Incidental Mutation 'R1377:Fbxo46'
| ID |
162907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo46
|
| Ensembl Gene |
ENSMUSG00000050428 |
| Gene Name |
F-box protein 46 |
| Synonyms |
20D7-FC4, 4932704E22Rik, Fbxo34l |
| MMRRC Submission |
039441-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R1377 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18853784-18872186 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18870350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 323
(V323E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032566]
[ENSMUST00000053109]
[ENSMUST00000165913]
|
| AlphaFold |
Q8BG80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032566
|
| SMART Domains |
Protein: ENSMUSP00000032566
Gene: ENSMUSG00000030407
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
48 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M28
|
151 |
377 |
2.3e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053109
AA Change: V323E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000055692
Gene: ENSMUSG00000050428
AA Change: V323E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
274 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
424 |
N/A |
INTRINSIC |
|
FBOX
|
476 |
516 |
1.9e-5 |
SMART |
|
low complexity region
|
591 |
603 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165913
AA Change: V323E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129427
Gene: ENSMUSG00000050428
AA Change: V323E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
274 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
424 |
N/A |
INTRINSIC |
|
FBOX
|
476 |
516 |
1.9e-5 |
SMART |
|
low complexity region
|
591 |
603 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| 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 FBXO46, 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,934,869 (GRCm39) |
V363A |
probably damaging |
Het |
| Arc |
G |
A |
15: 74,544,101 (GRCm39) |
H41Y |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,501,801 (GRCm39) |
A854V |
probably benign |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,059,596 (GRCm39) |
K4399* |
probably null |
Het |
| Dscam |
A |
G |
16: 96,573,694 (GRCm39) |
V756A |
probably damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,395,104 (GRCm39) |
E574V |
probably damaging |
Het |
| Gria1 |
C |
A |
11: 57,092,002 (GRCm39) |
N163K |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,545,202 (GRCm39) |
I133M |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,921,089 (GRCm39) |
L750Q |
probably damaging |
Het |
| Ptprk |
G |
A |
10: 28,462,022 (GRCm39) |
R1195Q |
probably benign |
Het |
| Rbm15 |
T |
C |
3: 107,238,074 (GRCm39) |
T775A |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,716 (GRCm39) |
E207G |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,397,345 (GRCm39) |
I329N |
probably damaging |
Het |
| Stoml3 |
G |
A |
3: 53,415,062 (GRCm39) |
A285T |
probably benign |
Het |
| Trhr2 |
C |
T |
8: 123,087,327 (GRCm39) |
V38M |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,101,123 (GRCm39) |
L25P |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,021,694 (GRCm39) |
M748K |
unknown |
Het |
| Zfp454 |
T |
C |
11: 50,764,607 (GRCm39) |
Y164C |
probably damaging |
Het |
| Zfp804a |
T |
C |
2: 82,088,841 (GRCm39) |
V890A |
probably benign |
Het |
| Zxdc |
T |
C |
6: 90,355,885 (GRCm39) |
S465P |
probably damaging |
Het |
|
| Other mutations in Fbxo46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Fbxo46
|
APN |
7 |
18,870,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01655:Fbxo46
|
APN |
7 |
18,870,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Fbxo46
|
APN |
7 |
18,871,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02940:Fbxo46
|
APN |
7 |
18,869,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0517:Fbxo46
|
UTSW |
7 |
18,870,799 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0840:Fbxo46
|
UTSW |
7 |
18,871,073 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0894:Fbxo46
|
UTSW |
7 |
18,869,654 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2303:Fbxo46
|
UTSW |
7 |
18,870,541 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4601:Fbxo46
|
UTSW |
7 |
18,869,489 (GRCm39) |
missense |
probably benign |
|
|
R5394:Fbxo46
|
UTSW |
7 |
18,870,541 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5530:Fbxo46
|
UTSW |
7 |
18,870,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5743:Fbxo46
|
UTSW |
7 |
18,870,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6320:Fbxo46
|
UTSW |
7 |
18,870,466 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7639:Fbxo46
|
UTSW |
7 |
18,870,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Fbxo46
|
UTSW |
7 |
18,870,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8348:Fbxo46
|
UTSW |
7 |
18,870,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Fbxo46
|
UTSW |
7 |
18,869,325 (GRCm39) |
start gained |
probably benign |
|
|
R9108:Fbxo46
|
UTSW |
7 |
18,870,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9464:Fbxo46
|
UTSW |
7 |
18,870,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTTCCGAATCTCCAATGTCCG -3'
(R):5'- AGGCACACAGTCTCTTCCTTCACG -3'
Sequencing Primer
(F):5'- GAATCTCCAATGTCCGAGAGC -3'
(R):5'- GTGCCATCTTTGCCAAAGAAG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation