Incidental Mutation 'R6582:Fbxw8'
ID |
524142 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw8
|
Ensembl Gene |
ENSMUSG00000032867 |
Gene Name |
F-box and WD-40 domain protein 8 |
Synonyms |
4930438M06Rik, Fbx29, FBXO29, FBW6, FBW8 |
MMRRC Submission |
044706-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.546)
|
Stock # |
R6582 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
118203046-118293523 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 118263028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 217
(R217L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049474]
|
AlphaFold |
Q8BIA4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049474
AA Change: R217L
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000047012 Gene: ENSMUSG00000032867 AA Change: R217L
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
100% (40/40) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,297,384 (GRCm39) |
T2369A |
probably benign |
Het |
Abhd6 |
T |
G |
14: 8,042,828 (GRCm38) |
|
probably null |
Het |
Abhd6 |
G |
T |
14: 8,042,826 (GRCm38) |
G128C |
probably damaging |
Het |
Acsm3 |
A |
G |
7: 119,378,896 (GRCm39) |
E426G |
probably benign |
Het |
Ankrd11 |
T |
C |
8: 123,618,368 (GRCm39) |
D1828G |
probably benign |
Het |
Asmt |
T |
A |
X: 169,108,766 (GRCm39) |
|
probably null |
Het |
Casp4 |
A |
G |
9: 5,324,884 (GRCm39) |
Q232R |
probably benign |
Het |
Cenpt |
A |
T |
8: 106,575,833 (GRCm39) |
L171* |
probably null |
Het |
Chd3 |
AGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGG |
11: 69,259,982 (GRCm39) |
|
probably benign |
Het |
Col5a2 |
G |
T |
1: 45,429,275 (GRCm39) |
H948N |
possibly damaging |
Het |
Dnah9 |
G |
T |
11: 65,951,923 (GRCm39) |
H1859N |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,664,104 (GRCm39) |
R1993Q |
probably benign |
Het |
Flnb |
T |
G |
14: 7,892,275 (GRCm38) |
|
probably null |
Het |
Fyb2 |
A |
G |
4: 104,802,739 (GRCm39) |
N214D |
probably benign |
Het |
Gbp2b |
A |
G |
3: 142,316,801 (GRCm39) |
E484G |
possibly damaging |
Het |
Gzmk |
A |
G |
13: 113,317,045 (GRCm39) |
Y45H |
probably damaging |
Het |
Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
Kcnj6 |
A |
G |
16: 94,633,685 (GRCm39) |
V142A |
possibly damaging |
Het |
Klri2 |
A |
T |
6: 129,716,096 (GRCm39) |
I81K |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,710,897 (GRCm39) |
V3144E |
probably damaging |
Het |
Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
Mbd3l1 |
T |
C |
9: 18,396,024 (GRCm39) |
Y50H |
probably benign |
Het |
Mcat |
T |
C |
15: 83,433,383 (GRCm39) |
N220S |
probably benign |
Het |
Muc2 |
A |
G |
7: 141,282,941 (GRCm39) |
E81G |
probably benign |
Het |
Neto1 |
A |
T |
18: 86,512,985 (GRCm39) |
K327* |
probably null |
Het |
Or10j3 |
G |
T |
1: 173,031,847 (GRCm39) |
R308L |
probably benign |
Het |
Or4a67 |
A |
T |
2: 88,598,587 (GRCm39) |
L24Q |
probably damaging |
Het |
Or52p1 |
A |
T |
7: 104,267,648 (GRCm39) |
Y254F |
probably damaging |
Het |
Or52u1 |
T |
C |
7: 104,237,218 (GRCm39) |
L69P |
probably damaging |
Het |
Pidd1 |
A |
T |
7: 141,019,494 (GRCm39) |
V722D |
probably damaging |
Het |
Ppp2r2a |
G |
T |
14: 67,257,253 (GRCm39) |
H326N |
probably damaging |
Het |
Smarca5 |
G |
A |
8: 81,446,281 (GRCm39) |
T473I |
probably damaging |
Het |
Spg11 |
C |
A |
2: 121,922,773 (GRCm39) |
W892L |
probably damaging |
Het |
Tas2r110 |
T |
A |
6: 132,845,248 (GRCm39) |
I93N |
possibly damaging |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Vmn1r71 |
T |
A |
7: 10,482,608 (GRCm39) |
I27F |
probably benign |
Het |
Vsnl1 |
A |
G |
12: 11,376,489 (GRCm39) |
V132A |
probably benign |
Het |
Wdsub1 |
T |
C |
2: 59,708,652 (GRCm39) |
T74A |
probably damaging |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTTCTCACTTAGGAGACACAC -3'
(R):5'- ACTGACTGGAATGTGGTGCG -3'
Sequencing Primer
(F):5'- TTCTCACTTAGGAGACACACAAATG -3'
(R):5'- AGAGCATGTTACTGGGGA -3'
|
Posted On |
2018-06-22 |