Incidental Mutation 'R5220:Fbxw8'
| ID |
402263 |
| 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 |
042793-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.520)
|
| Stock # |
R5220 (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 C
at 118233776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 285
(D285G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049474]
|
| AlphaFold |
Q8BIA4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049474
AA Change: D285G
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047012
Gene: ENSMUSG00000032867
AA Change: D285G
| 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: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,738,045 (GRCm39) |
E250G |
probably damaging |
Het |
| Adgra1 |
A |
G |
7: 139,455,512 (GRCm39) |
N380S |
probably benign |
Het |
| Ap3d1 |
G |
A |
10: 80,563,001 (GRCm39) |
P160L |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,162,372 (GRCm39) |
V505M |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,543,102 (GRCm39) |
I747F |
probably damaging |
Het |
| Clec2g |
A |
G |
6: 128,958,269 (GRCm39) |
S100G |
probably benign |
Het |
| Cmya5 |
G |
T |
13: 93,228,804 (GRCm39) |
P2095T |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,373,909 (GRCm39) |
W445R |
possibly damaging |
Het |
| Espl1 |
T |
A |
15: 102,207,012 (GRCm39) |
L159M |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,916,222 (GRCm39) |
R3419W |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,197,672 (GRCm39) |
|
probably null |
Het |
| Ghdc |
T |
C |
11: 100,660,543 (GRCm39) |
E110G |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,325,562 (GRCm39) |
T309A |
probably benign |
Het |
| Helb |
A |
C |
10: 119,937,391 (GRCm39) |
F618V |
probably damaging |
Het |
| Hycc1 |
A |
C |
5: 24,170,220 (GRCm39) |
S376R |
possibly damaging |
Het |
| Ifi211 |
A |
G |
1: 173,735,262 (GRCm39) |
F56L |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,950,160 (GRCm39) |
F1988L |
probably damaging |
Het |
| Mapk13 |
G |
A |
17: 28,997,465 (GRCm39) |
S361N |
probably benign |
Het |
| Mapk3 |
A |
G |
7: 126,363,408 (GRCm39) |
I146V |
probably benign |
Het |
| Megf6 |
G |
A |
4: 154,338,295 (GRCm39) |
|
probably null |
Het |
| Mug1 |
G |
T |
6: 121,838,092 (GRCm39) |
V441F |
probably benign |
Het |
| Mymk |
A |
G |
2: 26,952,226 (GRCm39) |
S173P |
probably benign |
Het |
| Nox4 |
A |
G |
7: 87,023,616 (GRCm39) |
T501A |
possibly damaging |
Het |
| Or13c7 |
C |
A |
4: 43,854,624 (GRCm39) |
S105Y |
possibly damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or52n2 |
T |
C |
7: 104,542,104 (GRCm39) |
T244A |
possibly damaging |
Het |
| Prkcb |
C |
A |
7: 121,888,678 (GRCm39) |
H37Q |
probably damaging |
Het |
| Rabggtb |
A |
G |
3: 153,615,024 (GRCm39) |
F189L |
probably damaging |
Het |
| Setd1b |
T |
C |
5: 123,281,471 (GRCm39) |
I75T |
unknown |
Het |
| Slc10a5 |
T |
A |
3: 10,400,148 (GRCm39) |
R171* |
probably null |
Het |
| Slc12a4 |
A |
G |
8: 106,680,484 (GRCm39) |
F211L |
probably damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,527,759 (GRCm39) |
W352R |
probably damaging |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| St8sia4 |
A |
G |
1: 95,555,460 (GRCm39) |
M190T |
probably damaging |
Het |
| Tmeff2 |
A |
G |
1: 51,018,476 (GRCm39) |
M153V |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,796,696 (GRCm39) |
T279A |
probably damaging |
Het |
| Ubn1 |
G |
T |
16: 4,895,818 (GRCm39) |
A955S |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,239,500 (GRCm39) |
H1147Q |
possibly damaging |
Het |
| Vrk1 |
T |
A |
12: 106,039,865 (GRCm39) |
|
probably null |
Het |
| Zdhhc25 |
T |
A |
15: 88,485,365 (GRCm39) |
Y233* |
probably null |
Het |
| Zfp109 |
A |
G |
7: 23,928,179 (GRCm39) |
V418A |
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 |
|
|
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 |
|
|
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'- AGGGTCCTCTGAATGCAAAC -3'
(R):5'- CTGCTGATGTCAGACAGAATGC -3'
Sequencing Primer
(F):5'- AGTAAGCGCTCACCAGCTTCTG -3'
(R):5'- CTGATGTCAGACAGAATGCTGACTAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation