Incidental Mutation 'IGL00161:Fbxl20'
| ID |
306577 |
| 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: 0.282)
|
| Stock # |
IGL00161
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97973382-98041229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97981500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 396
(G396D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103143]
[ENSMUST00000147971]
|
| AlphaFold |
Q9CZV8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103143
AA Change: G396D
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099432
Gene: ENSMUSG00000020883
AA Change: G396D
| 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 |
probably benign
Transcript: ENSMUST00000147971
|
| SMART Domains |
Protein: ENSMUSP00000123507
Gene: ENSMUSG00000020883
| 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 |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
A |
7: 75,375,719 (GRCm39) |
V1932E |
probably damaging |
Het |
| Alg3 |
A |
G |
16: 20,426,608 (GRCm39) |
V211A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,992,309 (GRCm39) |
T1148A |
probably benign |
Het |
| Dmbt1 |
G |
T |
7: 130,711,357 (GRCm39) |
D1538Y |
probably damaging |
Het |
| Gsto2 |
A |
G |
19: 47,863,406 (GRCm39) |
D94G |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,932,877 (GRCm39) |
I882V |
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,617,147 (GRCm39) |
|
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
A |
C |
11: 71,072,007 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,377,088 (GRCm39) |
C272* |
probably null |
Het |
| Or4c123 |
A |
G |
2: 89,126,799 (GRCm39) |
C272R |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,096,388 (GRCm39) |
K305E |
possibly damaging |
Het |
| Pard3 |
A |
G |
8: 128,086,299 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
A |
G |
10: 80,158,657 (GRCm39) |
Y532H |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,879,353 (GRCm39) |
|
probably null |
Het |
| Potefam3e |
T |
C |
8: 19,799,499 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,480,321 (GRCm39) |
Y140H |
probably damaging |
Het |
| Ptpdc1 |
C |
T |
13: 48,740,534 (GRCm39) |
R238Q |
possibly damaging |
Het |
| Rdx |
A |
G |
9: 51,997,646 (GRCm39) |
D540G |
probably damaging |
Het |
| Rnase10 |
T |
G |
14: 51,247,238 (GRCm39) |
D168E |
possibly damaging |
Het |
| Slc30a5 |
A |
C |
13: 100,943,174 (GRCm39) |
D561E |
probably damaging |
Het |
| Spag1 |
C |
T |
15: 36,195,562 (GRCm39) |
R252* |
probably null |
Het |
| Spata31g1 |
A |
T |
4: 42,973,982 (GRCm39) |
H1105L |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,503,692 (GRCm39) |
E121G |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,384,663 (GRCm39) |
M558V |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,097,726 (GRCm39) |
|
probably benign |
Het |
| Vmn1r64 |
T |
C |
7: 5,886,827 (GRCm39) |
T239A |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation