Incidental Mutation 'IGL03099:Fbxo15'
| ID |
418662 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo15
|
| Ensembl Gene |
ENSMUSG00000034391 |
| Gene Name |
F-box protein 15 |
| Synonyms |
ecat3, Fbx15 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03099
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
84952907-84999598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84999338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 380
(L380P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037718]
[ENSMUST00000224467]
[ENSMUST00000225015]
[ENSMUST00000225445]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037718
AA Change: L425P
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045925
Gene: ENSMUSG00000034391
AA Change: L425P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
42 |
N/A |
INTRINSIC |
|
FBOX
|
46 |
86 |
3.4e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224467
AA Change: L380P
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225015
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225445
|
| 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 FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), 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]
PHENOTYPE: Both male and female homozygous null mice develop normally and are fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akp3 |
C |
A |
1: 87,055,328 (GRCm39) |
F458L |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,353 (GRCm39) |
L546P |
unknown |
Het |
| Arpc5l |
A |
G |
2: 38,903,844 (GRCm39) |
Y111C |
probably damaging |
Het |
| Atp11a |
T |
C |
8: 12,877,462 (GRCm39) |
F296S |
possibly damaging |
Het |
| Bbof1 |
C |
T |
12: 84,473,539 (GRCm39) |
Q290* |
probably null |
Het |
| Brinp3 |
A |
T |
1: 146,777,835 (GRCm39) |
T761S |
possibly damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,424,328 (GRCm39) |
M143K |
possibly damaging |
Het |
| Daw1 |
T |
C |
1: 83,157,088 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,314,862 (GRCm39) |
N6498D |
probably damaging |
Het |
| Glce |
A |
T |
9: 61,967,344 (GRCm39) |
F602L |
probably benign |
Het |
| Gpatch1 |
A |
G |
7: 34,996,948 (GRCm39) |
S417P |
possibly damaging |
Het |
| Hjurp |
T |
C |
1: 88,194,011 (GRCm39) |
K223R |
probably benign |
Het |
| Hnrnpm |
C |
T |
17: 33,888,146 (GRCm39) |
C113Y |
probably damaging |
Het |
| Igkv4-71 |
T |
C |
6: 69,220,399 (GRCm39) |
M11V |
probably benign |
Het |
| Insr |
G |
T |
8: 3,308,715 (GRCm39) |
T107K |
probably damaging |
Het |
| Mdm4 |
G |
A |
1: 132,919,947 (GRCm39) |
T306M |
probably damaging |
Het |
| Nek11 |
T |
C |
9: 105,164,852 (GRCm39) |
I425V |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,230,408 (GRCm39) |
V95E |
probably damaging |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Snx10 |
T |
A |
6: 51,556,840 (GRCm39) |
M41K |
possibly damaging |
Het |
| Sos2 |
T |
A |
12: 69,663,133 (GRCm39) |
N588Y |
probably damaging |
Het |
| Srrm3 |
C |
A |
5: 135,898,152 (GRCm39) |
|
probably benign |
Het |
| Tbc1d19 |
G |
T |
5: 54,040,997 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,871,448 (GRCm39) |
K612* |
probably null |
Het |
|
| Other mutations in Fbxo15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00517:Fbxo15
|
APN |
18 |
84,977,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01375:Fbxo15
|
APN |
18 |
84,976,404 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01730:Fbxo15
|
APN |
18 |
84,982,299 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01807:Fbxo15
|
APN |
18 |
84,999,506 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02220:Fbxo15
|
APN |
18 |
84,982,317 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02255:Fbxo15
|
APN |
18 |
84,982,321 (GRCm39) |
splice site |
probably null |
|
|
IGL02435:Fbxo15
|
APN |
18 |
84,977,351 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02546:Fbxo15
|
APN |
18 |
84,980,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0346:Fbxo15
|
UTSW |
18 |
84,978,346 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1606:Fbxo15
|
UTSW |
18 |
84,980,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1671:Fbxo15
|
UTSW |
18 |
84,977,231 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2113:Fbxo15
|
UTSW |
18 |
84,977,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3962:Fbxo15
|
UTSW |
18 |
84,977,372 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4064:Fbxo15
|
UTSW |
18 |
84,977,243 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5523:Fbxo15
|
UTSW |
18 |
84,978,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5931:Fbxo15
|
UTSW |
18 |
84,999,250 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6235:Fbxo15
|
UTSW |
18 |
84,999,029 (GRCm39) |
intron |
probably benign |
|
|
R6349:Fbxo15
|
UTSW |
18 |
84,982,267 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6607:Fbxo15
|
UTSW |
18 |
84,977,270 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7232:Fbxo15
|
UTSW |
18 |
84,980,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Fbxo15
|
UTSW |
18 |
84,977,243 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7519:Fbxo15
|
UTSW |
18 |
84,982,359 (GRCm39) |
unclassified |
probably benign |
|
|
R7671:Fbxo15
|
UTSW |
18 |
84,982,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8094:Fbxo15
|
UTSW |
18 |
84,983,618 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8365:Fbxo15
|
UTSW |
18 |
84,980,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8494:Fbxo15
|
UTSW |
18 |
84,982,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8809:Fbxo15
|
UTSW |
18 |
84,978,200 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9072:Fbxo15
|
UTSW |
18 |
84,983,645 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9073:Fbxo15
|
UTSW |
18 |
84,983,645 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9342:Fbxo15
|
UTSW |
18 |
84,983,609 (GRCm39) |
missense |
unknown |
|
|
R9386:Fbxo15
|
UTSW |
18 |
84,977,372 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9409:Fbxo15
|
UTSW |
18 |
84,977,246 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9549:Fbxo15
|
UTSW |
18 |
84,980,805 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
X0022:Fbxo15
|
UTSW |
18 |
84,978,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Fbxo15
|
UTSW |
18 |
84,976,433 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation