Incidental Mutation 'R4546:Dcaf8'
| ID |
333744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf8
|
| Ensembl Gene |
ENSMUSG00000026554 |
| Gene Name |
DDB1 and CUL4 associated factor 8 |
| Synonyms |
D1Ucla4, D1Dau35e, Wdr42a, H326 |
| MMRRC Submission |
041780-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.840)
|
| Stock # |
R4546 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171975574-172023960 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 172007460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074144]
[ENSMUST00000191689]
[ENSMUST00000192704]
[ENSMUST00000193638]
|
| AlphaFold |
Q8N7N5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074144
|
| SMART Domains |
Protein: ENSMUSP00000073778
Gene: ENSMUSG00000026554
| 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 benign
Transcript: ENSMUST00000191689
|
| SMART Domains |
Protein: ENSMUSP00000141731
Gene: ENSMUSG00000026554
| 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 |
noncoding transcript
Transcript: ENSMUST00000192428
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192704
|
| SMART Domains |
Protein: ENSMUSP00000141732
Gene: ENSMUSG00000026554
| 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 benign
Transcript: ENSMUST00000193638
|
| SMART Domains |
Protein: ENSMUSP00000141836
Gene: ENSMUSG00000026554
| 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 |
probably benign
Transcript: ENSMUST00000195345
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195394
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
97% (65/67) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
G |
A |
14: 70,393,927 (GRCm39) |
S236L |
probably benign |
Het |
| Ahcyl |
C |
T |
16: 45,974,330 (GRCm39) |
C349Y |
possibly damaging |
Het |
| Alg9 |
C |
T |
9: 50,716,654 (GRCm39) |
T409M |
possibly damaging |
Het |
| Alpi |
T |
A |
1: 87,026,839 (GRCm39) |
Y413F |
probably damaging |
Het |
| Asmt |
T |
C |
X: 169,110,230 (GRCm39) |
|
probably null |
Het |
| Atf7 |
A |
G |
15: 102,442,762 (GRCm39) |
V449A |
probably benign |
Het |
| Bnc2 |
A |
G |
4: 84,210,213 (GRCm39) |
F744L |
probably benign |
Het |
| Ccnyl1 |
G |
T |
1: 64,762,735 (GRCm39) |
M347I |
probably benign |
Het |
| Cdk13 |
T |
C |
13: 17,941,159 (GRCm39) |
K21R |
probably damaging |
Het |
| Cenpf |
A |
C |
1: 189,386,847 (GRCm39) |
L1811R |
probably damaging |
Het |
| Cfap91 |
C |
T |
16: 38,155,885 (GRCm39) |
V113I |
probably benign |
Het |
| Cr2 |
A |
G |
1: 194,853,349 (GRCm39) |
I43T |
possibly damaging |
Het |
| Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
| Cylc2 |
A |
T |
4: 51,229,840 (GRCm39) |
D394V |
unknown |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Dlec1 |
A |
T |
9: 118,957,146 (GRCm39) |
I796F |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,494,971 (GRCm39) |
Q1343L |
probably damaging |
Het |
| Dnajc21 |
T |
C |
15: 10,447,183 (GRCm39) |
R522G |
probably benign |
Het |
| F2rl3 |
C |
T |
8: 73,489,211 (GRCm39) |
A146V |
probably benign |
Het |
| Fastkd1 |
C |
T |
2: 69,542,655 (GRCm39) |
E51K |
probably damaging |
Het |
| Glrb |
T |
C |
3: 80,786,993 (GRCm39) |
S57G |
probably damaging |
Het |
| Gm5507 |
T |
A |
18: 54,117,409 (GRCm39) |
|
noncoding transcript |
Het |
| Golga4 |
A |
G |
9: 118,385,913 (GRCm39) |
K22E |
probably damaging |
Het |
| Hdac1-ps |
A |
T |
17: 78,800,388 (GRCm39) |
T460S |
probably benign |
Het |
| Ift122 |
T |
A |
6: 115,867,549 (GRCm39) |
L433Q |
probably damaging |
Het |
| Il21r |
A |
G |
7: 125,228,071 (GRCm39) |
R181G |
probably damaging |
Het |
| Il5ra |
G |
T |
6: 106,715,459 (GRCm39) |
S125* |
probably null |
Het |
| Kdm7a |
T |
C |
6: 39,152,406 (GRCm39) |
R97G |
probably benign |
Het |
| Lepr |
T |
A |
4: 101,671,838 (GRCm39) |
I954N |
probably benign |
Het |
| Lims1 |
T |
C |
10: 58,254,612 (GRCm39) |
|
probably benign |
Het |
| Mest |
T |
C |
6: 30,740,679 (GRCm39) |
W13R |
probably damaging |
Het |
| Mfn2 |
A |
G |
4: 147,971,909 (GRCm39) |
V224A |
probably benign |
Het |
| Muc15 |
T |
C |
2: 110,567,844 (GRCm39) |
S330P |
probably damaging |
Het |
| Ncapg |
T |
C |
5: 45,828,554 (GRCm39) |
F102L |
probably damaging |
Het |
| Nkd2 |
T |
C |
13: 73,971,475 (GRCm39) |
D187G |
probably benign |
Het |
| Nphp1 |
C |
T |
2: 127,607,939 (GRCm39) |
|
probably null |
Het |
| Or10ag59 |
T |
C |
2: 87,405,530 (GRCm39) |
F34S |
probably benign |
Het |
| Or1e19 |
T |
C |
11: 73,316,012 (GRCm39) |
N266D |
probably benign |
Het |
| Or2a12 |
C |
T |
6: 42,904,348 (GRCm39) |
S61L |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,414,836 (GRCm39) |
V409A |
possibly damaging |
Het |
| Pdhx |
A |
T |
2: 102,903,742 (GRCm39) |
L18Q |
probably null |
Het |
| Pear1 |
C |
T |
3: 87,661,968 (GRCm39) |
G469D |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,065,757 (GRCm39) |
T1506A |
probably benign |
Het |
| Plod3 |
T |
A |
5: 137,017,801 (GRCm39) |
D192E |
possibly damaging |
Het |
| Rbks |
T |
C |
5: 31,781,912 (GRCm39) |
N296S |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,899,770 (GRCm39) |
V421I |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
| Tmem200c |
A |
G |
17: 69,149,166 (GRCm39) |
D583G |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,809,841 (GRCm39) |
Y1079C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,652,932 (GRCm39) |
|
probably null |
Het |
| Vcp |
T |
C |
4: 42,988,813 (GRCm39) |
|
probably benign |
Het |
| Vmn2r78 |
T |
C |
7: 86,603,811 (GRCm39) |
V663A |
probably damaging |
Het |
| Vmn2r9 |
T |
G |
5: 108,995,551 (GRCm39) |
M366L |
probably benign |
Het |
| Wdr11 |
A |
G |
7: 129,230,729 (GRCm39) |
E878G |
probably damaging |
Het |
| Zan |
C |
G |
5: 137,382,096 (GRCm39) |
M5150I |
unknown |
Het |
|
| Other mutations in Dcaf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03163:Dcaf8
|
APN |
1 |
172,000,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGACCATCTTGGATCTTTGAAG -3'
(R):5'- AATGTATCCTAAGTCTCAACCTCTC -3'
Sequencing Primer
(F):5'- GGTGGTAGTGGTGTTTGTTTTG -3'
(R):5'- CCTCTCAAACATACAAAAGACTGTTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation