Incidental Mutation 'IGL02371:Fbxo32'
| ID |
290949 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo32
|
| Ensembl Gene |
ENSMUSG00000022358 |
| Gene Name |
F-box protein 32 |
| Synonyms |
atrogin-1, ATROGIN1, MAFbx, 4833442G10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
58039275-58078288 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to T
at 58044860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022986]
|
| AlphaFold |
Q9CPU7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022986
|
| SMART Domains |
Protein: ENSMUSP00000022986
Gene: ENSMUSG00000022358
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:FBOX
|
228 |
269 |
6e-16 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
PHENOTYPE: A targeted homozygous mutation in this gene results in resistance to skeletal muscle atrophy in response to nerve injury. [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 |
|---|
| Arfgef3 |
T |
C |
10: 18,522,287 (GRCm39) |
T580A |
probably benign |
Het |
| Casp2 |
T |
A |
6: 42,244,902 (GRCm39) |
D100E |
probably benign |
Het |
| Cd1d1 |
C |
A |
3: 86,906,188 (GRCm39) |
R29L |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyct |
A |
G |
2: 76,184,434 (GRCm39) |
*106R |
probably null |
Het |
| Enam |
A |
G |
5: 88,650,668 (GRCm39) |
I726V |
probably benign |
Het |
| Epha3 |
T |
G |
16: 63,405,383 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
T |
C |
1: 68,329,453 (GRCm39) |
D632G |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,095,384 (GRCm39) |
N125S |
possibly damaging |
Het |
| Foxa1 |
T |
C |
12: 57,589,486 (GRCm39) |
T245A |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,042,452 (GRCm39) |
V395A |
probably benign |
Het |
| Gimap5 |
A |
T |
6: 48,729,937 (GRCm39) |
N169I |
probably damaging |
Het |
| Itgav |
A |
G |
2: 83,600,397 (GRCm39) |
M266V |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,785,238 (GRCm39) |
S63F |
probably damaging |
Het |
| Lpp |
G |
A |
16: 24,580,361 (GRCm39) |
A26T |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,994 (GRCm39) |
Y159H |
probably damaging |
Het |
| Lzts1 |
A |
T |
8: 69,591,450 (GRCm39) |
S233T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,676,860 (GRCm39) |
|
probably benign |
Het |
| Nrf1 |
A |
T |
6: 30,118,990 (GRCm39) |
I382F |
possibly damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,362 (GRCm39) |
F171Y |
probably damaging |
Het |
| Or1m1 |
G |
T |
9: 18,666,000 (GRCm39) |
S310R |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
| Pde9a |
T |
A |
17: 31,639,259 (GRCm39) |
V63D |
possibly damaging |
Het |
| Plcg1 |
T |
A |
2: 160,595,427 (GRCm39) |
N484K |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,105,691 (GRCm39) |
|
probably null |
Het |
| Pot1b |
A |
G |
17: 56,002,092 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Ptchd4 |
G |
A |
17: 42,627,865 (GRCm39) |
G109S |
possibly damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,904,527 (GRCm39) |
N119S |
probably benign |
Het |
| Rbm22 |
C |
T |
18: 60,705,028 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,661,414 (GRCm39) |
S480R |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,275,535 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Fbxo32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01584:Fbxo32
|
APN |
15 |
58,047,632 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02721:Fbxo32
|
APN |
15 |
58,046,358 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0277:Fbxo32
|
UTSW |
15 |
58,047,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0323:Fbxo32
|
UTSW |
15 |
58,047,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Fbxo32
|
UTSW |
15 |
58,054,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2315:Fbxo32
|
UTSW |
15 |
58,071,431 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2321:Fbxo32
|
UTSW |
15 |
58,054,689 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2849:Fbxo32
|
UTSW |
15 |
58,071,368 (GRCm39) |
missense |
probably benign |
|
|
R4233:Fbxo32
|
UTSW |
15 |
58,055,729 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4569:Fbxo32
|
UTSW |
15 |
58,044,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6856:Fbxo32
|
UTSW |
15 |
58,078,037 (GRCm39) |
start gained |
probably benign |
|
|
R7747:Fbxo32
|
UTSW |
15 |
58,054,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7868:Fbxo32
|
UTSW |
15 |
58,077,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8317:Fbxo32
|
UTSW |
15 |
58,068,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9009:Fbxo32
|
UTSW |
15 |
58,046,358 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Fbxo32
|
UTSW |
15 |
58,068,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation