Incidental Mutation 'R4158:Fbxl20'
ID 315638
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 041001-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # R4158 (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 97986220 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

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 unknown
Transcript: ENSMUST00000147971
AA Change: T133A
SMART Domains Protein: ENSMUSP00000123507
Gene: ENSMUSG00000020883
AA Change: T133A

DomainStartEndE-ValueType
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

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (38/39)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,103,854 (GRCm39) H597R probably damaging Het
Adgrf4 G T 17: 42,978,568 (GRCm39) H258Q probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Arg1 T C 10: 24,798,575 (GRCm39) E25G probably damaging Het
Arhgef19 T C 4: 140,973,660 (GRCm39) I49T possibly damaging Het
Bsn A G 9: 107,990,145 (GRCm39) V1869A possibly damaging Het
Cep350 G A 1: 155,808,621 (GRCm39) R652W probably damaging Het
Cyp19a1 G A 9: 54,093,980 (GRCm39) T94I probably damaging Het
Dnajc13 G A 9: 104,067,641 (GRCm39) L1173F probably damaging Het
Dse A G 10: 34,029,330 (GRCm39) F587L probably damaging Het
Efcab14 A C 4: 115,597,594 (GRCm39) D63A probably damaging Het
Eomes A G 9: 118,308,031 (GRCm39) T35A probably benign Het
Flcn T C 11: 59,691,947 (GRCm39) N234S probably benign Het
Gm20939 A T 17: 95,184,162 (GRCm39) Y270F possibly damaging Het
Ikzf4 A T 10: 128,479,605 (GRCm39) probably benign Het
Il22b T C 10: 118,129,037 (GRCm39) T151A probably damaging Het
Kcne4 A G 1: 78,795,819 (GRCm39) N156D probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc45 A T 11: 120,609,272 (GRCm39) D377V possibly damaging Het
Magi3 T C 3: 103,958,277 (GRCm39) K603E probably damaging Het
Mocos T C 18: 24,807,303 (GRCm39) I345T probably damaging Het
Nox4 A T 7: 87,046,032 (GRCm39) H557L possibly damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pla2r1 A T 2: 60,252,966 (GRCm39) I1375K probably damaging Het
Ppp6r3 T A 19: 3,562,037 (GRCm39) H208L probably damaging Het
Ptprz1 A T 6: 23,001,683 (GRCm39) K1258* probably null Het
Ptprz1 T C 6: 23,022,204 (GRCm39) I844T possibly damaging Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Sec31b T C 19: 44,513,625 (GRCm39) N470S probably benign Het
Slc26a7 T C 4: 14,544,197 (GRCm39) T369A probably benign Het
Tex14 T G 11: 87,407,595 (GRCm39) S900R probably benign Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Vat1l T A 8: 115,098,469 (GRCm39) M413K probably benign Het
Zfp981 C A 4: 146,622,080 (GRCm39) P335Q probably benign Het
Zfp981 T A 4: 146,622,339 (GRCm39) H421Q probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AGTTAGGCTCCTGGTTCCTG -3'
(R):5'- GTACTCCAGCAGTCCTCTTG -3'

Sequencing Primer
(F):5'- GTGACTACACAAGTTTGTGC -3'
(R):5'- CAAGTGAAATCTGCTGCGACCTG -3'
Posted On 2015-05-14