Incidental Mutation 'R9741:Fbxw11'
ID |
731842 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R9741 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
32592724-32696816 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 32685358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 398
(V398L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076383]
[ENSMUST00000093205]
[ENSMUST00000109366]
|
AlphaFold |
Q5SRY7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076383
AA Change: V398L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075721 Gene: ENSMUSG00000020271 AA Change: V398L
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: V377L
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000090893 Gene: ENSMUSG00000020271 AA Change: V377L
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 damaging
Transcript: ENSMUST00000109366
AA Change: V364L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000104991 Gene: ENSMUSG00000020271 AA Change: V364L
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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 99.0%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd6 |
T |
A |
4: 32,860,339 (GRCm39) |
K35* |
probably null |
Het |
Apoc3 |
G |
T |
9: 46,145,998 (GRCm39) |
T5K |
unknown |
Het |
Arhgap20 |
T |
A |
9: 51,760,730 (GRCm39) |
Y860* |
probably null |
Het |
Arhgef11 |
T |
C |
3: 87,595,156 (GRCm39) |
S123P |
probably benign |
Het |
Armh4 |
A |
G |
14: 50,008,081 (GRCm39) |
I464T |
probably benign |
Het |
Axdnd1 |
T |
A |
1: 156,169,385 (GRCm39) |
Y827F |
probably benign |
Het |
Bbs5 |
A |
G |
2: 69,484,695 (GRCm39) |
T122A |
probably benign |
Het |
Btbd6 |
T |
A |
12: 112,940,923 (GRCm39) |
D173E |
probably benign |
Het |
Cblb |
T |
C |
16: 51,932,490 (GRCm39) |
I149T |
probably damaging |
Het |
Cyp2ab1 |
G |
A |
16: 20,132,953 (GRCm39) |
R214C |
probably damaging |
Het |
Dbn1 |
C |
T |
13: 55,624,114 (GRCm39) |
S372N |
possibly damaging |
Het |
Dlg1 |
T |
A |
16: 31,676,735 (GRCm39) |
Y776* |
probably null |
Het |
Dock9 |
A |
T |
14: 121,877,516 (GRCm39) |
I409N |
probably damaging |
Het |
Ect2 |
A |
T |
3: 27,156,607 (GRCm39) |
N815K |
probably benign |
Het |
Gcsam |
T |
C |
16: 45,436,319 (GRCm39) |
F34S |
possibly damaging |
Het |
Ghsr |
G |
A |
3: 27,428,898 (GRCm39) |
V308I |
possibly damaging |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
H1f10 |
A |
G |
6: 87,958,200 (GRCm39) |
Y47H |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,239,962 (GRCm39) |
F510S |
probably damaging |
Het |
Htr1a |
T |
C |
13: 105,581,861 (GRCm39) |
V367A |
possibly damaging |
Het |
Iars1 |
T |
G |
13: 49,844,978 (GRCm39) |
F163C |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,895,383 (GRCm39) |
T1728A |
probably benign |
Het |
Ighv7-3 |
C |
T |
12: 114,116,995 (GRCm39) |
V56I |
probably benign |
Het |
Lrp1b |
A |
T |
2: 41,002,300 (GRCm39) |
I2133N |
|
Het |
Lrrc37 |
T |
C |
11: 103,504,255 (GRCm39) |
E2571G |
possibly damaging |
Het |
Or2d2 |
A |
G |
7: 106,728,366 (GRCm39) |
V78A |
possibly damaging |
Het |
Or52z1 |
G |
T |
7: 103,436,941 (GRCm39) |
P181H |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,897,224 (GRCm39) |
T562A |
|
Het |
Ppp1r10 |
G |
A |
17: 36,237,331 (GRCm39) |
R167Q |
possibly damaging |
Het |
Ppp1r13l |
C |
T |
7: 19,103,725 (GRCm39) |
R69W |
probably damaging |
Het |
Proser2 |
G |
A |
2: 6,105,580 (GRCm39) |
A328V |
probably benign |
Het |
Rhou |
A |
G |
8: 124,380,914 (GRCm39) |
Y77C |
possibly damaging |
Het |
Rprml |
T |
A |
11: 103,540,857 (GRCm39) |
L84Q |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,477,271 (GRCm39) |
C4515Y |
probably benign |
Het |
Slc9a3 |
T |
A |
13: 74,306,994 (GRCm39) |
I373N |
possibly damaging |
Het |
Snx21 |
C |
T |
2: 164,634,231 (GRCm39) |
A339V |
probably benign |
Het |
Srpk1 |
G |
A |
17: 28,818,652 (GRCm39) |
P395S |
probably benign |
Het |
Syt14 |
A |
T |
1: 192,666,449 (GRCm39) |
S152T |
unknown |
Het |
Urb2 |
G |
T |
8: 124,755,751 (GRCm39) |
R486L |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,702,564 (GRCm39) |
M7L |
probably benign |
Het |
Vmn2r59 |
T |
A |
7: 41,708,209 (GRCm39) |
D66V |
probably damaging |
Het |
Znrf2 |
T |
C |
6: 54,855,370 (GRCm39) |
I197T |
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 |
|
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 |
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'- ATGTGAACACTGGTGAGGTGC -3'
(R):5'- TCTCTACTGGGACCAATGGC -3'
Sequencing Primer
(F):5'- TCATCCACCACAATGAAGCCG -3'
(R):5'- ACTGGGACCAATGGCTTTTTC -3'
|
Posted On |
2022-11-14 |