Incidental Mutation 'IGL00161:Fbxl20'
ID306577
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: 0.251) question?
Stock #IGL00161
Quality Score
Status
Chromosome11
Chromosomal Location98082556-98150403 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 98090674 bp
ZygosityHeterozygous
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]
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

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A T 4: 42,973,982 H1105L probably benign Het
4930467E23Rik T C 8: 19,749,483 probably benign Het
Akap13 T A 7: 75,725,971 V1932E probably damaging Het
Alg3 A G 16: 20,607,858 V211A probably damaging Het
Bsn T C 9: 108,115,110 T1148A probably benign Het
Dmbt1 G T 7: 131,109,628 D1538Y probably damaging Het
Gsto2 A G 19: 47,874,967 D94G probably damaging Het
Igf2r T C 17: 12,713,990 I882V probably benign Het
Ltbp1 C T 17: 75,310,152 probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Nlrp1b A C 11: 71,181,181 probably benign Het
Notch3 A T 17: 32,158,114 C272* probably null Het
Olfr1230 A G 2: 89,296,455 C272R probably benign Het
Olfr943 A G 9: 39,185,092 K305E possibly damaging Het
Pard3 A G 8: 127,359,818 probably benign Het
Pcsk4 A G 10: 80,322,823 Y532H probably damaging Het
Pkd1l1 A G 11: 8,929,353 probably null Het
Prex1 A G 2: 166,638,401 Y140H probably damaging Het
Ptpdc1 C T 13: 48,587,058 R238Q possibly damaging Het
Rdx A G 9: 52,086,346 D540G probably damaging Het
Rnase10 T G 14: 51,009,781 D168E possibly damaging Het
Slc30a5 A C 13: 100,806,666 D561E probably damaging Het
Spag1 C T 15: 36,195,416 R252* probably null Het
Stox1 T C 10: 62,667,913 E121G probably damaging Het
Synm T C 7: 67,734,915 M558V probably benign Het
Tenm2 C T 11: 36,206,899 probably benign Het
Vmn1r64 T C 7: 5,883,828 T239A probably damaging Het
Other mutations in Fbxl20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Fbxl20 APN 11 98090674 missense possibly damaging 0.70
IGL00590:Fbxl20 APN 11 98093129 missense probably damaging 1.00
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 On2015-04-16