Incidental Mutation 'R2317:Fbxo30'
ID |
245530 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo30
|
Ensembl Gene |
ENSMUSG00000047648 |
Gene Name |
F-box protein 30 |
Synonyms |
1700026A16Rik |
MMRRC Submission |
040312-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.214)
|
Stock # |
R2317 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
11157074-11173796 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 11166078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 267
(N267D)
|
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: N267D
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000068230 Gene: ENSMUSG00000047648 AA Change: N267D
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: N267D
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117687 Gene: ENSMUSG00000047648 AA Change: N267D
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc102a |
T |
C |
8: 95,634,957 (GRCm39) |
D327G |
probably null |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Cfap126 |
A |
G |
1: 170,953,700 (GRCm39) |
D134G |
possibly damaging |
Het |
Cript |
T |
C |
17: 87,335,139 (GRCm39) |
L19P |
probably benign |
Het |
Cwf19l1 |
A |
C |
19: 44,120,597 (GRCm39) |
L39V |
possibly damaging |
Het |
Eif2b4 |
T |
C |
5: 31,348,920 (GRCm39) |
|
probably null |
Het |
Esp16 |
A |
G |
17: 39,850,738 (GRCm39) |
N39S |
probably benign |
Het |
Gabra6 |
T |
C |
11: 42,208,607 (GRCm39) |
|
probably null |
Het |
Gp1ba |
A |
G |
11: 70,531,473 (GRCm39) |
|
probably benign |
Het |
Klf12 |
C |
T |
14: 100,179,503 (GRCm39) |
R279Q |
probably benign |
Het |
Lats1 |
C |
T |
10: 7,567,540 (GRCm39) |
Q104* |
probably null |
Het |
Myrfl |
A |
G |
10: 116,675,289 (GRCm39) |
Y215H |
possibly damaging |
Het |
Ncoa1 |
A |
G |
12: 4,325,189 (GRCm39) |
I963T |
probably damaging |
Het |
Neurod6 |
A |
G |
6: 55,655,906 (GRCm39) |
Y244H |
probably damaging |
Het |
Nodal |
T |
C |
10: 61,254,212 (GRCm39) |
M45T |
possibly damaging |
Het |
Nuggc |
A |
G |
14: 65,861,591 (GRCm39) |
E479G |
possibly damaging |
Het |
Pdcd6ip |
T |
C |
9: 113,501,842 (GRCm39) |
D467G |
probably benign |
Het |
Pnmt |
C |
A |
11: 98,277,677 (GRCm39) |
Q74K |
probably benign |
Het |
Slc25a36 |
G |
A |
9: 96,961,235 (GRCm39) |
T267I |
probably damaging |
Het |
Slc35e3 |
A |
G |
10: 117,580,804 (GRCm39) |
S167P |
probably damaging |
Het |
Sprr2f |
C |
A |
3: 92,273,390 (GRCm39) |
P63H |
unknown |
Het |
Stt3a |
T |
C |
9: 36,659,371 (GRCm39) |
I323V |
probably benign |
Het |
Tedc2 |
A |
G |
17: 24,435,358 (GRCm39) |
S344P |
probably benign |
Het |
Unc13b |
A |
G |
4: 43,245,514 (GRCm39) |
D3722G |
probably damaging |
Het |
Zfp35 |
T |
C |
18: 24,136,555 (GRCm39) |
Y300H |
probably damaging |
Het |
Zfp959 |
A |
G |
17: 56,204,326 (GRCm39) |
D121G |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTGCTGCTTTAGATATCC -3'
(R):5'- TTCTGAAGTACCATCAGCTTCC -3'
Sequencing Primer
(F):5'- TTCTGCCACAAGAGACATTGG -3'
(R):5'- AGCTTCCACACAATCTCCATTTG -3'
|
Posted On |
2014-10-30 |