Incidental Mutation 'R5463:Fbxo30'
| ID |
433109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo30
|
| Ensembl Gene |
ENSMUSG00000047648 |
| Gene Name |
F-box protein 30 |
| Synonyms |
1700026A16Rik |
| MMRRC Submission |
043025-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R5463 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
11157074-11173796 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11166813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 512
(Y512H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070300]
[ENSMUST00000129456]
|
| AlphaFold |
Q8BJL1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070300
AA Change: Y512H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068230
Gene: ENSMUSG00000047648
AA Change: Y512H
| 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 damaging
Transcript: ENSMUST00000129456
AA Change: Y512H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117687
Gene: ENSMUSG00000047648
AA Change: Y512H
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
C |
10: 115,406,104 (GRCm39) |
|
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,782,200 (GRCm39) |
S71T |
possibly damaging |
Het |
| BC048507 |
T |
C |
13: 68,011,817 (GRCm39) |
Y65H |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,518,720 (GRCm39) |
E1221G |
probably benign |
Het |
| Calb1 |
G |
T |
4: 15,885,656 (GRCm39) |
V76L |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,879,689 (GRCm39) |
K500* |
probably null |
Het |
| Csmd1 |
G |
A |
8: 16,034,860 (GRCm39) |
T2437I |
probably benign |
Het |
| Cyp27b1 |
G |
A |
10: 126,887,966 (GRCm39) |
V493I |
possibly damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,740,554 (GRCm39) |
T29S |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,298,328 (GRCm39) |
V624A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,069,140 (GRCm39) |
I2464V |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,721,254 (GRCm39) |
|
probably null |
Het |
| Erap1 |
C |
T |
13: 74,794,533 (GRCm39) |
T64I |
probably damaging |
Het |
| Erbb3 |
A |
T |
10: 128,405,948 (GRCm39) |
Y1156* |
probably null |
Het |
| Fam168a |
G |
A |
7: 100,484,602 (GRCm39) |
A231T |
probably benign |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Gcnt2 |
A |
T |
13: 41,071,650 (GRCm39) |
I98F |
possibly damaging |
Het |
| Got1 |
G |
A |
19: 43,493,036 (GRCm39) |
T295I |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,844,010 (GRCm39) |
E3538G |
probably damaging |
Het |
| Kcnmb4 |
A |
T |
10: 116,309,410 (GRCm39) |
V6E |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Letmd1 |
C |
T |
15: 100,367,009 (GRCm39) |
A2V |
probably damaging |
Het |
| Lynx1 |
G |
T |
15: 74,623,462 (GRCm39) |
Y28* |
probably null |
Het |
| Mast1 |
T |
C |
8: 85,652,136 (GRCm39) |
E304G |
probably damaging |
Het |
| Nipa1 |
G |
A |
7: 55,629,205 (GRCm39) |
Q303* |
probably null |
Het |
| Nomo1 |
G |
A |
7: 45,712,426 (GRCm39) |
R657H |
possibly damaging |
Het |
| Or51b4 |
C |
T |
7: 103,530,541 (GRCm39) |
R303H |
probably benign |
Het |
| Pcdha7 |
T |
A |
18: 37,108,628 (GRCm39) |
L551Q |
probably damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,525,930 (GRCm39) |
Y267H |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,723,168 (GRCm39) |
D223G |
probably damaging |
Het |
| Prph |
G |
A |
15: 98,953,281 (GRCm39) |
G65D |
probably benign |
Het |
| Pskh1 |
T |
C |
8: 106,639,464 (GRCm39) |
L48P |
probably benign |
Het |
| Ptdss1 |
C |
A |
13: 67,093,365 (GRCm39) |
N68K |
probably damaging |
Het |
| Rexo5 |
G |
A |
7: 119,433,526 (GRCm39) |
G495R |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,723,448 (GRCm39) |
A4204S |
possibly damaging |
Het |
| Serpinb9 |
G |
A |
13: 33,199,659 (GRCm39) |
S318N |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,586,638 (GRCm39) |
R383H |
probably benign |
Het |
| Trim26 |
A |
G |
17: 37,162,016 (GRCm39) |
H145R |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,695,286 (GRCm39) |
Y286* |
probably null |
Het |
| Vmn1r181 |
A |
G |
7: 23,683,787 (GRCm39) |
N84S |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,873,689 (GRCm39) |
Q207K |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,351,053 (GRCm39) |
T427I |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAGGTATATCTGATAGCCGC -3'
(R):5'- TGTCGATGGGCAAAATCTACG -3'
Sequencing Primer
(F):5'- ATCTGATAGCCGCATGACTG -3'
(R):5'- TCTACGCTGAGAATAGGTACAAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation