Incidental Mutation 'R4158:Fbxl20'
ID |
315638 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxl20
|
Ensembl Gene |
ENSMUSG00000020883 |
Gene Name |
F-box and leucine-rich repeat protein 20 |
Synonyms |
Scrapper, Scr, 4632423N09Rik, Fbl2, 2610511F20Rik, C86145 |
MMRRC Submission |
041001-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.297)
|
Stock # |
R4158 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
97973382-98041229 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 97986220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119003
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103143]
[ENSMUST00000147971]
[ENSMUST00000150378]
|
AlphaFold |
Q9CZV8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000103143
|
SMART Domains |
Protein: ENSMUSP00000099432 Gene: ENSMUSG00000020883
Domain | Start | End | E-Value | Type |
FBOX
|
28 |
68 |
2.62e-8 |
SMART |
LRR
|
90 |
115 |
2.02e-1 |
SMART |
LRR
|
116 |
141 |
1.77e1 |
SMART |
LRR
|
142 |
167 |
7.9e-4 |
SMART |
LRR_CC
|
168 |
193 |
4.61e-5 |
SMART |
LRR
|
194 |
219 |
7.15e-2 |
SMART |
LRR
|
220 |
245 |
1.67e-2 |
SMART |
LRR
|
246 |
271 |
1.2e-3 |
SMART |
LRR
|
272 |
297 |
2.61e-4 |
SMART |
LRR
|
298 |
323 |
1.26e-2 |
SMART |
LRR_CC
|
324 |
349 |
1.77e-6 |
SMART |
LRR
|
353 |
377 |
6.06e2 |
SMART |
LRR
|
378 |
403 |
2.14e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135969
|
Predicted Effect |
unknown
Transcript: ENSMUST00000147971
AA Change: T133A
|
SMART Domains |
Protein: ENSMUSP00000123507 Gene: ENSMUSG00000020883 AA Change: T133A
Domain | Start | End | E-Value | Type |
LRR
|
14 |
39 |
7.15e-2 |
SMART |
LRR
|
40 |
65 |
1.67e-2 |
SMART |
LRR
|
66 |
91 |
1.2e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150378
|
SMART Domains |
Protein: ENSMUSP00000119003 Gene: ENSMUSG00000020883
Domain | Start | End | E-Value | Type |
FBOX
|
30 |
70 |
2.62e-8 |
SMART |
LRR
|
92 |
117 |
3.69e1 |
SMART |
LRR
|
121 |
146 |
7.9e-4 |
SMART |
LRR_CC
|
147 |
172 |
4.61e-5 |
SMART |
LRR
|
173 |
198 |
7.15e-2 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (38/39) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality, shortened lifespans, decreased body size and altered CNS synaptic transmission. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,103,854 (GRCm39) |
H597R |
probably damaging |
Het |
Adgrf4 |
G |
T |
17: 42,978,568 (GRCm39) |
H258Q |
probably benign |
Het |
Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
Arg1 |
T |
C |
10: 24,798,575 (GRCm39) |
E25G |
probably damaging |
Het |
Arhgef19 |
T |
C |
4: 140,973,660 (GRCm39) |
I49T |
possibly damaging |
Het |
Bsn |
A |
G |
9: 107,990,145 (GRCm39) |
V1869A |
possibly damaging |
Het |
Cep350 |
G |
A |
1: 155,808,621 (GRCm39) |
R652W |
probably damaging |
Het |
Cyp19a1 |
G |
A |
9: 54,093,980 (GRCm39) |
T94I |
probably damaging |
Het |
Dnajc13 |
G |
A |
9: 104,067,641 (GRCm39) |
L1173F |
probably damaging |
Het |
Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
Efcab14 |
A |
C |
4: 115,597,594 (GRCm39) |
D63A |
probably damaging |
Het |
Eomes |
A |
G |
9: 118,308,031 (GRCm39) |
T35A |
probably benign |
Het |
Flcn |
T |
C |
11: 59,691,947 (GRCm39) |
N234S |
probably benign |
Het |
Gm20939 |
A |
T |
17: 95,184,162 (GRCm39) |
Y270F |
possibly damaging |
Het |
Ikzf4 |
A |
T |
10: 128,479,605 (GRCm39) |
|
probably benign |
Het |
Il22b |
T |
C |
10: 118,129,037 (GRCm39) |
T151A |
probably damaging |
Het |
Kcne4 |
A |
G |
1: 78,795,819 (GRCm39) |
N156D |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lrrc45 |
A |
T |
11: 120,609,272 (GRCm39) |
D377V |
possibly damaging |
Het |
Magi3 |
T |
C |
3: 103,958,277 (GRCm39) |
K603E |
probably damaging |
Het |
Mocos |
T |
C |
18: 24,807,303 (GRCm39) |
I345T |
probably damaging |
Het |
Nox4 |
A |
T |
7: 87,046,032 (GRCm39) |
H557L |
possibly damaging |
Het |
Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
Pla2r1 |
A |
T |
2: 60,252,966 (GRCm39) |
I1375K |
probably damaging |
Het |
Ppp6r3 |
T |
A |
19: 3,562,037 (GRCm39) |
H208L |
probably damaging |
Het |
Ptprz1 |
A |
T |
6: 23,001,683 (GRCm39) |
K1258* |
probably null |
Het |
Ptprz1 |
T |
C |
6: 23,022,204 (GRCm39) |
I844T |
possibly damaging |
Het |
Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
Sec31b |
T |
C |
19: 44,513,625 (GRCm39) |
N470S |
probably benign |
Het |
Slc26a7 |
T |
C |
4: 14,544,197 (GRCm39) |
T369A |
probably benign |
Het |
Tex14 |
T |
G |
11: 87,407,595 (GRCm39) |
S900R |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
Vat1l |
T |
A |
8: 115,098,469 (GRCm39) |
M413K |
probably benign |
Het |
Zfp981 |
C |
A |
4: 146,622,080 (GRCm39) |
P335Q |
probably benign |
Het |
Zfp981 |
T |
A |
4: 146,622,339 (GRCm39) |
H421Q |
probably benign |
Het |
|
Other mutations in Fbxl20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00160:Fbxl20
|
APN |
11 |
97,981,500 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL00161:Fbxl20
|
APN |
11 |
97,981,500 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL00590:Fbxl20
|
APN |
11 |
97,983,955 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00944:Fbxl20
|
APN |
11 |
98,004,068 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00966:Fbxl20
|
APN |
11 |
98,001,800 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01344:Fbxl20
|
APN |
11 |
97,990,926 (GRCm39) |
nonsense |
probably null |
|
IGL02394:Fbxl20
|
APN |
11 |
98,004,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R0270:Fbxl20
|
UTSW |
11 |
97,989,329 (GRCm39) |
splice site |
probably benign |
|
R1564:Fbxl20
|
UTSW |
11 |
97,989,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R2227:Fbxl20
|
UTSW |
11 |
97,981,675 (GRCm39) |
missense |
probably benign |
0.12 |
R3902:Fbxl20
|
UTSW |
11 |
97,987,861 (GRCm39) |
missense |
probably benign |
0.03 |
R4516:Fbxl20
|
UTSW |
11 |
97,986,061 (GRCm39) |
unclassified |
probably benign |
|
R4916:Fbxl20
|
UTSW |
11 |
98,019,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R5905:Fbxl20
|
UTSW |
11 |
98,006,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R6791:Fbxl20
|
UTSW |
11 |
98,000,336 (GRCm39) |
missense |
probably benign |
0.05 |
R6916:Fbxl20
|
UTSW |
11 |
98,004,079 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7381:Fbxl20
|
UTSW |
11 |
97,981,614 (GRCm39) |
missense |
probably benign |
0.01 |
R7536:Fbxl20
|
UTSW |
11 |
97,986,209 (GRCm39) |
nonsense |
probably null |
|
X0067:Fbxl20
|
UTSW |
11 |
97,987,804 (GRCm39) |
missense |
probably benign |
0.45 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTAGGCTCCTGGTTCCTG -3'
(R):5'- GTACTCCAGCAGTCCTCTTG -3'
Sequencing Primer
(F):5'- GTGACTACACAAGTTTGTGC -3'
(R):5'- CAAGTGAAATCTGCTGCGACCTG -3'
|
Posted On |
2015-05-14 |