Incidental Mutation 'IGL02546:Fbxo15'
| ID |
297849 |
| 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 # |
IGL02546
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
84952907-84999598 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 84980847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000223789
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224427
|
| Predicted Effect |
probably null
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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
G |
T |
12: 52,927,521 (GRCm39) |
V144L |
probably damaging |
Het |
| Carmil1 |
A |
T |
13: 24,299,482 (GRCm39) |
N347K |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,468,520 (GRCm39) |
Y334C |
probably damaging |
Het |
| Dmxl2 |
C |
A |
9: 54,273,698 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
C |
T |
6: 137,456,064 (GRCm39) |
A806T |
probably benign |
Het |
| Evl |
A |
G |
12: 108,614,678 (GRCm39) |
N24S |
possibly damaging |
Het |
| Gm14179 |
A |
T |
11: 99,634,019 (GRCm39) |
|
|
Het |
| Hepacam2 |
A |
G |
6: 3,483,568 (GRCm39) |
V147A |
possibly damaging |
Het |
| Jmjd1c |
C |
A |
10: 67,061,115 (GRCm39) |
P1156Q |
possibly damaging |
Het |
| Mab21l3 |
A |
T |
3: 101,730,624 (GRCm39) |
V205E |
probably damaging |
Het |
| Mad2l1 |
T |
C |
6: 66,512,951 (GRCm39) |
I28T |
probably damaging |
Het |
| Minar2 |
T |
A |
18: 59,205,347 (GRCm39) |
M45K |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,908,145 (GRCm39) |
I2F |
probably benign |
Het |
| Msr1 |
A |
T |
8: 40,068,788 (GRCm39) |
I302K |
probably benign |
Het |
| Msrb3 |
C |
T |
10: 120,685,906 (GRCm39) |
V80I |
possibly damaging |
Het |
| Ncf4 |
A |
G |
15: 78,145,219 (GRCm39) |
D269G |
probably damaging |
Het |
| Nsl1 |
T |
A |
1: 190,803,398 (GRCm39) |
H156Q |
probably benign |
Het |
| Nutm1 |
T |
C |
2: 112,078,669 (GRCm39) |
D1082G |
probably benign |
Het |
| Or6c216 |
T |
A |
10: 129,678,416 (GRCm39) |
D165V |
probably damaging |
Het |
| Or7g20 |
T |
A |
9: 18,946,650 (GRCm39) |
V77D |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,807,296 (GRCm39) |
I212V |
probably null |
Het |
| Pde6c |
A |
G |
19: 38,128,488 (GRCm39) |
I184V |
probably benign |
Het |
| Pfkfb3 |
A |
T |
2: 11,493,589 (GRCm39) |
F129Y |
probably damaging |
Het |
| Ppp3cb |
T |
C |
14: 20,551,622 (GRCm39) |
D493G |
probably benign |
Het |
| Psg29 |
A |
G |
7: 16,942,707 (GRCm39) |
Y236C |
probably damaging |
Het |
| Pzp |
C |
T |
6: 128,471,662 (GRCm39) |
|
probably benign |
Het |
| Semp2l2b |
A |
T |
10: 21,942,826 (GRCm39) |
W385R |
probably damaging |
Het |
| Sgf29 |
T |
A |
7: 126,271,025 (GRCm39) |
V180E |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,071,266 (GRCm39) |
|
probably benign |
Het |
| Slc39a2 |
A |
T |
14: 52,132,620 (GRCm39) |
T188S |
probably benign |
Het |
| Slc6a13 |
G |
T |
6: 121,310,323 (GRCm39) |
M327I |
probably benign |
Het |
| Slitrk6 |
T |
A |
14: 110,987,226 (GRCm39) |
H827L |
probably benign |
Het |
| Thumpd2 |
T |
G |
17: 81,361,884 (GRCm39) |
K114T |
probably benign |
Het |
| Tnfrsf19 |
A |
T |
14: 61,210,987 (GRCm39) |
C234S |
possibly damaging |
Het |
| Tns2 |
A |
G |
15: 102,019,375 (GRCm39) |
D446G |
probably damaging |
Het |
| Tpm4 |
A |
G |
8: 72,898,547 (GRCm39) |
E137G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,625,901 (GRCm39) |
R13307C |
probably damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,725 (GRCm39) |
S122P |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,008,991 (GRCm39) |
D1080G |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,981,373 (GRCm39) |
L886* |
probably null |
Het |
| Unc80 |
T |
C |
1: 66,594,112 (GRCm39) |
S1164P |
possibly damaging |
Het |
| Uspl1 |
T |
C |
5: 149,141,114 (GRCm39) |
V371A |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,494,804 (GRCm39) |
V35A |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp787 |
A |
T |
7: 6,135,297 (GRCm39) |
I318N |
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 |
|
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 |
|
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