Incidental Mutation 'IGL00966:Fbxl20'
ID 28612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxl20
Ensembl Gene ENSMUSG00000020883
Gene Name F-box and leucine-rich repeat protein 20
Synonyms Scrapper, Scr, 4632423N09Rik, Fbl2, 2610511F20Rik, C86145
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # IGL00966
Quality Score
Status
Chromosome 11
Chromosomal Location 97973382-98041229 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98001800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 99 (S99N)
Ref Sequence ENSEMBL: ENSMUSP00000119003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103143] [ENSMUST00000149327] [ENSMUST00000150378]
AlphaFold Q9CZV8
Predicted Effect possibly damaging
Transcript: ENSMUST00000103143
AA Change: S97N

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099432
Gene: ENSMUSG00000020883
AA Change: S97N

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 possibly damaging
Transcript: ENSMUST00000149327
AA Change: S83N

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120709
Gene: ENSMUSG00000020883
AA Change: S83N

DomainStartEndE-ValueType
FBOX 14 54 2.62e-8 SMART
Blast:LRR 76 101 1e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000150378
AA Change: S99N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119003
Gene: ENSMUSG00000020883
AA Change: S99N

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,003,855 (GRCm39) E649G probably damaging Het
Adgre1 C A 17: 57,726,335 (GRCm39) T402K probably benign Het
Agap3 A G 5: 24,706,000 (GRCm39) probably benign Het
Amy1 T C 3: 113,349,689 (GRCm39) I494V probably benign Het
Arhgef40 G A 14: 52,229,155 (GRCm39) probably null Het
Atp2c2 T C 8: 120,472,329 (GRCm39) V461A probably benign Het
Bub1 A G 2: 127,652,583 (GRCm39) S595P probably damaging Het
Cdcp3 T A 7: 130,844,836 (GRCm39) Y692* probably null Het
Cmya5 C T 13: 93,234,414 (GRCm39) V225I probably benign Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cux1 A T 5: 136,340,345 (GRCm39) probably benign Het
Dsg3 T A 18: 20,656,664 (GRCm39) I178N probably benign Het
Dus2 T A 8: 106,752,533 (GRCm39) probably null Het
Enpp1 G A 10: 24,529,929 (GRCm39) H570Y probably damaging Het
Ephb3 A C 16: 21,036,044 (GRCm39) T57P probably benign Het
Fat3 C A 9: 15,910,390 (GRCm39) V1871F possibly damaging Het
Fbll1 T C 11: 35,688,874 (GRCm39) T130A probably benign Het
Folr2 T C 7: 101,489,593 (GRCm39) E182G probably damaging Het
Fras1 A G 5: 96,703,080 (GRCm39) D281G probably benign Het
Gm17175 G T 14: 51,810,526 (GRCm39) Q34K possibly damaging Het
Gm5592 T A 7: 40,938,519 (GRCm39) D600E probably damaging Het
Gtf2e1 T C 16: 37,336,092 (GRCm39) E294G probably benign Het
Gtf3c2 A G 5: 31,327,517 (GRCm39) probably benign Het
Heg1 T C 16: 33,530,977 (GRCm39) L151P probably damaging Het
Hmcn2 T G 2: 31,319,006 (GRCm39) V3902G probably damaging Het
Ift140 A G 17: 25,237,776 (GRCm39) Y4C probably damaging Het
Ighv1-19 A C 12: 114,672,569 (GRCm39) V17G possibly damaging Het
Iqca1 T A 1: 89,973,379 (GRCm39) I770F probably benign Het
Jak3 T A 8: 72,131,656 (GRCm39) C115S probably benign Het
Kif18b A T 11: 102,805,501 (GRCm39) M252K probably damaging Het
Klhdc7a A T 4: 139,694,236 (GRCm39) V237D probably benign Het
Klhl11 C T 11: 100,354,031 (GRCm39) V597I possibly damaging Het
Krt72 T A 15: 101,689,396 (GRCm39) Y312F probably damaging Het
Lonp2 T A 8: 87,360,600 (GRCm39) I191N probably damaging Het
Npc2 A T 12: 84,819,619 (GRCm39) I8N possibly damaging Het
Nr4a1 T C 15: 101,170,669 (GRCm39) L413P probably damaging Het
Nup133 T C 8: 124,638,645 (GRCm39) N895S probably damaging Het
Or7e175 T C 9: 20,048,531 (GRCm39) F40L probably benign Het
Ppef1 A G X: 159,468,290 (GRCm39) I94T probably benign Het
Prrt4 G A 6: 29,176,455 (GRCm39) T290I probably benign Het
Ptpru A T 4: 131,499,927 (GRCm39) V1239E probably damaging Het
Rab8b T G 9: 66,760,274 (GRCm39) M117L probably benign Het
S1pr5 T A 9: 21,155,512 (GRCm39) I305F possibly damaging Het
Sdr39u1 A G 14: 56,135,463 (GRCm39) V160A probably damaging Het
Slc6a21 C T 7: 44,937,668 (GRCm39) T653M probably benign Het
Stk39 T A 2: 68,042,302 (GRCm39) E544D probably benign Het
Tgfbr3 T C 5: 107,290,367 (GRCm39) T313A probably benign Het
Tle6 A T 10: 81,430,292 (GRCm39) L287M probably damaging Het
Tmc2 A G 2: 130,105,932 (GRCm39) H821R probably benign Het
Tmem230 G T 2: 132,087,897 (GRCm39) D26E probably benign Het
Tnfaip3 A G 10: 18,880,885 (GRCm39) F394S probably damaging Het
Ttn T A 2: 76,641,721 (GRCm39) L13458F probably damaging Het
Vwa5a A T 9: 38,634,675 (GRCm39) N161I probably benign Het
Wdr87-ps C A 7: 29,236,888 (GRCm39) noncoding transcript Het
Other mutations in Fbxl20
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2013-04-17