Incidental Mutation 'IGL03163:Dcaf8'
| ID |
411520 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dcaf8
|
| Ensembl Gene |
ENSMUSG00000026554 |
| Gene Name |
DDB1 and CUL4 associated factor 8 |
| Synonyms |
D1Ucla4, D1Dau35e, Wdr42a, H326 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.840)
|
| Stock # |
IGL03163
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
171975574-172023960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172000475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 211
(V211A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074144]
[ENSMUST00000191689]
[ENSMUST00000192704]
[ENSMUST00000193638]
|
| AlphaFold |
Q8N7N5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074144
AA Change: V211A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000073778
Gene: ENSMUSG00000026554
AA Change: V211A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
176 |
215 |
3.42e-7 |
SMART |
|
WD40
|
218 |
260 |
2e-1 |
SMART |
|
WD40
|
264 |
306 |
1.71e1 |
SMART |
|
WD40
|
314 |
354 |
5.73e0 |
SMART |
|
WD40
|
369 |
409 |
1.43e0 |
SMART |
|
WD40
|
415 |
457 |
2.58e-1 |
SMART |
|
WD40
|
460 |
500 |
5.91e-2 |
SMART |
|
low complexity region
|
544 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
584 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191689
AA Change: V211A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141731
Gene: ENSMUSG00000026554
AA Change: V211A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
176 |
215 |
3.42e-7 |
SMART |
|
WD40
|
218 |
260 |
2e-1 |
SMART |
|
WD40
|
264 |
306 |
1.71e1 |
SMART |
|
WD40
|
314 |
354 |
5.73e0 |
SMART |
|
WD40
|
369 |
409 |
1.43e0 |
SMART |
|
WD40
|
415 |
457 |
2.58e-1 |
SMART |
|
WD40
|
460 |
500 |
5.91e-2 |
SMART |
|
low complexity region
|
544 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
584 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192031
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192704
AA Change: V211A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141732
Gene: ENSMUSG00000026554
AA Change: V211A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
176 |
215 |
3.42e-7 |
SMART |
|
WD40
|
218 |
260 |
2e-1 |
SMART |
|
WD40
|
264 |
306 |
1.71e1 |
SMART |
|
WD40
|
314 |
354 |
5.73e0 |
SMART |
|
WD40
|
369 |
409 |
1.43e0 |
SMART |
|
WD40
|
415 |
457 |
2.58e-1 |
SMART |
|
WD40
|
460 |
500 |
5.91e-2 |
SMART |
|
low complexity region
|
544 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
584 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193638
AA Change: V211A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141836
Gene: ENSMUSG00000026554
AA Change: V211A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
176 |
215 |
3.42e-7 |
SMART |
|
WD40
|
218 |
260 |
2e-1 |
SMART |
|
WD40
|
264 |
306 |
1.71e1 |
SMART |
|
WD40
|
314 |
354 |
5.73e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195011
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195394
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195345
|
| 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 |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,228,191 (GRCm39) |
D393V |
probably benign |
Het |
| Amz2 |
C |
A |
11: 109,319,751 (GRCm39) |
Q46K |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,780,681 (GRCm39) |
R1911H |
probably damaging |
Het |
| Apba3 |
A |
G |
10: 81,105,057 (GRCm39) |
|
probably null |
Het |
| Atxn1l |
T |
C |
8: 110,459,017 (GRCm39) |
N415S |
probably damaging |
Het |
| Clu |
C |
T |
14: 66,217,235 (GRCm39) |
S356F |
probably benign |
Het |
| Cluh |
T |
C |
11: 74,556,894 (GRCm39) |
V1029A |
probably benign |
Het |
| Creb3 |
C |
T |
4: 43,566,315 (GRCm39) |
L274F |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Fam131c |
T |
C |
4: 141,110,069 (GRCm39) |
F156L |
probably damaging |
Het |
| Fbxw21 |
T |
A |
9: 108,974,552 (GRCm39) |
I323F |
probably benign |
Het |
| Fmo9 |
A |
G |
1: 166,502,019 (GRCm39) |
V202A |
possibly damaging |
Het |
| Gipr |
C |
T |
7: 18,896,481 (GRCm39) |
W205* |
probably null |
Het |
| Gm13941 |
A |
T |
2: 110,928,761 (GRCm39) |
I99K |
unknown |
Het |
| Gpr22 |
A |
T |
12: 31,759,171 (GRCm39) |
V317E |
possibly damaging |
Het |
| Hace1 |
T |
C |
10: 45,548,701 (GRCm39) |
I582T |
probably damaging |
Het |
| Iho1 |
G |
T |
9: 108,282,132 (GRCm39) |
L519I |
probably benign |
Het |
| Khdrbs1 |
T |
C |
4: 129,619,508 (GRCm39) |
E211G |
probably benign |
Het |
| Lonrf1 |
T |
C |
8: 36,697,484 (GRCm39) |
D500G |
probably benign |
Het |
| Lrp2 |
A |
C |
2: 69,331,870 (GRCm39) |
Y1628* |
probably null |
Het |
| Lrrc40 |
T |
C |
3: 157,747,224 (GRCm39) |
I112T |
possibly damaging |
Het |
| Matr3 |
G |
A |
18: 35,705,644 (GRCm39) |
D190N |
probably damaging |
Het |
| Or8c16 |
T |
C |
9: 38,130,710 (GRCm39) |
V194A |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,739,212 (GRCm39) |
D2326V |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,222,020 (GRCm39) |
D557G |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,600,801 (GRCm39) |
N194K |
probably damaging |
Het |
| Rasgef1c |
T |
C |
11: 49,862,200 (GRCm39) |
V363A |
possibly damaging |
Het |
| Ric8b |
A |
G |
10: 84,837,686 (GRCm39) |
N498D |
probably damaging |
Het |
| Scn1a |
A |
C |
2: 66,148,418 (GRCm39) |
D22E |
probably benign |
Het |
| Spc25 |
T |
G |
2: 69,027,548 (GRCm39) |
I115L |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,461,266 (GRCm39) |
H3569R |
probably benign |
Het |
| Stra6l |
T |
C |
4: 45,881,455 (GRCm39) |
I439T |
probably benign |
Het |
| Trappc12 |
G |
T |
12: 28,796,653 (GRCm39) |
P293Q |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,155,630 (GRCm39) |
L761P |
possibly damaging |
Het |
| Usp15 |
A |
C |
10: 123,007,049 (GRCm39) |
M144R |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,692 (GRCm39) |
I271V |
probably benign |
Het |
| Zcchc2 |
T |
C |
1: 105,958,841 (GRCm39) |
V1104A |
probably damaging |
Het |
| Zftraf1 |
A |
T |
15: 76,543,474 (GRCm39) |
L13Q |
probably damaging |
Het |
|
| Other mutations in Dcaf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4976:Dcaf8
|
UTSW |
1 |
172,000,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Dcaf8
|
UTSW |
1 |
172,000,364 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0329:Dcaf8
|
UTSW |
1 |
172,014,978 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0458:Dcaf8
|
UTSW |
1 |
172,001,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0729:Dcaf8
|
UTSW |
1 |
172,000,221 (GRCm39) |
missense |
probably benign |
|
|
R0731:Dcaf8
|
UTSW |
1 |
172,000,076 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1389:Dcaf8
|
UTSW |
1 |
172,001,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1496:Dcaf8
|
UTSW |
1 |
172,021,422 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1719:Dcaf8
|
UTSW |
1 |
172,003,062 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1856:Dcaf8
|
UTSW |
1 |
172,003,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2342:Dcaf8
|
UTSW |
1 |
172,013,928 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2512:Dcaf8
|
UTSW |
1 |
172,016,602 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4163:Dcaf8
|
UTSW |
1 |
172,020,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4546:Dcaf8
|
UTSW |
1 |
172,007,460 (GRCm39) |
splice site |
probably benign |
|
|
R4880:Dcaf8
|
UTSW |
1 |
172,015,056 (GRCm39) |
intron |
probably benign |
|
|
R5092:Dcaf8
|
UTSW |
1 |
172,014,476 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5622:Dcaf8
|
UTSW |
1 |
172,013,965 (GRCm39) |
intron |
probably benign |
|
|
R5734:Dcaf8
|
UTSW |
1 |
172,000,478 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6245:Dcaf8
|
UTSW |
1 |
171,993,434 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R7090:Dcaf8
|
UTSW |
1 |
172,016,535 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8178:Dcaf8
|
UTSW |
1 |
172,013,886 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8734:Dcaf8
|
UTSW |
1 |
172,021,427 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8978:Dcaf8
|
UTSW |
1 |
172,022,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8985:Dcaf8
|
UTSW |
1 |
172,000,199 (GRCm39) |
missense |
probably benign |
|
|
R9014:Dcaf8
|
UTSW |
1 |
172,007,530 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9423:Dcaf8
|
UTSW |
1 |
172,007,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Dcaf8
|
UTSW |
1 |
171,999,909 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
Z1176:Dcaf8
|
UTSW |
1 |
172,000,496 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Posted On |
2016-08-02 |
Incidental Mutation