Incidental Mutation 'R6607:Fbxo15'
| ID |
525776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo15
|
| Ensembl Gene |
ENSMUSG00000034391 |
| Gene Name |
F-box protein 15 |
| Synonyms |
ecat3, Fbx15 |
| MMRRC Submission |
044730-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6607 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
84952907-84999598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84977270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 106
(T106S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045925
(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: T106S
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045925
Gene: ENSMUSG00000034391
AA Change: T106S
| 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: T61S
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225445
AA Change: T61S
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (27/28) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
C |
15: 83,112,507 (GRCm39) |
D92G |
possibly damaging |
Het |
| Ace |
A |
T |
11: 105,863,203 (GRCm39) |
H326L |
possibly damaging |
Het |
| Adtrp |
A |
G |
13: 41,931,087 (GRCm39) |
F167L |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,631,670 (GRCm39) |
T343A |
probably damaging |
Het |
| Cacna1a |
A |
T |
8: 85,306,121 (GRCm39) |
I1290F |
probably damaging |
Het |
| Cdh4 |
G |
A |
2: 179,515,889 (GRCm39) |
V356I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,847,486 (GRCm39) |
V1417A |
probably benign |
Het |
| Ctbs |
A |
G |
3: 146,163,128 (GRCm39) |
D172G |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,445,346 (GRCm39) |
T4161A |
possibly damaging |
Het |
| Dut |
A |
G |
2: 125,098,787 (GRCm39) |
D140G |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,831,180 (GRCm39) |
D2162G |
unknown |
Het |
| Esyt2 |
G |
A |
12: 116,332,360 (GRCm39) |
D781N |
probably benign |
Het |
| Fam174b |
T |
C |
7: 73,416,312 (GRCm39) |
L135P |
probably damaging |
Het |
| Foxq1 |
A |
G |
13: 31,743,129 (GRCm39) |
D77G |
possibly damaging |
Het |
| Gclm |
G |
A |
3: 122,049,264 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,747,537 (GRCm39) |
S1677T |
probably damaging |
Het |
| Hamp2 |
T |
A |
7: 30,622,013 (GRCm39) |
R59* |
probably null |
Het |
| Herc1 |
C |
T |
9: 66,325,849 (GRCm39) |
A1441V |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Rbks |
C |
T |
5: 31,805,136 (GRCm39) |
V243M |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slc17a4 |
T |
C |
13: 24,089,397 (GRCm39) |
|
probably null |
Het |
| Slc29a1 |
A |
C |
17: 45,899,853 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
A |
G |
11: 35,954,602 (GRCm39) |
|
probably null |
Het |
| Tmem26 |
T |
A |
10: 68,614,543 (GRCm39) |
H319Q |
probably benign |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,891 (GRCm39) |
Y224C |
probably benign |
Het |
| Vmn1r223 |
T |
C |
13: 23,433,919 (GRCm39) |
I171T |
probably damaging |
Het |
| Vmn2r101 |
T |
C |
17: 19,832,296 (GRCm39) |
L764S |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,226,731 (GRCm39) |
H369R |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACCATCCAGAAAGCATGTG -3'
(R):5'- GTTCTGTCCAAGAGCCACTG -3'
Sequencing Primer
(F):5'- CATGTGTGCCTTCTCTGATTAGGAAG -3'
(R):5'- CCACTGAGGTGAGTGTTCAAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation