Incidental Mutation 'IGL02394:Fbxl20'
| ID |
293942 |
| 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 # |
IGL02394
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97973382-98041229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98004082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 69
(R69W)
|
| 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: R67W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099432
Gene: ENSMUSG00000020883
AA Change: R67W
| 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: R53W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120709
Gene: ENSMUSG00000020883
AA Change: R53W
| 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: R69W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119003
Gene: ENSMUSG00000020883
AA Change: R69W
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt3 |
G |
A |
1: 176,886,985 (GRCm39) |
T288M |
probably damaging |
Het |
| Baat |
A |
T |
4: 49,489,812 (GRCm39) |
|
probably benign |
Het |
| Bclaf3 |
A |
G |
X: 158,338,485 (GRCm39) |
Y444C |
probably damaging |
Het |
| Bcs1l |
A |
G |
1: 74,629,459 (GRCm39) |
T166A |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,779,318 (GRCm39) |
T776I |
probably benign |
Het |
| Clasrp |
A |
G |
7: 19,337,179 (GRCm39) |
L12P |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,911,609 (GRCm39) |
I164V |
possibly damaging |
Het |
| Eps15 |
T |
A |
4: 109,170,162 (GRCm39) |
L155M |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,763,365 (GRCm39) |
M457V |
probably damaging |
Het |
| Gemin2 |
T |
A |
12: 59,060,842 (GRCm39) |
|
probably null |
Het |
| Gm20521 |
T |
A |
14: 55,135,499 (GRCm39) |
Y175N |
probably damaging |
Het |
| Gm3298 |
T |
A |
14: 5,018,778 (GRCm38) |
C178S |
probably benign |
Het |
| Gpr37l1 |
T |
C |
1: 135,094,746 (GRCm39) |
N166S |
probably damaging |
Het |
| Gpr45 |
A |
G |
1: 43,069,272 (GRCm39) |
|
probably benign |
Het |
| Gpr75 |
T |
C |
11: 30,842,190 (GRCm39) |
I365T |
possibly damaging |
Het |
| Gsdmc2 |
T |
C |
15: 63,707,729 (GRCm39) |
R22G |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,443,256 (GRCm39) |
|
probably benign |
Het |
| Itgam |
A |
T |
7: 127,684,114 (GRCm39) |
T340S |
probably benign |
Het |
| Klk1b24 |
A |
G |
7: 43,841,294 (GRCm39) |
D209G |
possibly damaging |
Het |
| Med13l |
A |
C |
5: 118,886,898 (GRCm39) |
T1600P |
probably benign |
Het |
| Muc16 |
G |
T |
9: 18,409,996 (GRCm39) |
H137Q |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,090,805 (GRCm39) |
E870G |
probably damaging |
Het |
| Or12k7 |
A |
G |
2: 36,958,497 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or5b120 |
A |
G |
19: 13,480,228 (GRCm39) |
N174D |
probably damaging |
Het |
| Or6c215 |
A |
T |
10: 129,638,182 (GRCm39) |
F71I |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,269,710 (GRCm39) |
K3278R |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,328,664 (GRCm39) |
N380D |
probably benign |
Het |
| Rpgr |
A |
C |
X: 10,032,456 (GRCm39) |
S582R |
probably benign |
Het |
| Rph3a |
T |
C |
5: 121,084,411 (GRCm39) |
|
probably null |
Het |
| Setd5 |
A |
G |
6: 113,087,859 (GRCm39) |
H140R |
probably benign |
Het |
| Stoml3 |
C |
A |
3: 53,405,540 (GRCm39) |
|
probably benign |
Het |
| Teddm1a |
A |
C |
1: 153,767,545 (GRCm39) |
D3A |
probably benign |
Het |
| Tmem207 |
A |
G |
16: 26,335,586 (GRCm39) |
|
probably benign |
Het |
| Triml1 |
T |
A |
8: 43,591,629 (GRCm39) |
Q243L |
possibly damaging |
Het |
| Usp5 |
G |
A |
6: 124,799,672 (GRCm39) |
T274M |
probably damaging |
Het |
| Vav2 |
A |
G |
2: 27,187,671 (GRCm39) |
|
probably benign |
Het |
| Wdr5b |
A |
G |
16: 35,862,633 (GRCm39) |
N251D |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,235,375 (GRCm39) |
|
probably null |
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 |
|
|
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