Incidental Mutation 'R6802:Fbxo30'
| ID |
533388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo30
|
| Ensembl Gene |
ENSMUSG00000047648 |
| Gene Name |
F-box protein 30 |
| Synonyms |
1700026A16Rik |
| MMRRC Submission |
044915-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R6802 (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 11167224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 649
(G649C)
|
| 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: G649C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068230
Gene: ENSMUSG00000047648
AA Change: G649C
| 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: G649C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117687
Gene: ENSMUSG00000047648
AA Change: G649C
| 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: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (54/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
A |
T |
7: 115,698,725 (GRCm39) |
K38N |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,692,791 (GRCm39) |
I408N |
possibly damaging |
Het |
| Apold1 |
G |
A |
6: 134,960,693 (GRCm39) |
R49H |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,259,677 (GRCm39) |
M597K |
probably benign |
Het |
| Bsn |
C |
T |
9: 107,987,823 (GRCm39) |
|
probably benign |
Het |
| Ccdc177 |
A |
T |
12: 80,806,057 (GRCm39) |
D72E |
probably damaging |
Het |
| Coa8 |
G |
T |
12: 111,717,625 (GRCm39) |
G162W |
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,463,656 (GRCm39) |
|
probably null |
Het |
| Ctsj |
A |
T |
13: 61,150,888 (GRCm39) |
L190M |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,750 (GRCm39) |
F285S |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,314,516 (GRCm39) |
V4051E |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,006,925 (GRCm39) |
D243V |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,192,440 (GRCm39) |
S590P |
unknown |
Het |
| Focad |
G |
A |
4: 88,262,921 (GRCm39) |
V973I |
unknown |
Het |
| Glb1l3 |
T |
C |
9: 26,770,648 (GRCm39) |
|
probably null |
Het |
| Gli2 |
G |
A |
1: 118,769,795 (GRCm39) |
R586C |
probably damaging |
Het |
| Gm6401 |
T |
A |
14: 41,788,874 (GRCm39) |
E65V |
probably damaging |
Het |
| Gml2 |
T |
A |
15: 74,696,095 (GRCm39) |
L163H |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,744,216 (GRCm39) |
Q229L |
probably benign |
Het |
| Gtf2h2 |
T |
C |
13: 100,617,051 (GRCm39) |
M252V |
probably benign |
Het |
| Hsf4 |
G |
A |
8: 106,001,300 (GRCm39) |
G309S |
probably damaging |
Het |
| Iglc1 |
T |
C |
16: 18,880,660 (GRCm39) |
|
probably benign |
Het |
| Irgq |
A |
G |
7: 24,231,076 (GRCm39) |
E89G |
probably benign |
Het |
| Kcnj6 |
T |
C |
16: 94,563,436 (GRCm39) |
N354S |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,039,392 (GRCm39) |
H301R |
probably damaging |
Het |
| Mc4r |
C |
A |
18: 66,992,488 (GRCm39) |
M208I |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,846,953 (GRCm39) |
S208P |
probably benign |
Het |
| Neil2 |
A |
G |
14: 63,429,263 (GRCm39) |
F10S |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
| Or12k7 |
A |
G |
2: 36,958,427 (GRCm39) |
M37V |
probably benign |
Het |
| Or4c100 |
A |
G |
2: 88,355,941 (GRCm39) |
T5A |
probably benign |
Het |
| Or8k22 |
G |
T |
2: 86,163,529 (GRCm39) |
T57K |
possibly damaging |
Het |
| Pacs1 |
T |
C |
19: 5,202,812 (GRCm39) |
I357V |
probably damaging |
Het |
| Pla2g15 |
T |
C |
8: 106,877,213 (GRCm39) |
L32P |
probably damaging |
Het |
| Pms1 |
A |
T |
1: 53,245,951 (GRCm39) |
S529R |
probably benign |
Het |
| Prkra |
A |
T |
2: 76,463,881 (GRCm39) |
D260E |
probably damaging |
Het |
| Qsox1 |
A |
C |
1: 155,671,139 (GRCm39) |
F127V |
probably damaging |
Het |
| Rabgap1l |
A |
T |
1: 160,561,250 (GRCm39) |
V161E |
probably benign |
Het |
| Robo1 |
T |
G |
16: 72,730,201 (GRCm39) |
V214G |
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,701,852 (GRCm39) |
A2935V |
probably damaging |
Het |
| Sgtb |
A |
T |
13: 104,268,558 (GRCm39) |
Q198L |
probably benign |
Het |
| Slc39a12 |
C |
T |
2: 14,424,896 (GRCm39) |
L376F |
probably benign |
Het |
| Socs1 |
C |
A |
16: 10,602,222 (GRCm39) |
V172L |
probably benign |
Het |
| Sprr2k |
A |
G |
3: 92,340,671 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,949,939 (GRCm39) |
|
probably benign |
Het |
| Tph2 |
A |
T |
10: 115,020,778 (GRCm39) |
M6K |
probably damaging |
Het |
| Trav16 |
T |
A |
14: 53,980,941 (GRCm39) |
C43* |
probably null |
Het |
| Ttll5 |
A |
G |
12: 85,926,160 (GRCm39) |
E318G |
probably damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,932,351 (GRCm39) |
I86N |
probably damaging |
Het |
| Zdhhc19 |
T |
C |
16: 32,325,176 (GRCm39) |
S165P |
possibly damaging |
Het |
| Zfp352 |
A |
T |
4: 90,113,437 (GRCm39) |
T526S |
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 |
|
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 |
|
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'- GAGTTCAGCCATGTGTATCTACAG -3'
(R):5'- ATGGTAAGATGCAGTCACTGTG -3'
Sequencing Primer
(F):5'- TCAGCCATGTGTATCTACAGTATTAG -3'
(R):5'- TGGAACTCACTTTGTAGACCCGG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation