Incidental Mutation 'R5734:Dcaf8'
| ID |
451569 |
| 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 |
043348-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.825)
|
| Stock # |
R5734 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171975574-172023960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172000478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 212
(V212A)
|
| 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: V212A
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073778
Gene: ENSMUSG00000026554
AA Change: V212A
| 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: V212A
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141731
Gene: ENSMUSG00000026554
AA Change: V212A
| 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 |
possibly damaging
Transcript: ENSMUST00000192704
AA Change: V212A
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141732
Gene: ENSMUSG00000026554
AA Change: V212A
| 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: V212A
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141836
Gene: ENSMUSG00000026554
AA Change: V212A
| 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
|
| Meta Mutation Damage Score |
0.1765 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
98% (61/62) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
G |
9: 46,215,303 (GRCm39) |
|
probably benign |
Het |
| Abcc9 |
A |
G |
6: 142,571,457 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
G |
A |
11: 50,679,494 (GRCm39) |
G825R |
probably damaging |
Het |
| Adgre1 |
A |
T |
17: 57,750,990 (GRCm39) |
R555W |
probably benign |
Het |
| Apob |
T |
A |
12: 8,038,781 (GRCm39) |
V398D |
probably damaging |
Het |
| Arid4b |
A |
G |
13: 14,334,856 (GRCm39) |
N355S |
probably benign |
Het |
| Asb3 |
G |
T |
11: 30,979,021 (GRCm39) |
D143Y |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,925,419 (GRCm39) |
|
probably benign |
Het |
| Cacna1a |
A |
G |
8: 85,310,360 (GRCm39) |
M1425V |
probably damaging |
Het |
| Capn9 |
A |
G |
8: 125,332,583 (GRCm39) |
E474G |
probably damaging |
Het |
| Capza2 |
T |
C |
6: 17,660,764 (GRCm39) |
S155P |
probably damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,823,622 (GRCm39) |
N202S |
possibly damaging |
Het |
| Ccn1 |
A |
G |
3: 145,354,023 (GRCm39) |
C256R |
probably damaging |
Het |
| Chrm5 |
T |
A |
2: 112,310,445 (GRCm39) |
T224S |
probably benign |
Het |
| Chtop |
C |
T |
3: 90,409,422 (GRCm39) |
|
probably null |
Het |
| Clip1 |
T |
C |
5: 123,753,217 (GRCm39) |
|
probably benign |
Het |
| Dbx2 |
T |
C |
15: 95,552,604 (GRCm39) |
T14A |
possibly damaging |
Het |
| Fam114a1 |
T |
C |
5: 65,166,389 (GRCm39) |
M240T |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,504,246 (GRCm39) |
Y4580H |
probably damaging |
Het |
| Glipr1 |
G |
A |
10: 111,821,698 (GRCm39) |
R200* |
probably null |
Het |
| Gm6408 |
A |
T |
5: 146,419,192 (GRCm39) |
Y69F |
probably benign |
Het |
| Gpt2 |
T |
C |
8: 86,249,885 (GRCm39) |
S456P |
probably benign |
Het |
| Kat8 |
T |
C |
7: 127,519,751 (GRCm39) |
F225S |
probably benign |
Het |
| Lactb2 |
T |
A |
1: 13,730,611 (GRCm39) |
N22Y |
probably damaging |
Het |
| Lin28a |
A |
T |
4: 133,735,284 (GRCm39) |
C67* |
probably null |
Het |
| Mtarc2 |
T |
C |
1: 184,564,786 (GRCm39) |
E155G |
probably benign |
Het |
| Myoz3 |
G |
A |
18: 60,712,543 (GRCm39) |
T104M |
possibly damaging |
Het |
| Nek9 |
C |
T |
12: 85,350,289 (GRCm39) |
M928I |
probably benign |
Het |
| Nlrp9a |
G |
C |
7: 26,270,065 (GRCm39) |
A831P |
probably damaging |
Het |
| Nop53 |
T |
C |
7: 15,679,887 (GRCm39) |
|
probably null |
Het |
| Ofcc1 |
T |
A |
13: 40,241,325 (GRCm39) |
T728S |
probably damaging |
Het |
| Pabpc4l |
T |
A |
3: 46,401,124 (GRCm39) |
|
probably null |
Het |
| Rbm34 |
T |
C |
8: 127,696,880 (GRCm39) |
|
probably null |
Het |
| Relch |
T |
C |
1: 105,631,608 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
C |
T |
16: 74,149,672 (GRCm39) |
C52Y |
probably damaging |
Het |
| Rpgr |
G |
A |
X: 10,032,511 (GRCm39) |
P857L |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,548,066 (GRCm39) |
Y57C |
possibly damaging |
Het |
| Selp |
C |
T |
1: 163,971,460 (GRCm39) |
|
probably benign |
Het |
| Skp2 |
T |
C |
15: 9,139,566 (GRCm39) |
D43G |
possibly damaging |
Het |
| Smad5 |
T |
A |
13: 56,871,617 (GRCm39) |
S71T |
probably damaging |
Het |
| Sorcs1 |
G |
T |
19: 50,171,213 (GRCm39) |
H892N |
probably benign |
Het |
| Sox6 |
C |
T |
7: 115,140,856 (GRCm39) |
|
probably null |
Het |
| St3gal1 |
A |
T |
15: 66,978,522 (GRCm39) |
I333N |
probably damaging |
Het |
| Tex15 |
C |
A |
8: 34,036,364 (GRCm39) |
Q97K |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,917,884 (GRCm39) |
T2266S |
possibly damaging |
Het |
| Tpbgl |
C |
A |
7: 99,274,949 (GRCm39) |
G303C |
probably damaging |
Het |
| Trat1 |
A |
T |
16: 48,555,304 (GRCm39) |
S143T |
possibly damaging |
Het |
| Trpm8 |
T |
A |
1: 88,283,002 (GRCm39) |
V763E |
probably benign |
Het |
| Ttc21a |
G |
A |
9: 119,795,732 (GRCm39) |
D1189N |
probably benign |
Het |
| Usp7 |
T |
C |
16: 8,519,845 (GRCm39) |
N178D |
possibly damaging |
Het |
| Zfp217 |
T |
C |
2: 169,961,064 (GRCm39) |
D421G |
possibly damaging |
Het |
| Zfp382 |
T |
C |
7: 29,833,855 (GRCm39) |
F502S |
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 |
|
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 |
|
|
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'- TATCTTCAGAGACAACAGCCTTACC -3'
(R):5'- GTCAAAGCTGGAGCAAACCC -3'
Sequencing Primer
(F):5'- TGGCAAGCCCTTCCTGC -3'
(R):5'- GATACCTCATTCCAATCACAACTTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation