Incidental Mutation 'R8755:Dcaf11'
| ID |
664131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf11
|
| Ensembl Gene |
ENSMUSG00000022214 |
| Gene Name |
DDB1 and CUL4 associated factor 11 |
| Synonyms |
0710008A13Rik, D14Ucla1, Wdr23, GLO14 |
| MMRRC Submission |
068596-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8755 (G1)
|
| Quality Score |
181.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55797463-55807522 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 55798023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066106]
[ENSMUST00000072530]
[ENSMUST00000117236]
[ENSMUST00000117701]
[ENSMUST00000121622]
[ENSMUST00000128490]
[ENSMUST00000133256]
[ENSMUST00000143375]
[ENSMUST00000143431]
[ENSMUST00000147981]
[ENSMUST00000150019]
[ENSMUST00000150481]
[ENSMUST00000152681]
|
| AlphaFold |
Q91VU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072530
|
| SMART Domains |
Protein: ENSMUSP00000072344
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000113014
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000113620
Gene: ENSMUSG00000022214
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113202
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000114211
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: ENSMUST00000133256
|
| SMART Domains |
Protein: ENSMUSP00000118404
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: 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: ENSMUST00000143431
|
| SMART Domains |
Protein: ENSMUSP00000118762
Gene: ENSMUSG00000022214
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147981
|
| SMART Domains |
Protein: ENSMUSP00000123453
Gene: ENSMUSG00000022214
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
C |
15: 102,255,520 (GRCm39) |
D86E |
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,843,130 (GRCm39) |
D583G |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,598,556 (GRCm39) |
D1127E |
probably benign |
Het |
| Anks4b |
T |
A |
7: 119,773,307 (GRCm39) |
|
probably null |
Het |
| Ano8 |
A |
T |
8: 71,935,724 (GRCm39) |
F298Y |
probably benign |
Het |
| Arhgef2 |
C |
A |
3: 88,536,850 (GRCm39) |
Q7K |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,693,890 (GRCm39) |
I1868V |
probably benign |
Het |
| Cand2 |
T |
C |
6: 115,769,941 (GRCm39) |
L917P |
probably damaging |
Het |
| Car8 |
T |
C |
4: 8,238,083 (GRCm39) |
D44G |
probably benign |
Het |
| Cdk1 |
T |
C |
10: 69,176,435 (GRCm39) |
N224S |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,114,064 (GRCm39) |
E336G |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,866,069 (GRCm39) |
M2792T |
probably benign |
Het |
| Cyp4f40 |
A |
T |
17: 32,886,957 (GRCm39) |
K143* |
probably null |
Het |
| Cyth1 |
T |
A |
11: 118,074,768 (GRCm39) |
M178L |
probably benign |
Het |
| Dlec1 |
T |
G |
9: 118,967,225 (GRCm39) |
W1203G |
probably damaging |
Het |
| Fgd4 |
A |
T |
16: 16,302,133 (GRCm39) |
S141T |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,786,895 (GRCm39) |
S725P |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,108,120 (GRCm39) |
D49E |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,861,086 (GRCm39) |
D647E |
unknown |
Het |
| Gstp1 |
T |
C |
19: 4,086,698 (GRCm39) |
Y109C |
probably damaging |
Het |
| Gtf3c3 |
T |
C |
1: 54,468,031 (GRCm39) |
E202G |
probably benign |
Het |
| Hephl1 |
A |
G |
9: 14,985,563 (GRCm39) |
F698L |
probably benign |
Het |
| Hephl1 |
G |
T |
9: 15,023,280 (GRCm39) |
P41T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,509,371 (GRCm39) |
E3659V |
probably benign |
Het |
| Il27ra |
A |
T |
8: 84,765,988 (GRCm39) |
D229E |
probably damaging |
Het |
| Itih2 |
T |
A |
2: 10,103,369 (GRCm39) |
D706V |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,133,926 (GRCm39) |
C1893S |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
| Laptm4b |
A |
G |
15: 34,273,420 (GRCm39) |
D111G |
probably damaging |
Het |
| Ldb3 |
T |
A |
14: 34,299,256 (GRCm39) |
S123C |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,345 (GRCm39) |
E121K |
possibly damaging |
Het |
| Mmp13 |
T |
A |
9: 7,277,996 (GRCm39) |
S296R |
possibly damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,439,238 (GRCm39) |
F232S |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,148,817 (GRCm39) |
C990S |
possibly damaging |
Het |
| Nckap5 |
A |
T |
1: 125,954,279 (GRCm39) |
C758S |
possibly damaging |
Het |
| Nwd1 |
A |
T |
8: 73,394,192 (GRCm39) |
D485V |
probably damaging |
Het |
| Or13a21 |
T |
G |
7: 139,999,417 (GRCm39) |
S90R |
probably benign |
Het |
| Or6c2 |
T |
C |
10: 129,362,332 (GRCm39) |
F79L |
possibly damaging |
Het |
| Or8g50 |
T |
A |
9: 39,648,786 (GRCm39) |
I225N |
probably damaging |
Het |
| Pcgf3 |
G |
A |
5: 108,634,108 (GRCm39) |
R122Q |
probably benign |
Het |
| Pgm5 |
T |
A |
19: 24,812,212 (GRCm39) |
I107F |
probably damaging |
Het |
| Pid1 |
G |
T |
1: 84,016,066 (GRCm39) |
H114N |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,703,807 (GRCm39) |
T710A |
probably benign |
Het |
| Plpbp |
T |
A |
8: 27,535,165 (GRCm39) |
|
probably null |
Het |
| Ppfibp2 |
T |
G |
7: 107,343,432 (GRCm39) |
F824V |
probably damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| Psg17 |
T |
A |
7: 18,550,836 (GRCm39) |
T340S |
possibly damaging |
Het |
| Pstpip2 |
T |
C |
18: 77,961,133 (GRCm39) |
S239P |
probably damaging |
Het |
| Ralbp1 |
A |
C |
17: 66,166,036 (GRCm39) |
S383A |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,300,969 (GRCm39) |
L613* |
probably null |
Het |
| Rgs11 |
T |
C |
17: 26,422,346 (GRCm39) |
V49A |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,791,693 (GRCm39) |
V1404I |
probably benign |
Het |
| Secisbp2 |
G |
A |
13: 51,833,869 (GRCm39) |
V670I |
possibly damaging |
Het |
| Slc22a13 |
T |
A |
9: 119,038,126 (GRCm39) |
M1L |
probably damaging |
Het |
| Slc5a1 |
A |
T |
5: 33,316,526 (GRCm39) |
I591L |
probably benign |
Het |
| Tacr2 |
T |
A |
10: 62,088,733 (GRCm39) |
V46E |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,194,039 (GRCm39) |
G132S |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,408,851 (GRCm39) |
R724* |
probably null |
Het |
| Tmco3 |
A |
T |
8: 13,341,782 (GRCm39) |
I19L |
probably benign |
Het |
| Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
| Tpm1 |
A |
T |
9: 66,935,371 (GRCm39) |
L248Q |
probably benign |
Het |
| Tprn |
T |
A |
2: 25,154,027 (GRCm39) |
I443N |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,651,290 (GRCm39) |
H1545L |
possibly damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,104 (GRCm39) |
M786K |
probably damaging |
Het |
| Wipi1 |
C |
T |
11: 109,494,645 (GRCm39) |
V63M |
probably damaging |
Het |
| Zcchc4 |
G |
A |
5: 52,976,724 (GRCm39) |
R506H |
unknown |
Het |
| Zfand6 |
A |
T |
7: 84,281,899 (GRCm39) |
V110E |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,219,381 (GRCm39) |
Y80N |
possibly 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 |
|
R8861:Dcaf11
|
UTSW |
14 |
55,801,955 (GRCm39) |
nonsense |
probably null |
|
|
R8959:Dcaf11
|
UTSW |
14 |
55,806,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CGCTACGTCTAATGCAGGTC -3'
(R):5'- CAGTTTAGCTTCACGCCCAC -3'
Sequencing Primer
(F):5'- AGGTCGCAGCCAATTCCAGTC -3'
(R):5'- AAATGGAGAAGCACCTCC -3'
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| Posted On |
2021-03-08 |
Incidental Mutation