Incidental Mutation 'R5802:Fbxw11'
ID |
448796 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw11
|
Ensembl Gene |
ENSMUSG00000020271 |
Gene Name |
F-box and WD-40 domain protein 11 |
Synonyms |
2310065A07Rik, BTRC2, Fbxw1b, HOS, BTRCP2 |
MMRRC Submission |
043391-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R5802 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
32592724-32696816 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32661790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 56
(S56T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090893
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076383]
[ENSMUST00000093205]
[ENSMUST00000109366]
|
AlphaFold |
Q5SRY7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076383
AA Change: S77T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000075721 Gene: ENSMUSG00000020271 AA Change: S77T
Domain | Start | End | E-Value | Type |
Beta-TrCP_D
|
98 |
137 |
5.48e-26 |
SMART |
FBOX
|
149 |
188 |
5.08e-6 |
SMART |
WD40
|
250 |
287 |
6.89e-3 |
SMART |
WD40
|
290 |
327 |
3.78e-9 |
SMART |
WD40
|
330 |
367 |
7.73e-6 |
SMART |
WD40
|
373 |
410 |
9.67e-7 |
SMART |
WD40
|
413 |
450 |
3.93e-7 |
SMART |
WD40
|
453 |
490 |
8.42e-7 |
SMART |
WD40
|
502 |
539 |
2.48e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093205
AA Change: S56T
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000090893 Gene: ENSMUSG00000020271 AA Change: S56T
Domain | Start | End | E-Value | Type |
Beta-TrCP_D
|
77 |
116 |
5.48e-26 |
SMART |
FBOX
|
128 |
167 |
5.08e-6 |
SMART |
WD40
|
229 |
266 |
6.89e-3 |
SMART |
WD40
|
269 |
306 |
3.78e-9 |
SMART |
WD40
|
309 |
346 |
7.73e-6 |
SMART |
WD40
|
352 |
389 |
9.67e-7 |
SMART |
WD40
|
392 |
429 |
3.93e-7 |
SMART |
WD40
|
432 |
469 |
8.42e-7 |
SMART |
WD40
|
481 |
518 |
2.48e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109366
AA Change: S43T
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000104991 Gene: ENSMUSG00000020271 AA Change: S43T
Domain | Start | End | E-Value | Type |
Beta-TrCP_D
|
64 |
103 |
5.48e-26 |
SMART |
FBOX
|
115 |
154 |
5.08e-6 |
SMART |
WD40
|
216 |
253 |
6.89e-3 |
SMART |
WD40
|
256 |
293 |
3.78e-9 |
SMART |
WD40
|
296 |
333 |
7.73e-6 |
SMART |
WD40
|
339 |
376 |
9.67e-7 |
SMART |
WD40
|
379 |
416 |
3.93e-7 |
SMART |
WD40
|
419 |
456 |
8.42e-7 |
SMART |
WD40
|
468 |
505 |
2.48e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143290
|
Meta Mutation Damage Score |
0.0755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (63/65) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
T |
1: 12,021,188 (GRCm39) |
D383V |
probably damaging |
Het |
AAdacl4fm3 |
T |
A |
4: 144,430,206 (GRCm39) |
D261V |
probably damaging |
Het |
Abca4 |
A |
T |
3: 121,847,881 (GRCm39) |
L67F |
probably damaging |
Het |
Abcc9 |
C |
A |
6: 142,602,402 (GRCm39) |
|
probably null |
Het |
Atp2a3 |
T |
C |
11: 72,863,708 (GRCm39) |
V175A |
probably damaging |
Het |
B3galt4 |
T |
A |
17: 34,169,731 (GRCm39) |
D169V |
probably damaging |
Het |
Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
Camkk2 |
T |
C |
5: 122,872,307 (GRCm39) |
E90G |
probably damaging |
Het |
Cdon |
T |
A |
9: 35,365,716 (GRCm39) |
I155N |
probably damaging |
Het |
Cep70 |
A |
G |
9: 99,178,458 (GRCm39) |
N519D |
probably damaging |
Het |
Clgn |
T |
C |
8: 84,152,243 (GRCm39) |
S582P |
probably damaging |
Het |
Cnga3 |
T |
C |
1: 37,300,006 (GRCm39) |
F280S |
probably damaging |
Het |
Dennd4c |
C |
T |
4: 86,729,690 (GRCm39) |
T764M |
probably benign |
Het |
Dis3 |
A |
T |
14: 99,337,100 (GRCm39) |
S4T |
probably damaging |
Het |
Dlgap1 |
T |
C |
17: 71,073,086 (GRCm39) |
|
probably null |
Het |
Dnah17 |
C |
T |
11: 117,927,272 (GRCm39) |
V3839I |
possibly damaging |
Het |
Dnajc1 |
A |
G |
2: 18,289,550 (GRCm39) |
Y286H |
probably benign |
Het |
Dynap |
T |
A |
18: 70,374,073 (GRCm39) |
D151V |
unknown |
Het |
Ednrb |
A |
G |
14: 104,059,150 (GRCm39) |
F292S |
probably damaging |
Het |
Eef1a1 |
A |
G |
9: 78,386,318 (GRCm39) |
S396P |
probably damaging |
Het |
Fancg |
A |
G |
4: 43,006,582 (GRCm39) |
F324S |
probably benign |
Het |
Gm17535 |
G |
C |
9: 3,035,758 (GRCm39) |
V209L |
probably benign |
Homo |
Gm5592 |
C |
T |
7: 40,868,529 (GRCm39) |
|
probably benign |
Het |
Gpr137 |
C |
T |
19: 6,919,373 (GRCm39) |
W51* |
probably null |
Het |
H2-T9 |
A |
G |
17: 36,422,179 (GRCm39) |
|
probably benign |
Het |
Hbb-bs |
T |
C |
7: 103,475,879 (GRCm39) |
Y146C |
probably damaging |
Het |
Herc1 |
G |
T |
9: 66,370,160 (GRCm39) |
C2982F |
probably damaging |
Het |
Hnrnpa3 |
T |
A |
2: 75,495,400 (GRCm39) |
N309K |
unknown |
Het |
Hydin |
A |
T |
8: 111,178,692 (GRCm39) |
I1096F |
possibly damaging |
Het |
Klf12 |
A |
G |
14: 100,260,330 (GRCm39) |
V133A |
probably benign |
Het |
Lats2 |
A |
T |
14: 57,931,875 (GRCm39) |
Y848N |
probably damaging |
Het |
Loxl3 |
A |
G |
6: 83,026,270 (GRCm39) |
T453A |
possibly damaging |
Het |
Ltn1 |
T |
G |
16: 87,212,569 (GRCm39) |
H664P |
probably benign |
Het |
Lypd6 |
C |
T |
2: 50,063,613 (GRCm39) |
T40I |
probably benign |
Het |
Nbeal1 |
A |
T |
1: 60,311,380 (GRCm39) |
T1817S |
probably benign |
Het |
Nub1 |
A |
C |
5: 24,907,439 (GRCm39) |
Y350S |
possibly damaging |
Het |
Pbp2 |
A |
G |
6: 135,286,874 (GRCm39) |
Y158H |
possibly damaging |
Het |
Ptpru |
C |
T |
4: 131,515,688 (GRCm39) |
E827K |
possibly damaging |
Het |
Rap1a |
A |
G |
3: 105,653,252 (GRCm39) |
Y32H |
probably damaging |
Het |
Raph1 |
T |
C |
1: 60,527,832 (GRCm39) |
N1143S |
possibly damaging |
Het |
Rbl1 |
T |
C |
2: 157,003,353 (GRCm39) |
T859A |
probably benign |
Het |
Rom1 |
A |
G |
19: 8,906,188 (GRCm39) |
L117P |
probably damaging |
Het |
Senp6 |
T |
C |
9: 80,025,926 (GRCm39) |
|
probably benign |
Het |
Sirpb1c |
T |
C |
3: 15,886,240 (GRCm39) |
M379V |
probably benign |
Het |
Slc6a4 |
C |
T |
11: 76,910,062 (GRCm39) |
T439M |
probably damaging |
Het |
Srsf12 |
G |
T |
4: 33,230,929 (GRCm39) |
R141L |
probably damaging |
Het |
Stk10 |
C |
T |
11: 32,546,748 (GRCm39) |
P335L |
probably benign |
Het |
Tcstv2c |
G |
A |
13: 120,616,449 (GRCm39) |
S96N |
possibly damaging |
Het |
Tecpr1 |
A |
T |
5: 144,143,364 (GRCm39) |
N670K |
probably benign |
Het |
Tgds |
T |
C |
14: 118,370,119 (GRCm39) |
E8G |
probably benign |
Het |
Tmem129 |
A |
G |
5: 33,815,060 (GRCm39) |
S38P |
probably damaging |
Het |
Trappc9 |
T |
C |
15: 72,557,188 (GRCm39) |
E812G |
probably damaging |
Het |
Trmt10b |
T |
A |
4: 45,314,236 (GRCm39) |
|
probably benign |
Het |
Wapl |
A |
G |
14: 34,414,277 (GRCm39) |
T380A |
probably damaging |
Het |
Xylt1 |
A |
T |
7: 117,255,914 (GRCm39) |
T829S |
probably benign |
Het |
Zc3h6 |
C |
T |
2: 128,857,479 (GRCm39) |
P666L |
possibly damaging |
Het |
Zfp1010 |
T |
C |
2: 176,957,049 (GRCm39) |
T150A |
possibly damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
Other mutations in Fbxw11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01475:Fbxw11
|
APN |
11 |
32,672,101 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01828:Fbxw11
|
APN |
11 |
32,670,505 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4651001:Fbxw11
|
UTSW |
11 |
32,661,999 (GRCm39) |
critical splice donor site |
probably null |
|
R0311:Fbxw11
|
UTSW |
11 |
32,672,083 (GRCm39) |
missense |
probably benign |
0.00 |
R0331:Fbxw11
|
UTSW |
11 |
32,661,895 (GRCm39) |
missense |
probably damaging |
0.99 |
R0597:Fbxw11
|
UTSW |
11 |
32,670,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R0989:Fbxw11
|
UTSW |
11 |
32,685,149 (GRCm39) |
missense |
probably benign |
0.17 |
R1175:Fbxw11
|
UTSW |
11 |
32,661,922 (GRCm39) |
missense |
probably damaging |
0.96 |
R1327:Fbxw11
|
UTSW |
11 |
32,661,859 (GRCm39) |
missense |
probably benign |
0.00 |
R1589:Fbxw11
|
UTSW |
11 |
32,683,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R3155:Fbxw11
|
UTSW |
11 |
32,689,244 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4084:Fbxw11
|
UTSW |
11 |
32,689,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4610:Fbxw11
|
UTSW |
11 |
32,661,859 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4677:Fbxw11
|
UTSW |
11 |
32,692,535 (GRCm39) |
nonsense |
probably null |
|
R4694:Fbxw11
|
UTSW |
11 |
32,592,820 (GRCm39) |
unclassified |
probably benign |
|
R4946:Fbxw11
|
UTSW |
11 |
32,689,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R5027:Fbxw11
|
UTSW |
11 |
32,602,811 (GRCm39) |
intron |
probably benign |
|
R5345:Fbxw11
|
UTSW |
11 |
32,688,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R5459:Fbxw11
|
UTSW |
11 |
32,689,191 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5820:Fbxw11
|
UTSW |
11 |
32,685,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R6181:Fbxw11
|
UTSW |
11 |
32,692,575 (GRCm39) |
missense |
probably benign |
|
R6365:Fbxw11
|
UTSW |
11 |
32,670,623 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6948:Fbxw11
|
UTSW |
11 |
32,692,597 (GRCm39) |
missense |
probably damaging |
0.98 |
R7251:Fbxw11
|
UTSW |
11 |
32,681,370 (GRCm39) |
missense |
probably benign |
0.00 |
R7475:Fbxw11
|
UTSW |
11 |
32,661,999 (GRCm39) |
critical splice donor site |
probably null |
|
R7893:Fbxw11
|
UTSW |
11 |
32,670,489 (GRCm39) |
missense |
probably benign |
|
R7970:Fbxw11
|
UTSW |
11 |
32,672,101 (GRCm39) |
missense |
probably benign |
0.00 |
R8121:Fbxw11
|
UTSW |
11 |
32,670,646 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9730:Fbxw11
|
UTSW |
11 |
32,688,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R9741:Fbxw11
|
UTSW |
11 |
32,685,358 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Fbxw11
|
UTSW |
11 |
32,661,859 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Fbxw11
|
UTSW |
11 |
32,688,480 (GRCm39) |
missense |
probably null |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCCTCAATGCATTTTAATTGTG -3'
(R):5'- CCGTGAGAAGTGCAGTTACC -3'
Sequencing Primer
(F):5'- TTGTGTGATAAATGGATGAACAAAAG -3'
(R):5'- TGAGAAGTGCAGTTACCTACCTG -3'
|
Posted On |
2016-12-15 |