Incidental Mutation 'R1327:Fbxw11'
| ID |
157252 |
| 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 |
039393-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R1327 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
32592724-32696816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32661859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 79
(Y79H)
|
| 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: Y100H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271
AA Change: Y100H
| 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: Y79H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271
AA Change: Y79H
| 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: Y66H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271
AA Change: Y66H
| 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 |
0.0722 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 88.1%
|
| Validation Efficiency |
97% (38/39) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
T |
C |
1: 180,560,748 (GRCm39) |
F99L |
possibly damaging |
Het |
| Arg1 |
T |
C |
10: 24,796,702 (GRCm39) |
|
probably null |
Het |
| Bsnd |
C |
T |
4: 106,343,809 (GRCm39) |
E166K |
probably benign |
Het |
| Cxcl9 |
A |
G |
5: 92,474,709 (GRCm39) |
C30R |
probably damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
| Epha5 |
C |
A |
5: 84,254,644 (GRCm39) |
D632Y |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,437,310 (GRCm39) |
M263T |
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,177 (GRCm39) |
I245N |
possibly damaging |
Het |
| Ms4a13 |
A |
T |
19: 11,161,251 (GRCm39) |
I96N |
probably damaging |
Het |
| Nipa2 |
G |
A |
7: 55,594,256 (GRCm39) |
L38F |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,269,840 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,361,098 (GRCm39) |
D454E |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,418,193 (GRCm39) |
G973D |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,408,376 (GRCm39) |
V922A |
possibly damaging |
Het |
| Setbp1 |
T |
C |
18: 78,826,573 (GRCm39) |
M1347V |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,703,016 (GRCm39) |
I130V |
probably benign |
Het |
| Smad7 |
T |
C |
18: 75,509,016 (GRCm39) |
S48P |
probably benign |
Het |
| Star |
A |
G |
8: 26,299,865 (GRCm39) |
D69G |
probably benign |
Het |
| Syne1 |
C |
A |
10: 4,998,925 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,743,743 (GRCm39) |
N1212K |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,090,556 (GRCm39) |
M721V |
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,934,678 (GRCm39) |
D223G |
possibly damaging |
Het |
| Vit |
G |
A |
17: 78,932,629 (GRCm39) |
D579N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,464,173 (GRCm39) |
|
probably benign |
Het |
| Zfp1005 |
A |
T |
2: 150,108,070 (GRCm39) |
H10L |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,724,189 (GRCm39) |
E2064G |
probably damaging |
Het |
| Zftraf1 |
T |
A |
15: 76,533,376 (GRCm39) |
T121S |
probably damaging |
Het |
| Zic5 |
T |
G |
14: 122,697,191 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,784,240 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- GGACGTGGAGACAGATTACTACTAGCC -3'
(R):5'- CCGTGAGAAGTGCAGTTACCTACC -3'
Sequencing Primer
(F):5'- AGCCAACTAGATGCTGGCTTATC -3'
(R):5'- GTGCAGTTACCTACCTGGTAAAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation