Incidental Mutation 'R2342:Dcaf8'
| ID |
246772 |
| 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 |
040328-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.840)
|
| Stock # |
R2342 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171975574-172023960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 172013928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 373
(H373R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074144]
[ENSMUST00000191689]
[ENSMUST00000192704]
[ENSMUST00000193638]
|
| AlphaFold |
Q8N7N5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074144
AA Change: H373R
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000073778
Gene: ENSMUSG00000026554
AA Change: H373R
| 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 |
possibly damaging
Transcript: ENSMUST00000191689
AA Change: H373R
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141731
Gene: ENSMUSG00000026554
AA Change: H373R
| 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: ENSMUST00000191891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192428
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192704
AA Change: H373R
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141732
Gene: ENSMUSG00000026554
AA Change: H373R
| 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 |
possibly damaging
Transcript: ENSMUST00000193638
AA Change: H373R
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141836
Gene: ENSMUSG00000026554
AA Change: H373R
| 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 |
unknown
Transcript: ENSMUST00000195345
AA Change: H99R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195011
|
| Meta Mutation Damage Score |
0.0831 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (39/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
C |
T |
13: 98,130,537 (GRCm39) |
E434K |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,515 (GRCm39) |
M236K |
probably benign |
Het |
| Camk1 |
T |
C |
6: 113,318,942 (GRCm39) |
|
probably benign |
Het |
| Chd8 |
A |
C |
14: 52,442,674 (GRCm39) |
N625K |
probably benign |
Het |
| Dscam |
G |
A |
16: 96,420,702 (GRCm39) |
T1728M |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,802,896 (GRCm39) |
|
probably benign |
Het |
| Epha2 |
C |
T |
4: 141,050,842 (GRCm39) |
A866V |
probably benign |
Het |
| Frmd6 |
C |
A |
12: 70,930,592 (GRCm39) |
Y237* |
probably null |
Het |
| Glg1 |
A |
T |
8: 111,914,439 (GRCm39) |
C448* |
probably null |
Het |
| Gm4787 |
G |
T |
12: 81,425,532 (GRCm39) |
R209S |
possibly damaging |
Het |
| Hhipl1 |
T |
C |
12: 108,284,721 (GRCm39) |
L358P |
probably damaging |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,063 (GRCm39) |
T315I |
possibly damaging |
Het |
| Irak2 |
C |
A |
6: 113,670,632 (GRCm39) |
T539K |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 40,809,208 (GRCm39) |
G2568C |
possibly damaging |
Het |
| Meis1 |
C |
T |
11: 18,831,647 (GRCm39) |
A464T |
probably damaging |
Het |
| Or10g1b |
C |
A |
14: 52,627,322 (GRCm39) |
A303S |
possibly damaging |
Het |
| Or6a2 |
T |
C |
7: 106,600,116 (GRCm39) |
D317G |
probably benign |
Het |
| Orc4 |
A |
G |
2: 48,817,152 (GRCm39) |
S179P |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,729,691 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
T |
A |
15: 99,204,049 (GRCm39) |
V174D |
probably damaging |
Het |
| Rnf169 |
T |
C |
7: 99,574,652 (GRCm39) |
K648E |
possibly damaging |
Het |
| Rtf1 |
A |
G |
2: 119,542,598 (GRCm39) |
T301A |
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,747,207 (GRCm39) |
V528A |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,238,540 (GRCm39) |
V308A |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,354,680 (GRCm39) |
V335A |
possibly damaging |
Het |
| Skint6 |
T |
A |
4: 113,034,180 (GRCm39) |
T316S |
probably benign |
Het |
| Tbl2 |
G |
A |
5: 135,187,607 (GRCm39) |
R288Q |
possibly damaging |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,353,599 (GRCm39) |
K1469E |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,501,316 (GRCm39) |
Y92H |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnt16 |
A |
G |
6: 22,288,923 (GRCm39) |
E80G |
probably damaging |
Het |
| Zbtb10 |
C |
T |
3: 9,330,255 (GRCm39) |
P538S |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,804,113 (GRCm39) |
H454Y |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGATAAGGTAGCGTTTGAAAATGG -3'
(R):5'- TTACTGAGGCCCTGTCTTGG -3'
Sequencing Primer
(F):5'- TAGCGTTTGAAAATGGATTGGAG -3'
(R):5'- CCACATGATGGTGCAAATTTCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation