Incidental Mutation 'R9672:Dcaf11'
ID |
728113 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9672 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
55797463-55807522 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 55806484 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 468
(Y468*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072530]
[ENSMUST00000117236]
[ENSMUST00000117701]
[ENSMUST00000121622]
[ENSMUST00000128490]
[ENSMUST00000143375]
[ENSMUST00000150019]
[ENSMUST00000150481]
[ENSMUST00000152681]
|
AlphaFold |
Q91VU6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000072530
AA Change: Y468*
|
SMART Domains |
Protein: ENSMUSP00000072344 Gene: ENSMUSG00000022214 AA Change: Y468*
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 null
Transcript: ENSMUST00000117236
AA Change: Y468*
|
SMART Domains |
Protein: ENSMUSP00000113014 Gene: ENSMUSG00000022214 AA Change: Y468*
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 null
Transcript: ENSMUST00000117701
AA Change: Y428*
|
SMART Domains |
Protein: ENSMUSP00000113620 Gene: ENSMUSG00000022214 AA Change: Y428*
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 null
Transcript: ENSMUST00000121622
AA Change: Y468*
|
SMART Domains |
Protein: ENSMUSP00000113202 Gene: ENSMUSG00000022214 AA Change: Y468*
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 null
Transcript: ENSMUST00000128490
AA Change: Y468*
|
SMART Domains |
Protein: ENSMUSP00000114211 Gene: ENSMUSG00000022214 AA Change: Y468*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
T |
10: 79,838,563 (GRCm39) |
K612N |
probably null |
Het |
Atrnl1 |
G |
A |
19: 57,618,695 (GRCm39) |
A138T |
possibly damaging |
Het |
Bicc1 |
T |
C |
10: 70,794,666 (GRCm39) |
T164A |
probably damaging |
Het |
Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
Ccdc7a |
A |
G |
8: 129,671,016 (GRCm39) |
S497P |
unknown |
Het |
Cd209d |
C |
G |
8: 3,922,036 (GRCm39) |
G212A |
probably damaging |
Het |
Cog8 |
A |
G |
8: 107,780,658 (GRCm39) |
I200T |
probably damaging |
Het |
Cuzd1 |
T |
A |
7: 130,919,847 (GRCm39) |
I90F |
possibly damaging |
Het |
Cyp4a30b |
T |
A |
4: 115,316,576 (GRCm39) |
C401S |
probably benign |
Het |
Cyp4a31 |
T |
A |
4: 115,427,422 (GRCm39) |
N209K |
probably benign |
Het |
D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
Dennd4a |
A |
G |
9: 64,800,640 (GRCm39) |
D926G |
probably benign |
Het |
Dph7 |
T |
C |
2: 24,855,606 (GRCm39) |
L135P |
probably benign |
Het |
Fcho2 |
A |
T |
13: 98,869,178 (GRCm39) |
C564* |
probably null |
Het |
Gabrb2 |
G |
A |
11: 42,312,207 (GRCm39) |
G11R |
probably benign |
Het |
Gas6 |
A |
G |
8: 13,528,273 (GRCm39) |
S187P |
probably benign |
Het |
Gemin5 |
C |
T |
11: 58,058,585 (GRCm39) |
V93I |
probably benign |
Het |
Gldn |
A |
T |
9: 54,245,780 (GRCm39) |
I444F |
probably damaging |
Het |
Gmps |
T |
C |
3: 63,897,750 (GRCm39) |
V234A |
probably damaging |
Het |
Hand1 |
A |
G |
11: 57,722,516 (GRCm39) |
S33P |
possibly damaging |
Het |
Ice2 |
G |
A |
9: 69,322,899 (GRCm39) |
A465T |
probably benign |
Het |
Irf9 |
T |
C |
14: 55,842,129 (GRCm39) |
S2P |
probably benign |
Het |
Kpna7 |
C |
T |
5: 144,944,776 (GRCm39) |
M21I |
probably benign |
Het |
Lig4 |
A |
G |
8: 10,023,213 (GRCm39) |
M189T |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,779,291 (GRCm39) |
T2698A |
|
Het |
Med10 |
A |
G |
13: 69,963,711 (GRCm39) |
K104R |
probably benign |
Het |
Mfsd14b |
A |
G |
13: 65,260,320 (GRCm39) |
W38R |
probably benign |
Het |
Mrgpra2a |
A |
G |
7: 47,076,490 (GRCm39) |
F256S |
probably benign |
Het |
Myo9a |
A |
G |
9: 59,687,332 (GRCm39) |
K146E |
probably benign |
Het |
Oxgr1 |
T |
A |
14: 120,259,454 (GRCm39) |
Y251F |
probably damaging |
Het |
Pabpc4 |
T |
C |
4: 123,184,133 (GRCm39) |
|
probably null |
Het |
Pde8a |
A |
G |
7: 80,942,014 (GRCm39) |
N151S |
probably damaging |
Het |
Pdilt |
A |
G |
7: 119,100,824 (GRCm39) |
F176L |
possibly damaging |
Het |
Plekhg5 |
C |
A |
4: 152,187,541 (GRCm39) |
D115E |
probably benign |
Het |
Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
Ppp1r9a |
T |
C |
6: 5,007,889 (GRCm39) |
C532R |
unknown |
Het |
Rasa2 |
A |
G |
9: 96,427,781 (GRCm39) |
W695R |
probably damaging |
Het |
Rbpms2 |
A |
G |
9: 65,538,118 (GRCm39) |
N3S |
probably benign |
Het |
Rsph6a |
A |
G |
7: 18,799,842 (GRCm39) |
Y491C |
probably damaging |
Het |
Scel |
T |
A |
14: 103,836,838 (GRCm39) |
N495K |
possibly damaging |
Het |
Setd1a |
T |
C |
7: 127,385,237 (GRCm39) |
L648P |
possibly damaging |
Het |
Snx29 |
A |
T |
16: 11,478,515 (GRCm39) |
R333S |
probably benign |
Het |
Sppl2c |
A |
G |
11: 104,077,344 (GRCm39) |
Y48C |
probably damaging |
Het |
Uba2 |
A |
T |
7: 33,856,749 (GRCm39) |
N230K |
probably benign |
Het |
Utrn |
T |
C |
10: 12,603,613 (GRCm39) |
Q589R |
possibly damaging |
Het |
Vmn1r51 |
T |
A |
6: 90,106,549 (GRCm39) |
L155H |
probably damaging |
Het |
Vmn2r97 |
A |
G |
17: 19,149,442 (GRCm39) |
N277D |
probably benign |
Het |
Wdr97 |
T |
A |
15: 76,240,377 (GRCm39) |
V355E |
|
Het |
Yy1 |
C |
A |
12: 108,759,584 (GRCm39) |
H82Q |
unknown |
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 |
|
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 |
R9733:Dcaf11
|
UTSW |
14 |
55,803,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATACTGTCCACCCAAGATAGG -3'
(R):5'- CACAGACGTAGGTTCCCATC -3'
Sequencing Primer
(F):5'- CCAAGATAGGGACAGGAGTAAGC -3'
(R):5'- GACGTAGGTTCCCATCCCACTG -3'
|
Posted On |
2022-10-06 |