Incidental Mutation 'IGL00914:Fbxo30'
ID |
28320 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxo30
|
Ensembl Gene |
ENSMUSG00000047648 |
Gene Name |
F-box protein 30 |
Synonyms |
1700026A16Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.214)
|
Stock # |
IGL00914
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
11157074-11173796 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 11166283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 335
(V335A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117687
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070300]
[ENSMUST00000129456]
|
AlphaFold |
Q8BJL1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070300
AA Change: V335A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000068230 Gene: ENSMUSG00000047648 AA Change: V335A
Domain | Start | End | E-Value | Type |
Pfam:zf-TRAF_2
|
8 |
100 |
2.5e-42 |
PFAM |
Pfam:F-box_4
|
610 |
725 |
1.6e-52 |
PFAM |
Pfam:F-box
|
612 |
653 |
3e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129456
AA Change: V335A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000117687 Gene: ENSMUSG00000047648 AA Change: V335A
Domain | Start | End | E-Value | Type |
PDB:2YRE|A
|
1 |
88 |
6e-51 |
PDB |
SCOP:d1k2fa_
|
58 |
93 |
7e-3 |
SMART |
Pfam:F-box
|
612 |
653 |
2.3e-7 |
PFAM |
|
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 it is upregulated in nasopharyngeal carcinoma. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
All alleles(32) : Targeted(2) Gene trapped(30)
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
T |
G |
10: 20,860,198 (GRCm39) |
|
probably null |
Het |
Aipl1 |
T |
C |
11: 71,922,373 (GRCm39) |
D112G |
probably damaging |
Het |
Casz1 |
G |
A |
4: 149,013,828 (GRCm39) |
E131K |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 180,670,824 (GRCm39) |
Y311H |
probably damaging |
Het |
Cyp2d34 |
G |
T |
15: 82,504,915 (GRCm39) |
N48K |
probably damaging |
Het |
Dnajc13 |
T |
A |
9: 104,090,081 (GRCm39) |
K696I |
possibly damaging |
Het |
Dync2i1 |
A |
G |
12: 116,196,223 (GRCm39) |
V508A |
probably damaging |
Het |
Itga5 |
A |
G |
15: 103,258,799 (GRCm39) |
|
probably null |
Het |
Morc2a |
G |
A |
11: 3,618,844 (GRCm39) |
|
probably null |
Het |
Nek8 |
T |
C |
11: 78,063,901 (GRCm39) |
I35V |
possibly damaging |
Het |
Or5b101 |
A |
G |
19: 13,004,955 (GRCm39) |
V246A |
probably damaging |
Het |
Or8c15 |
A |
G |
9: 38,121,095 (GRCm39) |
|
probably null |
Het |
Pcyt2 |
A |
G |
11: 120,505,151 (GRCm39) |
|
probably benign |
Het |
Sec23b |
T |
G |
2: 144,408,784 (GRCm39) |
S156R |
probably damaging |
Het |
Shc3 |
T |
A |
13: 51,634,263 (GRCm39) |
|
probably benign |
Het |
Sntg2 |
A |
G |
12: 30,307,956 (GRCm39) |
|
probably benign |
Het |
Srms |
T |
A |
2: 180,849,565 (GRCm39) |
M280L |
probably benign |
Het |
|
Other mutations in Fbxo30 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00971:Fbxo30
|
APN |
10 |
11,166,042 (GRCm39) |
missense |
probably benign |
|
IGL02388:Fbxo30
|
APN |
10 |
11,166,122 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4468001:Fbxo30
|
UTSW |
10 |
11,166,700 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0014:Fbxo30
|
UTSW |
10 |
11,165,603 (GRCm39) |
nonsense |
probably null |
|
R0144:Fbxo30
|
UTSW |
10 |
11,170,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R0709:Fbxo30
|
UTSW |
10 |
11,167,057 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1583:Fbxo30
|
UTSW |
10 |
11,167,118 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1791:Fbxo30
|
UTSW |
10 |
11,165,531 (GRCm39) |
nonsense |
probably null |
|
R2018:Fbxo30
|
UTSW |
10 |
11,166,772 (GRCm39) |
missense |
probably damaging |
0.98 |
R2317:Fbxo30
|
UTSW |
10 |
11,166,078 (GRCm39) |
missense |
probably damaging |
0.98 |
R3842:Fbxo30
|
UTSW |
10 |
11,165,856 (GRCm39) |
missense |
probably damaging |
0.98 |
R4579:Fbxo30
|
UTSW |
10 |
11,165,293 (GRCm39) |
missense |
probably benign |
0.00 |
R4655:Fbxo30
|
UTSW |
10 |
11,166,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R4751:Fbxo30
|
UTSW |
10 |
11,165,939 (GRCm39) |
missense |
probably benign |
0.01 |
R4998:Fbxo30
|
UTSW |
10 |
11,166,507 (GRCm39) |
missense |
probably damaging |
0.98 |
R5325:Fbxo30
|
UTSW |
10 |
11,166,846 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5463:Fbxo30
|
UTSW |
10 |
11,166,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R5534:Fbxo30
|
UTSW |
10 |
11,165,409 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5594:Fbxo30
|
UTSW |
10 |
11,166,223 (GRCm39) |
missense |
probably benign |
0.13 |
R5757:Fbxo30
|
UTSW |
10 |
11,166,165 (GRCm39) |
missense |
probably benign |
0.08 |
R5917:Fbxo30
|
UTSW |
10 |
11,165,262 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6232:Fbxo30
|
UTSW |
10 |
11,165,602 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6472:Fbxo30
|
UTSW |
10 |
11,166,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R6677:Fbxo30
|
UTSW |
10 |
11,166,380 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6802:Fbxo30
|
UTSW |
10 |
11,167,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R7128:Fbxo30
|
UTSW |
10 |
11,165,860 (GRCm39) |
nonsense |
probably null |
|
R8353:Fbxo30
|
UTSW |
10 |
11,166,479 (GRCm39) |
missense |
probably benign |
0.30 |
R8453:Fbxo30
|
UTSW |
10 |
11,166,479 (GRCm39) |
missense |
probably benign |
0.30 |
R8796:Fbxo30
|
UTSW |
10 |
11,165,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R9215:Fbxo30
|
UTSW |
10 |
11,167,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R9702:Fbxo30
|
UTSW |
10 |
11,166,382 (GRCm39) |
missense |
probably benign |
0.04 |
X0012:Fbxo30
|
UTSW |
10 |
11,166,210 (GRCm39) |
missense |
probably benign |
0.00 |
X0066:Fbxo30
|
UTSW |
10 |
11,166,556 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Fbxo30
|
UTSW |
10 |
11,171,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-04-17 |