Incidental Mutation 'R2186:Fbxl18'
| ID |
237760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl18
|
| Ensembl Gene |
ENSMUSG00000066640 |
| Gene Name |
F-box and leucine-rich repeat protein 18 |
| Synonyms |
B130019G13Rik, C330021B20Rik |
| MMRRC Submission |
040188-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2186 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
142852701-142881176 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 142864516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 686
(V686M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035985]
[ENSMUST00000110766]
|
| AlphaFold |
E9PYR1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035985
AA Change: V622M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041700
Gene: ENSMUSG00000066640
AA Change: V622M
| 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: V686M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106394
Gene: ENSMUSG00000066640
AA Change: V686M
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181842
|
| Meta Mutation Damage Score |
0.1316 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (51/51) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,099,340 (GRCm39) |
N29S |
probably damaging |
Het |
| Ap1b1 |
T |
C |
11: 4,965,737 (GRCm39) |
V92A |
possibly damaging |
Het |
| Asgr1 |
G |
A |
11: 69,947,075 (GRCm39) |
R66Q |
probably benign |
Het |
| Atp8b4 |
T |
A |
2: 126,200,780 (GRCm39) |
Q796L |
probably damaging |
Het |
| Camk4 |
A |
C |
18: 33,315,394 (GRCm39) |
D307A |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,447,041 (GRCm39) |
I223K |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,938,468 (GRCm39) |
Y725C |
probably damaging |
Het |
| Cep164 |
T |
A |
9: 45,679,876 (GRCm39) |
Q1119L |
probably damaging |
Het |
| Cep85l |
G |
A |
10: 53,224,714 (GRCm39) |
P292S |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,462,576 (GRCm39) |
|
probably null |
Het |
| Cilk1 |
C |
T |
9: 78,038,769 (GRCm39) |
T6M |
probably benign |
Het |
| Cts8 |
C |
A |
13: 61,399,545 (GRCm39) |
C138F |
probably damaging |
Het |
| Dis3l |
C |
A |
9: 64,246,894 (GRCm39) |
E54* |
probably null |
Het |
| Dnaja1 |
T |
A |
4: 40,732,853 (GRCm39) |
D367E |
probably benign |
Het |
| Duoxa2 |
T |
C |
2: 122,129,655 (GRCm39) |
I45T |
probably damaging |
Het |
| EU599041 |
C |
T |
7: 42,875,333 (GRCm39) |
|
noncoding transcript |
Het |
| Exoc5 |
T |
C |
14: 49,252,936 (GRCm39) |
M561V |
probably benign |
Het |
| Fam184a |
T |
C |
10: 53,514,290 (GRCm39) |
I296V |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,318 (GRCm39) |
S2088P |
probably damaging |
Het |
| Fus |
G |
A |
7: 127,584,706 (GRCm39) |
|
probably benign |
Het |
| Gpr183 |
T |
A |
14: 122,191,727 (GRCm39) |
I265L |
probably benign |
Het |
| Herc1 |
T |
G |
9: 66,347,183 (GRCm39) |
L2013V |
probably benign |
Het |
| Iqca1 |
T |
C |
1: 90,009,066 (GRCm39) |
K430R |
probably benign |
Het |
| Iqca1l |
C |
T |
5: 24,759,524 (GRCm39) |
G82E |
probably damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,090,500 (GRCm39) |
C20R |
probably damaging |
Het |
| Kmt2c |
C |
A |
5: 25,492,110 (GRCm39) |
C852F |
probably damaging |
Het |
| Lamb1 |
A |
T |
12: 31,368,466 (GRCm39) |
K1199* |
probably null |
Het |
| Lrba |
A |
G |
3: 86,211,643 (GRCm39) |
Y421C |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,375,914 (GRCm39) |
L96P |
probably benign |
Het |
| Mcc |
A |
G |
18: 44,945,145 (GRCm39) |
F29S |
possibly damaging |
Het |
| Mlh1 |
T |
C |
9: 111,087,634 (GRCm39) |
|
probably benign |
Het |
| Pals1 |
T |
C |
12: 78,866,145 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
G |
5: 28,599,228 (GRCm39) |
T867A |
unknown |
Het |
| Sdk1 |
T |
A |
5: 142,032,047 (GRCm39) |
S1041T |
probably benign |
Het |
| Serpinb2 |
A |
G |
1: 107,451,694 (GRCm39) |
|
probably null |
Het |
| Serpinb9d |
A |
G |
13: 33,387,030 (GRCm39) |
N366S |
possibly damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,046,792 (GRCm39) |
S251P |
probably benign |
Het |
| Slc45a1 |
T |
C |
4: 150,722,708 (GRCm39) |
Y392C |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,758,220 (GRCm39) |
C338S |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,824,061 (GRCm39) |
|
probably null |
Het |
| Vnn1 |
A |
T |
10: 23,773,299 (GRCm39) |
I109L |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,925,528 (GRCm39) |
V1312A |
probably benign |
Het |
| Zbed6 |
A |
G |
1: 133,585,817 (GRCm39) |
S507P |
probably damaging |
Het |
| Zfp28 |
A |
G |
7: 6,397,497 (GRCm39) |
H644R |
probably damaging |
Het |
| Zfp286 |
A |
G |
11: 62,671,287 (GRCm39) |
V262A |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,807,962 (GRCm39) |
M1694K |
probably benign |
Het |
|
| Other mutations in Fbxl18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01148:Fbxl18
|
APN |
5 |
142,871,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCATGCTGCTAGAATCTGGTG -3'
(R):5'- AGTGGCTAGCCTCACTCATC -3'
Sequencing Primer
(F):5'- GCTAGAATCTGGTGCTCCATC -3'
(R):5'- ATCCCTGGAGTCAAGTCCCTAGAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation