Incidental Mutation 'IGL02388:Fbxo30'
| ID |
291623 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo30
|
| Ensembl Gene |
ENSMUSG00000047648 |
| Gene Name |
F-box protein 30 |
| Synonyms |
1700026A16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
IGL02388
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
11157074-11173796 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 11166122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 281
(N281K)
|
| 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: N281K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000068230
Gene: ENSMUSG00000047648
AA Change: N281K
| 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: N281K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000117687
Gene: ENSMUSG00000047648
AA Change: N281K
| 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 |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930597O21Rik |
A |
T |
6: 66,873,097 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Asphd1 |
A |
T |
7: 126,545,884 (GRCm39) |
|
probably benign |
Het |
| Ccdc77 |
G |
A |
6: 120,308,858 (GRCm39) |
A301V |
probably benign |
Het |
| Cep350 |
G |
T |
1: 155,829,499 (GRCm39) |
T135K |
probably benign |
Het |
| Chrna7 |
A |
T |
7: 62,757,439 (GRCm39) |
D153E |
probably damaging |
Het |
| Clec4b2 |
G |
T |
6: 123,179,187 (GRCm39) |
|
probably null |
Het |
| Cyp2c67 |
T |
C |
19: 39,631,799 (GRCm39) |
N133D |
probably benign |
Het |
| Dglucy |
T |
C |
12: 100,823,257 (GRCm39) |
I484T |
probably damaging |
Het |
| Dtna |
G |
T |
18: 23,730,571 (GRCm39) |
M319I |
probably benign |
Het |
| E2f5 |
T |
A |
3: 14,653,340 (GRCm39) |
M152K |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,290,873 (GRCm39) |
M58K |
probably damaging |
Het |
| Epha1 |
A |
G |
6: 42,341,950 (GRCm39) |
Y367H |
probably damaging |
Het |
| Etv1 |
A |
G |
12: 38,831,798 (GRCm39) |
S32G |
possibly damaging |
Het |
| Fam114a1 |
A |
T |
5: 65,166,323 (GRCm39) |
|
probably benign |
Het |
| Galnt12 |
G |
T |
4: 47,117,941 (GRCm39) |
R412L |
probably damaging |
Het |
| Gm5786 |
T |
A |
12: 59,128,382 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9845 |
T |
C |
3: 39,412,616 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw2 |
A |
G |
1: 53,964,858 (GRCm39) |
V656A |
probably benign |
Het |
| Hpse2 |
A |
T |
19: 43,282,692 (GRCm39) |
V187D |
probably damaging |
Het |
| Itsn2 |
T |
A |
12: 4,679,557 (GRCm39) |
M122K |
possibly damaging |
Het |
| Kcnj11 |
A |
G |
7: 45,749,213 (GRCm39) |
S37P |
probably benign |
Het |
| Kif13b |
T |
C |
14: 65,037,807 (GRCm39) |
I1491T |
probably damaging |
Het |
| Krt36 |
T |
A |
11: 99,995,990 (GRCm39) |
K145* |
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,456,833 (GRCm39) |
I499V |
probably benign |
Het |
| Map3k4 |
G |
T |
17: 12,490,497 (GRCm39) |
N311K |
probably damaging |
Het |
| Mical2 |
C |
A |
7: 111,934,620 (GRCm39) |
H880N |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,528,823 (GRCm39) |
C666* |
probably null |
Het |
| Nlrx1 |
C |
T |
9: 44,175,302 (GRCm39) |
R158H |
probably benign |
Het |
| Or10ag53 |
T |
A |
2: 87,082,295 (GRCm39) |
Y5N |
probably benign |
Het |
| Or10q1 |
C |
A |
19: 13,726,994 (GRCm39) |
H175N |
possibly damaging |
Het |
| Or13a17 |
A |
G |
7: 140,271,024 (GRCm39) |
T69A |
probably benign |
Het |
| Or1e21 |
A |
T |
11: 73,344,106 (GRCm39) |
L311I |
probably benign |
Het |
| Or4a78 |
T |
C |
2: 89,497,316 (GRCm39) |
S305G |
probably benign |
Het |
| Pdgfrl |
A |
G |
8: 41,430,094 (GRCm39) |
R154G |
probably benign |
Het |
| Pitpnb |
T |
C |
5: 111,478,699 (GRCm39) |
F7S |
possibly damaging |
Het |
| Ppm1n |
G |
A |
7: 19,013,097 (GRCm39) |
R285C |
probably damaging |
Het |
| Prdm11 |
A |
T |
2: 92,805,957 (GRCm39) |
I331N |
possibly damaging |
Het |
| Ptprb |
C |
T |
10: 116,203,426 (GRCm39) |
P2066L |
probably damaging |
Het |
| Ric8b |
T |
C |
10: 84,828,135 (GRCm39) |
|
probably benign |
Het |
| Setx |
A |
G |
2: 29,063,665 (GRCm39) |
I2320M |
probably damaging |
Het |
| Skil |
C |
A |
3: 31,165,787 (GRCm39) |
S368* |
probably null |
Het |
| Slc1a5 |
G |
T |
7: 16,519,644 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
C |
2: 126,661,811 (GRCm39) |
V1079G |
possibly damaging |
Het |
| Tulp1 |
A |
G |
17: 28,577,633 (GRCm39) |
F2L |
probably damaging |
Het |
| Ulbp3 |
A |
T |
10: 3,075,050 (GRCm39) |
|
noncoding transcript |
Het |
| Zbtb17 |
A |
G |
4: 141,189,224 (GRCm39) |
Y48C |
probably damaging |
Het |
| Zfp605 |
T |
A |
5: 110,275,506 (GRCm39) |
I208N |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation