Incidental Mutation 'R0662:Dcaf11'
| ID |
61923 |
| 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 |
038847-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0662 (G1)
|
| Quality Score |
133 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55797463-55807522 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55802964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 251
(V251A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072530]
[ENSMUST00000117236]
[ENSMUST00000117701]
[ENSMUST00000121622]
[ENSMUST00000128490]
[ENSMUST00000152681]
[ENSMUST00000143431]
[ENSMUST00000150019]
[ENSMUST00000133256]
[ENSMUST00000147981]
[ENSMUST00000150481]
[ENSMUST00000143375]
|
| AlphaFold |
Q91VU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072530
AA Change: V291A
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072344
Gene: ENSMUSG00000022214
AA Change: V291A
| 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: V291A
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113014
Gene: ENSMUSG00000022214
AA Change: V291A
| 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 |
possibly damaging
Transcript: ENSMUST00000117701
AA Change: V251A
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113620
Gene: ENSMUSG00000022214
AA Change: V251A
| 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: V291A
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113202
Gene: ENSMUSG00000022214
AA Change: V291A
| 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 |
noncoding transcript
Transcript: ENSMUST00000127991
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128490
AA Change: V291A
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114211
Gene: ENSMUSG00000022214
AA Change: V291A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145983
|
| 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 |
|
| 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: 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: 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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.5%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,898,338 (GRCm39) |
S241P |
probably benign |
Het |
| Ankrd53 |
G |
T |
6: 83,740,625 (GRCm39) |
V83L |
probably damaging |
Het |
| Armcx2 |
G |
A |
X: 133,706,385 (GRCm39) |
T416I |
possibly damaging |
Het |
| C4b |
G |
A |
17: 34,949,862 (GRCm39) |
R1441C |
probably damaging |
Het |
| Cacng3 |
T |
C |
7: 122,367,582 (GRCm39) |
I154T |
probably damaging |
Het |
| Cand2 |
A |
G |
6: 115,764,171 (GRCm39) |
D315G |
probably benign |
Het |
| Celsr2 |
A |
T |
3: 108,305,836 (GRCm39) |
S2089R |
probably damaging |
Het |
| Chd9 |
A |
C |
8: 91,704,304 (GRCm39) |
K247Q |
probably damaging |
Het |
| Chi3l1 |
A |
C |
1: 134,116,311 (GRCm39) |
S263R |
probably damaging |
Het |
| Clec12b |
A |
C |
6: 129,353,200 (GRCm39) |
C262W |
probably damaging |
Het |
| Cpsf7 |
T |
C |
19: 10,503,372 (GRCm39) |
M1T |
probably null |
Het |
| Cul3 |
T |
C |
1: 80,249,282 (GRCm39) |
D597G |
probably damaging |
Het |
| Dennd2b |
G |
T |
7: 109,156,633 (GRCm39) |
P39Q |
probably damaging |
Het |
| Eno2 |
A |
T |
6: 124,740,774 (GRCm39) |
F218I |
probably damaging |
Het |
| Frmd6 |
A |
T |
12: 70,946,218 (GRCm39) |
R549* |
probably null |
Het |
| Fyb2 |
G |
A |
4: 104,852,895 (GRCm39) |
S461N |
possibly damaging |
Het |
| Gm5709 |
A |
T |
3: 59,514,164 (GRCm39) |
|
noncoding transcript |
Het |
| Hormad1 |
T |
C |
3: 95,482,910 (GRCm39) |
I132T |
probably benign |
Het |
| Itga7 |
G |
T |
10: 128,789,400 (GRCm39) |
R981L |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,065,306 (GRCm39) |
N153K |
probably damaging |
Het |
| Itih1 |
T |
C |
14: 30,655,317 (GRCm39) |
E626G |
possibly damaging |
Het |
| Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
| Kcna2 |
A |
T |
3: 107,012,717 (GRCm39) |
T433S |
probably benign |
Het |
| Map4k5 |
A |
G |
12: 69,859,927 (GRCm39) |
V673A |
probably damaging |
Het |
| Mmp27 |
T |
A |
9: 7,577,651 (GRCm39) |
V281E |
probably benign |
Het |
| Nr2c1 |
A |
T |
10: 94,026,600 (GRCm39) |
I492F |
probably damaging |
Het |
| Or14c39 |
A |
G |
7: 86,343,838 (GRCm39) |
Y58C |
possibly damaging |
Het |
| Or2ag19 |
A |
T |
7: 106,443,856 (GRCm39) |
I13F |
probably benign |
Het |
| Or2r3 |
C |
T |
6: 42,448,708 (GRCm39) |
V135M |
possibly damaging |
Het |
| Or2y3 |
A |
G |
17: 38,393,824 (GRCm39) |
I15T |
probably benign |
Het |
| Or7d10 |
G |
C |
9: 19,831,796 (GRCm39) |
C97S |
probably damaging |
Het |
| Or7e170 |
T |
C |
9: 19,795,248 (GRCm39) |
M118V |
probably benign |
Het |
| Or8b47 |
T |
A |
9: 38,435,322 (GRCm39) |
M98K |
probably damaging |
Het |
| Pank3 |
T |
C |
11: 35,669,477 (GRCm39) |
M237T |
probably damaging |
Het |
| Plekhh1 |
A |
G |
12: 79,125,767 (GRCm39) |
T1268A |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,813,467 (GRCm39) |
Y456C |
probably damaging |
Het |
| Rhcg |
C |
T |
7: 79,249,477 (GRCm39) |
V310M |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,799,614 (GRCm39) |
D906E |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,621,288 (GRCm39) |
L262Q |
probably damaging |
Het |
| Shprh |
G |
A |
10: 11,062,591 (GRCm39) |
V1233I |
probably damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,344,635 (GRCm39) |
E267G |
possibly damaging |
Het |
| Slc5a5 |
T |
A |
8: 71,336,519 (GRCm39) |
T616S |
probably benign |
Het |
| Syne3 |
T |
G |
12: 104,927,769 (GRCm39) |
E318A |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,862,662 (GRCm39) |
T25A |
probably benign |
Het |
| Ubxn1 |
T |
A |
19: 8,852,561 (GRCm39) |
|
probably null |
Het |
| Unc5b |
C |
A |
10: 60,608,362 (GRCm39) |
R616L |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,083,290 (GRCm39) |
T278A |
probably benign |
Het |
| Utp14b |
A |
G |
1: 78,642,716 (GRCm39) |
T205A |
probably damaging |
Het |
| Vmn1r219 |
T |
C |
13: 23,347,623 (GRCm39) |
S271P |
possibly damaging |
Het |
| Vmn2r76 |
C |
T |
7: 85,879,578 (GRCm39) |
V241M |
probably benign |
Het |
| Zbtb24 |
G |
A |
10: 41,338,275 (GRCm39) |
G429D |
probably damaging |
Het |
| Zdhhc2 |
T |
C |
8: 40,900,139 (GRCm39) |
S68P |
probably damaging |
Het |
| Zfp719 |
G |
A |
7: 43,233,678 (GRCm39) |
M32I |
possibly damaging |
Het |
| Zfp975 |
T |
C |
7: 42,311,950 (GRCm39) |
N221S |
probably benign |
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 |
|
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 |
|
|
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'- TGAAAGCTAAGCTGCTGCCTTCC -3'
(R):5'- AAAGGTGATGCCATCCTAGTGCCC -3'
Sequencing Primer
(F):5'- AGCTCACCCCTTAGTTGAGT -3'
(R):5'- GTCAATAAAGGTGATGCCATCCTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation