Incidental Mutation 'R1166:Fbxo17'
| ID |
101012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo17
|
| Ensembl Gene |
ENSMUSG00000030598 |
| Gene Name |
F-box protein 17 |
| Synonyms |
FBXO26, Fbg4, Fbx17 |
| MMRRC Submission |
039239-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R1166 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28416229-28437569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 28432953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 158
(V158E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032818]
[ENSMUST00000108278]
[ENSMUST00000108279]
[ENSMUST00000167118]
|
| AlphaFold |
Q9QZM8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032818
AA Change: V158E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032818
Gene: ENSMUSG00000030598
AA Change: V158E
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
21 |
62 |
7.7e-6 |
SMART |
|
low complexity region
|
83 |
92 |
N/A |
INTRINSIC |
|
FBA
|
101 |
283 |
7.76e-96 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108278
AA Change: V158E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103913
Gene: ENSMUSG00000030598
AA Change: V158E
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
21 |
62 |
7.7e-6 |
SMART |
|
low complexity region
|
83 |
92 |
N/A |
INTRINSIC |
|
FBA
|
101 |
283 |
7.76e-96 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108279
AA Change: V158E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103914
Gene: ENSMUSG00000030598
AA Change: V158E
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
21 |
62 |
7.7e-6 |
SMART |
|
low complexity region
|
83 |
92 |
N/A |
INTRINSIC |
|
FBA
|
101 |
242 |
1.34e-49 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167118
AA Change: V158E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130422
Gene: ENSMUSG00000030598
AA Change: V158E
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
21 |
62 |
7.7e-6 |
SMART |
|
low complexity region
|
83 |
92 |
N/A |
INTRINSIC |
|
FBA
|
101 |
283 |
7.76e-96 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.0%
- 20x: 86.3%
|
| Validation Efficiency |
96% (43/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by the F-box motif. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it contains an F-box domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,547,880 (GRCm39) |
K286R |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,302,581 (GRCm39) |
|
probably benign |
Het |
| Ccdc175 |
T |
G |
12: 72,152,706 (GRCm39) |
K733T |
probably damaging |
Het |
| Cenpn |
T |
G |
8: 117,652,946 (GRCm39) |
I39R |
probably damaging |
Het |
| Cfap53 |
A |
T |
18: 74,433,251 (GRCm39) |
Y112F |
possibly damaging |
Het |
| Cngb1 |
C |
A |
8: 95,986,809 (GRCm39) |
C361F |
probably damaging |
Het |
| Ctf2 |
T |
C |
7: 127,318,685 (GRCm39) |
T105A |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,364,970 (GRCm39) |
T3584S |
probably damaging |
Het |
| Ebf3 |
C |
T |
7: 136,914,896 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,514,265 (GRCm39) |
|
probably benign |
Het |
| Fbxw24 |
T |
C |
9: 109,436,066 (GRCm39) |
E322G |
probably benign |
Het |
| Gm5698 |
G |
T |
1: 31,016,366 (GRCm39) |
D228E |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,059,277 (GRCm39) |
D248E |
probably benign |
Het |
| Insm2 |
T |
C |
12: 55,647,281 (GRCm39) |
S342P |
probably benign |
Het |
| Krt36 |
G |
A |
11: 99,993,654 (GRCm39) |
R395C |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,506,209 (GRCm39) |
S1920P |
probably benign |
Het |
| Lsm14b |
T |
A |
2: 179,673,334 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
G |
2: 121,130,741 (GRCm39) |
E519G |
probably damaging |
Het |
| Mfsd14a |
T |
C |
3: 116,427,543 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b5 |
T |
C |
10: 39,846,419 (GRCm39) |
Y387C |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,154,449 (GRCm39) |
N1063D |
possibly damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,524,217 (GRCm39) |
H421L |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or4a81 |
A |
G |
2: 89,619,675 (GRCm39) |
V7A |
possibly damaging |
Het |
| Pacrg |
A |
T |
17: 10,622,268 (GRCm39) |
Y235* |
probably null |
Het |
| Pde4dip |
T |
A |
3: 97,620,512 (GRCm39) |
D1629V |
possibly damaging |
Het |
| Prl8a2 |
G |
T |
13: 27,537,935 (GRCm39) |
S204I |
possibly damaging |
Het |
| Sec24a |
A |
T |
11: 51,624,294 (GRCm39) |
M356K |
possibly damaging |
Het |
| Sh3tc2 |
A |
C |
18: 62,124,247 (GRCm39) |
S972R |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,456,946 (GRCm39) |
V557M |
probably damaging |
Het |
| Slc2a9 |
A |
G |
5: 38,539,384 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
T |
C |
6: 42,655,612 (GRCm39) |
I455V |
probably benign |
Het |
| Umodl1 |
T |
G |
17: 31,221,772 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
T |
C |
17: 15,112,733 (GRCm39) |
T658A |
probably damaging |
Het |
| Zfp318 |
T |
C |
17: 46,720,618 (GRCm39) |
Y1119H |
possibly damaging |
Het |
| Zfp939 |
C |
A |
7: 39,122,763 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Fbxo17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Fbxo17
|
APN |
7 |
28,434,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03306:Fbxo17
|
APN |
7 |
28,434,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0141:Fbxo17
|
UTSW |
7 |
28,432,916 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0144:Fbxo17
|
UTSW |
7 |
28,434,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0418:Fbxo17
|
UTSW |
7 |
28,432,916 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R3691:Fbxo17
|
UTSW |
7 |
28,436,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4688:Fbxo17
|
UTSW |
7 |
28,431,979 (GRCm39) |
missense |
probably benign |
|
|
R4921:Fbxo17
|
UTSW |
7 |
28,432,214 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5691:Fbxo17
|
UTSW |
7 |
28,436,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5712:Fbxo17
|
UTSW |
7 |
28,436,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5749:Fbxo17
|
UTSW |
7 |
28,436,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5750:Fbxo17
|
UTSW |
7 |
28,436,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8891:Fbxo17
|
UTSW |
7 |
28,434,733 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9020:Fbxo17
|
UTSW |
7 |
28,436,782 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1176:Fbxo17
|
UTSW |
7 |
28,432,202 (GRCm39) |
missense |
unknown |
|
|
Z1186:Fbxo17
|
UTSW |
7 |
28,432,169 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation