Incidental Mutation 'R3277:Fbxw2'
| ID |
475840 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3277 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,020 (GRCm39) |
R553G |
possibly damaging |
Het |
| Adarb2 |
A |
G |
13: 8,802,663 (GRCm39) |
N646S |
probably damaging |
Het |
| Adcy8 |
C |
T |
15: 64,571,008 (GRCm39) |
G1242S |
probably benign |
Het |
| Ano9 |
T |
A |
7: 140,684,037 (GRCm39) |
T543S |
probably damaging |
Het |
| Btnl10 |
A |
G |
11: 58,813,216 (GRCm39) |
K282E |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,060,503 (GRCm39) |
D330G |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,200,709 (GRCm39) |
A416E |
possibly damaging |
Het |
| Cdx2 |
A |
T |
5: 147,240,002 (GRCm39) |
S225T |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,617,120 (GRCm39) |
I843M |
probably benign |
Het |
| Cntn4 |
G |
A |
6: 106,414,925 (GRCm39) |
|
probably null |
Het |
| Cyp4f18 |
T |
C |
8: 72,747,044 (GRCm39) |
D317G |
possibly damaging |
Het |
| Dennd4a |
G |
T |
9: 64,796,275 (GRCm39) |
R767L |
probably damaging |
Het |
| Dgkb |
G |
A |
12: 38,134,216 (GRCm39) |
V41M |
probably damaging |
Het |
| Duox1 |
T |
C |
2: 122,170,597 (GRCm39) |
Y1206H |
probably damaging |
Het |
| Dync1i1 |
T |
C |
6: 5,972,211 (GRCm39) |
|
probably null |
Het |
| Fcgbp |
C |
A |
7: 27,791,086 (GRCm39) |
H782Q |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,122,195 (GRCm39) |
Q1455L |
unknown |
Het |
| Frrs1 |
T |
C |
3: 116,692,873 (GRCm39) |
F49S |
probably damaging |
Het |
| Gli3 |
A |
T |
13: 15,900,567 (GRCm39) |
Q1318L |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
| Gm7104 |
A |
T |
12: 88,252,498 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
| Hacd4 |
T |
C |
4: 88,355,747 (GRCm39) |
H46R |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,803,176 (GRCm39) |
V2175A |
probably benign |
Het |
| Hey1 |
T |
C |
3: 8,729,951 (GRCm39) |
S169G |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hlf |
T |
C |
11: 90,236,661 (GRCm39) |
K199E |
probably damaging |
Het |
| Hpgd |
C |
A |
8: 56,751,448 (GRCm39) |
A92E |
probably damaging |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
| Itgav |
A |
G |
2: 83,606,886 (GRCm39) |
D409G |
probably damaging |
Het |
| Kif2a |
A |
G |
13: 107,113,264 (GRCm39) |
I455T |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lamc3 |
G |
T |
2: 31,798,637 (GRCm39) |
G448C |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,583,475 (GRCm39) |
G425D |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,666,273 (GRCm39) |
|
probably null |
Het |
| Mag |
C |
T |
7: 30,601,073 (GRCm39) |
|
probably null |
Het |
| Mdh1b |
G |
A |
1: 63,750,690 (GRCm39) |
T426M |
possibly damaging |
Het |
| Nr1h4 |
G |
A |
10: 89,314,650 (GRCm39) |
T282I |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or4c1 |
C |
T |
2: 89,133,562 (GRCm39) |
V125M |
possibly damaging |
Het |
| Or52k2 |
T |
C |
7: 102,253,783 (GRCm39) |
V74A |
possibly damaging |
Het |
| Or9s27 |
A |
G |
1: 92,516,535 (GRCm39) |
N161S |
probably benign |
Het |
| Padi6 |
A |
G |
4: 140,462,700 (GRCm39) |
L307P |
probably damaging |
Het |
| Parp9 |
T |
C |
16: 35,768,578 (GRCm39) |
S20P |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,101,703 (GRCm39) |
F963L |
probably damaging |
Het |
| Pwp1 |
C |
T |
10: 85,717,943 (GRCm39) |
L294F |
probably benign |
Het |
| Radil |
A |
G |
5: 142,492,611 (GRCm39) |
L339P |
probably damaging |
Het |
| Raver1 |
G |
A |
9: 20,990,573 (GRCm39) |
P316S |
possibly damaging |
Het |
| Rell1 |
A |
G |
5: 64,084,330 (GRCm39) |
|
probably null |
Het |
| Rxrg |
A |
G |
1: 167,463,269 (GRCm39) |
D257G |
possibly damaging |
Het |
| Sema4c |
C |
T |
1: 36,588,960 (GRCm39) |
R722H |
possibly damaging |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Spata7 |
A |
G |
12: 98,603,857 (GRCm39) |
N75D |
possibly damaging |
Het |
| Ttc23l |
A |
G |
15: 10,547,318 (GRCm39) |
F99L |
possibly damaging |
Het |
| Unc13a |
A |
C |
8: 72,082,339 (GRCm39) |
C1642G |
probably benign |
Het |
| Usp36 |
C |
T |
11: 118,167,585 (GRCm39) |
|
probably null |
Het |
| Wrn |
A |
G |
8: 33,807,582 (GRCm39) |
M292T |
probably damaging |
Het |
| Zfp423 |
A |
G |
8: 88,508,959 (GRCm39) |
Y462H |
probably damaging |
Het |
| Zscan5b |
T |
A |
7: 6,234,345 (GRCm39) |
Y124N |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 13,011,196 (GRCm39) |
T51A |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2017-05-11 |
Incidental Mutation