Incidental Mutation 'R0311:Fbxw11'
| ID |
25218 |
| 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 |
038521-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R0311 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
32592724-32696816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32672083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 184
(T184A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076383]
[ENSMUST00000093205]
[ENSMUST00000109366]
|
| AlphaFold |
Q5SRY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076383
AA Change: T218A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271
AA Change: T218A
| 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: T197A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271
AA Change: T197A
| 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: T184A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271
AA Change: T184A
| 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 |
0.0581 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.6%
- 20x: 91.6%
|
| Validation Efficiency |
100% (43/43) |
| 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 |
|---|
| Abca15 |
A |
C |
7: 120,002,127 (GRCm39) |
M1547L |
probably damaging |
Het |
| Abcb4 |
A |
G |
5: 8,984,243 (GRCm39) |
K658E |
probably benign |
Het |
| Abr |
A |
G |
11: 76,399,953 (GRCm39) |
S15P |
possibly damaging |
Het |
| Adgrb2 |
G |
C |
4: 129,910,922 (GRCm39) |
A1168P |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,109,010 (GRCm39) |
E339V |
probably benign |
Het |
| Asprv1 |
T |
C |
6: 86,605,822 (GRCm39) |
W223R |
probably damaging |
Het |
| Ccdc89 |
A |
G |
7: 90,075,901 (GRCm39) |
E37G |
probably damaging |
Het |
| Cd48 |
C |
A |
1: 171,527,148 (GRCm39) |
Y191* |
probably null |
Het |
| Chd4 |
T |
C |
6: 125,078,628 (GRCm39) |
I257T |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,638,257 (GRCm39) |
M2V |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,090,868 (GRCm39) |
D1025E |
probably benign |
Het |
| Erich5 |
A |
G |
15: 34,473,085 (GRCm39) |
*363W |
probably null |
Het |
| Etl4 |
A |
G |
2: 20,811,940 (GRCm39) |
D1341G |
probably damaging |
Het |
| Fktn |
A |
G |
4: 53,744,620 (GRCm39) |
Q300R |
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gdpd3 |
G |
A |
7: 126,366,361 (GRCm39) |
R66Q |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,320,327 (GRCm39) |
|
probably benign |
Het |
| Kdm4b |
A |
G |
17: 56,693,200 (GRCm39) |
R346G |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,812,183 (GRCm39) |
|
probably null |
Het |
| Med23 |
T |
A |
10: 24,773,256 (GRCm39) |
C653S |
possibly damaging |
Het |
| Nwd2 |
A |
T |
5: 63,962,341 (GRCm39) |
I642L |
probably damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,460 (GRCm39) |
Y71F |
possibly damaging |
Het |
| Or5b21 |
A |
G |
19: 12,839,233 (GRCm39) |
I31M |
probably benign |
Het |
| Or8b48 |
T |
C |
9: 38,450,593 (GRCm39) |
V134A |
probably benign |
Het |
| Pbld2 |
T |
C |
10: 62,890,286 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
| Plpp2 |
C |
T |
10: 79,363,414 (GRCm39) |
R77K |
probably damaging |
Het |
| Pym1 |
G |
T |
10: 128,601,853 (GRCm39) |
R168L |
possibly damaging |
Het |
| Rbm4 |
T |
C |
19: 4,837,584 (GRCm39) |
Y300C |
probably damaging |
Het |
| Rnf207 |
A |
G |
4: 152,400,236 (GRCm39) |
C175R |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
C |
1: 75,407,581 (GRCm39) |
V3196A |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,298,943 (GRCm39) |
I1048L |
possibly damaging |
Het |
| Th |
T |
C |
7: 142,449,778 (GRCm39) |
E41G |
probably damaging |
Het |
| Tmx4 |
T |
A |
2: 134,440,446 (GRCm39) |
*336L |
probably null |
Het |
| Tnfrsf18 |
T |
C |
4: 156,110,872 (GRCm39) |
V10A |
possibly damaging |
Het |
| Tnxb |
A |
T |
17: 34,935,958 (GRCm39) |
I2670F |
probably damaging |
Het |
| Tpx2 |
T |
C |
2: 152,732,412 (GRCm39) |
V562A |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,520,997 (GRCm39) |
S324P |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,127,846 (GRCm39) |
Y890H |
probably benign |
Het |
| Ythdc1 |
G |
A |
5: 86,983,564 (GRCm39) |
D670N |
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 |
|
|
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 |
|
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'- CCAGCATCGTGCCAGAACTAGATTG -3'
(R):5'- TGGCAGCCTTACAGAAGCATTTCG -3'
Sequencing Primer
(F):5'- GTGCCAGAACTAGATTGTCTCTAC -3'
(R):5'- TGTGATCAGCTCTGAAGAACAGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation