Incidental Mutation 'R9730:Fbxw11'
| ID |
736024 |
| 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 # |
R9730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
32592724-32696816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32688395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 419
(T419A)
|
| 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: T419A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271
AA Change: T419A
| 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 damaging
Transcript: ENSMUST00000093205
AA Change: T398A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271
AA Change: T398A
| 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: T385A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271
AA Change: T385A
| 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: 99.4%
- 20x: 98.6%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
G |
A |
17: 45,829,534 (GRCm39) |
R807Q |
probably benign |
Het |
| Alms1 |
G |
A |
6: 85,606,420 (GRCm39) |
R2221Q |
probably benign |
Het |
| Alox12 |
C |
T |
11: 70,140,920 (GRCm39) |
A372T |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,019,493 (GRCm39) |
M2V |
|
Het |
| Cdon |
A |
G |
9: 35,398,263 (GRCm39) |
I993M |
probably benign |
Het |
| Chil5 |
T |
C |
3: 105,926,470 (GRCm39) |
T120A |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,632,979 (GRCm39) |
H157R |
probably damaging |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cyp39a1 |
A |
G |
17: 43,991,029 (GRCm39) |
N113D |
probably benign |
Het |
| Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
| Dennd3 |
A |
G |
15: 73,426,959 (GRCm39) |
K779E |
probably damaging |
Het |
| Etnppl |
C |
T |
3: 130,415,958 (GRCm39) |
A115V |
probably damaging |
Het |
| Exoc6 |
C |
T |
19: 37,588,032 (GRCm39) |
T555I |
probably benign |
Het |
| Hcn4 |
G |
T |
9: 58,731,493 (GRCm39) |
M233I |
unknown |
Het |
| Hgfac |
T |
C |
5: 35,204,282 (GRCm39) |
V515A |
probably damaging |
Het |
| Hikeshi |
T |
C |
7: 89,569,371 (GRCm39) |
Y150C |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,839,423 (GRCm39) |
Y645C |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,401,124 (GRCm39) |
I521T |
possibly damaging |
Het |
| Ldhal6b |
A |
G |
17: 5,468,094 (GRCm39) |
V280A |
possibly damaging |
Het |
| Map1s |
C |
T |
8: 71,369,178 (GRCm39) |
A909V |
possibly damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,747 (GRCm39) |
Y92F |
possibly damaging |
Het |
| Plaa |
G |
A |
4: 94,466,660 (GRCm39) |
P484S |
probably benign |
Het |
| Ppp1r3a |
G |
T |
6: 14,721,923 (GRCm39) |
A301D |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,858,659 (GRCm39) |
S1544P |
possibly damaging |
Het |
| Scara3 |
A |
G |
14: 66,168,261 (GRCm39) |
V452A |
probably damaging |
Het |
| Slc12a9 |
T |
A |
5: 137,325,732 (GRCm39) |
D293V |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,783,004 (GRCm39) |
N1101S |
unknown |
Het |
| Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,757,552 (GRCm39) |
D865E |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,213,247 (GRCm39) |
D17G |
probably benign |
Het |
| Try4 |
A |
T |
6: 41,281,996 (GRCm39) |
D194V |
probably damaging |
Het |
| Zfp30 |
A |
G |
7: 29,492,139 (GRCm39) |
E212G |
probably damaging |
Het |
| Zfp445 |
A |
C |
9: 122,681,490 (GRCm39) |
I817R |
probably damaging |
Het |
| Zfp534 |
A |
T |
4: 147,759,378 (GRCm39) |
H430Q |
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 |
|
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'- ACTCACAGTGGCCAACTTCC -3'
(R):5'- CTCCTCTGCATGATTCACAGG -3'
Sequencing Primer
(F):5'- AGTGGCCAACTTCCGTTCAG -3'
(R):5'- CTCTGCATGATTCACAGGGTATAAAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation