Incidental Mutation 'IGL01794:Fbxw2'
ID |
155307 |
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 # |
IGL01794
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
34694526-34716323 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 34701131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108703
(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
|
SMART Domains |
Protein: ENSMUSP00000028220 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 |
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
|
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 |
probably benign
Transcript: ENSMUST00000113077
|
SMART Domains |
Protein: ENSMUSP00000108700 Gene: ENSMUSG00000035949
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
|
SMART Domains |
Protein: ENSMUSP00000108701 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 |
Blast:WD40
|
409 |
451 |
6e-19 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113080
|
SMART Domains |
Protein: ENSMUSP00000108703 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 |
Blast:WD40
|
409 |
451 |
6e-19 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156130
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145180
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131534
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134323
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145660
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
C |
T |
6: 91,895,093 (GRCm39) |
R263* |
probably null |
Het |
Appl2 |
A |
G |
10: 83,450,158 (GRCm39) |
V238A |
probably benign |
Het |
Bcl2l11 |
T |
A |
2: 127,970,568 (GRCm39) |
S6T |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,944,047 (GRCm39) |
|
probably null |
Het |
Catsper3 |
T |
C |
13: 55,946,719 (GRCm39) |
S139P |
possibly damaging |
Het |
Cdh3 |
A |
G |
8: 107,263,758 (GRCm39) |
N192S |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,243,240 (GRCm39) |
I71N |
probably damaging |
Het |
Gad1 |
G |
T |
2: 70,427,512 (GRCm39) |
V473L |
probably benign |
Het |
Golm2 |
T |
A |
2: 121,742,407 (GRCm39) |
N206K |
probably benign |
Het |
Gtpbp1 |
C |
T |
15: 79,600,447 (GRCm39) |
T460I |
probably damaging |
Het |
Krt16 |
G |
A |
11: 100,138,731 (GRCm39) |
T185I |
probably benign |
Het |
Mapk1ip1 |
C |
T |
7: 138,438,426 (GRCm39) |
M1I |
probably null |
Het |
Nt5e |
A |
T |
9: 88,249,351 (GRCm39) |
L428F |
probably damaging |
Het |
Or5p54 |
A |
G |
7: 107,554,502 (GRCm39) |
Y218C |
probably damaging |
Het |
Pah |
G |
T |
10: 87,414,784 (GRCm39) |
V379F |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,505,853 (GRCm39) |
T1679A |
probably benign |
Het |
Sdccag8 |
T |
A |
1: 176,672,873 (GRCm39) |
H293Q |
possibly damaging |
Het |
Spmip4 |
T |
C |
6: 50,554,826 (GRCm39) |
I268M |
probably damaging |
Het |
Suco |
A |
G |
1: 161,655,294 (GRCm39) |
M1066T |
probably benign |
Het |
Trim9 |
A |
G |
12: 70,328,654 (GRCm39) |
Y369H |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
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 |
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 |
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 |
2014-02-04 |