Incidental Mutation 'IGL02444:Fbxw2'
ID |
293511 |
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 # |
IGL02444
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
34694526-34716323 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 34695793 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 367
(T367K)
|
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: T432K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028220 Gene: ENSMUSG00000035949 AA Change: T432K
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
AA Change: T303K
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000088541 Gene: ENSMUSG00000035949 AA Change: T303K
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
AA Change: T367K
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000108700 Gene: ENSMUSG00000035949 AA Change: T367K
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: T432K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108701 Gene: ENSMUSG00000035949 AA Change: T432K
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: T432K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108703 Gene: ENSMUSG00000035949 AA Change: T432K
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
G |
8: 44,022,710 (GRCm39) |
I260T |
possibly damaging |
Het |
Arhgap9 |
T |
A |
10: 127,163,816 (GRCm39) |
V484D |
probably damaging |
Het |
Asph |
A |
G |
4: 9,542,319 (GRCm39) |
|
probably benign |
Het |
Bbs9 |
T |
C |
9: 22,555,083 (GRCm39) |
S457P |
probably damaging |
Het |
Bckdk |
A |
G |
7: 127,506,618 (GRCm39) |
T38A |
probably damaging |
Het |
Cast |
G |
A |
13: 74,887,972 (GRCm39) |
T240I |
probably damaging |
Het |
Cdc27 |
T |
C |
11: 104,413,542 (GRCm39) |
|
probably benign |
Het |
Cdon |
T |
C |
9: 35,384,744 (GRCm39) |
S677P |
probably benign |
Het |
Cfap161 |
T |
C |
7: 83,425,353 (GRCm39) |
E246G |
probably damaging |
Het |
Dnah11 |
G |
A |
12: 117,939,608 (GRCm39) |
|
probably benign |
Het |
Dnm3 |
C |
T |
1: 161,838,444 (GRCm39) |
V835I |
possibly damaging |
Het |
Eif3a |
T |
C |
19: 60,762,045 (GRCm39) |
H510R |
possibly damaging |
Het |
Ghsr |
T |
C |
3: 27,426,189 (GRCm39) |
S82P |
probably benign |
Het |
Gm4353 |
C |
T |
7: 115,682,679 (GRCm39) |
V301I |
probably benign |
Het |
Golgb1 |
T |
C |
16: 36,728,178 (GRCm39) |
|
probably benign |
Het |
Gria2 |
T |
A |
3: 80,609,860 (GRCm39) |
M650L |
possibly damaging |
Het |
Herc4 |
T |
C |
10: 63,142,212 (GRCm39) |
V671A |
probably benign |
Het |
Iqcb1 |
T |
A |
16: 36,652,273 (GRCm39) |
Y61* |
probably null |
Het |
Irs2 |
C |
T |
8: 11,056,306 (GRCm39) |
G709S |
probably benign |
Het |
Itpripl1 |
T |
G |
2: 126,983,621 (GRCm39) |
H167P |
possibly damaging |
Het |
Kcnn3 |
T |
C |
3: 89,559,359 (GRCm39) |
V543A |
possibly damaging |
Het |
Klf10 |
T |
A |
15: 38,298,068 (GRCm39) |
K43M |
probably damaging |
Het |
Lcor |
C |
T |
19: 41,547,450 (GRCm39) |
R345C |
probably damaging |
Het |
Lmntd2 |
A |
G |
7: 140,791,832 (GRCm39) |
S304P |
probably damaging |
Het |
Lpar3 |
T |
C |
3: 145,946,949 (GRCm39) |
I209T |
probably damaging |
Het |
Map3k13 |
T |
A |
16: 21,732,982 (GRCm39) |
M528K |
probably benign |
Het |
Me1 |
A |
T |
9: 86,464,967 (GRCm39) |
|
probably benign |
Het |
Nedd4l |
T |
G |
18: 65,337,028 (GRCm39) |
|
probably benign |
Het |
Oas1d |
T |
A |
5: 121,058,071 (GRCm39) |
F338L |
probably benign |
Het |
Or1b1 |
G |
T |
2: 36,994,786 (GRCm39) |
P292Q |
probably damaging |
Het |
Or2c1 |
T |
C |
16: 3,657,551 (GRCm39) |
F238S |
probably damaging |
Het |
Pcdhb5 |
T |
C |
18: 37,454,103 (GRCm39) |
V161A |
probably benign |
Het |
Prdx3 |
A |
T |
19: 60,859,899 (GRCm39) |
F91L |
possibly damaging |
Het |
Rab25 |
T |
C |
3: 88,450,020 (GRCm39) |
T114A |
probably benign |
Het |
Rasal2 |
T |
C |
1: 157,126,765 (GRCm39) |
E73G |
probably benign |
Het |
Slco4c1 |
A |
G |
1: 96,772,234 (GRCm39) |
S252P |
probably damaging |
Het |
Srgap2 |
A |
C |
1: 131,252,891 (GRCm39) |
|
probably null |
Het |
Synpo |
A |
G |
18: 60,735,502 (GRCm39) |
S576P |
probably damaging |
Het |
Tktl2 |
G |
T |
8: 66,966,013 (GRCm39) |
A524S |
possibly damaging |
Het |
Tln2 |
A |
T |
9: 67,165,874 (GRCm39) |
|
probably benign |
Het |
Tmem52 |
G |
A |
4: 155,554,850 (GRCm39) |
D158N |
probably damaging |
Het |
Tyw3 |
T |
A |
3: 154,302,626 (GRCm39) |
Q36L |
probably damaging |
Het |
Usp10 |
A |
T |
8: 120,675,432 (GRCm39) |
I483F |
possibly damaging |
Het |
Usp31 |
A |
G |
7: 121,278,718 (GRCm39) |
Y216H |
probably damaging |
Het |
Vmn1r181 |
T |
C |
7: 23,683,948 (GRCm39) |
S138P |
probably damaging |
Het |
Vmn2r42 |
G |
T |
7: 8,187,312 (GRCm39) |
A770E |
probably damaging |
Het |
Zfp292 |
A |
C |
4: 34,808,810 (GRCm39) |
S1411R |
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 |
|
IGL01934:Fbxw2
|
APN |
2 |
34,712,618 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-04-16 |