Incidental Mutation 'R0084:Dcaf11'
| ID |
19826 |
| 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 |
038371-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0084 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55797463-55807522 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55806700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 468
(R468C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072530]
[ENSMUST00000117236]
[ENSMUST00000117701]
[ENSMUST00000121622]
[ENSMUST00000128490]
[ENSMUST00000150481]
[ENSMUST00000143375]
[ENSMUST00000152681]
[ENSMUST00000150019]
|
| AlphaFold |
Q91VU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072530
AA Change: R508C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072344
Gene: ENSMUSG00000022214
AA Change: R508C
| 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: R508C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113014
Gene: ENSMUSG00000022214
AA Change: R508C
| 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: R468C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113620
Gene: ENSMUSG00000022214
AA Change: R468C
| 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: R508C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113202
Gene: ENSMUSG00000022214
AA Change: R508C
| 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: R508C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114211
Gene: ENSMUSG00000022214
AA Change: R508C
| 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: ENSMUST00000145983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153638
|
| 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 |
|
| 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: ENSMUST00000150019
|
| SMART Domains |
Protein: ENSMUSP00000117617
Gene: ENSMUSG00000022214
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1127 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.0%
- 10x: 94.5%
- 20x: 86.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,927,423 (GRCm39) |
|
probably benign |
Het |
| Abcc9 |
A |
G |
6: 142,604,277 (GRCm39) |
Y653H |
probably damaging |
Het |
| Acp3 |
A |
T |
9: 104,191,564 (GRCm39) |
S241T |
probably benign |
Het |
| Acvr1 |
A |
G |
2: 58,348,895 (GRCm39) |
|
probably null |
Het |
| Adgb |
T |
C |
10: 10,272,088 (GRCm39) |
N832S |
possibly damaging |
Het |
| AI182371 |
A |
G |
2: 34,975,714 (GRCm39) |
|
probably null |
Het |
| Anapc1 |
G |
A |
2: 128,465,886 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
T |
C |
19: 23,889,861 (GRCm39) |
S420P |
possibly damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Bpifb2 |
A |
T |
2: 153,733,011 (GRCm39) |
M365L |
probably benign |
Het |
| Btnl9 |
A |
T |
11: 49,069,606 (GRCm39) |
N224K |
possibly damaging |
Het |
| Cntn1 |
A |
T |
15: 92,215,798 (GRCm39) |
I944L |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,296,265 (GRCm39) |
|
probably benign |
Het |
| E4f1 |
T |
C |
17: 24,663,056 (GRCm39) |
T750A |
possibly damaging |
Het |
| Ercc5 |
A |
G |
1: 44,215,136 (GRCm39) |
K890E |
possibly damaging |
Het |
| Fbrsl1 |
A |
G |
5: 110,527,381 (GRCm39) |
L262P |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,935,979 (GRCm38) |
D2273G |
probably benign |
Het |
| Gm9848 |
A |
T |
13: 113,244,776 (GRCm39) |
|
noncoding transcript |
Het |
| Hcrtr1 |
T |
A |
4: 130,031,059 (GRCm39) |
H75L |
possibly damaging |
Het |
| Heatr9 |
A |
T |
11: 83,403,721 (GRCm39) |
|
probably benign |
Het |
| Htatip2 |
G |
A |
7: 49,409,420 (GRCm39) |
G58D |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,445,918 (GRCm39) |
Y210* |
probably null |
Het |
| Lmntd1 |
G |
A |
6: 145,350,254 (GRCm39) |
H234Y |
unknown |
Het |
| Ly6g2 |
T |
A |
15: 75,089,624 (GRCm39) |
M44K |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,963,343 (GRCm39) |
K85E |
possibly damaging |
Het |
| Moxd2 |
T |
C |
6: 40,856,342 (GRCm39) |
D510G |
probably null |
Het |
| Mpv17l2 |
A |
T |
8: 71,217,190 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,472,778 (GRCm39) |
|
probably null |
Het |
| Ncapd3 |
A |
G |
9: 26,967,407 (GRCm39) |
D581G |
probably damaging |
Het |
| Ndufb5 |
T |
C |
3: 32,791,352 (GRCm39) |
V33A |
probably benign |
Het |
| Or10a49 |
A |
T |
7: 108,468,007 (GRCm39) |
M118K |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,890,669 (GRCm39) |
T524A |
probably benign |
Het |
| Otogl |
A |
C |
10: 107,737,202 (GRCm39) |
S71A |
probably damaging |
Het |
| Ovol2 |
G |
T |
2: 144,147,808 (GRCm39) |
N180K |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,823,774 (GRCm39) |
V219A |
probably benign |
Het |
| Paox |
C |
T |
7: 139,712,359 (GRCm39) |
R197* |
probably null |
Het |
| Pax2 |
T |
A |
19: 44,806,874 (GRCm39) |
Y290N |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,516,937 (GRCm39) |
M933T |
possibly damaging |
Het |
| Ppfia4 |
G |
T |
1: 134,227,164 (GRCm39) |
R1124S |
possibly damaging |
Het |
| Prkch |
T |
C |
12: 73,744,761 (GRCm39) |
F258S |
possibly damaging |
Het |
| Rhob |
G |
A |
12: 8,549,107 (GRCm39) |
R176C |
probably benign |
Het |
| Sbf2 |
A |
T |
7: 110,041,573 (GRCm39) |
I326N |
possibly damaging |
Het |
| Scgb2b2 |
A |
T |
7: 31,003,041 (GRCm39) |
E45D |
probably benign |
Het |
| Scube3 |
T |
A |
17: 28,381,935 (GRCm39) |
D320E |
probably benign |
Het |
| Serpina1f |
A |
G |
12: 103,659,847 (GRCm39) |
V145A |
possibly damaging |
Het |
| Slc28a2b |
A |
G |
2: 122,353,314 (GRCm39) |
Y498C |
possibly damaging |
Het |
| Slc6a5 |
A |
C |
7: 49,579,761 (GRCm39) |
I380L |
probably benign |
Het |
| Spag16 |
A |
G |
1: 70,035,998 (GRCm39) |
N342S |
probably benign |
Het |
| Spata16 |
A |
G |
3: 26,721,559 (GRCm39) |
T27A |
possibly damaging |
Het |
| Spock3 |
A |
C |
8: 63,596,963 (GRCm39) |
K89T |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,481,797 (GRCm39) |
V795A |
probably damaging |
Het |
| Tirap |
G |
T |
9: 35,100,458 (GRCm39) |
H75Q |
probably benign |
Het |
| Tpk1 |
C |
A |
6: 43,323,763 (GRCm39) |
V229L |
possibly damaging |
Het |
| Tshz2 |
A |
G |
2: 169,726,286 (GRCm39) |
H294R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,703,043 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
C |
T |
11: 115,954,657 (GRCm39) |
V984M |
probably damaging |
Het |
| Zbtb43 |
A |
T |
2: 33,343,996 (GRCm39) |
Y373N |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,480,476 (GRCm39) |
H884Q |
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 |
|
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 |
|
|
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'- CACAGTATATGACCTCTTGAGCGGC -3'
(R):5'- TTCTCACCCAGTGTGAGCAGTTCC -3'
Sequencing Primer
(F):5'- GCCACATTGTTAAGAAGCTGAC -3'
(R):5'- AGTGTGAGCAGTTCCTCCAC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation