Incidental Mutation 'R5757:Fbxo30'
| ID |
445105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo30
|
| Ensembl Gene |
ENSMUSG00000047648 |
| Gene Name |
F-box protein 30 |
| Synonyms |
1700026A16Rik |
| MMRRC Submission |
043360-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R5757 (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 A
at 11166165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 296
(C296S)
|
| 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: C296S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000068230
Gene: ENSMUSG00000047648
AA Change: C296S
| 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: C296S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117687
Gene: ENSMUSG00000047648
AA Change: C296S
| 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: 99.5%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
T |
11: 109,933,794 (GRCm39) |
A1204T |
probably benign |
Het |
| Adcy5 |
G |
T |
16: 35,092,451 (GRCm39) |
R604L |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,419,877 (GRCm39) |
N33K |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,937,909 (GRCm39) |
Y406C |
probably damaging |
Het |
| Asgr1 |
A |
C |
11: 69,945,778 (GRCm39) |
H18P |
probably benign |
Het |
| Asph |
A |
C |
4: 9,637,722 (GRCm39) |
|
probably null |
Het |
| Brd4 |
G |
A |
17: 32,420,272 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
T |
A |
1: 54,302,779 (GRCm39) |
I133N |
probably damaging |
Het |
| Cdon |
A |
C |
9: 35,364,068 (GRCm39) |
H62P |
probably damaging |
Het |
| Clec4b1 |
T |
A |
6: 123,046,713 (GRCm39) |
Y157* |
probably null |
Het |
| Clip1 |
G |
A |
5: 123,765,460 (GRCm39) |
T810I |
probably benign |
Het |
| Crocc |
A |
T |
4: 140,770,875 (GRCm39) |
L184Q |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,143,172 (GRCm39) |
G4226R |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,794,025 (GRCm39) |
K883E |
probably benign |
Het |
| Glyr1 |
A |
T |
16: 4,836,856 (GRCm39) |
M436K |
probably benign |
Het |
| Gm525 |
A |
T |
11: 88,965,872 (GRCm39) |
Q38L |
probably benign |
Het |
| Gnas |
T |
A |
2: 174,187,040 (GRCm39) |
V941D |
probably damaging |
Het |
| Hectd4 |
G |
C |
5: 121,486,682 (GRCm39) |
E3226Q |
possibly damaging |
Het |
| Ints13 |
G |
A |
6: 146,451,604 (GRCm39) |
R714C |
probably benign |
Het |
| Kif12 |
A |
T |
4: 63,088,755 (GRCm39) |
W182R |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,835,548 (GRCm39) |
L1272P |
probably damaging |
Het |
| Klhl14 |
A |
C |
18: 21,687,791 (GRCm39) |
Y544D |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,945,372 (GRCm39) |
|
probably null |
Het |
| Lama1 |
G |
A |
17: 68,045,782 (GRCm39) |
R229Q |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,580,944 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,871,429 (GRCm39) |
C498S |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,655,362 (GRCm39) |
V1198E |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,253,528 (GRCm39) |
D950G |
probably damaging |
Het |
| Obsl1 |
G |
T |
1: 75,469,699 (GRCm39) |
A1106D |
probably damaging |
Het |
| Or5m9 |
T |
A |
2: 85,876,910 (GRCm39) |
V28E |
possibly damaging |
Het |
| Or8k27 |
T |
C |
2: 86,275,922 (GRCm39) |
I135V |
probably benign |
Het |
| Otog |
T |
A |
7: 45,890,545 (GRCm39) |
|
probably null |
Het |
| Oxtr |
A |
T |
6: 112,454,222 (GRCm39) |
I14N |
probably damaging |
Het |
| Pfkfb3 |
A |
T |
2: 11,485,141 (GRCm39) |
S490R |
probably damaging |
Het |
| Polk |
A |
C |
13: 96,620,760 (GRCm39) |
M560R |
probably benign |
Het |
| Polq |
C |
T |
16: 36,907,043 (GRCm39) |
H2335Y |
probably benign |
Het |
| Prr14 |
T |
A |
7: 127,074,725 (GRCm39) |
V419D |
possibly damaging |
Het |
| Rflnb |
A |
G |
11: 75,912,992 (GRCm39) |
V132A |
probably damaging |
Het |
| Rxfp1 |
T |
G |
3: 79,568,627 (GRCm39) |
I283L |
possibly damaging |
Het |
| Ryr3 |
G |
A |
2: 112,672,320 (GRCm39) |
R1384C |
probably damaging |
Het |
| Scnn1g |
T |
A |
7: 121,337,438 (GRCm39) |
C100S |
probably damaging |
Het |
| Sfrp2 |
G |
C |
3: 83,673,933 (GRCm39) |
G29R |
possibly damaging |
Het |
| Spop |
A |
G |
11: 95,381,208 (GRCm39) |
H312R |
probably damaging |
Het |
| Tpx2 |
A |
G |
2: 152,727,151 (GRCm39) |
|
probably null |
Het |
| Wdr4 |
A |
T |
17: 31,718,063 (GRCm39) |
V337E |
probably damaging |
Het |
| Zbtb11 |
A |
G |
16: 55,827,392 (GRCm39) |
N953D |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably 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 |
|
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 |
|
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'- GTCTCCATGCTACTGCGAATG -3'
(R):5'- TGTACTATCTGGCAAAGCACTG -3'
Sequencing Primer
(F):5'- CTCCATGCTACTGCGAATGAAATGG -3'
(R):5'- GCACTGAAAGGACTTATTTCCCTCAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation