Incidental Mutation 'R5459:Fbxw11'
| ID |
432937 |
| 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 |
043022-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R5459 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
32592724-32696816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32689191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 438
(V438A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090893
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076383]
[ENSMUST00000093205]
[ENSMUST00000109366]
|
| AlphaFold |
Q5SRY7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076383
AA Change: V459A
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271
AA Change: V459A
| 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 |
possibly damaging
Transcript: ENSMUST00000093205
AA Change: V438A
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271
AA Change: V438A
| 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 |
possibly damaging
Transcript: ENSMUST00000109366
AA Change: V425A
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271
AA Change: V425A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
A |
G |
17: 35,879,079 (GRCm39) |
E139G |
possibly damaging |
Het |
| Abcc6 |
T |
C |
7: 45,631,607 (GRCm39) |
N1223S |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,839,332 (GRCm39) |
|
probably null |
Het |
| Aloxe3 |
T |
A |
11: 69,023,654 (GRCm39) |
F259Y |
possibly damaging |
Het |
| Armc9 |
G |
A |
1: 86,135,694 (GRCm39) |
R550Q |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,887,334 (GRCm39) |
D787G |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,148,472 (GRCm39) |
I283V |
probably null |
Het |
| Ebf2 |
A |
G |
14: 67,472,650 (GRCm39) |
M23V |
probably benign |
Het |
| Fcrla |
G |
A |
1: 170,745,738 (GRCm39) |
T348M |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,227,483 (GRCm39) |
H1557Q |
probably benign |
Het |
| Gpr87 |
A |
G |
3: 59,087,148 (GRCm39) |
V119A |
possibly damaging |
Het |
| Grep1 |
C |
T |
17: 23,930,817 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,052,629 (GRCm39) |
S285P |
probably damaging |
Het |
| Hs3st5 |
T |
C |
10: 36,704,742 (GRCm39) |
V15A |
possibly damaging |
Het |
| Hyal5 |
C |
T |
6: 24,891,250 (GRCm39) |
H355Y |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Map4k3 |
T |
A |
17: 80,917,216 (GRCm39) |
N587Y |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,332,316 (GRCm39) |
L1211* |
probably null |
Het |
| Mcmdc2 |
A |
G |
1: 10,007,309 (GRCm39) |
I620V |
probably benign |
Het |
| Mical2 |
C |
T |
7: 111,981,444 (GRCm39) |
H539Y |
probably benign |
Het |
| Myo9a |
T |
C |
9: 59,791,803 (GRCm39) |
L1802P |
probably damaging |
Het |
| Neto2 |
T |
A |
8: 86,397,112 (GRCm39) |
I47F |
probably benign |
Het |
| Oog3 |
G |
A |
4: 143,885,815 (GRCm39) |
T261I |
probably benign |
Het |
| Or5b95 |
A |
G |
19: 12,657,799 (GRCm39) |
E109G |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,086,158 (GRCm39) |
L519P |
probably benign |
Het |
| Pnpla6 |
A |
T |
8: 3,585,829 (GRCm39) |
M844L |
probably benign |
Het |
| Polk |
C |
T |
13: 96,631,984 (GRCm39) |
G250R |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 156,985,231 (GRCm39) |
S839P |
probably damaging |
Het |
| Siae |
T |
C |
9: 37,528,119 (GRCm39) |
Y31H |
probably damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,422,912 (GRCm39) |
V379A |
probably damaging |
Het |
| Snx9 |
C |
T |
17: 5,970,913 (GRCm39) |
T418M |
probably damaging |
Het |
| Spata31e2 |
A |
C |
1: 26,724,272 (GRCm39) |
S303A |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,185 (GRCm39) |
T258A |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,576,921 (GRCm39) |
D1058E |
probably damaging |
Het |
| Tecpr1 |
T |
A |
5: 144,144,234 (GRCm39) |
Y656F |
probably damaging |
Het |
| Tnik |
T |
A |
3: 28,715,890 (GRCm39) |
I1168K |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,014,510 (GRCm39) |
E587G |
probably damaging |
Het |
| Tyw1 |
A |
C |
5: 130,303,547 (GRCm39) |
D305A |
probably damaging |
Het |
| Vmn1r19 |
T |
A |
6: 57,381,475 (GRCm39) |
Y9* |
probably null |
Het |
| Zkscan3 |
A |
T |
13: 21,578,982 (GRCm39) |
V142E |
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 |
|
R5802:Fbxw11
|
UTSW |
11 |
32,661,790 (GRCm39) |
missense |
probably benign |
0.18 |
|
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'- CCTGCCTAAATTAGTGTGAAAGCAC -3'
(R):5'- TGACCCACTGCTATGACAGATC -3'
Sequencing Primer
(F):5'- AAGCACAAGTGTTAGATTTAGTGG -3'
(R):5'- GACAGATCTTTCTCATAGAGTTCTGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation