Incidental Mutation 'IGL03160:Fbxo3'
| ID |
411370 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo3
|
| Ensembl Gene |
ENSMUSG00000027180 |
| Gene Name |
F-box protein 3 |
| Synonyms |
Fba, 1700026K02Rik, 1200002G09Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.693)
|
| Stock # |
IGL03160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
103858144-103893582 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 103860692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 36
(C36*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028603]
[ENSMUST00000056170]
[ENSMUST00000102565]
[ENSMUST00000111135]
[ENSMUST00000111136]
|
| AlphaFold |
Q9DC63 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028603
AA Change: C36*
|
| SMART Domains |
Protein: ENSMUSP00000028603
Gene: ENSMUSG00000027180
AA Change: C36*
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
16 |
56 |
2.83e-4 |
SMART |
|
SMI1_KNR4
|
121 |
251 |
3.02e-5 |
SMART |
|
Pfam:DUF525
|
294 |
384 |
3.1e-30 |
PFAM |
|
coiled coil region
|
417 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056170
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102565
AA Change: C36*
|
| SMART Domains |
Protein: ENSMUSP00000099625
Gene: ENSMUSG00000027180
AA Change: C36*
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
16 |
56 |
2.83e-4 |
SMART |
|
SMI1_KNR4
|
121 |
251 |
3.02e-5 |
SMART |
|
Pfam:DUF525
|
293 |
385 |
1.8e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111135
|
| SMART Domains |
Protein: ENSMUSP00000106765
Gene: ENSMUSG00000027180
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fs1a1
|
14 |
48 |
4e-3 |
SMART |
|
Blast:FBOX
|
16 |
51 |
2e-13 |
BLAST |
|
SMI1_KNR4
|
116 |
246 |
3.02e-5 |
SMART |
|
Pfam:DUF525
|
288 |
380 |
1.7e-29 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111136
AA Change: C36*
|
| SMART Domains |
Protein: ENSMUSP00000106766
Gene: ENSMUSG00000027180
AA Change: C36*
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
16 |
56 |
2.83e-4 |
SMART |
|
SMI1_KNR4
|
121 |
251 |
3.02e-5 |
SMART |
|
Pfam:DUF525
|
293 |
361 |
1.2e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123966
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143799
|
| Coding Region Coverage |
|
| 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 which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 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 belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants diverging at the 3' end. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
C |
13: 111,392,462 (GRCm39) |
S266P |
probably benign |
Het |
| Agrn |
A |
T |
4: 156,254,820 (GRCm39) |
F1525Y |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,380,165 (GRCm39) |
V2165A |
probably damaging |
Het |
| Ccn6 |
T |
C |
10: 39,029,233 (GRCm39) |
T232A |
probably damaging |
Het |
| Cd109 |
G |
T |
9: 78,568,338 (GRCm39) |
|
probably null |
Het |
| Cdhr4 |
A |
C |
9: 107,873,068 (GRCm39) |
T339P |
probably benign |
Het |
| Chek1 |
T |
C |
9: 36,633,941 (GRCm39) |
H128R |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,365,427 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,998,880 (GRCm39) |
F1056S |
probably damaging |
Het |
| Eml3 |
A |
T |
19: 8,912,319 (GRCm39) |
Q372L |
probably benign |
Het |
| Fam161b |
T |
C |
12: 84,400,599 (GRCm39) |
T458A |
probably benign |
Het |
| Gm28042 |
T |
A |
2: 119,866,309 (GRCm39) |
I369N |
possibly damaging |
Het |
| Gpc1 |
A |
G |
1: 92,785,579 (GRCm39) |
Y423C |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,931,279 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,397,942 (GRCm39) |
Y290F |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,562,670 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
A |
T |
7: 139,500,605 (GRCm39) |
K657* |
probably null |
Het |
| Lama5 |
T |
C |
2: 179,822,128 (GRCm39) |
T2927A |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,622,103 (GRCm39) |
N345I |
probably damaging |
Het |
| Mtbp |
T |
C |
15: 55,484,013 (GRCm39) |
|
probably benign |
Het |
| Muc1 |
G |
A |
3: 89,140,331 (GRCm39) |
V608I |
possibly damaging |
Het |
| Or56a3 |
A |
G |
7: 104,735,520 (GRCm39) |
N199S |
probably damaging |
Het |
| P2ry13 |
A |
G |
3: 59,117,496 (GRCm39) |
L94P |
probably damaging |
Het |
| Retreg3 |
G |
T |
11: 100,990,501 (GRCm39) |
Q89K |
probably benign |
Het |
| Rhoq |
A |
C |
17: 87,304,349 (GRCm39) |
Y160S |
probably damaging |
Het |
| Samd9l |
A |
T |
6: 3,374,894 (GRCm39) |
V789D |
probably damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,502,472 (GRCm39) |
S275P |
probably damaging |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Snapc1 |
T |
A |
12: 74,016,978 (GRCm39) |
H205Q |
probably damaging |
Het |
| Stard3 |
G |
T |
11: 98,269,737 (GRCm39) |
R352L |
probably damaging |
Het |
| Stat5a |
A |
G |
11: 100,752,671 (GRCm39) |
I85V |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 49,099,453 (GRCm39) |
D117E |
probably benign |
Het |
| Tg |
T |
A |
15: 66,711,152 (GRCm39) |
C971* |
probably null |
Het |
| Tnrc6c |
T |
A |
11: 117,640,651 (GRCm39) |
|
probably benign |
Het |
| Tra2a |
C |
T |
6: 49,240,798 (GRCm39) |
V4I |
possibly damaging |
Het |
| Trim54 |
C |
T |
5: 31,289,424 (GRCm39) |
T145I |
probably damaging |
Het |
| Vmn2r75 |
T |
C |
7: 85,797,644 (GRCm39) |
D723G |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,903,594 (GRCm39) |
T2042A |
probably damaging |
Het |
| Zfp87 |
T |
C |
13: 67,669,392 (GRCm39) |
E18G |
probably damaging |
Het |
|
| Other mutations in Fbxo3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01508:Fbxo3
|
APN |
2 |
103,864,021 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02187:Fbxo3
|
APN |
2 |
103,858,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02323:Fbxo3
|
APN |
2 |
103,878,296 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02941:Fbxo3
|
APN |
2 |
103,880,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03346:Fbxo3
|
APN |
2 |
103,880,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
associative
|
UTSW |
2 |
103,885,330 (GRCm39) |
missense |
probably benign |
0.20 |
|
littleknown
|
UTSW |
2 |
103,864,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
overrated
|
UTSW |
2 |
103,881,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
transitory
|
UTSW |
2 |
103,885,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Fbxo3
|
UTSW |
2 |
103,885,330 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2899:Fbxo3
|
UTSW |
2 |
103,881,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4256:Fbxo3
|
UTSW |
2 |
103,881,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Fbxo3
|
UTSW |
2 |
103,883,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Fbxo3
|
UTSW |
2 |
103,885,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Fbxo3
|
UTSW |
2 |
103,885,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Fbxo3
|
UTSW |
2 |
103,885,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Fbxo3
|
UTSW |
2 |
103,881,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Fbxo3
|
UTSW |
2 |
103,873,357 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7226:Fbxo3
|
UTSW |
2 |
103,880,642 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7577:Fbxo3
|
UTSW |
2 |
103,881,543 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7841:Fbxo3
|
UTSW |
2 |
103,890,337 (GRCm39) |
missense |
unknown |
|
|
R7897:Fbxo3
|
UTSW |
2 |
103,883,757 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8039:Fbxo3
|
UTSW |
2 |
103,885,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8080:Fbxo3
|
UTSW |
2 |
103,864,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8099:Fbxo3
|
UTSW |
2 |
103,885,280 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8256:Fbxo3
|
UTSW |
2 |
103,864,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Fbxo3
|
UTSW |
2 |
103,881,553 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8960:Fbxo3
|
UTSW |
2 |
103,858,274 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2016-08-02 |
Incidental Mutation