Incidental Mutation 'R4163:Dcaf8'
| ID |
321590 |
| 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 |
041006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.840)
|
| Stock # |
R4163 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171975574-172023960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 172020137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 492
(L492R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013842]
[ENSMUST00000074144]
[ENSMUST00000111247]
[ENSMUST00000191689]
[ENSMUST00000192704]
[ENSMUST00000193638]
|
| AlphaFold |
Q8N7N5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013842
|
| SMART Domains |
Protein: ENSMUSP00000013842
Gene: ENSMUSG00000013698
| Domain | Start | End | E-Value | Type |
|---|
|
DED
|
2 |
81 |
2.25e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074144
AA Change: L492R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073778
Gene: ENSMUSG00000026554
AA Change: L492R
| 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: ENSMUST00000111247
|
| SMART Domains |
Protein: ENSMUSP00000106878
Gene: ENSMUSG00000013698
| Domain | Start | End | E-Value | Type |
|---|
|
DED
|
2 |
59 |
9.4e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191689
AA Change: L492R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141731
Gene: ENSMUSG00000026554
AA Change: L492R
| 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 |
unknown
Transcript: ENSMUST00000191891
AA Change: L88R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192031
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192704
AA Change: L492R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141732
Gene: ENSMUSG00000026554
AA Change: L492R
| 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: ENSMUST00000195345
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195011
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195394
|
| 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 |
|
| Meta Mutation Damage Score |
0.9498 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (59/59) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555F03Rik |
G |
A |
8: 49,948,531 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8a |
C |
T |
11: 109,941,808 (GRCm39) |
D1154N |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,978,477 (GRCm39) |
F289L |
probably benign |
Het |
| Alkbh2 |
A |
G |
5: 114,265,613 (GRCm39) |
L63S |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,360,068 (GRCm39) |
N19K |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,933,975 (GRCm39) |
Y2544N |
probably damaging |
Het |
| Bnip5 |
T |
C |
17: 29,118,503 (GRCm39) |
Y643C |
probably benign |
Het |
| Bpifa3 |
A |
G |
2: 153,977,516 (GRCm39) |
N118S |
probably damaging |
Het |
| Chst10 |
T |
A |
1: 38,910,904 (GRCm39) |
M87L |
probably benign |
Het |
| Cnot9 |
C |
T |
1: 74,568,006 (GRCm39) |
P298L |
probably damaging |
Het |
| Cops5 |
T |
C |
1: 10,100,912 (GRCm39) |
Y228C |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,748,959 (GRCm39) |
S128G |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,346,051 (GRCm39) |
R198G |
possibly damaging |
Het |
| Elovl7 |
T |
A |
13: 108,403,904 (GRCm39) |
M82K |
possibly damaging |
Het |
| Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
| Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
| Fcgr2b |
T |
C |
1: 170,791,016 (GRCm39) |
D259G |
possibly damaging |
Het |
| Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
| Frk |
C |
T |
10: 34,467,868 (GRCm39) |
P294L |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm128 |
C |
A |
3: 95,147,802 (GRCm39) |
R164L |
probably benign |
Het |
| Gm2223 |
C |
T |
X: 32,943,247 (GRCm39) |
|
noncoding transcript |
Het |
| Hexd |
C |
A |
11: 121,111,975 (GRCm39) |
A423E |
probably benign |
Het |
| Itgax |
G |
T |
7: 127,743,872 (GRCm39) |
V878F |
probably benign |
Het |
| Kank2 |
A |
T |
9: 21,706,864 (GRCm39) |
D51E |
probably damaging |
Het |
| Kcna4 |
G |
C |
2: 107,126,151 (GRCm39) |
W295S |
probably damaging |
Het |
| Mfsd12 |
A |
G |
10: 81,196,931 (GRCm39) |
|
probably null |
Het |
| Mis12 |
A |
G |
11: 70,916,482 (GRCm39) |
T172A |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
| Myo18a |
G |
T |
11: 77,720,534 (GRCm39) |
R1103L |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Ntrk2 |
T |
C |
13: 59,008,054 (GRCm39) |
V272A |
probably damaging |
Het |
| Or2ag17 |
A |
T |
7: 106,389,486 (GRCm39) |
C241S |
probably damaging |
Het |
| Or5p64 |
A |
T |
7: 107,855,039 (GRCm39) |
I102N |
probably benign |
Het |
| Or7e165 |
A |
T |
9: 19,695,086 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Pcdh20 |
C |
T |
14: 88,705,615 (GRCm39) |
D562N |
probably damaging |
Het |
| Prep |
T |
C |
10: 44,943,436 (GRCm39) |
F4L |
probably benign |
Het |
| Prep |
G |
T |
10: 44,943,458 (GRCm39) |
R11L |
possibly damaging |
Het |
| Ptgs1 |
C |
T |
2: 36,141,346 (GRCm39) |
R598C |
possibly damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,113,135 (GRCm39) |
D759G |
probably benign |
Het |
| Setd5 |
T |
C |
6: 113,096,545 (GRCm39) |
S584P |
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,433,797 (GRCm39) |
D1514G |
probably damaging |
Het |
| Shox2 |
T |
C |
3: 66,881,104 (GRCm39) |
|
probably benign |
Het |
| Slc44a5 |
A |
T |
3: 153,967,010 (GRCm39) |
R565S |
possibly damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,615,139 (GRCm39) |
L236S |
probably benign |
Het |
| Slfn3 |
A |
T |
11: 83,103,596 (GRCm39) |
I156F |
probably damaging |
Het |
| Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
T |
C |
7: 127,607,080 (GRCm39) |
V203A |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,497,915 (GRCm39) |
I90L |
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,026,999 (GRCm39) |
Y788N |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,485,822 (GRCm39) |
T166A |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCTCCTCTACTGCCAGGG -3'
(R):5'- TTCAGAGCTCAGGACTGTCC -3'
Sequencing Primer
(F):5'- CTCTACTGCCAGGGCTATTGG -3'
(R):5'- TCAGGACTGTCCCAGAGATG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation