Incidental Mutation 'R5706:Dcaf11'
| ID |
451991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf11
|
| Ensembl Gene |
ENSMUSG00000022214 |
| Gene Name |
DDB1 and CUL4 associated factor 11 |
| Synonyms |
0710008A13Rik, GLO14, D14Ucla1, Wdr23 |
| MMRRC Submission |
043331-MU
|
| Accession Numbers |
Genbank: NM_133734; MGI: 90168 |
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5706 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55560006-55570065 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55565695 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 282
(I282T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072530]
[ENSMUST00000117236]
[ENSMUST00000117701]
[ENSMUST00000121622]
[ENSMUST00000128490]
[ENSMUST00000133256]
[ENSMUST00000143375]
[ENSMUST00000143431]
[ENSMUST00000147981]
[ENSMUST00000152681]
[ENSMUST00000150019]
[ENSMUST00000150481]
|
| AlphaFold |
Q91VU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072530
AA Change: I322T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072344
Gene: ENSMUSG00000022214
AA Change: I322T
| 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 damaging
Transcript: ENSMUST00000117236
AA Change: I322T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113014
Gene: ENSMUSG00000022214
AA Change: I322T
| 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 damaging
Transcript: ENSMUST00000117701
AA Change: I282T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113620
Gene: ENSMUSG00000022214
AA Change: I282T
| 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 damaging
Transcript: ENSMUST00000121622
AA Change: I322T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113202
Gene: ENSMUSG00000022214
AA Change: I322T
| 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 damaging
Transcript: ENSMUST00000128490
AA Change: I322T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114211
Gene: ENSMUSG00000022214
AA Change: I322T
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000135068
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000153638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151245
|
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 122,054,261 (GRCm38) |
M77K |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,556,120 (GRCm38) |
V467A |
probably damaging |
Het |
| Atf4 |
T |
C |
15: 80,256,330 (GRCm38) |
V11A |
possibly damaging |
Het |
| B4galt1 |
T |
C |
4: 40,807,268 (GRCm38) |
N373D |
probably damaging |
Het |
| Bpifa3 |
A |
G |
2: 154,135,578 (GRCm38) |
K112R |
probably damaging |
Het |
| Chd2 |
T |
A |
7: 73,491,357 (GRCm38) |
Y596F |
possibly damaging |
Het |
| Clspn |
T |
C |
4: 126,578,418 (GRCm38) |
S962P |
probably damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,734,318 (GRCm38) |
D262G |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,957,395 (GRCm38) |
|
probably null |
Het |
| Dnah11 |
T |
G |
12: 118,023,935 (GRCm38) |
K2411Q |
probably damaging |
Het |
| Elf3 |
A |
G |
1: 135,256,482 (GRCm38) |
V196A |
probably benign |
Het |
| Fhad1 |
T |
G |
4: 141,954,116 (GRCm38) |
T538P |
probably damaging |
Het |
| Fkbp10 |
A |
G |
11: 100,421,023 (GRCm38) |
D174G |
probably damaging |
Het |
| Gas6 |
A |
G |
8: 13,477,098 (GRCm38) |
S217P |
probably damaging |
Het |
| Gm4778 |
T |
A |
3: 94,266,652 (GRCm38) |
H322Q |
possibly damaging |
Het |
| Heatr5b |
C |
T |
17: 78,766,875 (GRCm38) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,115,908 (GRCm38) |
E502G |
probably benign |
Het |
| Klc1 |
T |
C |
12: 111,795,627 (GRCm38) |
V577A |
possibly damaging |
Het |
| Lck |
T |
C |
4: 129,551,638 (GRCm38) |
|
probably null |
Het |
| Mc3r |
C |
A |
2: 172,249,690 (GRCm38) |
Y277* |
probably null |
Het |
| Mlxipl |
T |
C |
5: 135,133,604 (GRCm38) |
V640A |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,332,343 (GRCm38) |
N471Y |
probably damaging |
Het |
| Ncan |
T |
A |
8: 70,102,017 (GRCm38) |
H1050L |
probably damaging |
Het |
| Nrl |
C |
A |
14: 55,522,432 (GRCm38) |
V13F |
probably damaging |
Het |
| Obscn |
T |
A |
11: 59,076,256 (GRCm38) |
Y546F |
probably damaging |
Het |
| Olfr214 |
A |
G |
6: 116,557,113 (GRCm38) |
I229M |
probably damaging |
Het |
| Olfr654 |
T |
G |
7: 104,587,890 (GRCm38) |
S46A |
probably benign |
Het |
| Olfr799 |
A |
G |
10: 129,648,091 (GRCm38) |
|
probably null |
Het |
| Pde3b |
G |
A |
7: 114,521,692 (GRCm38) |
G684D |
probably damaging |
Het |
| Prkaa1 |
C |
T |
15: 5,174,342 (GRCm38) |
T244I |
probably benign |
Het |
| Scfd2 |
A |
T |
5: 74,206,398 (GRCm38) |
|
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,344,393 (GRCm38) |
Q436* |
probably null |
Het |
| Smg1 |
A |
T |
7: 118,145,590 (GRCm38) |
V3113D |
possibly damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,376,881 (GRCm38) |
T153A |
probably benign |
Het |
| Spag16 |
A |
G |
1: 69,870,289 (GRCm38) |
T182A |
probably benign |
Het |
| Svs2 |
T |
C |
2: 164,237,669 (GRCm38) |
K106R |
possibly damaging |
Het |
| Tenm1 |
A |
G |
X: 43,074,695 (GRCm38) |
V107A |
possibly damaging |
Het |
| Topaz1 |
A |
T |
9: 122,799,485 (GRCm38) |
I1546F |
possibly damaging |
Het |
| Tubgcp2 |
C |
A |
7: 140,032,225 (GRCm38) |
E78* |
probably null |
Het |
| Vars |
A |
G |
17: 35,005,481 (GRCm38) |
|
probably null |
Het |
| Vmn2r109 |
A |
T |
17: 20,554,305 (GRCm38) |
W263R |
probably benign |
Het |
|
| Other mutations in Dcaf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00857:Dcaf11
|
APN |
14 |
55,561,285 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL02158:Dcaf11
|
APN |
14 |
55,564,523 (GRCm38) |
splice site |
probably null |
|
|
IGL02487:Dcaf11
|
APN |
14 |
55,569,114 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02887:Dcaf11
|
APN |
14 |
55,564,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03263:Dcaf11
|
APN |
14 |
55,565,492 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03392:Dcaf11
|
APN |
14 |
55,561,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0057:Dcaf11
|
UTSW |
14 |
55,569,310 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0057:Dcaf11
|
UTSW |
14 |
55,569,310 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0084:Dcaf11
|
UTSW |
14 |
55,569,243 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0110:Dcaf11
|
UTSW |
14 |
55,569,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0450:Dcaf11
|
UTSW |
14 |
55,569,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0510:Dcaf11
|
UTSW |
14 |
55,569,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0662:Dcaf11
|
UTSW |
14 |
55,565,507 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1087:Dcaf11
|
UTSW |
14 |
55,569,124 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2281:Dcaf11
|
UTSW |
14 |
55,569,371 (GRCm38) |
makesense |
probably null |
|
|
R2698:Dcaf11
|
UTSW |
14 |
55,566,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2866:Dcaf11
|
UTSW |
14 |
55,565,745 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4472:Dcaf11
|
UTSW |
14 |
55,565,606 (GRCm38) |
intron |
probably benign |
|
|
R5288:Dcaf11
|
UTSW |
14 |
55,563,376 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5682:Dcaf11
|
UTSW |
14 |
55,563,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7133:Dcaf11
|
UTSW |
14 |
55,568,926 (GRCm38) |
splice site |
probably null |
|
|
R7468:Dcaf11
|
UTSW |
14 |
55,565,509 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R7673:Dcaf11
|
UTSW |
14 |
55,569,305 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8755:Dcaf11
|
UTSW |
14 |
55,560,566 (GRCm38) |
start gained |
probably benign |
|
|
R8861:Dcaf11
|
UTSW |
14 |
55,564,498 (GRCm38) |
nonsense |
probably null |
|
|
R8959:Dcaf11
|
UTSW |
14 |
55,569,304 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9038:Dcaf11
|
UTSW |
14 |
55,565,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9672:Dcaf11
|
UTSW |
14 |
55,569,027 (GRCm38) |
nonsense |
probably null |
|
|
R9733:Dcaf11
|
UTSW |
14 |
55,565,713 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCGTACTCTTCAGGTATTG -3'
(R):5'- GACAGCCAGAACCTTGAGAG -3'
Sequencing Primer
(F):5'- GTTTGTGAGACAAGAGCCTTCTCC -3'
(R):5'- ATAAAGGTGATGCCATCCTAGTGCC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation