Incidental Mutation 'R0014:Fbxo30'
| ID |
8057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo30
|
| Ensembl Gene |
ENSMUSG00000047648 |
| Gene Name |
F-box protein 30 |
| Synonyms |
1700026A16Rik |
| MMRRC Submission |
038309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R0014 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
11157074-11173796 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 11165603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 108
(Y108*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070300]
[ENSMUST00000129456]
|
| AlphaFold |
Q8BJL1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000070300
AA Change: Y108*
|
| SMART Domains |
Protein: ENSMUSP00000068230
Gene: ENSMUSG00000047648
AA Change: Y108*
| 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 null
Transcript: ENSMUST00000129456
AA Change: Y108*
|
| SMART Domains |
Protein: ENSMUSP00000117687
Gene: ENSMUSG00000047648
AA Change: Y108*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 75.1%
- 3x: 61.1%
- 10x: 30.7%
- 20x: 14.1%
|
| Validation Efficiency |
90% (62/69) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
C |
T |
12: 21,386,645 (GRCm39) |
E445K |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,250,547 (GRCm39) |
V399A |
possibly damaging |
Het |
| Ankrd52 |
C |
A |
10: 128,222,321 (GRCm39) |
T583K |
probably benign |
Het |
| Ccr5 |
T |
C |
9: 123,924,658 (GRCm39) |
F87S |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,568,712 (GRCm39) |
C10* |
probably null |
Het |
| Cngb3 |
T |
C |
4: 19,396,685 (GRCm39) |
I346T |
probably benign |
Het |
| Degs1l |
T |
C |
1: 180,882,696 (GRCm39) |
F153L |
possibly damaging |
Het |
| Dmbx1 |
G |
T |
4: 115,775,221 (GRCm39) |
T358K |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,787,178 (GRCm39) |
|
probably null |
Het |
| Dpyd |
T |
C |
3: 118,935,584 (GRCm39) |
S670P |
probably damaging |
Het |
| Epc2 |
A |
T |
2: 49,412,537 (GRCm39) |
K172* |
probably null |
Het |
| Exog |
T |
C |
9: 119,281,344 (GRCm39) |
I218T |
probably damaging |
Het |
| F2rl2 |
A |
T |
13: 95,837,417 (GRCm39) |
N154I |
probably damaging |
Het |
| Fhad1 |
A |
T |
4: 141,655,719 (GRCm39) |
L795Q |
probably damaging |
Het |
| Fyttd1 |
G |
A |
16: 32,725,924 (GRCm39) |
R175Q |
probably damaging |
Het |
| Gbp5 |
T |
A |
3: 142,212,496 (GRCm39) |
C395S |
probably damaging |
Het |
| Gen1 |
T |
C |
12: 11,291,642 (GRCm39) |
N716D |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,947,168 (GRCm39) |
D347G |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,882,304 (GRCm39) |
L163P |
probably damaging |
Het |
| Hmox2 |
T |
A |
16: 4,582,897 (GRCm39) |
L210Q |
probably damaging |
Het |
| Khdrbs3 |
A |
G |
15: 68,896,684 (GRCm39) |
T115A |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,686,248 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
A |
C |
2: 155,279,963 (GRCm39) |
S18A |
possibly damaging |
Het |
| Neb |
G |
A |
2: 52,177,168 (GRCm39) |
A1391V |
probably damaging |
Het |
| Nek6 |
T |
C |
2: 38,448,856 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,730,465 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
G |
A |
5: 3,676,141 (GRCm39) |
|
probably benign |
Het |
| Pi4kb |
T |
G |
3: 94,906,208 (GRCm39) |
I612S |
probably damaging |
Het |
| Pitx2 |
T |
G |
3: 129,012,148 (GRCm39) |
S193A |
possibly damaging |
Het |
| Psma8 |
A |
G |
18: 14,859,587 (GRCm39) |
I86V |
possibly damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,364,065 (GRCm39) |
L426P |
probably damaging |
Het |
| Tut1 |
T |
A |
19: 8,939,811 (GRCm39) |
L265Q |
possibly damaging |
Het |
| Zfp458 |
A |
G |
13: 67,406,154 (GRCm39) |
V95A |
possibly damaging |
Het |
|
| Other mutations in Fbxo30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00914:Fbxo30
|
APN |
10 |
11,166,283 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Protein Function and Prediction |
Fbxo30 encodes a cytoplasmic, soluble F-box protein family member (OMIM: *609101). F-box proteins form SCF (SKP1, cullin, F-box) complexes that act as protein ubiquitin ligases. Fbxo30 has not been characterized. |
| Posted On |
2012-11-20 |
Incidental Mutation