Incidental Mutation 'R3935:Fbxw8'
| ID |
307126 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.546)
|
| Stock # |
R3935 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
118203046-118293523 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 118233783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 283
(I283L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049474]
|
| AlphaFold |
Q8BIA4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049474
AA Change: I283L
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000047012
Gene: ENSMUSG00000032867
AA Change: I283L
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,457,984 (GRCm39) |
D83G |
probably damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,092,823 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Dsc1 |
T |
A |
18: 20,230,298 (GRCm39) |
T336S |
probably benign |
Het |
| Elk3 |
A |
G |
10: 93,101,035 (GRCm39) |
S239P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,475 (GRCm39) |
I263F |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Gpr176 |
A |
G |
2: 118,109,777 (GRCm39) |
V494A |
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Hoxd11 |
A |
G |
2: 74,514,376 (GRCm39) |
N302S |
probably benign |
Het |
| Iqgap1 |
T |
G |
7: 80,393,585 (GRCm39) |
Y664S |
possibly damaging |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,321,617 (GRCm39) |
N1101D |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,075,761 (GRCm39) |
L376P |
probably damaging |
Het |
| Lztr1 |
T |
A |
16: 17,340,059 (GRCm39) |
Y93* |
probably null |
Het |
| Nrip1 |
A |
G |
16: 76,091,323 (GRCm39) |
M78T |
possibly damaging |
Het |
| P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Prg4 |
A |
G |
1: 150,333,908 (GRCm39) |
I152T |
possibly damaging |
Het |
| Prss36 |
A |
G |
7: 127,533,780 (GRCm39) |
L8P |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,177,150 (GRCm39) |
V2930A |
probably damaging |
Het |
| Ptchd4 |
G |
C |
17: 42,814,380 (GRCm39) |
L760F |
possibly damaging |
Het |
| Rbms3 |
A |
G |
9: 116,465,459 (GRCm39) |
L163P |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
T |
A |
3: 15,613,843 (GRCm39) |
T80S |
probably benign |
Het |
| Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,180,570 (GRCm39) |
E411G |
probably benign |
Het |
| Ssu72 |
C |
T |
4: 155,789,876 (GRCm39) |
S13L |
probably benign |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tmem80 |
T |
C |
7: 140,913,938 (GRCm39) |
Y30H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCAGGGTCCTCTGAATG -3'
(R):5'- TGCTGATGTCAGACAGAATGC -3'
Sequencing Primer
(F):5'- GCTTCTGAACTTCAAACTCCGAGG -3'
(R):5'- CTGATGTCAGACAGAATGCTGACTAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation