Incidental Mutation 'R4499:Dcaf4'
ID |
331764 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcaf4
|
Ensembl Gene |
ENSMUSG00000021222 |
Gene Name |
DDB1 and CUL4 associated factor 4 |
Synonyms |
Wdr21, 1110018E21Rik |
MMRRC Submission |
041752-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R4499 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
83567240-83588694 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83586134 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 367
(L367Q)
|
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: L354Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000021645 Gene: ENSMUSG00000021222 AA Change: L354Q
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: L367Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Meta Mutation Damage Score |
0.5225 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
92% (47/51) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,464,646 (GRCm39) |
W948R |
possibly damaging |
Het |
Ache |
A |
C |
5: 137,290,194 (GRCm39) |
M508L |
probably damaging |
Het |
Adgrb2 |
A |
T |
4: 129,886,454 (GRCm39) |
E198V |
probably damaging |
Het |
Adgrl4 |
A |
G |
3: 151,216,422 (GRCm39) |
N535S |
possibly damaging |
Het |
Agbl3 |
T |
C |
6: 34,834,533 (GRCm39) |
S906P |
probably benign |
Het |
Akna |
T |
C |
4: 63,313,278 (GRCm39) |
T282A |
probably benign |
Het |
Arfgef2 |
G |
A |
2: 166,727,734 (GRCm39) |
V1561M |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,484,091 (GRCm39) |
D1388G |
possibly damaging |
Het |
Asnsd1 |
A |
G |
1: 53,387,129 (GRCm39) |
V166A |
probably benign |
Het |
Bank1 |
T |
C |
3: 135,990,004 (GRCm39) |
I29V |
probably benign |
Het |
Bpifb5 |
A |
T |
2: 154,082,678 (GRCm39) |
I484F |
possibly damaging |
Het |
Camta2 |
T |
C |
11: 70,565,512 (GRCm39) |
E788G |
probably damaging |
Het |
Ccdc18 |
T |
G |
5: 108,376,826 (GRCm39) |
S1422R |
possibly damaging |
Het |
Cdc42bpg |
C |
T |
19: 6,370,585 (GRCm39) |
P1226L |
possibly damaging |
Het |
Cep126 |
T |
C |
9: 8,101,589 (GRCm39) |
N315S |
possibly damaging |
Het |
Dcc |
A |
T |
18: 71,680,388 (GRCm39) |
V616D |
probably benign |
Het |
Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
Dgkq |
C |
G |
5: 108,797,527 (GRCm39) |
E788D |
possibly damaging |
Het |
Dpep2 |
T |
C |
8: 106,712,114 (GRCm39) |
E282G |
probably benign |
Het |
Gm8221 |
T |
A |
15: 77,510,245 (GRCm39) |
|
noncoding transcript |
Het |
Ice1 |
T |
C |
13: 70,757,146 (GRCm39) |
S280G |
possibly damaging |
Het |
Lrrc2 |
A |
T |
9: 110,791,713 (GRCm39) |
Q155L |
probably benign |
Het |
Mesd |
G |
A |
7: 83,547,185 (GRCm39) |
R216Q |
probably benign |
Het |
Msh6 |
T |
A |
17: 88,287,697 (GRCm39) |
N112K |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,781,778 (GRCm39) |
E307G |
probably benign |
Het |
Nod1 |
T |
A |
6: 54,920,981 (GRCm39) |
N446Y |
probably damaging |
Het |
Nrap |
G |
A |
19: 56,339,913 (GRCm39) |
T787I |
probably damaging |
Het |
P2ry12 |
A |
G |
3: 59,125,078 (GRCm39) |
I199T |
probably damaging |
Het |
Prr11 |
T |
G |
11: 86,989,533 (GRCm39) |
K279N |
possibly damaging |
Het |
Psg25 |
C |
T |
7: 18,258,816 (GRCm39) |
E287K |
possibly damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,615 (GRCm39) |
S56G |
probably benign |
Het |
Slc16a7 |
T |
C |
10: 125,064,056 (GRCm39) |
N427S |
probably damaging |
Het |
Slc47a1 |
T |
A |
11: 61,250,355 (GRCm39) |
I341L |
probably benign |
Het |
Slc9a8 |
T |
A |
2: 167,266,113 (GRCm39) |
L30Q |
probably benign |
Het |
Ssh2 |
T |
A |
11: 77,283,893 (GRCm39) |
L49* |
probably null |
Het |
Stard9 |
T |
A |
2: 120,530,722 (GRCm39) |
D2326E |
probably benign |
Het |
Thbs1 |
T |
C |
2: 117,950,431 (GRCm39) |
I688T |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,746,822 (GRCm39) |
E4742D |
probably benign |
Het |
Vps37b |
T |
C |
5: 124,145,689 (GRCm39) |
I117V |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,343,782 (GRCm39) |
M2008L |
probably benign |
Het |
Zfp1005 |
T |
G |
2: 150,111,362 (GRCm39) |
V684G |
possibly damaging |
Het |
Zfp53 |
A |
G |
17: 21,729,497 (GRCm39) |
E510G |
probably damaging |
Het |
Zswim8 |
T |
A |
14: 20,764,365 (GRCm39) |
S578R |
probably benign |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCACAAGTGACACTGGAGG -3'
(R):5'- TGGTACATCTGTGTGACCTGC -3'
Sequencing Primer
(F):5'- GGCTCTGTTACATAGAAGAACCCTG -3'
(R):5'- GCACCCTGCTATCTTAAAGGC -3'
|
Posted On |
2015-07-21 |