Incidental Mutation 'R4472:Dcaf11'
| ID |
330430 |
| 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 |
041729-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4472 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55797463-55807522 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 55803063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072530]
[ENSMUST00000117236]
[ENSMUST00000117701]
[ENSMUST00000121622]
[ENSMUST00000128490]
[ENSMUST00000152681]
[ENSMUST00000143431]
[ENSMUST00000133256]
[ENSMUST00000147981]
[ENSMUST00000150019]
[ENSMUST00000150481]
[ENSMUST00000143375]
|
| AlphaFold |
Q91VU6 |
| 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 |
noncoding transcript
Transcript: ENSMUST00000127991
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000129310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155029
|
| 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: 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: 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: 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (66/68) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J11Rik |
A |
T |
9: 39,961,994 (GRCm39) |
|
noncoding transcript |
Het |
| Accsl |
T |
A |
2: 93,694,336 (GRCm39) |
|
probably null |
Het |
| Accsl |
G |
T |
2: 93,694,337 (GRCm39) |
|
probably null |
Het |
| Adcy1 |
G |
A |
11: 7,080,369 (GRCm39) |
V371M |
probably damaging |
Het |
| Adgrb2 |
C |
T |
4: 129,902,146 (GRCm39) |
A509V |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,312,525 (GRCm39) |
Q754L |
probably damaging |
Het |
| Agap2 |
T |
C |
10: 126,927,082 (GRCm39) |
I1008T |
probably damaging |
Het |
| Aph1c |
T |
G |
9: 66,735,051 (GRCm39) |
H150P |
probably damaging |
Het |
| Atcay |
T |
C |
10: 81,048,361 (GRCm39) |
R242G |
possibly damaging |
Het |
| Atg2a |
G |
A |
19: 6,308,985 (GRCm39) |
V1724M |
probably damaging |
Het |
| Bbs12 |
T |
C |
3: 37,373,369 (GRCm39) |
V54A |
possibly damaging |
Het |
| Card14 |
A |
G |
11: 119,224,784 (GRCm39) |
M604V |
possibly damaging |
Het |
| Cd28 |
A |
T |
1: 60,802,393 (GRCm39) |
H104L |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 10,048,776 (GRCm39) |
D262E |
probably damaging |
Het |
| Col6a3 |
A |
G |
1: 90,749,736 (GRCm39) |
V366A |
probably benign |
Het |
| Csnk1d |
G |
A |
11: 120,855,800 (GRCm39) |
|
probably benign |
Het |
| Dpy19l4 |
G |
A |
4: 11,304,053 (GRCm39) |
T119M |
possibly damaging |
Het |
| Eif3f |
T |
C |
7: 108,540,153 (GRCm39) |
V316A |
possibly damaging |
Het |
| Fbrsl1 |
G |
A |
5: 110,526,932 (GRCm39) |
|
probably benign |
Het |
| Fbxo10 |
C |
T |
4: 45,043,693 (GRCm39) |
R710H |
probably damaging |
Het |
| Fbxw9 |
G |
A |
8: 85,786,829 (GRCm39) |
D25N |
probably damaging |
Het |
| Gm14295 |
C |
T |
2: 176,501,386 (GRCm39) |
T292I |
possibly damaging |
Het |
| Gm4884 |
C |
G |
7: 40,692,687 (GRCm39) |
Q219E |
probably benign |
Het |
| Gpr150 |
A |
G |
13: 76,204,273 (GRCm39) |
V224A |
probably benign |
Het |
| Hps1 |
A |
T |
19: 42,750,935 (GRCm39) |
I355N |
probably damaging |
Het |
| Lmbr1l |
A |
G |
15: 98,804,178 (GRCm39) |
S374P |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,289,782 (GRCm39) |
N5458K |
probably damaging |
Het |
| Man1b1 |
C |
G |
2: 25,222,867 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,671,645 (GRCm39) |
|
probably null |
Het |
| Mrgpra4 |
T |
C |
7: 47,631,539 (GRCm39) |
T21A |
probably benign |
Het |
| Myo1a |
G |
T |
10: 127,546,327 (GRCm39) |
V277L |
probably benign |
Het |
| Nkain4 |
C |
G |
2: 180,596,415 (GRCm39) |
M1I |
probably null |
Het |
| Nktr |
T |
C |
9: 121,577,962 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,171,515 (GRCm39) |
S276P |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,879,220 (GRCm39) |
D373E |
possibly damaging |
Het |
| Or8g37 |
T |
A |
9: 39,731,870 (GRCm39) |
*312R |
probably null |
Het |
| Oser1 |
T |
A |
2: 163,257,500 (GRCm39) |
E11V |
probably null |
Het |
| Oser1 |
C |
T |
2: 163,257,501 (GRCm39) |
E11K |
probably damaging |
Het |
| Pacsin3 |
A |
G |
2: 91,093,288 (GRCm39) |
|
probably null |
Het |
| Pcdh20 |
T |
C |
14: 88,706,434 (GRCm39) |
S289G |
probably benign |
Het |
| Phlpp1 |
A |
G |
1: 106,314,176 (GRCm39) |
D1183G |
probably damaging |
Het |
| Pign |
T |
C |
1: 105,575,945 (GRCm39) |
K232E |
probably benign |
Het |
| Polk |
A |
G |
13: 96,630,413 (GRCm39) |
S383P |
probably damaging |
Het |
| Prom2 |
C |
A |
2: 127,382,111 (GRCm39) |
R101L |
probably benign |
Het |
| Rest |
T |
C |
5: 77,429,027 (GRCm39) |
V482A |
probably benign |
Het |
| Rexo1 |
A |
T |
10: 80,378,492 (GRCm39) |
S476T |
probably damaging |
Het |
| Rnf31 |
T |
A |
14: 55,840,777 (GRCm39) |
Y1015N |
probably damaging |
Het |
| Spata3 |
T |
C |
1: 85,954,152 (GRCm39) |
Y305H |
probably benign |
Het |
| Sv2a |
G |
A |
3: 96,099,810 (GRCm39) |
V587M |
probably benign |
Het |
| Synj1 |
A |
G |
16: 90,766,069 (GRCm39) |
|
probably null |
Het |
| Syt17 |
A |
G |
7: 118,036,040 (GRCm39) |
|
probably null |
Het |
| Taf2 |
T |
C |
15: 54,922,276 (GRCm39) |
D337G |
possibly damaging |
Het |
| Tcaf1 |
A |
C |
6: 42,656,248 (GRCm39) |
S243A |
probably benign |
Het |
| Tmem9 |
A |
G |
1: 135,955,234 (GRCm39) |
T123A |
probably benign |
Het |
| Trav4-4-dv10 |
T |
C |
14: 53,921,187 (GRCm39) |
|
probably benign |
Het |
| Trbv15 |
G |
A |
6: 41,118,493 (GRCm39) |
R83Q |
probably damaging |
Het |
| Trim27 |
A |
G |
13: 21,374,056 (GRCm39) |
I268V |
probably benign |
Het |
| Tubgcp6 |
T |
A |
15: 88,987,857 (GRCm39) |
S1031C |
probably damaging |
Het |
| Vmn1r89 |
C |
A |
7: 12,953,799 (GRCm39) |
H110Q |
probably benign |
Het |
| Vmn2r30 |
T |
C |
7: 7,320,091 (GRCm39) |
N545S |
probably damaging |
Het |
| Wls |
G |
A |
3: 159,603,020 (GRCm39) |
M144I |
probably benign |
Het |
| Yme1l1 |
T |
C |
2: 23,076,344 (GRCm39) |
|
probably null |
Het |
| Zeb2 |
A |
T |
2: 44,913,023 (GRCm39) |
L56Q |
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 |
|
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'- GCAGGACTCTACTGAGAACAC -3'
(R):5'- TGTCAATAAAGGTGATGCCATCC -3'
Sequencing Primer
(F):5'- CACAGAGCAATAGTCTTGACTCTATG -3'
(R):5'- CAATAAAGGTGATGCCATCCTGGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation