Incidental Mutation 'IGL00944:Fbxl20'
ID28561
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 #IGL00944
Quality Score
Status
Chromosome11
Chromosomal Location98082556-98150403 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 98113242 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 73 (F73L)
Ref Sequence ENSEMBL: ENSMUSP00000119003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103143] [ENSMUST00000149327] [ENSMUST00000150378]
Predicted Effect probably damaging
Transcript: ENSMUST00000103143
AA Change: F71L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099432
Gene: ENSMUSG00000020883
AA Change: F71L

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 noncoding transcript
Transcript: ENSMUST00000146399
Predicted Effect probably damaging
Transcript: ENSMUST00000149327
AA Change: F57L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120709
Gene: ENSMUSG00000020883
AA Change: F57L

DomainStartEndE-ValueType
FBOX 14 54 2.62e-8 SMART
Blast:LRR 76 101 1e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000150378
AA Change: F73L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119003
Gene: ENSMUSG00000020883
AA Change: F73L

DomainStartEndE-ValueType
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10b A G 11: 43,202,161 N441S probably damaging Het
Bod1l A G 5: 41,816,823 C2383R probably benign Het
Dapk3 G T 10: 81,184,076 probably null Het
Dock6 T C 9: 21,846,634 D58G possibly damaging Het
Elmsan1 A G 12: 84,160,548 probably benign Het
Etl4 G A 2: 20,530,054 V107I possibly damaging Het
Fam163b A G 2: 27,113,585 L19P probably damaging Het
Foxj2 T C 6: 122,839,635 L492P probably damaging Het
Hfm1 A T 5: 106,902,130 V391E possibly damaging Het
Ift74 T C 4: 94,693,022 Y586H probably damaging Het
Klhl12 A G 1: 134,483,753 N280S probably benign Het
Lctl T A 9: 64,133,129 Y292* probably null Het
Ltb C A 17: 35,194,666 Q49K possibly damaging Het
Mapk1 T A 16: 17,035,458 D289E probably benign Het
Mpp6 T C 6: 50,163,456 V152A possibly damaging Het
Mroh2b C T 15: 4,951,127 probably benign Het
Myot T C 18: 44,337,114 S53P possibly damaging Het
Olfr1089 A G 2: 86,733,561 I17T possibly damaging Het
Olfr1447 A T 19: 12,901,355 Y142N probably benign Het
Opn5 G A 17: 42,611,228 L28F probably damaging Het
Pld1 T A 3: 28,045,098 probably null Het
Rc3h2 A G 2: 37,398,238 probably benign Het
Robo2 T A 16: 73,933,697 H1009L possibly damaging Het
Setd7 T A 3: 51,533,038 D194V probably damaging Het
Sh3bp1 A T 15: 78,905,114 D288V possibly damaging Het
Smpd4 T C 16: 17,642,757 I809T probably benign Het
Spata6 C T 4: 111,805,928 probably benign Het
Trnau1ap C A 4: 132,328,506 V30L possibly damaging Het
Trpm4 T C 7: 45,318,349 H386R probably benign Het
Ttc3 T G 16: 94,426,761 probably null Het
Ufd1 T C 16: 18,825,031 V180A possibly damaging Het
Vmn2r102 A G 17: 19,678,892 I499V probably damaging Het
Zfp112 C A 7: 24,125,596 Q330K probably benign Het
Zfp668 G A 7: 127,867,907 R166W probably 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
IGL00590:Fbxl20 APN 11 98093129 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 On2013-04-17