Incidental Mutation 'IGL01108:Fbxw9'
| ID |
51779 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxw9
|
| Ensembl Gene |
ENSMUSG00000008167 |
| Gene Name |
F-box and WD-40 domain protein 9 |
| Synonyms |
Fbw9, 1110017H11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL01108
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85786748-85793750 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 85792606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095220]
[ENSMUST00000177563]
|
| AlphaFold |
F8VPX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095220
|
| SMART Domains |
Protein: ENSMUSP00000092845
Gene: ENSMUSG00000008167
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
FBOX
|
82 |
123 |
7.47e-4 |
SMART |
|
WD40
|
161 |
201 |
2.98e-1 |
SMART |
|
WD40
|
210 |
252 |
4.55e-3 |
SMART |
|
WD40
|
256 |
292 |
7.8e-2 |
SMART |
|
WD40
|
296 |
333 |
1.03e0 |
SMART |
|
WD40
|
377 |
415 |
2.57e0 |
SMART |
|
Blast:WD40
|
419 |
455 |
8e-17 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125109
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183657
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211210
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177563
|
| SMART Domains |
Protein: ENSMUSP00000136655
Gene: ENSMUSG00000095845
| Domain | Start | End | E-Value | Type |
|---|
|
G_gamma
|
7 |
72 |
2.19e-22 |
SMART |
|
GGL
|
11 |
72 |
6.32e-27 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah2 |
A |
G |
19: 31,986,081 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,963,516 (GRCm39) |
I856T |
probably benign |
Het |
| Cblb |
T |
A |
16: 51,867,814 (GRCm39) |
|
probably null |
Het |
| Cpq |
A |
G |
15: 33,497,433 (GRCm39) |
Q391R |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,740,806 (GRCm39) |
T4127S |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,176,771 (GRCm39) |
S63P |
possibly damaging |
Het |
| Ercc3 |
T |
C |
18: 32,397,638 (GRCm39) |
V623A |
probably damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,508,922 (GRCm39) |
S133R |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,461,922 (GRCm39) |
A307T |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,132,487 (GRCm39) |
K186R |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,664,903 (GRCm39) |
E596G |
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,314,659 (GRCm39) |
I188V |
probably benign |
Het |
| Klhl18 |
A |
T |
9: 110,257,754 (GRCm39) |
M492K |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,835,563 (GRCm39) |
T545A |
probably damaging |
Het |
| Mgrn1 |
G |
T |
16: 4,734,019 (GRCm39) |
|
probably null |
Het |
| Mideas |
T |
C |
12: 84,220,465 (GRCm39) |
E163G |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,259,339 (GRCm39) |
V529A |
probably benign |
Het |
| Or13f5 |
C |
T |
4: 52,825,727 (GRCm39) |
T110I |
probably damaging |
Het |
| Parp4 |
T |
G |
14: 56,844,897 (GRCm39) |
I596S |
probably benign |
Het |
| Plppr3 |
T |
A |
10: 79,703,355 (GRCm39) |
D43V |
probably damaging |
Het |
| Prss51 |
A |
T |
14: 64,333,433 (GRCm39) |
K14I |
probably damaging |
Het |
| Prss58 |
A |
G |
6: 40,874,278 (GRCm39) |
C133R |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,788,007 (GRCm39) |
N437K |
probably benign |
Het |
| Samd10 |
A |
G |
2: 181,239,007 (GRCm39) |
Y135H |
probably damaging |
Het |
| Scnn1b |
G |
T |
7: 121,513,555 (GRCm39) |
|
probably null |
Het |
| Serpina7 |
C |
T |
X: 137,983,886 (GRCm39) |
V58I |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,273,594 (GRCm39) |
|
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Urb1 |
C |
T |
16: 90,589,702 (GRCm39) |
A360T |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,595,022 (GRCm39) |
R3818L |
probably benign |
Het |
| Vmn2r57 |
C |
T |
7: 41,077,008 (GRCm39) |
R386K |
probably benign |
Het |
| Wnt3a |
T |
C |
11: 59,147,135 (GRCm39) |
N184D |
probably benign |
Het |
| Xpc |
G |
A |
6: 91,469,987 (GRCm39) |
R746W |
probably damaging |
Het |
|
| Other mutations in Fbxw9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00541:Fbxw9
|
APN |
8 |
85,793,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01633:Fbxw9
|
APN |
8 |
85,791,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02672:Fbxw9
|
APN |
8 |
85,792,682 (GRCm39) |
splice site |
probably null |
|
|
R0053:Fbxw9
|
UTSW |
8 |
85,791,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Fbxw9
|
UTSW |
8 |
85,791,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0535:Fbxw9
|
UTSW |
8 |
85,791,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0961:Fbxw9
|
UTSW |
8 |
85,788,658 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1171:Fbxw9
|
UTSW |
8 |
85,792,707 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2371:Fbxw9
|
UTSW |
8 |
85,788,658 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4472:Fbxw9
|
UTSW |
8 |
85,786,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4864:Fbxw9
|
UTSW |
8 |
85,792,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Fbxw9
|
UTSW |
8 |
85,786,785 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5236:Fbxw9
|
UTSW |
8 |
85,792,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5771:Fbxw9
|
UTSW |
8 |
85,791,201 (GRCm39) |
splice site |
probably null |
|
|
R6670:Fbxw9
|
UTSW |
8 |
85,788,839 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6861:Fbxw9
|
UTSW |
8 |
85,792,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7354:Fbxw9
|
UTSW |
8 |
85,788,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9222:Fbxw9
|
UTSW |
8 |
85,788,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9776:Fbxw9
|
UTSW |
8 |
85,792,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-06-21 |
Incidental Mutation