Incidental Mutation 'IGL01934:Fbxw2'
| ID |
180542 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxw2
|
| Ensembl Gene |
ENSMUSG00000035949 |
| Gene Name |
F-box and WD-40 domain protein 2 |
| Synonyms |
MD6, FBW2, Fwd2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01934
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
34694526-34716323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34712618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 148
(S148G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028220]
[ENSMUST00000091020]
[ENSMUST00000113075]
[ENSMUST00000113077]
[ENSMUST00000113078]
[ENSMUST00000113080]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028220
AA Change: S148G
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028220
Gene: ENSMUSG00000035949
AA Change: S148G
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
60 |
100 |
4.19e-7 |
SMART |
|
WD40
|
137 |
174 |
4.48e-2 |
SMART |
|
WD40
|
177 |
212 |
6.19e-1 |
SMART |
|
WD40
|
215 |
254 |
4.44e-6 |
SMART |
|
WD40
|
257 |
305 |
4.95e0 |
SMART |
|
WD40
|
311 |
351 |
6.6e1 |
SMART |
|
Blast:WD40
|
409 |
451 |
6e-19 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091020
AA Change: S19G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088541
Gene: ENSMUSG00000035949
AA Change: S19G
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
8 |
45 |
4.48e-2 |
SMART |
|
WD40
|
48 |
83 |
6.19e-1 |
SMART |
|
WD40
|
86 |
125 |
4.44e-6 |
SMART |
|
WD40
|
128 |
176 |
4.95e0 |
SMART |
|
WD40
|
182 |
222 |
6.6e1 |
SMART |
|
Blast:WD40
|
280 |
322 |
2e-19 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113075
AA Change: S148G
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108698
Gene: ENSMUSG00000035949
AA Change: S148G
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
60 |
100 |
4.19e-7 |
SMART |
|
WD40
|
137 |
174 |
4.48e-2 |
SMART |
|
WD40
|
177 |
212 |
6.19e-1 |
SMART |
|
WD40
|
215 |
254 |
4.44e-6 |
SMART |
|
WD40
|
257 |
305 |
4.95e0 |
SMART |
|
WD40
|
311 |
351 |
6.6e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113077
AA Change: S148G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108700
Gene: ENSMUSG00000035949
AA Change: S148G
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
60 |
100 |
4.19e-7 |
SMART |
|
WD40
|
137 |
189 |
1.03e0 |
SMART |
|
WD40
|
192 |
240 |
4.95e0 |
SMART |
|
WD40
|
246 |
286 |
6.6e1 |
SMART |
|
Blast:WD40
|
344 |
386 |
3e-19 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113078
AA Change: S148G
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108701
Gene: ENSMUSG00000035949
AA Change: S148G
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
60 |
100 |
4.19e-7 |
SMART |
|
WD40
|
137 |
174 |
4.48e-2 |
SMART |
|
WD40
|
177 |
212 |
6.19e-1 |
SMART |
|
WD40
|
215 |
254 |
4.44e-6 |
SMART |
|
WD40
|
257 |
305 |
4.95e0 |
SMART |
|
WD40
|
311 |
351 |
6.6e1 |
SMART |
|
Blast:WD40
|
409 |
451 |
6e-19 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113080
AA Change: S148G
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108703
Gene: ENSMUSG00000035949
AA Change: S148G
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
60 |
100 |
4.19e-7 |
SMART |
|
WD40
|
137 |
174 |
4.48e-2 |
SMART |
|
WD40
|
177 |
212 |
6.19e-1 |
SMART |
|
WD40
|
215 |
254 |
4.44e-6 |
SMART |
|
WD40
|
257 |
305 |
4.95e0 |
SMART |
|
WD40
|
311 |
351 |
6.6e1 |
SMART |
|
Blast:WD40
|
409 |
451 |
6e-19 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126051
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156130
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131534
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,823,112 (GRCm39) |
K362E |
probably damaging |
Het |
| 4932438H23Rik |
T |
A |
16: 90,852,753 (GRCm39) |
T128S |
probably damaging |
Het |
| Aars1 |
T |
A |
8: 111,774,650 (GRCm39) |
I593N |
probably damaging |
Het |
| Abca6 |
A |
T |
11: 110,079,481 (GRCm39) |
N1224K |
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,241,191 (GRCm39) |
|
probably benign |
Het |
| Adam7 |
A |
G |
14: 68,770,048 (GRCm39) |
L35P |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,980,021 (GRCm39) |
L435Q |
probably damaging |
Het |
| Ankef1 |
A |
G |
2: 136,394,451 (GRCm39) |
E620G |
possibly damaging |
Het |
| Aoc1l3 |
A |
T |
6: 48,965,695 (GRCm39) |
I568F |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,545,092 (GRCm39) |
L1082* |
probably null |
Het |
| Atp6v0a4 |
T |
A |
6: 38,028,481 (GRCm39) |
I712F |
possibly damaging |
Het |
| Bco1 |
T |
A |
8: 117,822,784 (GRCm39) |
F5L |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,285,729 (GRCm39) |
S794C |
probably damaging |
Het |
| Camk2d |
T |
C |
3: 126,628,304 (GRCm39) |
|
probably null |
Het |
| Capn15 |
T |
C |
17: 26,181,998 (GRCm39) |
T604A |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,839,366 (GRCm39) |
D83V |
probably damaging |
Het |
| Ces1a |
C |
A |
8: 93,759,278 (GRCm39) |
R286L |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,575,858 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
A |
G |
2: 145,773,202 (GRCm39) |
V148A |
probably benign |
Het |
| Epas1 |
A |
T |
17: 87,131,157 (GRCm39) |
K312N |
probably damaging |
Het |
| Fig4 |
T |
C |
10: 41,104,108 (GRCm39) |
T791A |
probably benign |
Het |
| Galnt9 |
A |
T |
5: 110,750,502 (GRCm39) |
I340F |
possibly damaging |
Het |
| Gfap |
G |
A |
11: 102,785,286 (GRCm39) |
A230V |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm454 |
T |
C |
5: 138,205,424 (GRCm39) |
|
noncoding transcript |
Het |
| Il24 |
A |
T |
1: 130,811,614 (GRCm39) |
L115Q |
probably damaging |
Het |
| Ipp |
C |
A |
4: 116,367,852 (GRCm39) |
N28K |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,018,882 (GRCm39) |
|
probably null |
Het |
| Klf10 |
C |
T |
15: 38,297,528 (GRCm39) |
V171M |
probably benign |
Het |
| Man1b1 |
T |
C |
2: 25,235,523 (GRCm39) |
S350P |
probably benign |
Het |
| Mfsd4a |
T |
C |
1: 131,974,049 (GRCm39) |
Y343C |
probably damaging |
Het |
| Mrpl58 |
C |
A |
11: 115,301,555 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,134,394 (GRCm39) |
|
probably null |
Het |
| Nbas |
T |
C |
12: 13,339,880 (GRCm39) |
|
probably benign |
Het |
| Nisch |
A |
G |
14: 30,898,696 (GRCm39) |
|
probably benign |
Het |
| Or1o2 |
A |
T |
17: 37,542,439 (GRCm39) |
V274D |
probably damaging |
Het |
| Or52z14 |
T |
C |
7: 103,253,182 (GRCm39) |
F107S |
probably damaging |
Het |
| Or5p69 |
A |
G |
7: 107,967,368 (GRCm39) |
I224V |
probably damaging |
Het |
| Parva |
T |
A |
7: 112,187,760 (GRCm39) |
C352* |
probably null |
Het |
| Ptf1a |
T |
A |
2: 19,451,431 (GRCm39) |
C254S |
possibly damaging |
Het |
| R3hdm1 |
G |
T |
1: 128,164,272 (GRCm39) |
R1062L |
probably benign |
Het |
| Rnf44 |
A |
G |
13: 54,829,763 (GRCm39) |
V407A |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,434,049 (GRCm39) |
L1598P |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,395,747 (GRCm39) |
S717P |
possibly damaging |
Het |
| Tdpoz4 |
A |
G |
3: 93,704,779 (GRCm39) |
K359E |
probably damaging |
Het |
| Tmtc4 |
A |
T |
14: 123,165,047 (GRCm39) |
L604* |
probably null |
Het |
| Tnfrsf21 |
A |
T |
17: 43,376,078 (GRCm39) |
N488I |
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,752,747 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,575,019 (GRCm39) |
L382M |
probably benign |
Het |
| Tut1 |
T |
C |
19: 8,931,355 (GRCm39) |
C18R |
probably damaging |
Het |
| Ugt8a |
A |
G |
3: 125,708,424 (GRCm39) |
S229P |
probably benign |
Het |
| Usp22 |
T |
C |
11: 61,046,114 (GRCm39) |
E476G |
probably damaging |
Het |
| Vill |
G |
T |
9: 118,895,877 (GRCm39) |
A146S |
probably damaging |
Het |
| Vmn1r178 |
T |
C |
7: 23,593,362 (GRCm39) |
Y137H |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,717,833 (GRCm39) |
W51R |
probably damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,296,768 (GRCm39) |
|
probably null |
Het |
| Zfp236 |
A |
T |
18: 82,651,245 (GRCm39) |
V889E |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,486,277 (GRCm39) |
D141G |
possibly damaging |
Het |
|
| Other mutations in Fbxw2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Fbxw2
|
APN |
2 |
34,702,961 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL00498:Fbxw2
|
APN |
2 |
34,695,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01359:Fbxw2
|
APN |
2 |
34,712,762 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01770:Fbxw2
|
APN |
2 |
34,701,038 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01794:Fbxw2
|
APN |
2 |
34,701,131 (GRCm39) |
splice site |
probably benign |
|
|
IGL02444:Fbxw2
|
APN |
2 |
34,695,793 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02948:Fbxw2
|
APN |
2 |
34,695,723 (GRCm39) |
makesense |
probably null |
|
|
IGL03209:Fbxw2
|
APN |
2 |
34,712,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
silkpurse
|
UTSW |
2 |
34,702,825 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0597:Fbxw2
|
UTSW |
2 |
34,701,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0636:Fbxw2
|
UTSW |
2 |
34,712,859 (GRCm39) |
nonsense |
probably null |
|
|
R1489:Fbxw2
|
UTSW |
2 |
34,702,829 (GRCm39) |
small insertion |
probably benign |
|
|
R1920:Fbxw2
|
UTSW |
2 |
34,712,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3177:Fbxw2
|
UTSW |
2 |
34,712,762 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3277:Fbxw2
|
UTSW |
2 |
34,712,762 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6194:Fbxw2
|
UTSW |
2 |
34,697,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6236:Fbxw2
|
UTSW |
2 |
34,712,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Fbxw2
|
UTSW |
2 |
34,702,825 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7382:Fbxw2
|
UTSW |
2 |
34,697,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7636:Fbxw2
|
UTSW |
2 |
34,702,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8361:Fbxw2
|
UTSW |
2 |
34,697,426 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8841:Fbxw2
|
UTSW |
2 |
34,712,844 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation