Incidental Mutation 'R8959:Dcaf11'
| ID |
682231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf11
|
| Ensembl Gene |
ENSMUSG00000022214 |
| Gene Name |
DDB1 and CUL4 associated factor 11 |
| Synonyms |
0710008A13Rik, D14Ucla1, Wdr23, GLO14 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8959 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55797463-55807522 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55806761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 488
(N488S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072530]
[ENSMUST00000117236]
[ENSMUST00000117701]
[ENSMUST00000121622]
[ENSMUST00000128490]
[ENSMUST00000143375]
[ENSMUST00000150019]
[ENSMUST00000150481]
[ENSMUST00000152681]
|
| AlphaFold |
Q91VU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072530
AA Change: N528S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000072344
Gene: ENSMUSG00000022214
AA Change: N528S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
WD40
|
162 |
200 |
8.91e-1 |
SMART |
|
WD40
|
205 |
246 |
8.25e0 |
SMART |
|
WD40
|
252 |
293 |
2.39e0 |
SMART |
|
WD40
|
296 |
336 |
1.44e-5 |
SMART |
|
WD40
|
344 |
383 |
1.26e-5 |
SMART |
|
WD40
|
424 |
469 |
1.72e0 |
SMART |
|
WD40
|
472 |
511 |
1.49e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117236
AA Change: N528S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113014
Gene: ENSMUSG00000022214
AA Change: N528S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
WD40
|
162 |
200 |
8.91e-1 |
SMART |
|
WD40
|
205 |
246 |
8.25e0 |
SMART |
|
WD40
|
252 |
293 |
2.39e0 |
SMART |
|
WD40
|
296 |
336 |
1.44e-5 |
SMART |
|
WD40
|
344 |
383 |
1.26e-5 |
SMART |
|
WD40
|
424 |
469 |
1.72e0 |
SMART |
|
WD40
|
472 |
511 |
1.49e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117701
AA Change: N488S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113620
Gene: ENSMUSG00000022214
AA Change: N488S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
WD40
|
122 |
160 |
8.91e-1 |
SMART |
|
WD40
|
165 |
206 |
8.25e0 |
SMART |
|
WD40
|
212 |
253 |
2.39e0 |
SMART |
|
WD40
|
256 |
296 |
1.44e-5 |
SMART |
|
WD40
|
304 |
343 |
1.26e-5 |
SMART |
|
WD40
|
384 |
429 |
1.72e0 |
SMART |
|
WD40
|
432 |
471 |
1.49e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121622
AA Change: N528S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113202
Gene: ENSMUSG00000022214
AA Change: N528S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
WD40
|
162 |
200 |
8.91e-1 |
SMART |
|
WD40
|
205 |
246 |
8.25e0 |
SMART |
|
WD40
|
252 |
293 |
2.39e0 |
SMART |
|
WD40
|
296 |
336 |
1.44e-5 |
SMART |
|
WD40
|
344 |
383 |
1.26e-5 |
SMART |
|
WD40
|
424 |
469 |
1.72e0 |
SMART |
|
WD40
|
472 |
511 |
1.49e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128490
AA Change: N528S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114211
Gene: ENSMUSG00000022214
AA Change: N528S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143375
|
| SMART Domains |
Protein: ENSMUSP00000121570
Gene: ENSMUSG00000022214
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150019
|
| SMART Domains |
Protein: ENSMUSP00000117617
Gene: ENSMUSG00000022214
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150481
|
| SMART Domains |
Protein: ENSMUSP00000119001
Gene: ENSMUSG00000022214
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
WD40
|
162 |
200 |
8.91e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152681
|
| SMART Domains |
Protein: ENSMUSP00000120296
Gene: ENSMUSG00000022214
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (48/48) |
| 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 COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]
|
| Allele List at MGI |
All alleles(2) : Gene trapped(2) |
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
G |
T |
7: 43,906,399 (GRCm39) |
T51K |
possibly damaging |
Het |
| Angel2 |
C |
T |
1: 190,665,332 (GRCm39) |
R88C |
probably damaging |
Het |
| Ankrd13b |
G |
A |
11: 77,367,452 (GRCm39) |
R181C |
probably damaging |
Het |
| Bmal2 |
T |
C |
6: 146,722,142 (GRCm39) |
C238R |
probably benign |
Het |
| Brd3 |
C |
T |
2: 27,354,013 (GRCm39) |
R33Q |
probably damaging |
Het |
| Ccdc106 |
T |
A |
7: 5,060,500 (GRCm39) |
L20Q |
probably benign |
Het |
| Ccdc117 |
A |
T |
11: 5,491,421 (GRCm39) |
V62D |
possibly damaging |
Het |
| Ccnt1 |
T |
C |
15: 98,441,096 (GRCm39) |
|
probably benign |
Het |
| Cfap95 |
T |
C |
19: 23,536,385 (GRCm39) |
E174G |
possibly damaging |
Het |
| Cmip |
G |
A |
8: 118,138,054 (GRCm39) |
V178I |
probably benign |
Het |
| Cnnm3 |
A |
G |
1: 36,558,096 (GRCm39) |
E436G |
probably damaging |
Het |
| Dlg2 |
A |
T |
7: 90,501,927 (GRCm39) |
K80* |
probably null |
Het |
| Dnase1l2 |
T |
A |
17: 24,661,642 (GRCm39) |
D39V |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,078,945 (GRCm39) |
D708G |
probably benign |
Het |
| Enpep |
A |
T |
3: 129,113,090 (GRCm39) |
L278Q |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Flt3 |
T |
G |
5: 147,303,774 (GRCm39) |
Q388P |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,136,936 (GRCm39) |
Y329C |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,282,159 (GRCm39) |
P1924S |
probably damaging |
Het |
| Iba57 |
A |
G |
11: 59,052,461 (GRCm39) |
V122A |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Irak2 |
T |
A |
6: 113,624,702 (GRCm39) |
M66K |
probably damaging |
Het |
| Mkrn2os |
G |
C |
6: 115,562,317 (GRCm39) |
S215R |
probably benign |
Het |
| Mpped1 |
G |
A |
15: 83,676,342 (GRCm39) |
R36Q |
probably damaging |
Het |
| Myh1 |
C |
A |
11: 67,102,328 (GRCm39) |
A873E |
probably benign |
Het |
| Nedd9 |
G |
T |
13: 41,469,758 (GRCm39) |
A465D |
probably damaging |
Het |
| Nr2f1 |
G |
T |
13: 78,337,873 (GRCm39) |
Y257* |
probably null |
Het |
| Omd |
A |
G |
13: 49,745,790 (GRCm39) |
E400G |
possibly damaging |
Het |
| Or5j1 |
T |
A |
2: 86,879,551 (GRCm39) |
T10S |
possibly damaging |
Het |
| Or6c202 |
A |
G |
10: 128,996,484 (GRCm39) |
I123T |
probably damaging |
Het |
| Patj |
T |
C |
4: 98,480,212 (GRCm39) |
S1306P |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,281,599 (GRCm39) |
K228E |
probably damaging |
Het |
| Prl2c5 |
A |
G |
13: 13,365,392 (GRCm39) |
|
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,605,444 (GRCm39) |
E410G |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,419,650 (GRCm39) |
|
probably benign |
Het |
| Runx3 |
C |
T |
4: 134,902,968 (GRCm39) |
S366L |
probably damaging |
Het |
| Ssh3 |
T |
A |
19: 4,318,590 (GRCm39) |
R30S |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Taf6l |
A |
G |
19: 8,750,690 (GRCm39) |
F128S |
possibly damaging |
Het |
| Tmc6 |
A |
C |
11: 117,661,293 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
T |
G |
3: 36,709,258 (GRCm39) |
Q406P |
probably benign |
Het |
| Uncx |
C |
A |
5: 139,529,826 (GRCm39) |
Y26* |
probably null |
Het |
| Urb1 |
T |
C |
16: 90,571,005 (GRCm39) |
D1268G |
probably benign |
Het |
| Wif1 |
T |
C |
10: 120,931,957 (GRCm39) |
C294R |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfp78 |
A |
G |
7: 6,382,380 (GRCm39) |
R477G |
probably damaging |
Het |
|
| Other mutations in Dcaf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00857:Dcaf11
|
APN |
14 |
55,798,742 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02158:Dcaf11
|
APN |
14 |
55,801,980 (GRCm39) |
splice site |
probably null |
|
|
IGL02487:Dcaf11
|
APN |
14 |
55,806,571 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02887:Dcaf11
|
APN |
14 |
55,801,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03263:Dcaf11
|
APN |
14 |
55,802,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03392:Dcaf11
|
APN |
14 |
55,798,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Dcaf11
|
UTSW |
14 |
55,806,767 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0057:Dcaf11
|
UTSW |
14 |
55,806,767 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0084:Dcaf11
|
UTSW |
14 |
55,806,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0110:Dcaf11
|
UTSW |
14 |
55,806,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0450:Dcaf11
|
UTSW |
14 |
55,806,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Dcaf11
|
UTSW |
14 |
55,806,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0662:Dcaf11
|
UTSW |
14 |
55,802,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1087:Dcaf11
|
UTSW |
14 |
55,806,581 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2281:Dcaf11
|
UTSW |
14 |
55,806,828 (GRCm39) |
makesense |
probably null |
|
|
R2698:Dcaf11
|
UTSW |
14 |
55,804,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2866:Dcaf11
|
UTSW |
14 |
55,803,202 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4472:Dcaf11
|
UTSW |
14 |
55,803,063 (GRCm39) |
intron |
probably benign |
|
|
R5288:Dcaf11
|
UTSW |
14 |
55,800,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Dcaf11
|
UTSW |
14 |
55,800,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5706:Dcaf11
|
UTSW |
14 |
55,803,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Dcaf11
|
UTSW |
14 |
55,806,383 (GRCm39) |
splice site |
probably null |
|
|
R7468:Dcaf11
|
UTSW |
14 |
55,802,966 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7673:Dcaf11
|
UTSW |
14 |
55,806,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8755:Dcaf11
|
UTSW |
14 |
55,798,023 (GRCm39) |
start gained |
probably benign |
|
|
R8861:Dcaf11
|
UTSW |
14 |
55,801,955 (GRCm39) |
nonsense |
probably null |
|
|
R9038:Dcaf11
|
UTSW |
14 |
55,803,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9672:Dcaf11
|
UTSW |
14 |
55,806,484 (GRCm39) |
nonsense |
probably null |
|
|
R9733:Dcaf11
|
UTSW |
14 |
55,803,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAGTTGGCATCCCTTTG -3'
(R):5'- AGACCCTGGGTTTCTGTTTC -3'
Sequencing Primer
(F):5'- CAGTTGGCATCCCTTTGAAGAAAAG -3'
(R):5'- GGGTTTCTGTTTCTCACCCAGTG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation