Incidental Mutation 'R1489:Fbxw2'
| ID |
163581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw2
|
| Ensembl Gene |
ENSMUSG00000035949 |
| Gene Name |
F-box and WD-40 domain protein 2 |
| Synonyms |
MD6, FBW2, Fwd2 |
| MMRRC Submission |
039541-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1489 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34694526-34716323 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
GCCCCC to GCCCCCCCC
at 34702829 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: ENSMUST00000131534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145180
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156130
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134323
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
96% (52/54) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
G |
12: 55,106,295 (GRCm39) |
S143P |
possibly damaging |
Het |
| 4930522H14Rik |
T |
C |
4: 109,362,654 (GRCm39) |
K218E |
possibly damaging |
Het |
| Abcb1a |
T |
A |
5: 8,736,300 (GRCm39) |
|
probably null |
Het |
| Adam39 |
A |
G |
8: 41,278,031 (GRCm39) |
T141A |
possibly damaging |
Het |
| Adam6b |
T |
A |
12: 113,455,071 (GRCm39) |
S629R |
probably benign |
Het |
| Ap3b2 |
C |
A |
7: 81,113,438 (GRCm39) |
E924* |
probably null |
Het |
| Armc3 |
A |
T |
2: 19,314,858 (GRCm39) |
Y856F |
probably benign |
Het |
| Asap1 |
A |
G |
15: 64,044,579 (GRCm39) |
L142P |
probably damaging |
Het |
| Atg9a |
T |
A |
1: 75,162,734 (GRCm39) |
D427V |
probably damaging |
Het |
| Atl2 |
G |
A |
17: 80,160,135 (GRCm39) |
A17V |
probably benign |
Het |
| Atxn2l |
A |
T |
7: 126,095,639 (GRCm39) |
S379T |
probably damaging |
Het |
| C1ql3 |
G |
T |
2: 13,015,453 (GRCm39) |
P69Q |
possibly damaging |
Het |
| Cap2 |
A |
T |
13: 46,763,111 (GRCm39) |
I114F |
probably damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,096,950 (GRCm39) |
F1383L |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,100,667 (GRCm39) |
I144V |
probably benign |
Het |
| Cox16 |
T |
C |
12: 81,521,389 (GRCm39) |
N135S |
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,108,234 (GRCm39) |
H180Q |
possibly damaging |
Het |
| Dpy19l3 |
A |
T |
7: 35,424,835 (GRCm39) |
Y73* |
probably null |
Het |
| Duox2 |
T |
A |
2: 122,123,877 (GRCm39) |
M436L |
probably benign |
Het |
| Exoc6 |
T |
A |
19: 37,585,568 (GRCm39) |
M481K |
possibly damaging |
Het |
| Fmn1 |
T |
A |
2: 113,195,557 (GRCm39) |
V419E |
unknown |
Het |
| Fndc4 |
T |
C |
5: 31,450,795 (GRCm39) |
*232W |
probably null |
Het |
| Foxc1 |
C |
T |
13: 31,992,595 (GRCm39) |
R469* |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,810,155 (GRCm39) |
H2158R |
probably benign |
Het |
| Ghdc |
C |
T |
11: 100,659,083 (GRCm39) |
G373D |
probably benign |
Het |
| Gm10330 |
A |
T |
12: 23,830,032 (GRCm39) |
S50T |
probably benign |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Lonrf1 |
A |
G |
8: 36,690,108 (GRCm39) |
V650A |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,130,918 (GRCm39) |
V578A |
possibly damaging |
Het |
| Mbd3 |
C |
G |
10: 80,229,740 (GRCm39) |
D190H |
probably damaging |
Het |
| Mcpt9 |
T |
C |
14: 56,264,976 (GRCm39) |
K175R |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,120,121 (GRCm39) |
S85P |
probably benign |
Het |
| Myrip |
T |
C |
9: 120,261,595 (GRCm39) |
F403L |
probably damaging |
Het |
| Nox4 |
A |
G |
7: 86,954,097 (GRCm39) |
Y134C |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,842,217 (GRCm39) |
L642P |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,099,185 (GRCm39) |
Y568F |
possibly damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,593 (GRCm39) |
L333P |
probably benign |
Het |
| Prl |
A |
T |
13: 27,241,619 (GRCm39) |
S3C |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,047,824 (GRCm39) |
T60A |
possibly damaging |
Het |
| Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
| Slc7a7 |
C |
T |
14: 54,646,103 (GRCm39) |
R120H |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,205,761 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
G |
1: 174,058,891 (GRCm39) |
E1942G |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,333,479 (GRCm39) |
Y66C |
probably damaging |
Het |
| Tnnt1 |
A |
T |
7: 4,510,524 (GRCm39) |
Y232* |
probably null |
Het |
| Tpte |
T |
C |
8: 22,839,405 (GRCm39) |
|
probably null |
Het |
| Virma |
T |
C |
4: 11,521,164 (GRCm39) |
V907A |
probably damaging |
Het |
| Vmn1r174 |
C |
T |
7: 23,453,981 (GRCm39) |
Q216* |
probably null |
Het |
| Zswim3 |
T |
C |
2: 164,661,901 (GRCm39) |
V127A |
probably benign |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGTGAACCACCTTGTGCC -3'
(R):5'- TCTGCAAAGCTGTGGGATGTAAGC -3'
Sequencing Primer
(F):5'- TCCTTCCAGCATACATAAAGAGTG -3'
(R):5'- GCACAGGGCAGTGTGTTTAC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation