Thoc5 |
A |
G |
11: 4,854,201 (GRCm39) |
T187A |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,344,919 (GRCm39) |
S1595G |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,064,315 (GRCm39) |
S30P |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,917,990 (GRCm39) |
S151P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,583,334 (GRCm39) |
T22520S |
probably damaging |
Het |
| Usp54 |
G |
A |
14: 20,627,540 (GRCm39) |
S420L |
probably damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,567 (GRCm39) |
Y83N |
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 |
|
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 |
2015-12-18 |
Incidental Mutation