Incidental Mutation 'IGL02435:Fbxo15'
| ID |
293255 |
| 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 # |
IGL02435
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
84952907-84999598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84977351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 88
(S88P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037718]
[ENSMUST00000224467]
[ENSMUST00000225445]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037718
AA Change: S133P
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045925
Gene: ENSMUSG00000034391
AA Change: S133P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
42 |
N/A |
INTRINSIC |
|
FBOX
|
46 |
86 |
3.4e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223789
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224427
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224467
AA Change: S88P
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225445
AA Change: S88P
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
A |
G |
13: 19,323,333 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
G |
T |
17: 66,294,151 (GRCm39) |
S427R |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,416,482 (GRCm39) |
T420A |
probably benign |
Het |
| Braf |
C |
T |
6: 39,623,700 (GRCm39) |
S414N |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,485,832 (GRCm39) |
L401P |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,830,325 (GRCm39) |
|
probably benign |
Het |
| Elmo1 |
A |
T |
13: 20,773,826 (GRCm39) |
D612V |
probably damaging |
Het |
| Glrx3 |
A |
G |
7: 137,063,125 (GRCm39) |
N132S |
possibly damaging |
Het |
| Hamp |
G |
T |
7: 30,643,324 (GRCm39) |
Q29K |
probably benign |
Het |
| Igfbp2 |
G |
A |
1: 72,891,245 (GRCm39) |
R281Q |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,637,711 (GRCm39) |
A483T |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,253,671 (GRCm39) |
Q231* |
probably null |
Het |
| Nif3l1 |
A |
G |
1: 58,487,020 (GRCm39) |
T69A |
possibly damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,696,039 (GRCm39) |
F157S |
probably benign |
Het |
| Or2ag1b |
A |
G |
7: 106,288,710 (GRCm39) |
V76A |
probably benign |
Het |
| Or4a72 |
A |
G |
2: 89,405,890 (GRCm39) |
F60S |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,391 (GRCm39) |
I251N |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,781,847 (GRCm39) |
|
probably benign |
Het |
| Pdgfrb |
T |
C |
18: 61,197,998 (GRCm39) |
|
probably null |
Het |
| Ric8b |
A |
G |
10: 84,815,940 (GRCm39) |
N194S |
probably benign |
Het |
| Rlbp1 |
A |
G |
7: 79,031,414 (GRCm39) |
F105L |
probably damaging |
Het |
| Sde2 |
G |
T |
1: 180,693,717 (GRCm39) |
K402N |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,250,860 (GRCm39) |
H461R |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,889,760 (GRCm39) |
I210F |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,248,020 (GRCm39) |
R735W |
probably damaging |
Het |
| Tspan6 |
T |
C |
X: 132,793,493 (GRCm39) |
Y186C |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,660,969 (GRCm39) |
S508P |
probably benign |
Het |
| Zfp217 |
T |
C |
2: 169,961,373 (GRCm39) |
D318G |
possibly damaging |
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 |
|
|
IGL02546:Fbxo15
|
APN |
18 |
84,980,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03099:Fbxo15
|
APN |
18 |
84,999,338 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
2015-04-16 |
Incidental Mutation