Incidental Mutation 'R6948:Fbxw11'
| ID |
540976 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R6948 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
32592724-32696816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32692597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 523
(T523A)
|
| 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: T557A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271
AA Change: T557A
| 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: T536A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271
AA Change: T536A
| 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: T523A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271
AA Change: T523A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
97% (36/37) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgap2 |
A |
G |
2: 91,097,524 (GRCm39) |
T107A |
probably benign |
Het |
| Calhm3 |
T |
A |
19: 47,140,344 (GRCm39) |
M250L |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,447,327 (GRCm39) |
I276L |
probably benign |
Het |
| Cd70 |
T |
C |
17: 57,456,594 (GRCm39) |
E3G |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,790,683 (GRCm39) |
S455R |
probably damaging |
Het |
| Cgn |
C |
G |
3: 94,680,531 (GRCm39) |
E590D |
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,873,468 (GRCm39) |
I423F |
possibly damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,034,636 (GRCm39) |
M345L |
possibly damaging |
Het |
| Dner |
T |
C |
1: 84,383,738 (GRCm39) |
N549D |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,063,595 (GRCm39) |
L4517Q |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,195,475 (GRCm39) |
|
probably benign |
Het |
| Gcfc2 |
A |
G |
6: 81,910,734 (GRCm39) |
E237G |
probably benign |
Het |
| Ipo5 |
G |
T |
14: 121,160,527 (GRCm39) |
M181I |
probably benign |
Het |
| Itprid1 |
C |
T |
6: 55,955,470 (GRCm39) |
T1026I |
probably benign |
Het |
| Klhl32 |
A |
G |
4: 24,629,250 (GRCm39) |
Y506H |
probably benign |
Het |
| Mast3 |
G |
A |
8: 71,238,126 (GRCm39) |
T505I |
probably damaging |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,464 (GRCm39) |
V118D |
possibly damaging |
Het |
| Mtor |
T |
G |
4: 148,621,209 (GRCm39) |
V1869G |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,522,703 (GRCm39) |
M720K |
possibly damaging |
Het |
| Npy4r |
A |
G |
14: 33,868,731 (GRCm39) |
Y186H |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,997,142 (GRCm39) |
S1520P |
probably damaging |
Het |
| Or10g1b |
A |
T |
14: 52,627,614 (GRCm39) |
F205L |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,655,994 (GRCm39) |
N274D |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,945,702 (GRCm39) |
Y2078H |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,129,085 (GRCm39) |
D178G |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,177,033 (GRCm39) |
S1878P |
probably damaging |
Het |
| Rims2 |
T |
C |
15: 39,374,737 (GRCm39) |
V1033A |
probably benign |
Het |
| Scaf1 |
G |
T |
7: 44,662,971 (GRCm39) |
S14* |
probably null |
Het |
| Serpinb9d |
A |
G |
13: 33,384,706 (GRCm39) |
S228G |
possibly damaging |
Het |
| Slc22a14 |
C |
A |
9: 119,060,482 (GRCm39) |
A93S |
probably damaging |
Het |
| Sox30 |
G |
A |
11: 45,908,166 (GRCm39) |
V778M |
probably damaging |
Het |
| Tecrl |
T |
C |
5: 83,457,097 (GRCm39) |
I128V |
probably benign |
Het |
| Trip10 |
T |
A |
17: 57,569,448 (GRCm39) |
C491S |
probably damaging |
Het |
| Vmn1r26 |
A |
T |
6: 57,985,718 (GRCm39) |
M157K |
probably damaging |
Het |
| Zbtb1 |
A |
T |
12: 76,432,601 (GRCm39) |
S196C |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,662,187 (GRCm39) |
D582G |
possibly damaging |
Het |
| Zfp384 |
A |
G |
6: 125,001,873 (GRCm39) |
T125A |
probably benign |
Het |
| Zpr1 |
T |
G |
9: 46,184,939 (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 |
|
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 |
|
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'- CTGGTGATAGGGGCTGTAAAGC -3'
(R):5'- TGGGAGCCTATTGAGACCTTAC -3'
Sequencing Primer
(F):5'- GCTGTAAAGCCATCCTTCCTACATG -3'
(R):5'- GAGCCTATTGAGACCTTACCTGCTAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation