Incidental Mutation 'R6365:Fbxw11'
| ID |
512649 |
| 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 |
044515-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R6365 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
32592724-32696816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 32670623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 162
(D162E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076383]
[ENSMUST00000093205]
[ENSMUST00000109366]
|
| AlphaFold |
Q5SRY7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076383
AA Change: D196E
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271
AA Change: D196E
| 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: D175E
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271
AA Change: D175E
| 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: D162E
PolyPhen 2
Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271
AA Change: D162E
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
| Validation Efficiency |
98% (57/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
T |
5: 113,330,510 (GRCm39) |
R1235S |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,036,481 (GRCm39) |
I543F |
possibly damaging |
Het |
| Acot6 |
A |
G |
12: 84,156,186 (GRCm39) |
E378G |
probably benign |
Het |
| Adam30 |
T |
C |
3: 98,068,350 (GRCm39) |
L61S |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,679,983 (GRCm39) |
L227Q |
probably benign |
Het |
| Ap5m1 |
T |
C |
14: 49,316,285 (GRCm39) |
I285T |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,599,979 (GRCm39) |
Y497H |
probably benign |
Het |
| Bace1 |
C |
T |
9: 45,765,974 (GRCm39) |
Q17* |
probably null |
Het |
| Calcr |
T |
C |
6: 3,711,455 (GRCm39) |
I189V |
probably benign |
Het |
| Cd48 |
A |
T |
1: 171,509,732 (GRCm39) |
Q24L |
probably null |
Het |
| Cnga1 |
T |
C |
5: 72,762,288 (GRCm39) |
I409V |
probably benign |
Het |
| Ctsd |
G |
A |
7: 141,939,314 (GRCm39) |
T37M |
probably benign |
Het |
| Cyp2c29 |
T |
C |
19: 39,296,198 (GRCm39) |
S171P |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,325,983 (GRCm39) |
S197R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Drd2 |
A |
T |
9: 49,318,249 (GRCm39) |
N397I |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,231,008 (GRCm39) |
E3045G |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,751,636 (GRCm39) |
R764S |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,815,412 (GRCm39) |
E3247G |
unknown |
Het |
| Exosc10 |
T |
C |
4: 148,645,562 (GRCm39) |
V114A |
probably benign |
Het |
| Fam234a |
C |
A |
17: 26,439,429 (GRCm39) |
E32* |
probably null |
Het |
| Fcho2 |
A |
T |
13: 98,926,367 (GRCm39) |
M72K |
probably benign |
Het |
| Fech |
T |
C |
18: 64,591,251 (GRCm39) |
N391S |
probably benign |
Het |
| Foxp2 |
T |
C |
6: 15,286,684 (GRCm39) |
L58P |
probably damaging |
Het |
| Gdi2 |
A |
G |
13: 3,615,093 (GRCm39) |
D430G |
possibly damaging |
Het |
| Grm8 |
C |
T |
6: 27,363,226 (GRCm39) |
C763Y |
probably damaging |
Het |
| H2bc6 |
C |
T |
13: 23,769,641 (GRCm39) |
R100H |
probably benign |
Het |
| Hibch |
T |
A |
1: 52,908,096 (GRCm39) |
|
probably null |
Het |
| Ifi44l |
C |
T |
3: 151,467,142 (GRCm39) |
V63I |
unknown |
Het |
| Igf1r |
G |
T |
7: 67,839,798 (GRCm39) |
A702S |
probably benign |
Het |
| Kctd13 |
G |
A |
7: 126,529,862 (GRCm39) |
R101Q |
probably damaging |
Het |
| Klhl33 |
T |
C |
14: 51,129,294 (GRCm39) |
D645G |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,680,961 (GRCm39) |
T74A |
probably benign |
Het |
| Myo1f |
A |
G |
17: 33,805,090 (GRCm39) |
S453G |
probably benign |
Het |
| Naxe |
A |
G |
3: 87,965,298 (GRCm39) |
V105A |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,853,201 (GRCm39) |
Y1140C |
probably damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,288,518 (GRCm39) |
T665A |
probably benign |
Het |
| Or51l4 |
T |
A |
7: 103,404,402 (GRCm39) |
H130L |
probably benign |
Het |
| Otud7b |
T |
G |
3: 96,062,567 (GRCm39) |
I602S |
probably benign |
Het |
| Pakap |
G |
T |
4: 57,709,675 (GRCm39) |
G207* |
probably null |
Het |
| Papolg |
T |
C |
11: 23,832,290 (GRCm39) |
D166G |
probably damaging |
Het |
| Pbx4 |
T |
G |
8: 70,324,857 (GRCm39) |
|
probably null |
Het |
| Pdcd4 |
T |
C |
19: 53,910,564 (GRCm39) |
|
probably null |
Het |
| Pde2a |
C |
T |
7: 101,159,570 (GRCm39) |
T800I |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,620,517 (GRCm39) |
V582E |
probably damaging |
Het |
| Prss40 |
A |
G |
1: 34,591,598 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
G |
T |
9: 37,322,008 (GRCm39) |
R597L |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,413,017 (GRCm39) |
I529F |
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,862,188 (GRCm39) |
F180L |
probably benign |
Het |
| Sowahc |
T |
C |
10: 59,059,349 (GRCm39) |
L495P |
probably damaging |
Het |
| Trf |
A |
G |
9: 103,099,327 (GRCm39) |
V324A |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vip |
C |
T |
10: 5,594,021 (GRCm39) |
R125* |
probably null |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,826 (GRCm39) |
T69S |
probably damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,374 (GRCm39) |
F14L |
probably benign |
Het |
| Vmn1r53 |
T |
C |
6: 90,201,241 (GRCm39) |
N28D |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,607 (GRCm39) |
K345N |
probably benign |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zbtb8os |
A |
T |
4: 129,236,945 (GRCm39) |
N120I |
possibly damaging |
Het |
| Zfp959 |
T |
A |
17: 56,204,785 (GRCm39) |
L274H |
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 |
|
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 |
|
|
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'- AAAAGAAGGGCTGGTCTGTC -3'
(R):5'- AAATCCATGTCAGAAGGGGAAATTC -3'
Sequencing Primer
(F):5'- AAAAGAAGGGCTGGTCTGTCTTCTG -3'
(R):5'- GGGGAAATTCAAACAGCTTTAACC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation