Incidental Mutation 'IGL02752:Fbxw8'
| ID |
304211 |
| 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: 0.520)
|
| Stock # |
IGL02752
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
118203046-118293523 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118280815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 114
(F114S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049474]
|
| AlphaFold |
Q8BIA4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049474
AA Change: F114S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047012
Gene: ENSMUSG00000032867
AA Change: F114S
| 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 |
|---|
| 5031439G07Rik |
C |
A |
15: 84,840,042 (GRCm39) |
E145* |
probably null |
Het |
| Abca9 |
A |
G |
11: 110,018,194 (GRCm39) |
F1142S |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,973,806 (GRCm39) |
T2503A |
possibly damaging |
Het |
| Bpi |
A |
G |
2: 158,104,344 (GRCm39) |
D149G |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,508,261 (GRCm39) |
T1258A |
probably benign |
Het |
| Col4a3 |
A |
G |
1: 82,637,946 (GRCm39) |
D256G |
unknown |
Het |
| Cul5 |
T |
C |
9: 53,546,278 (GRCm39) |
T338A |
probably damaging |
Het |
| Efs |
A |
G |
14: 55,154,880 (GRCm39) |
V453A |
probably damaging |
Het |
| Fbxw19 |
T |
A |
9: 109,323,709 (GRCm39) |
N89Y |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,917,338 (GRCm38) |
I1606V |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,831,638 (GRCm39) |
T913A |
possibly damaging |
Het |
| Gtf2f1 |
A |
T |
17: 57,316,682 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,387,678 (GRCm39) |
*1059L |
probably null |
Het |
| Hmgb4 |
T |
C |
4: 128,154,134 (GRCm39) |
K145E |
probably damaging |
Het |
| Igf2bp2 |
T |
A |
16: 21,898,860 (GRCm39) |
M250L |
probably benign |
Het |
| Igkv14-111 |
A |
G |
6: 68,233,561 (GRCm39) |
K21E |
probably benign |
Het |
| Il6st |
C |
T |
13: 112,616,729 (GRCm39) |
T92I |
probably damaging |
Het |
| Jak3 |
G |
T |
8: 72,135,595 (GRCm39) |
V581L |
possibly damaging |
Het |
| Kank2 |
C |
T |
9: 21,706,329 (GRCm39) |
V230M |
probably damaging |
Het |
| Kif1a |
G |
A |
1: 92,967,569 (GRCm39) |
A1123V |
possibly damaging |
Het |
| Kpna4 |
T |
A |
3: 69,002,863 (GRCm39) |
R125* |
probably null |
Het |
| Mybpc3 |
A |
T |
2: 90,962,982 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
T |
C |
10: 93,546,421 (GRCm39) |
V358A |
possibly damaging |
Het |
| Pacsin1 |
A |
T |
17: 27,921,672 (GRCm39) |
|
probably null |
Het |
| Pcsk2 |
A |
G |
2: 143,615,865 (GRCm39) |
N221S |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,254,262 (GRCm39) |
L575P |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,623,815 (GRCm39) |
V760E |
possibly damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,630,542 (GRCm39) |
|
probably null |
Het |
| Ppfia1 |
T |
C |
7: 144,073,341 (GRCm39) |
T217A |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,816,852 (GRCm39) |
T1375A |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,161,756 (GRCm39) |
I264T |
probably damaging |
Het |
| Sez6l2 |
T |
C |
7: 126,552,905 (GRCm39) |
S164P |
probably damaging |
Het |
| Slc31a1 |
C |
T |
4: 62,303,869 (GRCm39) |
|
probably benign |
Het |
| Slc45a1 |
T |
C |
4: 150,722,478 (GRCm39) |
N469D |
probably benign |
Het |
| Slco1a5 |
T |
C |
6: 142,208,438 (GRCm39) |
T76A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stfa3 |
G |
A |
16: 36,270,999 (GRCm39) |
T95I |
probably damaging |
Het |
| Stk11ip |
A |
C |
1: 75,501,325 (GRCm39) |
|
probably null |
Het |
| Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
| Traf1 |
A |
G |
2: 34,848,020 (GRCm39) |
S25P |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,622,125 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,798,283 (GRCm39) |
I2041N |
probably damaging |
Het |
| Zfp512b |
A |
T |
2: 181,229,864 (GRCm39) |
D556E |
possibly damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,965,415 (GRCm39) |
D633E |
probably benign |
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 |
|
|
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 |
Incidental Mutation