Incidental Mutation 'R5345:Fbxw11'
| ID |
422568 |
| 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 |
042924-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R5345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
32592724-32696816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32688471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 410
(N410S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076383]
[ENSMUST00000093205]
[ENSMUST00000109366]
|
| AlphaFold |
Q5SRY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076383
AA Change: N444S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271
AA Change: N444S
| 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: N423S
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271
AA Change: N423S
| 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: N410S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271
AA Change: N410S
| 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 |
|
| Meta Mutation Damage Score |
0.1516 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
98% (65/66) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
A |
2: 31,687,059 (GRCm39) |
S519T |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,926,944 (GRCm39) |
S524P |
probably benign |
Het |
| Acot1 |
T |
A |
12: 84,063,942 (GRCm39) |
I350N |
probably damaging |
Het |
| Adam8 |
A |
G |
7: 139,567,552 (GRCm39) |
V397A |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,709,310 (GRCm39) |
M735T |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,633,497 (GRCm39) |
|
probably null |
Het |
| Cdc25b |
A |
G |
2: 131,034,516 (GRCm39) |
S222G |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,709,323 (GRCm39) |
S1390P |
probably damaging |
Het |
| Clca4a |
T |
G |
3: 144,676,222 (GRCm39) |
D104A |
probably damaging |
Het |
| Clcn6 |
A |
T |
4: 148,123,206 (GRCm39) |
|
probably benign |
Het |
| Coq8b |
A |
G |
7: 26,949,773 (GRCm39) |
T320A |
probably benign |
Het |
| Cspg5 |
A |
T |
9: 110,075,698 (GRCm39) |
M145L |
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,614,676 (GRCm39) |
I284F |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,985,947 (GRCm39) |
I565V |
probably benign |
Het |
| Gabrb2 |
C |
T |
11: 42,517,636 (GRCm39) |
A448V |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,402,037 (GRCm39) |
D375G |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,722,783 (GRCm39) |
V1073A |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,613,078 (GRCm39) |
T139A |
probably benign |
Het |
| L1td1 |
G |
A |
4: 98,624,684 (GRCm39) |
G293D |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,124,558 (GRCm39) |
M2873V |
probably benign |
Het |
| Msantd5f6 |
A |
T |
4: 73,319,514 (GRCm39) |
W77R |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,388,364 (GRCm39) |
R1960G |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,367,369 (GRCm39) |
|
probably null |
Het |
| Ndufb4 |
A |
G |
16: 37,474,540 (GRCm39) |
|
probably null |
Het |
| Nup153 |
A |
T |
13: 46,840,341 (GRCm39) |
L1089* |
probably null |
Het |
| Or10g3 |
G |
A |
14: 52,609,725 (GRCm39) |
R262* |
probably null |
Het |
| Or2l13b |
T |
A |
16: 19,349,527 (GRCm39) |
I48F |
probably damaging |
Het |
| Or5aq1b |
A |
G |
2: 86,901,836 (GRCm39) |
V214A |
possibly damaging |
Het |
| P2rx1 |
A |
G |
11: 72,900,056 (GRCm39) |
T158A |
probably damaging |
Het |
| Park7 |
A |
G |
4: 150,992,880 (GRCm39) |
|
probably benign |
Het |
| Parl |
A |
T |
16: 20,116,892 (GRCm39) |
F102I |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,685,831 (GRCm39) |
H720L |
probably benign |
Het |
| Ptpn4 |
A |
G |
1: 119,693,207 (GRCm39) |
S140P |
probably benign |
Het |
| Rel |
A |
G |
11: 23,692,462 (GRCm39) |
S524P |
probably benign |
Het |
| Ripply2 |
A |
G |
9: 86,901,779 (GRCm39) |
|
probably null |
Het |
| Rmc1 |
C |
T |
18: 12,312,234 (GRCm39) |
T158M |
probably benign |
Het |
| Rps4l-ps |
T |
C |
7: 114,526,433 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn4ip1 |
T |
C |
10: 43,808,466 (GRCm39) |
L81P |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,781,251 (GRCm39) |
L138P |
probably benign |
Het |
| Scp2 |
A |
T |
4: 107,912,776 (GRCm39) |
|
probably null |
Het |
| Sec24c |
T |
A |
14: 20,743,288 (GRCm39) |
M970K |
probably benign |
Het |
| Setd5 |
C |
T |
6: 113,092,968 (GRCm39) |
P340L |
probably damaging |
Het |
| Sgcg |
A |
T |
14: 61,483,218 (GRCm39) |
M61K |
probably damaging |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| Slc34a1 |
A |
G |
13: 55,548,331 (GRCm39) |
R21G |
probably benign |
Het |
| Slc7a14 |
A |
C |
3: 31,278,006 (GRCm39) |
L533W |
probably damaging |
Het |
| Srsf9 |
A |
G |
5: 115,468,595 (GRCm39) |
D77G |
probably benign |
Het |
| Tab1 |
A |
T |
15: 80,034,014 (GRCm39) |
E119V |
possibly damaging |
Het |
| Tcstv5 |
A |
T |
13: 120,411,384 (GRCm39) |
V74E |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,113 (GRCm39) |
A757V |
possibly damaging |
Het |
| Tradd |
A |
T |
8: 105,986,556 (GRCm39) |
I72N |
probably damaging |
Het |
| Trbv12-1 |
C |
T |
6: 41,090,781 (GRCm39) |
T51M |
probably benign |
Het |
| Tsga10 |
T |
C |
1: 37,802,392 (GRCm39) |
K605E |
probably damaging |
Het |
| Vwc2l |
A |
G |
1: 70,768,077 (GRCm39) |
D47G |
probably damaging |
Het |
| Zfp647 |
T |
A |
15: 76,795,695 (GRCm39) |
T322S |
possibly damaging |
Het |
| Zscan20 |
A |
C |
4: 128,481,914 (GRCm39) |
S583A |
probably benign |
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 |
|
|
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'- AGGGTACATGTTCCTGTCCAC -3'
(R):5'- CTTGGCAAAGCTCAGTAATGG -3'
Sequencing Primer
(F):5'- TGTCCACGCTCTCTGAAGGTG -3'
(R):5'- AAGCTCAGTAATGGCTCCTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation