Incidental Mutation 'IGL00944:Fbxl20'
ID |
28561 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxl20
|
Ensembl Gene |
ENSMUSG00000020883 |
Gene Name |
F-box and leucine-rich repeat protein 20 |
Synonyms |
Scrapper, Scr, 4632423N09Rik, Fbl2, 2610511F20Rik, C86145 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.297)
|
Stock # |
IGL00944
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
97973382-98041229 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 98004068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 73
(F73L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119003
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103143]
[ENSMUST00000149327]
[ENSMUST00000150378]
|
AlphaFold |
Q9CZV8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103143
AA Change: F71L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099432 Gene: ENSMUSG00000020883 AA Change: F71L
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 |
noncoding transcript
Transcript: ENSMUST00000146399
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149327
AA Change: F57L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000120709 Gene: ENSMUSG00000020883 AA Change: F57L
Domain | Start | End | E-Value | Type |
FBOX
|
14 |
54 |
2.62e-8 |
SMART |
Blast:LRR
|
76 |
101 |
1e-9 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150378
AA Change: F73L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119003 Gene: ENSMUSG00000020883 AA Change: F73L
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp10b |
A |
G |
11: 43,092,988 (GRCm39) |
N441S |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,974,166 (GRCm39) |
C2383R |
probably benign |
Het |
Dapk3 |
G |
T |
10: 81,019,910 (GRCm39) |
|
probably null |
Het |
Dock6 |
T |
C |
9: 21,757,930 (GRCm39) |
D58G |
possibly damaging |
Het |
Etl4 |
G |
A |
2: 20,534,865 (GRCm39) |
V107I |
possibly damaging |
Het |
Fam163b |
A |
G |
2: 27,003,597 (GRCm39) |
L19P |
probably damaging |
Het |
Foxj2 |
T |
C |
6: 122,816,594 (GRCm39) |
L492P |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 107,049,996 (GRCm39) |
V391E |
possibly damaging |
Het |
Ift74 |
T |
C |
4: 94,581,259 (GRCm39) |
Y586H |
probably damaging |
Het |
Klhl12 |
A |
G |
1: 134,411,491 (GRCm39) |
N280S |
probably benign |
Het |
Lctl |
T |
A |
9: 64,040,411 (GRCm39) |
Y292* |
probably null |
Het |
Ltb |
C |
A |
17: 35,413,642 (GRCm39) |
Q49K |
possibly damaging |
Het |
Mapk1 |
T |
A |
16: 16,853,322 (GRCm39) |
D289E |
probably benign |
Het |
Mideas |
A |
G |
12: 84,207,322 (GRCm39) |
|
probably benign |
Het |
Mroh2b |
C |
T |
15: 4,980,609 (GRCm39) |
|
probably benign |
Het |
Myot |
T |
C |
18: 44,470,181 (GRCm39) |
S53P |
possibly damaging |
Het |
Opn5 |
G |
A |
17: 42,922,119 (GRCm39) |
L28F |
probably damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,719 (GRCm39) |
Y142N |
probably benign |
Het |
Or8k39 |
A |
G |
2: 86,563,905 (GRCm39) |
I17T |
possibly damaging |
Het |
Pals2 |
T |
C |
6: 50,140,436 (GRCm39) |
V152A |
possibly damaging |
Het |
Pld1 |
T |
A |
3: 28,099,247 (GRCm39) |
|
probably null |
Het |
Rc3h2 |
A |
G |
2: 37,288,250 (GRCm39) |
|
probably benign |
Het |
Robo2 |
T |
A |
16: 73,730,585 (GRCm39) |
H1009L |
possibly damaging |
Het |
Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
Sh3bp1 |
A |
T |
15: 78,789,314 (GRCm39) |
D288V |
possibly damaging |
Het |
Smpd4 |
T |
C |
16: 17,460,621 (GRCm39) |
I809T |
probably benign |
Het |
Spata6 |
C |
T |
4: 111,663,125 (GRCm39) |
|
probably benign |
Het |
Trnau1ap |
C |
A |
4: 132,055,817 (GRCm39) |
V30L |
possibly damaging |
Het |
Trpm4 |
T |
C |
7: 44,967,773 (GRCm39) |
H386R |
probably benign |
Het |
Ttc3 |
T |
G |
16: 94,227,620 (GRCm39) |
|
probably null |
Het |
Ufd1 |
T |
C |
16: 18,643,781 (GRCm39) |
V180A |
possibly damaging |
Het |
Vmn2r102 |
A |
G |
17: 19,899,154 (GRCm39) |
I499V |
probably damaging |
Het |
Zfp112 |
C |
A |
7: 23,825,021 (GRCm39) |
Q330K |
probably benign |
Het |
Zfp668 |
G |
A |
7: 127,467,079 (GRCm39) |
R166W |
probably damaging |
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 |
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 |
R4158:Fbxl20
|
UTSW |
11 |
97,986,220 (GRCm39) |
unclassified |
probably benign |
|
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 |
|
Posted On |
2013-04-17 |