Incidental Mutation 'R4516:Fbxl20'
| ID |
332925 |
| 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 |
041760-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R4516 (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 97986061 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 |
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 |
|
| 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: 99.4%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.9%
|
| Validation Efficiency |
86% (51/59) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bean1 |
T |
C |
8: 104,941,786 (GRCm39) |
S211P |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,949,460 (GRCm39) |
S369P |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,229,177 (GRCm39) |
S552P |
possibly damaging |
Het |
| Cdh11 |
T |
C |
8: 103,400,594 (GRCm39) |
T125A |
possibly damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,194,952 (GRCm39) |
|
probably null |
Het |
| Cenpc1 |
A |
G |
5: 86,195,446 (GRCm39) |
S108P |
possibly damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,536,609 (GRCm38) |
D199E |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,294,227 (GRCm39) |
Y224* |
probably null |
Het |
| Cfap46 |
G |
A |
7: 139,239,998 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
G |
A |
2: 35,017,993 (GRCm39) |
V468I |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,576,148 (GRCm39) |
V2071I |
possibly damaging |
Het |
| Coq7 |
A |
T |
7: 118,109,130 (GRCm39) |
L306Q |
unknown |
Het |
| D7Ertd443e |
C |
G |
7: 133,895,057 (GRCm39) |
Q591H |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,404,059 (GRCm39) |
V2828M |
probably damaging |
Het |
| Dzank1 |
T |
A |
2: 144,352,042 (GRCm39) |
|
probably benign |
Het |
| Elmo1 |
C |
T |
13: 20,467,084 (GRCm39) |
T235I |
probably benign |
Het |
| Elp3 |
A |
T |
14: 65,785,326 (GRCm39) |
F492I |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,231,671 (GRCm39) |
S90G |
probably benign |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Got1 |
T |
C |
19: 43,493,280 (GRCm39) |
Y243C |
probably damaging |
Het |
| Hipk1 |
G |
T |
3: 103,657,688 (GRCm39) |
H799N |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,855,345 (GRCm39) |
M673K |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,628,415 (GRCm39) |
D1502E |
probably damaging |
Het |
| Limk1 |
A |
G |
5: 134,705,640 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,758,745 (GRCm39) |
Y242C |
probably damaging |
Het |
| Naa12 |
G |
A |
18: 80,254,791 (GRCm39) |
M28I |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,157,824 (GRCm39) |
V354A |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,217,130 (GRCm39) |
D1380G |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,329 (GRCm39) |
I148T |
probably damaging |
Het |
| Oas1d |
A |
T |
5: 121,057,233 (GRCm39) |
T280S |
probably damaging |
Het |
| Or1e29 |
C |
T |
11: 73,667,866 (GRCm39) |
G96S |
probably benign |
Het |
| Or4c15b |
T |
A |
2: 89,113,187 (GRCm39) |
M118L |
probably benign |
Het |
| Pax7 |
T |
G |
4: 139,508,104 (GRCm39) |
D307A |
probably benign |
Het |
| Pdxdc1 |
G |
A |
16: 13,656,210 (GRCm39) |
Q621* |
probably null |
Het |
| Rab29 |
A |
T |
1: 131,795,469 (GRCm39) |
Y27F |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 184,999,265 (GRCm39) |
V991I |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,548,165 (GRCm39) |
T278A |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc47a1 |
T |
C |
11: 61,235,339 (GRCm39) |
H498R |
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,517,200 (GRCm39) |
|
probably benign |
Het |
| Tas2r116 |
T |
C |
6: 132,833,113 (GRCm39) |
L238P |
probably damaging |
Het |
| Tigd5 |
A |
T |
15: 75,782,364 (GRCm39) |
R252* |
probably null |
Het |
| Tlr6 |
A |
G |
5: 65,112,247 (GRCm39) |
F220S |
possibly damaging |
Het |
| Tmem106b |
C |
T |
6: 13,075,098 (GRCm39) |
T95I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r174 |
A |
G |
7: 23,453,768 (GRCm39) |
I145V |
probably benign |
Het |
| Vps26a |
T |
C |
10: 62,304,124 (GRCm39) |
M116V |
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 |
|
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 |
|
|
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'- TCTGTACTTCCCAAGCCAGC -3'
(R):5'- TGATTGCATCACCCTGAAGTG -3'
Sequencing Primer
(F):5'- CAGGTTCTAGTGGCCCGTG -3'
(R):5'- CATCACCCTGAAGTGTGGTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation