Incidental Mutation 'IGL00498:Fbxw2'
| ID |
7227 |
| 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 # |
IGL00498
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
34694526-34716323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34695953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 250
(A250T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028220]
[ENSMUST00000091020]
[ENSMUST00000113075]
[ENSMUST00000113077]
[ENSMUST00000113078]
[ENSMUST00000113080]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028220
AA Change: A379T
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028220
Gene: ENSMUSG00000035949
AA Change: A379T
| 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: A250T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088541
Gene: ENSMUSG00000035949
AA Change: A250T
| 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 |
probably benign
Transcript: ENSMUST00000113075
|
| SMART Domains |
Protein: ENSMUSP00000108698
Gene: ENSMUSG00000035949
| 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 |
possibly damaging
Transcript: ENSMUST00000113077
AA Change: A314T
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108700
Gene: ENSMUSG00000035949
AA Change: A314T
| 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 |
probably benign
Transcript: ENSMUST00000113078
AA Change: A379T
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108701
Gene: ENSMUSG00000035949
AA Change: A379T
| 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 benign
Transcript: ENSMUST00000113080
AA Change: A379T
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108703
Gene: ENSMUSG00000035949
AA Change: A379T
| 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: ENSMUST00000145180
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156130
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
G |
A |
2: 68,432,242 (GRCm39) |
G128R |
unknown |
Het |
| Acsm5 |
T |
C |
7: 119,141,661 (GRCm39) |
|
probably null |
Het |
| Atad2 |
A |
C |
15: 57,980,216 (GRCm39) |
F423V |
probably damaging |
Het |
| Carmil3 |
T |
A |
14: 55,739,352 (GRCm39) |
|
probably null |
Het |
| Cdc42bpa |
A |
C |
1: 179,933,686 (GRCm39) |
E775A |
probably damaging |
Het |
| Cfdp1 |
T |
C |
8: 112,567,110 (GRCm39) |
E133G |
probably benign |
Het |
| Chst3 |
A |
G |
10: 60,021,441 (GRCm39) |
F469L |
possibly damaging |
Het |
| Dbx1 |
T |
C |
7: 49,286,222 (GRCm39) |
D81G |
probably benign |
Het |
| Dmp1 |
A |
G |
5: 104,358,021 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,896,150 (GRCm39) |
T855A |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,791,222 (GRCm39) |
C828R |
probably damaging |
Het |
| Gmfg |
G |
T |
7: 28,145,810 (GRCm39) |
R83L |
possibly damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,089,440 (GRCm39) |
|
probably benign |
Het |
| Hcfc1r1 |
G |
A |
17: 23,892,982 (GRCm39) |
R9Q |
probably damaging |
Het |
| Hsd17b1 |
A |
T |
11: 100,970,884 (GRCm39) |
H280L |
possibly damaging |
Het |
| Hsd17b12 |
A |
C |
2: 93,913,510 (GRCm39) |
|
probably null |
Het |
| Itga1 |
A |
G |
13: 115,167,729 (GRCm39) |
V99A |
probably benign |
Het |
| Kcnn1 |
A |
G |
8: 71,305,524 (GRCm39) |
S229P |
probably damaging |
Het |
| Klhdc8a |
A |
G |
1: 132,230,756 (GRCm39) |
N207S |
probably benign |
Het |
| Lrrtm4 |
T |
C |
6: 79,999,529 (GRCm39) |
W314R |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 16,146,997 (GRCm39) |
|
probably benign |
Het |
| Marcks |
T |
C |
10: 37,014,513 (GRCm39) |
K7E |
probably damaging |
Het |
| Mov10 |
A |
G |
3: 104,708,263 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
T |
5: 14,590,753 (GRCm39) |
T1018S |
unknown |
Het |
| Sdk1 |
T |
C |
5: 142,071,361 (GRCm39) |
Y1184H |
probably damaging |
Het |
| Slc6a18 |
A |
T |
13: 73,819,838 (GRCm39) |
M244K |
possibly damaging |
Het |
| Snx19 |
C |
T |
9: 30,340,233 (GRCm39) |
T457I |
possibly damaging |
Het |
| Stard3 |
T |
A |
11: 98,267,356 (GRCm39) |
V158D |
possibly damaging |
Het |
| Tnks |
G |
T |
8: 35,328,843 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
A |
G |
5: 87,049,084 (GRCm39) |
S314P |
probably damaging |
Het |
| Usp15 |
G |
A |
10: 122,949,501 (GRCm39) |
S952L |
probably benign |
Het |
| Utp11 |
A |
G |
4: 124,573,532 (GRCm39) |
V214A |
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 |
|
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 |
|
|
IGL01934:Fbxw2
|
APN |
2 |
34,712,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2012-04-20 |
Incidental Mutation