Incidental Mutation 'R2227:Fbxl20'
| ID |
239803 |
| 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 |
040228-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R2227 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
97973382-98041229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97981675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 338
(I338V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103143]
[ENSMUST00000147971]
|
| AlphaFold |
Q9CZV8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103143
AA Change: I338V
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099432
Gene: ENSMUSG00000020883
AA Change: I338V
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
T |
A |
14: 60,325,668 (GRCm39) |
|
probably benign |
Het |
| Abtb1 |
A |
C |
6: 88,813,349 (GRCm39) |
L439R |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,345,829 (GRCm39) |
T293A |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,581,961 (GRCm39) |
V306D |
possibly damaging |
Het |
| Alpk2 |
T |
A |
18: 65,511,147 (GRCm39) |
T17S |
probably damaging |
Het |
| Ar |
T |
A |
X: 97,194,937 (GRCm39) |
M517K |
probably benign |
Het |
| Atg9b |
A |
G |
5: 24,591,393 (GRCm39) |
V735A |
possibly damaging |
Het |
| BB014433 |
C |
A |
8: 15,091,717 (GRCm39) |
A379S |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,989,305 (GRCm39) |
S123P |
probably damaging |
Het |
| Ccl2 |
G |
T |
11: 81,927,427 (GRCm39) |
|
probably null |
Het |
| Cct2 |
T |
C |
10: 116,888,922 (GRCm39) |
R526G |
probably null |
Het |
| Cep55 |
T |
C |
19: 38,051,082 (GRCm39) |
M164T |
probably benign |
Het |
| Clec2d |
G |
A |
6: 129,161,214 (GRCm39) |
A104T |
probably benign |
Het |
| Cyp3a11 |
A |
G |
5: 145,805,357 (GRCm39) |
L220P |
possibly damaging |
Het |
| Dgkk |
T |
A |
X: 6,741,487 (GRCm39) |
D102E |
probably damaging |
Het |
| Emcn |
T |
C |
3: 137,109,778 (GRCm39) |
I140T |
possibly damaging |
Het |
| Exoc2 |
T |
A |
13: 31,048,867 (GRCm39) |
I729L |
probably benign |
Het |
| Gucy2c |
G |
A |
6: 136,679,758 (GRCm39) |
T943I |
probably damaging |
Het |
| Hdac9 |
C |
T |
12: 34,457,801 (GRCm39) |
V251I |
probably benign |
Het |
| Hoxa10 |
T |
C |
6: 52,209,616 (GRCm39) |
E52G |
probably damaging |
Het |
| Il17rb |
A |
T |
14: 29,728,038 (GRCm39) |
S56R |
probably benign |
Het |
| Knl1 |
A |
G |
2: 118,902,481 (GRCm39) |
D1394G |
probably damaging |
Het |
| Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
| Krt6b |
A |
G |
15: 101,587,557 (GRCm39) |
V179A |
probably damaging |
Het |
| Lpar5 |
A |
T |
6: 125,058,098 (GRCm39) |
|
probably null |
Het |
| Marchf7 |
A |
G |
2: 60,060,190 (GRCm39) |
R106G |
probably benign |
Het |
| Mtus1 |
C |
T |
8: 41,535,812 (GRCm39) |
V635M |
probably damaging |
Het |
| Myl1 |
T |
C |
1: 66,983,974 (GRCm39) |
K31E |
possibly damaging |
Het |
| Myt1l |
T |
A |
12: 29,876,969 (GRCm39) |
L207I |
unknown |
Het |
| Naalad2 |
A |
T |
9: 18,287,829 (GRCm39) |
V267E |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,376,188 (GRCm39) |
I950T |
possibly damaging |
Het |
| Ppp1r9a |
G |
T |
6: 5,154,074 (GRCm39) |
R1081L |
probably benign |
Het |
| Rc3h1 |
T |
C |
1: 160,791,112 (GRCm39) |
I932T |
probably benign |
Het |
| Rubcnl |
G |
A |
14: 75,279,832 (GRCm39) |
R405Q |
probably benign |
Het |
| Saxo5 |
A |
G |
8: 3,529,249 (GRCm39) |
T245A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,888,069 (GRCm39) |
E53G |
probably damaging |
Het |
| Slco1a8 |
T |
G |
6: 141,938,087 (GRCm39) |
E277D |
possibly damaging |
Het |
| Spin2g |
A |
T |
X: 33,656,599 (GRCm39) |
I171N |
possibly damaging |
Het |
| Srsf6 |
G |
A |
2: 162,773,619 (GRCm39) |
S10N |
probably damaging |
Het |
| Tesl2 |
T |
A |
X: 23,825,173 (GRCm39) |
M1L |
probably null |
Het |
| Thoc2l |
T |
A |
5: 104,667,286 (GRCm39) |
Y603N |
probably damaging |
Het |
| Tnn |
A |
T |
1: 159,975,035 (GRCm39) |
C131S |
probably damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,771,529 (GRCm39) |
|
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,847 (GRCm39) |
I10V |
probably benign |
Het |
| Xpot |
T |
C |
10: 121,458,765 (GRCm39) |
R20G |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,222 (GRCm39) |
L389I |
possibly damaging |
Het |
| Zfp735 |
T |
G |
11: 73,602,223 (GRCm39) |
L389* |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCAGTGCTCTTTACCCTGAG -3'
(R):5'- GGCAGTGAGTCAGTCAGTTC -3'
Sequencing Primer
(F):5'- GAGTCTCTTGATGCCAGCC -3'
(R):5'- GAGTCAGTCAGTTCTGATTTATAGTC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation