Incidental Mutation 'IGL00590:Fbxl20'
ID10718
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxl20
Ensembl Gene ENSMUSG00000020883
Gene NameF-box and leucine-rich repeat protein 20
Synonyms2610511F20Rik, C86145, 4632423N09Rik, Fbl2, Scrapper, Scr
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.320) question?
Stock #IGL00590
Quality Score
Status
Chromosome11
Chromosomal Location98082556-98150403 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 98093129 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 306 (L306P)
Ref Sequence ENSEMBL: ENSMUSP00000099432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103143] [ENSMUST00000147971]
Predicted Effect probably damaging
Transcript: ENSMUST00000103143
AA Change: L306P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099432
Gene: ENSMUSG00000020883
AA Change: L306P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T G 7: 120,423,815 F58C probably damaging Het
Adgrf5 G T 17: 43,453,147 G1320V probably damaging Het
Akap13 A G 7: 75,610,669 K211E probably benign Het
Akap8l T C 17: 32,333,097 D402G possibly damaging Het
Akna T C 4: 63,371,878 I1198V probably benign Het
Apaf1 T A 10: 91,023,788 I832F probably damaging Het
Cbl A C 9: 44,201,198 L67V probably damaging Het
Chl1 T C 6: 103,693,061 Y471H probably benign Het
Cystm1 T A 18: 36,366,675 Y48N unknown Het
Dennd5b T C 6: 149,068,308 T216A probably benign Het
Dpep2 A T 8: 105,988,821 M356K probably damaging Het
Dtymk A G 1: 93,794,724 probably null Het
Fam91a1 A G 15: 58,415,716 D4G possibly damaging Het
Fchsd1 C T 18: 37,965,893 probably benign Het
Fndc1 G A 17: 7,765,101 T1331I unknown Het
Gpatch8 T C 11: 102,480,549 D721G unknown Het
Gsg1 A T 6: 135,244,350 I17N possibly damaging Het
Heyl A G 4: 123,246,630 *327W probably null Het
Kif13b G T 14: 64,779,462 R1359L probably damaging Het
Map3k14 C T 11: 103,237,554 G414S probably damaging Het
Meis2 C T 2: 115,868,793 A330T probably damaging Het
Mrpl9 T C 3: 94,443,696 L61P probably damaging Het
Mrps6 A G 16: 92,099,660 N38D probably benign Het
Muc4 C T 16: 32,754,347 T1407I probably benign Het
Nup107 A G 10: 117,763,803 Y604H probably damaging Het
Pgm2l1 T C 7: 100,255,619 probably null Het
Pisd T C 5: 32,738,412 I441V probably benign Het
Rb1cc1 T C 1: 6,238,296 F52S probably damaging Het
Rnft1 T A 11: 86,495,914 W383R probably damaging Het
Tas2r104 A T 6: 131,685,567 W60R probably damaging Het
Tlr11 A G 14: 50,360,916 T120A probably benign Het
Tmem150b T G 7: 4,723,897 I71L probably benign Het
Zfp296 A G 7: 19,577,835 D89G possibly damaging Het
Other mutations in Fbxl20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Fbxl20 APN 11 98090674 missense possibly damaging 0.70
IGL00161:Fbxl20 APN 11 98090674 missense possibly damaging 0.70
IGL00944:Fbxl20 APN 11 98113242 missense probably damaging 1.00
IGL00966:Fbxl20 APN 11 98110974 missense probably damaging 1.00
IGL01344:Fbxl20 APN 11 98100100 nonsense probably null
IGL02394:Fbxl20 APN 11 98113256 missense probably damaging 1.00
R0270:Fbxl20 UTSW 11 98098503 splice site probably benign
R1564:Fbxl20 UTSW 11 98098486 missense probably damaging 1.00
R2227:Fbxl20 UTSW 11 98090849 missense probably benign 0.12
R3902:Fbxl20 UTSW 11 98097035 missense probably benign 0.03
R4158:Fbxl20 UTSW 11 98095394 unclassified probably benign
R4516:Fbxl20 UTSW 11 98095235 unclassified probably benign
R4916:Fbxl20 UTSW 11 98128360 missense probably damaging 1.00
R5905:Fbxl20 UTSW 11 98115445 missense probably damaging 1.00
R6791:Fbxl20 UTSW 11 98109510 missense probably benign 0.05
R6916:Fbxl20 UTSW 11 98113253 missense possibly damaging 0.78
R7381:Fbxl20 UTSW 11 98090788 missense probably benign 0.01
R7536:Fbxl20 UTSW 11 98095383 nonsense probably null
X0067:Fbxl20 UTSW 11 98096978 missense probably benign 0.45
Posted On2012-12-06