Incidental Mutation 'IGL01148:Fbxl18'
ID |
51222 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxl18
|
Ensembl Gene |
ENSMUSG00000066640 |
Gene Name |
F-box and leucine-rich repeat protein 18 |
Synonyms |
B130019G13Rik, C330021B20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL01148
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
142852701-142881176 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142871580 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 488
(M488V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035985]
[ENSMUST00000110766]
|
AlphaFold |
E9PYR1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035985
AA Change: M488V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000041700 Gene: ENSMUSG00000066640 AA Change: M488V
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
FBOX
|
20 |
61 |
1.69e-2 |
SMART |
SCOP:d1yrga_
|
307 |
610 |
2e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110766
AA Change: M552V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106394 Gene: ENSMUSG00000066640 AA Change: M552V
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
78 |
N/A |
INTRINSIC |
FBOX
|
84 |
125 |
1.1e-4 |
SMART |
SCOP:d1yrga_
|
371 |
674 |
2e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156725
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
A |
T |
11: 69,781,729 (GRCm39) |
C64* |
probably null |
Het |
Ccng2 |
G |
A |
5: 93,418,746 (GRCm39) |
D124N |
probably damaging |
Het |
Cttnbp2 |
G |
A |
6: 18,382,817 (GRCm39) |
P1317L |
probably damaging |
Het |
Dsg1a |
T |
A |
18: 20,453,982 (GRCm39) |
V29E |
probably damaging |
Het |
Exoc6b |
T |
C |
6: 84,885,208 (GRCm39) |
K244E |
probably benign |
Het |
Fastkd5 |
A |
G |
2: 130,456,605 (GRCm39) |
F662L |
probably benign |
Het |
Gas2l3 |
C |
T |
10: 89,249,366 (GRCm39) |
G584D |
probably benign |
Het |
Gm28042 |
T |
C |
2: 119,869,519 (GRCm39) |
F405L |
possibly damaging |
Het |
Gtf3c2 |
T |
C |
5: 31,317,168 (GRCm39) |
K635E |
probably damaging |
Het |
H2-Q2 |
A |
G |
17: 35,561,654 (GRCm39) |
Y48C |
probably damaging |
Het |
Hddc2 |
T |
C |
10: 31,192,330 (GRCm39) |
I78T |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,273,969 (GRCm39) |
M2708K |
probably benign |
Het |
Ift88 |
T |
C |
14: 57,677,189 (GRCm39) |
S119P |
probably benign |
Het |
Mta2 |
T |
C |
19: 8,925,668 (GRCm39) |
C388R |
probably damaging |
Het |
Mymx |
G |
T |
17: 45,912,594 (GRCm39) |
|
probably benign |
Het |
Naga |
A |
G |
15: 82,214,861 (GRCm39) |
Y366H |
possibly damaging |
Het |
Nlrp9a |
A |
G |
7: 26,257,006 (GRCm39) |
E208G |
probably damaging |
Het |
Nr4a2 |
C |
T |
2: 57,001,983 (GRCm39) |
V94M |
probably benign |
Het |
Or4c124 |
G |
T |
2: 89,156,368 (GRCm39) |
T52K |
probably benign |
Het |
Osbpl8 |
G |
T |
10: 111,112,424 (GRCm39) |
|
probably benign |
Het |
Pitpnb |
T |
A |
5: 111,486,222 (GRCm39) |
V42D |
probably damaging |
Het |
Pitrm1 |
A |
G |
13: 6,623,141 (GRCm39) |
R801G |
probably benign |
Het |
Pthlh |
G |
A |
6: 147,154,073 (GRCm39) |
T174M |
probably benign |
Het |
Sco2 |
T |
C |
15: 89,255,924 (GRCm39) |
I243M |
probably benign |
Het |
Sema5a |
G |
A |
15: 32,681,641 (GRCm39) |
V907M |
probably benign |
Het |
Semp2l1 |
A |
G |
1: 32,584,735 (GRCm39) |
S392P |
possibly damaging |
Het |
Spata31e2 |
T |
C |
1: 26,724,253 (GRCm39) |
E309G |
probably benign |
Het |
Stac2 |
T |
A |
11: 97,934,387 (GRCm39) |
K106* |
probably null |
Het |
Tas2r105 |
T |
A |
6: 131,663,815 (GRCm39) |
R204S |
probably damaging |
Het |
Tgm5 |
A |
G |
2: 120,877,156 (GRCm39) |
|
probably null |
Het |
Trpm1 |
A |
G |
7: 63,893,312 (GRCm39) |
I939V |
probably damaging |
Het |
Ttll11 |
T |
A |
2: 35,674,205 (GRCm39) |
N574I |
probably damaging |
Het |
Zfand3 |
A |
T |
17: 30,354,374 (GRCm39) |
T64S |
probably benign |
Het |
Zfyve26 |
G |
A |
12: 79,307,644 (GRCm39) |
H312Y |
probably benign |
Het |
|
Other mutations in Fbxl18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1384:Fbxl18
|
UTSW |
5 |
142,871,978 (GRCm39) |
missense |
probably damaging |
0.96 |
R1725:Fbxl18
|
UTSW |
5 |
142,872,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R1873:Fbxl18
|
UTSW |
5 |
142,871,978 (GRCm39) |
missense |
probably damaging |
0.96 |
R1874:Fbxl18
|
UTSW |
5 |
142,871,978 (GRCm39) |
missense |
probably damaging |
0.96 |
R1875:Fbxl18
|
UTSW |
5 |
142,871,978 (GRCm39) |
missense |
probably damaging |
0.96 |
R2011:Fbxl18
|
UTSW |
5 |
142,858,214 (GRCm39) |
missense |
probably benign |
0.00 |
R2186:Fbxl18
|
UTSW |
5 |
142,864,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R4977:Fbxl18
|
UTSW |
5 |
142,871,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R5011:Fbxl18
|
UTSW |
5 |
142,872,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R5025:Fbxl18
|
UTSW |
5 |
142,872,068 (GRCm39) |
missense |
probably damaging |
0.98 |
R5567:Fbxl18
|
UTSW |
5 |
142,881,022 (GRCm39) |
unclassified |
probably benign |
|
R5570:Fbxl18
|
UTSW |
5 |
142,881,022 (GRCm39) |
unclassified |
probably benign |
|
R5654:Fbxl18
|
UTSW |
5 |
142,871,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:Fbxl18
|
UTSW |
5 |
142,864,475 (GRCm39) |
nonsense |
probably null |
|
R6010:Fbxl18
|
UTSW |
5 |
142,858,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R6302:Fbxl18
|
UTSW |
5 |
142,874,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R7699:Fbxl18
|
UTSW |
5 |
142,871,504 (GRCm39) |
missense |
probably damaging |
0.96 |
R8075:Fbxl18
|
UTSW |
5 |
142,871,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R8952:Fbxl18
|
UTSW |
5 |
142,871,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R9267:Fbxl18
|
UTSW |
5 |
142,880,870 (GRCm39) |
missense |
possibly damaging |
0.60 |
X0023:Fbxl18
|
UTSW |
5 |
142,872,126 (GRCm39) |
missense |
probably benign |
0.00 |
X0060:Fbxl18
|
UTSW |
5 |
142,871,326 (GRCm39) |
missense |
possibly damaging |
0.50 |
Z1176:Fbxl18
|
UTSW |
5 |
142,872,179 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Posted On |
2013-06-21 |