Incidental Mutation 'IGL01807:Fbxo15'
| ID |
155721 |
| 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 # |
IGL01807
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
84952907-84999598 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to A
at 84999506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037718]
[ENSMUST00000224467]
[ENSMUST00000225015]
[ENSMUST00000225445]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037718
|
| SMART Domains |
Protein: ENSMUSP00000045925
Gene: ENSMUSG00000034391
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
42 |
N/A |
INTRINSIC |
|
FBOX
|
46 |
86 |
3.4e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224467
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
G |
T |
6: 142,551,640 (GRCm39) |
L1223M |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,330,418 (GRCm39) |
E814G |
possibly damaging |
Het |
| Atf1 |
T |
C |
15: 100,149,945 (GRCm39) |
|
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,457,158 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,938,032 (GRCm39) |
I2625V |
probably benign |
Het |
| Bub1 |
A |
G |
2: 127,654,897 (GRCm39) |
S545P |
probably benign |
Het |
| Cacna1i |
T |
A |
15: 80,258,348 (GRCm39) |
I1173N |
probably damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,206,616 (GRCm39) |
E210G |
probably benign |
Het |
| Ccl2 |
G |
A |
11: 81,926,513 (GRCm39) |
G9D |
possibly damaging |
Het |
| Chmp2b |
T |
A |
16: 65,337,091 (GRCm39) |
T189S |
probably benign |
Het |
| Col4a1 |
A |
T |
8: 11,297,056 (GRCm39) |
|
probably benign |
Het |
| Ecm1 |
A |
G |
3: 95,643,891 (GRCm39) |
S236P |
probably damaging |
Het |
| Epha8 |
A |
G |
4: 136,658,993 (GRCm39) |
V887A |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,533,856 (GRCm39) |
M36V |
probably benign |
Het |
| Mtmr4 |
A |
G |
11: 87,494,976 (GRCm39) |
I423V |
possibly damaging |
Het |
| Ngly1 |
C |
T |
14: 16,290,873 (GRCm38) |
L452F |
probably benign |
Het |
| Or52u1 |
T |
A |
7: 104,237,091 (GRCm39) |
W27R |
probably damaging |
Het |
| Or5ac15 |
T |
C |
16: 58,939,936 (GRCm39) |
T166A |
possibly damaging |
Het |
| Pak2 |
T |
C |
16: 31,856,097 (GRCm39) |
K247E |
probably damaging |
Het |
| Pola2 |
A |
G |
19: 6,003,187 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
C |
T |
6: 5,158,248 (GRCm39) |
Q1219* |
probably null |
Het |
| Rasgrf1 |
T |
C |
9: 89,873,566 (GRCm39) |
I625T |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,613,189 (GRCm39) |
T120A |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,134,288 (GRCm39) |
Y252C |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,734,737 (GRCm39) |
*686R |
probably null |
Het |
| Smc1b |
T |
A |
15: 84,980,946 (GRCm39) |
D774V |
probably damaging |
Het |
| Uba6 |
C |
T |
5: 86,270,270 (GRCm39) |
R838Q |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 121,084,251 (GRCm39) |
S105P |
probably damaging |
Het |
| Vwa3a |
G |
A |
7: 120,374,729 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
A |
G |
2: 67,345,375 (GRCm39) |
T2539A |
probably benign |
Het |
| Zfpm2 |
T |
C |
15: 40,616,452 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation