Incidental Mutation 'R6677:Fbxo30'
| ID |
527316 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo30
|
| Ensembl Gene |
ENSMUSG00000047648 |
| Gene Name |
F-box protein 30 |
| Synonyms |
1700026A16Rik |
| MMRRC Submission |
044796-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R6677 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
11157074-11173796 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 11166380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 367
(L367F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070300]
[ENSMUST00000129456]
|
| AlphaFold |
Q8BJL1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070300
AA Change: L367F
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000068230
Gene: ENSMUSG00000047648
AA Change: L367F
| 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 |
possibly damaging
Transcript: ENSMUST00000129456
AA Change: L367F
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117687
Gene: ENSMUSG00000047648
AA Change: L367F
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (31/31) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
G |
T |
8: 87,261,381 (GRCm39) |
H713Q |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,079,869 (GRCm39) |
T1874A |
probably benign |
Het |
| Atl1 |
A |
G |
12: 70,000,218 (GRCm39) |
I289M |
probably damaging |
Het |
| Atp12a |
A |
G |
14: 56,618,311 (GRCm39) |
D654G |
probably damaging |
Het |
| Bbox1 |
C |
A |
2: 110,135,770 (GRCm39) |
D70Y |
probably damaging |
Het |
| Blzf1 |
A |
T |
1: 164,130,181 (GRCm39) |
V50D |
possibly damaging |
Het |
| Ccdc168 |
G |
T |
1: 44,097,859 (GRCm39) |
R1080S |
probably benign |
Het |
| Cfap65 |
C |
A |
1: 74,943,844 (GRCm39) |
D1556Y |
probably damaging |
Het |
| Chrm2 |
A |
T |
6: 36,501,027 (GRCm39) |
N295Y |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,529,145 (GRCm39) |
E843V |
probably benign |
Het |
| Enpp3 |
T |
A |
10: 24,653,855 (GRCm39) |
N701Y |
possibly damaging |
Het |
| Gm4841 |
A |
T |
18: 60,403,652 (GRCm39) |
F147Y |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,485,445 (GRCm39) |
T500A |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,102,228 (GRCm39) |
V1951I |
probably benign |
Het |
| Mgat4b |
A |
G |
11: 50,123,898 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,899,444 (GRCm39) |
V359A |
probably benign |
Het |
| Nhsl1 |
T |
A |
10: 18,401,610 (GRCm39) |
D911E |
probably damaging |
Het |
| Or13a23-ps1 |
T |
G |
7: 140,118,465 (GRCm39) |
F12V |
probably damaging |
Het |
| Polr1b |
T |
C |
2: 128,962,131 (GRCm39) |
|
probably benign |
Het |
| Qrfprl |
A |
T |
6: 65,433,229 (GRCm39) |
I350F |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Saxo2 |
T |
C |
7: 82,284,484 (GRCm39) |
R125G |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,866,953 (GRCm39) |
D103G |
probably damaging |
Het |
| Sfxn2 |
A |
T |
19: 46,570,967 (GRCm39) |
N9I |
possibly damaging |
Het |
| Shroom1 |
G |
A |
11: 53,354,343 (GRCm39) |
A88T |
possibly damaging |
Het |
| Slc24a5 |
G |
T |
2: 124,922,615 (GRCm39) |
A126S |
possibly damaging |
Het |
| Sult5a1 |
A |
G |
8: 123,876,017 (GRCm39) |
F100L |
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,990,942 (GRCm39) |
Q579R |
possibly damaging |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
| Zic5 |
C |
G |
14: 122,702,566 (GRCm39) |
R55P |
unknown |
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 |
|
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 |
|
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'- AAAGATGTGTATTCAGGTCAAAGGC -3'
(R):5'- CAGATCTATTCCTTGGAGGCC -3'
Sequencing Primer
(F):5'- GGCCAGGATCAAAATTTTCATGGTG -3'
(R):5'- GCCCATGGGATCTTCTGCAAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation