Incidental Mutation 'IGL01359:Fbxw2'
| ID |
75683 |
| 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 # |
IGL01359
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
34694526-34716323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34712762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 100
(T100A)
|
| 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 |
probably benign
Transcript: ENSMUST00000028220
AA Change: T100A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028220
Gene: ENSMUSG00000035949
AA Change: T100A
| 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: ENSMUST00000091020
|
| SMART Domains |
Protein: ENSMUSP00000088541
Gene: ENSMUSG00000035949
| 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
AA Change: T100A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108698
Gene: ENSMUSG00000035949
AA Change: T100A
| 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 benign
Transcript: ENSMUST00000113077
AA Change: T100A
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000108700
Gene: ENSMUSG00000035949
AA Change: T100A
| 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: T100A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108701
Gene: ENSMUSG00000035949
AA Change: T100A
| 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: T100A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108703
Gene: ENSMUSG00000035949
AA Change: T100A
| 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: ENSMUST00000134323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156130
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131534
|
| Meta Mutation Damage Score |
0.0791 |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
G |
A |
17: 43,621,577 (GRCm39) |
E605K |
probably damaging |
Het |
| Adgrl4 |
G |
A |
3: 151,248,923 (GRCm39) |
C737Y |
probably damaging |
Het |
| Ankk1 |
A |
T |
9: 49,327,328 (GRCm39) |
I617N |
possibly damaging |
Het |
| B3gat2 |
T |
C |
1: 23,802,301 (GRCm39) |
F196L |
probably damaging |
Het |
| Bcl2l14 |
T |
A |
6: 134,400,828 (GRCm39) |
I83N |
probably damaging |
Het |
| Bcr |
T |
C |
10: 74,995,611 (GRCm39) |
|
probably benign |
Het |
| Ckmt2 |
A |
T |
13: 92,009,939 (GRCm39) |
I127N |
probably damaging |
Het |
| Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
| Dnah11 |
T |
C |
12: 117,946,734 (GRCm39) |
T3117A |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,642,614 (GRCm39) |
Y405C |
probably benign |
Het |
| Emc2 |
A |
G |
15: 43,375,145 (GRCm39) |
Y214C |
probably damaging |
Het |
| Fkrp |
C |
T |
7: 16,545,415 (GRCm39) |
R149Q |
probably benign |
Het |
| Fsd1l |
A |
G |
4: 53,659,601 (GRCm39) |
R153G |
possibly damaging |
Het |
| Galnt4 |
T |
C |
10: 98,945,459 (GRCm39) |
Y395H |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,019,842 (GRCm39) |
L126P |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,669,438 (GRCm39) |
S830G |
probably benign |
Het |
| Gpc5 |
G |
A |
14: 115,607,162 (GRCm39) |
G255S |
possibly damaging |
Het |
| Grk3 |
C |
A |
5: 113,085,626 (GRCm39) |
S370I |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,346,550 (GRCm39) |
D1972G |
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,639,729 (GRCm39) |
D364V |
probably damaging |
Het |
| Lce1f |
G |
T |
3: 92,626,491 (GRCm39) |
C55* |
probably null |
Het |
| Ltn1 |
A |
C |
16: 87,202,581 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,315 (GRCm39) |
A8V |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,743,686 (GRCm39) |
E3974G |
probably benign |
Het |
| Msl3l2 |
T |
C |
10: 55,992,340 (GRCm39) |
V355A |
probably damaging |
Het |
| Nadsyn1 |
T |
C |
7: 143,374,967 (GRCm39) |
I30V |
possibly damaging |
Het |
| Nuggc |
T |
C |
14: 65,860,656 (GRCm39) |
V418A |
probably damaging |
Het |
| Or4f57 |
A |
T |
2: 111,791,406 (GRCm39) |
M4K |
probably benign |
Het |
| Or52e8 |
T |
C |
7: 104,625,193 (GRCm39) |
|
probably null |
Het |
| Or52m2 |
A |
T |
7: 102,263,379 (GRCm39) |
H272Q |
probably benign |
Het |
| Ppp4r3a |
T |
C |
12: 101,024,755 (GRCm39) |
E248G |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,971,067 (GRCm39) |
V234E |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,529,468 (GRCm39) |
T105I |
probably damaging |
Het |
| Saa4 |
A |
G |
7: 46,381,060 (GRCm39) |
W21R |
possibly damaging |
Het |
| Sec62 |
G |
A |
3: 30,868,455 (GRCm39) |
S228N |
unknown |
Het |
| Setd4 |
C |
T |
16: 93,388,127 (GRCm39) |
G120S |
probably damaging |
Het |
| Sgpl1 |
G |
A |
10: 60,936,687 (GRCm39) |
T556I |
probably benign |
Het |
| Slc14a2 |
T |
C |
18: 78,197,323 (GRCm39) |
D811G |
probably benign |
Het |
| Slc26a11 |
A |
T |
11: 119,254,257 (GRCm39) |
M192L |
probably benign |
Het |
| Spon1 |
A |
T |
7: 113,633,525 (GRCm39) |
Q656L |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,071,926 (GRCm39) |
D2491G |
probably damaging |
Het |
| Tox |
T |
C |
4: 6,697,583 (GRCm39) |
T407A |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 37,973,250 (GRCm39) |
I2611N |
probably damaging |
Het |
| Usp25 |
G |
A |
16: 76,856,141 (GRCm39) |
A245T |
probably damaging |
Het |
| Vwa8 |
C |
A |
14: 79,302,353 (GRCm39) |
Y1007* |
probably null |
Het |
| Zfp423 |
T |
C |
8: 88,507,290 (GRCm39) |
H893R |
probably damaging |
Het |
| Zfp507 |
A |
G |
7: 35,493,927 (GRCm39) |
I372T |
probably 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 |
|
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 |
2013-10-07 |
Incidental Mutation