Incidental Mutation 'R7970:Fbxw11'
ID |
650568 |
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 |
046013-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R7970 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
32592724-32696816 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 32672101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 224
(S224A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076383]
[ENSMUST00000093205]
[ENSMUST00000109366]
|
AlphaFold |
Q5SRY7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076383
AA Change: S224A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000075721 Gene: ENSMUSG00000020271 AA Change: S224A
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: S203A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000090893 Gene: ENSMUSG00000020271 AA Change: S203A
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: S190A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000104991 Gene: ENSMUSG00000020271 AA Change: S190A
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (57/57) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat1 |
A |
G |
4: 49,449,266 (GRCm39) |
F167L |
probably damaging |
Het |
Acsbg2 |
A |
G |
17: 57,156,728 (GRCm39) |
Y437H |
probably benign |
Het |
Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
Anapc2 |
T |
C |
2: 25,163,299 (GRCm39) |
S179P |
possibly damaging |
Het |
Aopep |
A |
G |
13: 63,180,974 (GRCm39) |
N312S |
probably benign |
Het |
Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
Arrdc4 |
G |
A |
7: 68,390,820 (GRCm39) |
P307S |
probably damaging |
Het |
B3gnt2 |
T |
C |
11: 22,786,255 (GRCm39) |
Y311C |
probably damaging |
Het |
Brf1 |
T |
C |
12: 112,927,820 (GRCm39) |
D453G |
probably damaging |
Het |
Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
Dst |
G |
T |
1: 34,221,828 (GRCm39) |
C2544F |
possibly damaging |
Het |
Efhc1 |
C |
T |
1: 21,022,019 (GRCm39) |
T21M |
probably benign |
Het |
Efs |
A |
G |
14: 55,157,960 (GRCm39) |
|
probably null |
Het |
Elp1 |
A |
T |
4: 56,771,466 (GRCm39) |
Y944N |
probably damaging |
Het |
Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
Fam171a2 |
A |
T |
11: 102,328,692 (GRCm39) |
V689E |
possibly damaging |
Het |
Fam184a |
T |
C |
10: 53,575,421 (GRCm39) |
T63A |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,831,467 (GRCm39) |
D2897G |
unknown |
Het |
Flnc |
G |
T |
6: 29,447,525 (GRCm39) |
E1109D |
possibly damaging |
Het |
Foxn4 |
A |
G |
5: 114,401,068 (GRCm39) |
|
probably null |
Het |
Gm19410 |
A |
G |
8: 36,282,801 (GRCm39) |
E2009G |
probably benign |
Het |
Gm9958 |
A |
G |
5: 90,515,568 (GRCm39) |
|
probably benign |
Het |
Gprin3 |
C |
T |
6: 59,330,150 (GRCm39) |
R719Q |
possibly damaging |
Het |
Grip2 |
A |
T |
6: 91,763,513 (GRCm39) |
I147N |
probably benign |
Het |
H2-DMb2 |
A |
G |
17: 34,369,572 (GRCm39) |
R239G |
probably benign |
Het |
Hydin |
A |
C |
8: 111,035,723 (GRCm39) |
D138A |
probably damaging |
Het |
Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
Lgr6 |
A |
G |
1: 134,921,723 (GRCm39) |
I484T |
probably benign |
Het |
Mkrn2 |
T |
A |
6: 115,594,269 (GRCm39) |
C327S |
probably damaging |
Het |
Mnt |
C |
T |
11: 74,733,036 (GRCm39) |
A288V |
probably damaging |
Het |
Nckap5 |
T |
A |
1: 125,952,758 (GRCm39) |
K1265* |
probably null |
Het |
Ncoa3 |
A |
T |
2: 165,893,277 (GRCm39) |
H194L |
probably benign |
Het |
Ogn |
A |
T |
13: 49,762,742 (GRCm39) |
H28L |
probably benign |
Het |
Or56a41 |
C |
A |
7: 104,740,556 (GRCm39) |
V97L |
probably benign |
Het |
Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
Or9m1b |
A |
T |
2: 87,836,169 (GRCm39) |
F309I |
probably benign |
Het |
Pclo |
T |
C |
5: 14,764,492 (GRCm39) |
S1037P |
|
Het |
Phlpp1 |
T |
A |
1: 106,101,015 (GRCm39) |
Y428N |
probably damaging |
Het |
Ptpre |
A |
G |
7: 135,280,048 (GRCm39) |
T591A |
possibly damaging |
Het |
Rtn1 |
A |
T |
12: 72,355,648 (GRCm39) |
D99E |
probably benign |
Het |
Scn7a |
A |
T |
2: 66,506,173 (GRCm39) |
I1572N |
probably damaging |
Het |
Sema3a |
T |
A |
5: 13,649,375 (GRCm39) |
M708K |
possibly damaging |
Het |
Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
Slc9a2 |
T |
C |
1: 40,765,374 (GRCm39) |
Y255H |
probably damaging |
Het |
Spock3 |
T |
C |
8: 63,798,749 (GRCm39) |
F254L |
probably damaging |
Het |
St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
St6galnac2 |
T |
C |
11: 116,581,169 (GRCm39) |
D51G |
probably benign |
Het |
Stard13 |
T |
A |
5: 150,986,726 (GRCm39) |
K261N |
possibly damaging |
Het |
Tlk1 |
T |
C |
2: 70,582,644 (GRCm39) |
R162G |
possibly damaging |
Het |
Tlr2 |
T |
C |
3: 83,745,201 (GRCm39) |
D294G |
probably benign |
Het |
Tnks |
A |
G |
8: 35,323,080 (GRCm39) |
|
probably null |
Het |
Trip4 |
A |
G |
9: 65,746,298 (GRCm39) |
S533P |
probably damaging |
Het |
Ttc3 |
T |
A |
16: 94,258,223 (GRCm39) |
W1674R |
probably damaging |
Het |
Tut4 |
G |
A |
4: 108,343,651 (GRCm39) |
S221N |
probably benign |
Het |
Vmn2r114 |
T |
C |
17: 23,530,186 (GRCm39) |
N74D |
probably benign |
Het |
Zdbf2 |
T |
C |
1: 63,343,330 (GRCm39) |
Y570H |
possibly 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 |
|
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'- TGTCTCTACCATGGAAACTACAG -3'
(R):5'- GTGTGATCAGCTCTGAAGAACAG -3'
Sequencing Primer
(F):5'- GAAACCCTCCTTTTGAACTGTTAAC -3'
(R):5'- TCAGCTCTGAAGAACAGCTATAG -3'
|
Posted On |
2020-09-15 |