Incidental Mutation 'IGL02389:Fbxw8'
ID |
291663 |
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 # |
IGL02389
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
118203046-118293523 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 118267020 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 148
(V148M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049474]
|
AlphaFold |
Q8BIA4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049474
AA Change: V148M
PolyPhen 2
Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000047012 Gene: ENSMUSG00000032867 AA Change: V148M
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
A |
5: 64,053,826 (GRCm39) |
S11N |
probably null |
Het |
Aqp9 |
T |
C |
9: 71,030,188 (GRCm39) |
I200V |
possibly damaging |
Het |
Cntn2 |
T |
C |
1: 132,453,059 (GRCm39) |
E411G |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cstdc5 |
C |
A |
16: 36,187,848 (GRCm39) |
V6F |
possibly damaging |
Het |
Dennd3 |
A |
G |
15: 73,438,905 (GRCm39) |
D1091G |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,589,567 (GRCm39) |
|
probably benign |
Het |
Dscam |
T |
A |
16: 96,442,097 (GRCm39) |
I1577F |
probably benign |
Het |
Egflam |
A |
T |
15: 7,279,559 (GRCm39) |
N482K |
probably benign |
Het |
Fam216a |
T |
C |
5: 122,505,574 (GRCm39) |
T129A |
probably damaging |
Het |
Fbxo40 |
T |
C |
16: 36,790,136 (GRCm39) |
M325V |
probably benign |
Het |
Fcgbp |
C |
T |
7: 27,774,596 (GRCm39) |
R57C |
probably damaging |
Het |
Gnpnat1 |
A |
G |
14: 45,618,388 (GRCm39) |
|
probably null |
Het |
Gria2 |
T |
C |
3: 80,616,729 (GRCm39) |
T408A |
probably benign |
Het |
H2-T3 |
A |
G |
17: 36,497,500 (GRCm39) |
M59T |
probably benign |
Het |
Jakmip1 |
C |
T |
5: 37,258,187 (GRCm39) |
Q278* |
probably null |
Het |
Krtap21-1 |
C |
T |
16: 89,200,312 (GRCm39) |
G110D |
unknown |
Het |
Myo7a |
C |
T |
7: 97,756,198 (GRCm39) |
|
probably null |
Het |
Nlrp9c |
T |
A |
7: 26,093,632 (GRCm39) |
Q11L |
probably benign |
Het |
Or14a257 |
A |
G |
7: 86,138,336 (GRCm39) |
L141P |
probably damaging |
Het |
Or5b94 |
A |
T |
19: 12,651,899 (GRCm39) |
D110V |
probably benign |
Het |
Or6c75 |
T |
A |
10: 129,336,939 (GRCm39) |
M62K |
probably benign |
Het |
Or6c8 |
A |
C |
10: 128,915,099 (GRCm39) |
I244M |
probably damaging |
Het |
Pdzd8 |
A |
G |
19: 59,289,825 (GRCm39) |
I525T |
probably benign |
Het |
Pign |
A |
T |
1: 105,574,506 (GRCm39) |
L280* |
probably null |
Het |
Pik3r4 |
T |
G |
9: 105,527,530 (GRCm39) |
I294M |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
Prmt3 |
C |
T |
7: 49,498,506 (GRCm39) |
Q471* |
probably null |
Het |
Prrc2c |
A |
G |
1: 162,520,439 (GRCm39) |
F2006L |
probably damaging |
Het |
Ptger3 |
C |
T |
3: 157,272,808 (GRCm39) |
R52C |
probably damaging |
Het |
Rfx2 |
T |
C |
17: 57,115,325 (GRCm39) |
|
probably benign |
Het |
Sh3bp4 |
T |
C |
1: 89,072,870 (GRCm39) |
F573L |
probably damaging |
Het |
Slc18a2 |
G |
T |
19: 59,251,733 (GRCm39) |
|
probably benign |
Het |
Slc26a8 |
T |
A |
17: 28,857,624 (GRCm39) |
I840F |
probably benign |
Het |
Slc5a4b |
A |
T |
10: 75,908,299 (GRCm39) |
Y364* |
probably null |
Het |
Slitrk1 |
A |
G |
14: 109,149,754 (GRCm39) |
I319T |
probably benign |
Het |
Stxbp5l |
C |
T |
16: 37,028,567 (GRCm39) |
A499T |
probably benign |
Het |
Tnks2 |
T |
A |
19: 36,861,503 (GRCm39) |
S951R |
probably benign |
Het |
Trim30c |
A |
G |
7: 104,031,381 (GRCm39) |
F478S |
probably benign |
Het |
Tyro3 |
C |
T |
2: 119,635,345 (GRCm39) |
|
probably benign |
Het |
Vmn1r34 |
A |
T |
6: 66,614,042 (GRCm39) |
L232Q |
probably damaging |
Het |
Zfp148 |
T |
A |
16: 33,315,816 (GRCm39) |
C215S |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,782,043 (GRCm39) |
P1995S |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,790,364 (GRCm39) |
V2106D |
possibly 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 |
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 |
IGL03177:Fbxw8
|
APN |
5 |
118,267,045 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-04-16 |