Incidental Mutation 'IGL02672:Fbxw9'
| ID |
302977 |
| 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: 0.083)
|
| Stock # |
IGL02672
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85786748-85793750 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 85792682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095220]
[ENSMUST00000095220]
[ENSMUST00000177563]
|
| AlphaFold |
F8VPX2 |
| Predicted Effect |
probably null
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 |
probably null
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: ENSMUST00000211210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183657
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
| Alpi |
A |
G |
1: 87,028,994 (GRCm39) |
L60P |
probably damaging |
Het |
| Arpc1a |
A |
C |
5: 145,041,697 (GRCm39) |
I327L |
probably damaging |
Het |
| Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
| Dcaf7 |
T |
C |
11: 105,945,684 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
G |
11: 65,818,427 (GRCm39) |
I3304L |
probably benign |
Het |
| Dpp10 |
T |
A |
1: 123,304,376 (GRCm39) |
H508L |
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,767,034 (GRCm39) |
D86G |
probably benign |
Het |
| Enpp7 |
T |
C |
11: 118,883,166 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,829,777 (GRCm39) |
|
probably null |
Het |
| Gas2l2 |
C |
T |
11: 83,315,957 (GRCm39) |
R254H |
probably damaging |
Het |
| Gatad2b |
C |
T |
3: 90,249,198 (GRCm39) |
L79F |
possibly damaging |
Het |
| Igf1r |
A |
T |
7: 67,839,781 (GRCm39) |
D696V |
probably benign |
Het |
| Kcnk5 |
A |
G |
14: 20,196,580 (GRCm39) |
I96T |
probably damaging |
Het |
| Lrrc8c |
C |
T |
5: 105,755,224 (GRCm39) |
T333M |
possibly damaging |
Het |
| Mcm10 |
T |
C |
2: 5,006,092 (GRCm39) |
T417A |
probably benign |
Het |
| Mesp2 |
T |
C |
7: 79,461,145 (GRCm39) |
S157P |
probably benign |
Het |
| Naca |
A |
G |
10: 127,876,152 (GRCm39) |
|
probably benign |
Het |
| Or5t17 |
A |
T |
2: 86,832,417 (GRCm39) |
M35L |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,359,270 (GRCm39) |
T260A |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,435,170 (GRCm39) |
|
probably null |
Het |
| Pdk1 |
T |
C |
2: 71,726,096 (GRCm39) |
S335P |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,668,987 (GRCm39) |
N338S |
probably benign |
Het |
| Pogz |
G |
A |
3: 94,763,410 (GRCm39) |
V61I |
probably benign |
Het |
| Ppp4r1 |
A |
G |
17: 66,147,942 (GRCm39) |
Y928C |
probably damaging |
Het |
| Rab17 |
T |
C |
1: 90,886,940 (GRCm39) |
E160G |
probably damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,803,412 (GRCm39) |
F70Y |
probably benign |
Het |
| Rere |
T |
A |
4: 150,594,483 (GRCm39) |
N364K |
unknown |
Het |
| Ryr1 |
A |
T |
7: 28,703,944 (GRCm39) |
|
probably benign |
Het |
| Sae1 |
A |
G |
7: 16,104,273 (GRCm39) |
V112A |
probably damaging |
Het |
| Serpinb6d |
C |
T |
13: 33,855,372 (GRCm39) |
H349Y |
probably benign |
Het |
| Slc12a1 |
T |
C |
2: 125,012,596 (GRCm39) |
V286A |
probably damaging |
Het |
| Smad3 |
A |
T |
9: 63,575,009 (GRCm39) |
|
probably null |
Het |
| Sox8 |
T |
A |
17: 25,787,963 (GRCm39) |
D162V |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,087,239 (GRCm39) |
F1067L |
probably damaging |
Het |
| Tmprss3 |
T |
C |
17: 31,409,981 (GRCm39) |
Y211C |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,409,166 (GRCm38) |
|
probably benign |
Het |
| Tpp1 |
A |
T |
7: 105,396,168 (GRCm39) |
H510Q |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,218,587 (GRCm39) |
|
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,376 (GRCm39) |
I651N |
probably benign |
Het |
| Wdr25 |
A |
T |
12: 108,864,007 (GRCm39) |
K51* |
probably null |
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 |
|
IGL01108:Fbxw9
|
APN |
8 |
85,792,606 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01633:Fbxw9
|
APN |
8 |
85,791,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation