Incidental Mutation 'IGL01730:Fbxo15'
| ID |
105430 |
| 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 # |
IGL01730
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
84952907-84999598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84982299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 250
(I250M)
|
| 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
AA Change: I295M
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000045925
Gene: ENSMUSG00000034391
AA Change: I295M
| 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 |
probably benign
Transcript: ENSMUST00000224467
AA Change: I250M
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225015
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225445
AA Change: I250M
PolyPhen 2
Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
G |
5: 36,119,583 (GRCm39) |
E287G |
probably damaging |
Het |
| Bhmt |
A |
T |
13: 93,761,917 (GRCm39) |
V122E |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,147,302 (GRCm39) |
I585T |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,861,841 (GRCm39) |
S645P |
probably benign |
Het |
| Derl1 |
A |
T |
15: 57,755,543 (GRCm39) |
F50Y |
possibly damaging |
Het |
| Dhrs3 |
T |
C |
4: 144,646,042 (GRCm39) |
S117P |
probably damaging |
Het |
| E2f8 |
A |
T |
7: 48,527,682 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,154,894 (GRCm39) |
|
probably benign |
Het |
| Ghr |
A |
T |
15: 3,350,066 (GRCm39) |
S371T |
probably damaging |
Het |
| Gm5884 |
A |
T |
6: 128,622,669 (GRCm39) |
|
noncoding transcript |
Het |
| Grhl2 |
T |
C |
15: 37,338,018 (GRCm39) |
V496A |
probably benign |
Het |
| Gsap |
A |
G |
5: 21,495,152 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
T |
C |
10: 120,014,005 (GRCm39) |
D148G |
probably benign |
Het |
| Itga2 |
A |
T |
13: 114,990,947 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,987,810 (GRCm39) |
|
probably null |
Het |
| Kif20b |
A |
T |
19: 34,927,923 (GRCm39) |
K1022* |
probably null |
Het |
| Klhl17 |
G |
T |
4: 156,316,157 (GRCm39) |
S399* |
probably null |
Het |
| Lcp2 |
A |
T |
11: 34,000,943 (GRCm39) |
D42V |
possibly damaging |
Het |
| Lin7c |
G |
T |
2: 109,726,785 (GRCm39) |
G145* |
probably null |
Het |
| Lrba |
A |
G |
3: 86,648,731 (GRCm39) |
D2493G |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,996,992 (GRCm39) |
D41G |
probably damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,372,640 (GRCm39) |
Q785* |
probably null |
Het |
| Myl6b |
T |
C |
10: 128,332,211 (GRCm39) |
Y85C |
possibly damaging |
Het |
| Nup133 |
G |
T |
8: 124,664,972 (GRCm39) |
H240N |
probably benign |
Het |
| Or5b12 |
A |
C |
19: 12,896,926 (GRCm39) |
F249C |
probably damaging |
Het |
| Plk4 |
T |
C |
3: 40,760,285 (GRCm39) |
S394P |
probably benign |
Het |
| Prepl |
A |
G |
17: 85,388,603 (GRCm39) |
Y167H |
possibly damaging |
Het |
| Prkab1 |
A |
G |
5: 116,159,551 (GRCm39) |
L105P |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,616,728 (GRCm39) |
I3897L |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,916,434 (GRCm39) |
S469G |
probably benign |
Het |
| Serpinb3c |
T |
A |
1: 107,200,914 (GRCm39) |
S168C |
probably damaging |
Het |
| Snapc4 |
A |
T |
2: 26,253,736 (GRCm39) |
|
probably null |
Het |
| Sorcs2 |
A |
T |
5: 36,205,153 (GRCm39) |
M528K |
probably damaging |
Het |
| Spink10 |
T |
A |
18: 62,784,816 (GRCm39) |
|
probably null |
Het |
| Tent5b |
A |
T |
4: 133,213,833 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
C |
A |
6: 12,554,980 (GRCm39) |
Q301H |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,797,252 (GRCm39) |
F335I |
possibly damaging |
Het |
| Tshr |
A |
T |
12: 91,486,077 (GRCm39) |
D217V |
possibly damaging |
Het |
| Ttyh1 |
G |
A |
7: 4,128,720 (GRCm39) |
V206M |
possibly damaging |
Het |
| Tusc3 |
T |
G |
8: 39,617,880 (GRCm39) |
*348G |
probably null |
Het |
| Vmn2r76 |
G |
A |
7: 85,879,406 (GRCm39) |
T298I |
probably benign |
Het |
| Wdr47 |
T |
C |
3: 108,518,712 (GRCm39) |
F67L |
probably 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 |
|
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation