Incidental Mutation 'IGL03177:Fbxw8'
ID |
412061 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxw8
|
Ensembl Gene |
ENSMUSG00000032867 |
Gene Name |
F-box and WD-40 domain protein 8 |
Synonyms |
4930438M06Rik, Fbx29, FBXO29, FBW6, FBW8 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.546)
|
Stock # |
IGL03177
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
118203046-118293523 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 118267045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049474]
|
AlphaFold |
Q8BIA4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049474
|
SMART Domains |
Protein: ENSMUSP00000047012 Gene: ENSMUSG00000032867
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
39 |
N/A |
INTRINSIC |
low complexity region
|
51 |
75 |
N/A |
INTRINSIC |
low complexity region
|
76 |
91 |
N/A |
INTRINSIC |
FBOX
|
119 |
159 |
5e-5 |
SMART |
WD40
|
198 |
236 |
6.16e0 |
SMART |
WD40
|
248 |
285 |
7.1e1 |
SMART |
WD40
|
289 |
327 |
7.36e1 |
SMART |
Blast:WD40
|
373 |
418 |
2e-8 |
BLAST |
WD40
|
421 |
461 |
1.6e0 |
SMART |
WD40
|
464 |
501 |
2.15e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201545
|
Coding Region Coverage |
|
Validation Efficiency |
|
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, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three 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 contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele display partial late embryonic lethality with embryonic growth retardation and abnormal placental morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg2 |
T |
C |
X: 159,221,259 (GRCm39) |
I23T |
possibly damaging |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Anxa7 |
T |
C |
14: 20,506,654 (GRCm39) |
I451V |
probably benign |
Het |
Capn10 |
T |
C |
1: 92,862,704 (GRCm39) |
F37L |
probably benign |
Het |
Cyp4f13 |
A |
G |
17: 33,165,888 (GRCm39) |
I30T |
possibly damaging |
Het |
Ddx27 |
A |
G |
2: 166,869,840 (GRCm39) |
N392D |
possibly damaging |
Het |
Dhx30 |
T |
C |
9: 109,917,078 (GRCm39) |
H479R |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,295,545 (GRCm39) |
Y1426C |
probably damaging |
Het |
Dnajc2 |
A |
G |
5: 21,980,079 (GRCm39) |
|
probably benign |
Het |
Grik5 |
G |
A |
7: 24,714,879 (GRCm39) |
T705I |
probably damaging |
Het |
H2ac4 |
T |
A |
13: 23,935,509 (GRCm39) |
|
probably benign |
Het |
H2-M3 |
G |
T |
17: 37,581,207 (GRCm39) |
V19F |
possibly damaging |
Het |
Hapln2 |
C |
A |
3: 87,930,078 (GRCm39) |
C266F |
probably damaging |
Het |
Hspbp1 |
A |
T |
7: 4,667,700 (GRCm39) |
|
probably null |
Het |
Jak3 |
T |
A |
8: 72,135,014 (GRCm39) |
V549D |
probably damaging |
Het |
Mark1 |
A |
G |
1: 184,677,104 (GRCm39) |
S49P |
probably damaging |
Het |
Mdfic |
T |
C |
6: 15,770,450 (GRCm39) |
V152A |
probably damaging |
Het |
Mgat4a |
C |
A |
1: 37,483,968 (GRCm39) |
V501L |
probably damaging |
Het |
Mlxip |
C |
A |
5: 123,584,044 (GRCm39) |
P536T |
possibly damaging |
Het |
Mrpl2 |
A |
T |
17: 46,959,963 (GRCm39) |
T213S |
probably damaging |
Het |
Nos1ap |
C |
A |
1: 170,218,299 (GRCm39) |
|
probably null |
Het |
Or4a74 |
C |
T |
2: 89,439,826 (GRCm39) |
V207I |
probably benign |
Het |
Or6c1b |
T |
C |
10: 129,272,684 (GRCm39) |
M1T |
probably null |
Het |
Or8b50 |
T |
A |
9: 38,517,867 (GRCm39) |
Y35* |
probably null |
Het |
P2rx2 |
T |
C |
5: 110,489,479 (GRCm39) |
I251V |
probably damaging |
Het |
Parva |
T |
A |
7: 112,172,140 (GRCm39) |
|
probably benign |
Het |
Phf10 |
G |
A |
17: 15,166,493 (GRCm39) |
T459I |
probably damaging |
Het |
Prg4 |
T |
A |
1: 150,331,354 (GRCm39) |
|
probably benign |
Het |
Pum3 |
A |
T |
19: 27,367,612 (GRCm39) |
I639N |
probably benign |
Het |
Rlf |
T |
A |
4: 121,005,276 (GRCm39) |
K1235* |
probably null |
Het |
Ryr3 |
T |
A |
2: 112,859,016 (GRCm39) |
I46F |
probably benign |
Het |
Sall3 |
A |
G |
18: 81,016,183 (GRCm39) |
S582P |
probably benign |
Het |
Scn3b |
A |
C |
9: 40,181,338 (GRCm39) |
Y17S |
probably benign |
Het |
Senp8 |
A |
G |
9: 59,644,611 (GRCm39) |
C169R |
probably damaging |
Het |
Sgsm1 |
C |
T |
5: 113,398,859 (GRCm39) |
A1025T |
probably damaging |
Het |
Six1 |
T |
C |
12: 73,090,514 (GRCm39) |
E217G |
possibly damaging |
Het |
Slc38a8 |
T |
C |
8: 120,212,251 (GRCm39) |
D364G |
probably damaging |
Het |
Stk10 |
A |
T |
11: 32,564,592 (GRCm39) |
E801V |
probably damaging |
Het |
Ston2 |
A |
T |
12: 91,614,431 (GRCm39) |
I659N |
probably damaging |
Het |
Stxbp4 |
T |
C |
11: 90,462,579 (GRCm39) |
Q331R |
probably benign |
Het |
Synpo2 |
A |
T |
3: 122,914,864 (GRCm39) |
V54E |
probably damaging |
Het |
Tax1bp1 |
A |
G |
6: 52,713,932 (GRCm39) |
D237G |
possibly damaging |
Het |
Tmigd1 |
T |
C |
11: 76,797,774 (GRCm39) |
Y39H |
probably benign |
Het |
Vmn1r15 |
A |
G |
6: 57,235,458 (GRCm39) |
T109A |
probably benign |
Het |
Vmn1r209 |
T |
C |
13: 22,990,024 (GRCm39) |
Y222C |
possibly damaging |
Het |
Zfp809 |
A |
G |
9: 22,146,347 (GRCm39) |
D12G |
probably damaging |
Het |
|
Other mutations in Fbxw8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00272:Fbxw8
|
APN |
5 |
118,206,162 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00435:Fbxw8
|
APN |
5 |
118,206,202 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00674:Fbxw8
|
APN |
5 |
118,233,658 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01306:Fbxw8
|
APN |
5 |
118,251,785 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02389:Fbxw8
|
APN |
5 |
118,267,020 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02438:Fbxw8
|
APN |
5 |
118,233,758 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02553:Fbxw8
|
APN |
5 |
118,204,125 (GRCm39) |
unclassified |
probably benign |
|
IGL02752:Fbxw8
|
APN |
5 |
118,280,815 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02975:Fbxw8
|
APN |
5 |
118,215,760 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03333:Fbxw8
|
APN |
5 |
118,233,660 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03407:Fbxw8
|
APN |
5 |
118,280,741 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU23:Fbxw8
|
UTSW |
5 |
118,251,785 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0135:Fbxw8
|
UTSW |
5 |
118,208,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R0760:Fbxw8
|
UTSW |
5 |
118,203,966 (GRCm39) |
splice site |
probably null |
|
R1115:Fbxw8
|
UTSW |
5 |
118,215,636 (GRCm39) |
splice site |
probably benign |
|
R1498:Fbxw8
|
UTSW |
5 |
118,203,850 (GRCm39) |
unclassified |
probably benign |
|
R1689:Fbxw8
|
UTSW |
5 |
118,215,682 (GRCm39) |
missense |
probably damaging |
0.97 |
R1897:Fbxw8
|
UTSW |
5 |
118,266,941 (GRCm39) |
missense |
probably benign |
0.16 |
R2160:Fbxw8
|
UTSW |
5 |
118,263,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R2345:Fbxw8
|
UTSW |
5 |
118,203,872 (GRCm39) |
unclassified |
probably benign |
|
R3743:Fbxw8
|
UTSW |
5 |
118,251,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R3935:Fbxw8
|
UTSW |
5 |
118,233,783 (GRCm39) |
missense |
probably benign |
0.38 |
R4910:Fbxw8
|
UTSW |
5 |
118,263,092 (GRCm39) |
splice site |
probably null |
|
R5220:Fbxw8
|
UTSW |
5 |
118,233,776 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5628:Fbxw8
|
UTSW |
5 |
118,230,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R6161:Fbxw8
|
UTSW |
5 |
118,230,740 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6184:Fbxw8
|
UTSW |
5 |
118,251,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R6582:Fbxw8
|
UTSW |
5 |
118,263,028 (GRCm39) |
missense |
probably benign |
0.28 |
R6617:Fbxw8
|
UTSW |
5 |
118,280,731 (GRCm39) |
critical splice donor site |
probably null |
|
R6785:Fbxw8
|
UTSW |
5 |
118,230,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R7363:Fbxw8
|
UTSW |
5 |
118,263,057 (GRCm39) |
missense |
probably damaging |
0.97 |
R7395:Fbxw8
|
UTSW |
5 |
118,206,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R7674:Fbxw8
|
UTSW |
5 |
118,263,036 (GRCm39) |
nonsense |
probably null |
|
R8428:Fbxw8
|
UTSW |
5 |
118,215,763 (GRCm39) |
missense |
probably benign |
0.02 |
R9161:Fbxw8
|
UTSW |
5 |
118,251,727 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2016-08-02 |