Incidental Mutation 'R8075:Fbxl18'
ID 628960
Institutional Source Beutler Lab
Gene Symbol Fbxl18
Ensembl Gene ENSMUSG00000066640
Gene Name F-box and leucine-rich repeat protein 18
Synonyms B130019G13Rik, C330021B20Rik
MMRRC Submission 067509-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R8075 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 142852701-142881176 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142871861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 458 (L458P)
Ref Sequence ENSEMBL: ENSMUSP00000106394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035985] [ENSMUST00000110766]
AlphaFold E9PYR1
Predicted Effect probably damaging
Transcript: ENSMUST00000035985
AA Change: L394P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041700
Gene: ENSMUSG00000066640
AA Change: L394P

DomainStartEndE-ValueType
low complexity region 4 12 N/A INTRINSIC
FBOX 20 61 1.69e-2 SMART
SCOP:d1yrga_ 307 610 2e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110766
AA Change: L458P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106394
Gene: ENSMUSG00000066640
AA Change: L458P

DomainStartEndE-ValueType
low complexity region 58 78 N/A INTRINSIC
FBOX 84 125 1.1e-4 SMART
SCOP:d1yrga_ 371 674 2e-6 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A T 5: 121,790,148 (GRCm39) H69Q probably benign Het
Aif1 T A 17: 35,390,811 (GRCm39) N87Y unknown Het
Caprin2 A T 6: 148,770,590 (GRCm39) V468E probably benign Het
Cep68 A T 11: 20,189,335 (GRCm39) V559D probably benign Het
Chrna4 A C 2: 180,680,859 (GRCm39) I3S unknown Het
Cog3 T C 14: 75,968,142 (GRCm39) Y407C probably damaging Het
Col15a1 A G 4: 47,208,359 (GRCm39) H3R probably benign Het
Ctxn1 A G 8: 4,308,553 (GRCm39) V26A probably benign Het
Cyp27b1 A C 10: 126,887,382 (GRCm39) T405P probably damaging Het
Cyp2c65 A G 19: 39,060,682 (GRCm39) I181V probably benign Het
Dusp6 T A 10: 99,100,810 (GRCm39) S269T possibly damaging Het
Efcab6 A T 15: 83,851,824 (GRCm39) D351E probably damaging Het
Fam181a A T 12: 103,282,296 (GRCm39) H67L possibly damaging Het
Flnb T C 14: 7,913,048 (GRCm38) I1439T probably benign Het
Foxj2 C T 6: 122,815,055 (GRCm39) Q364* probably null Het
Gm3138 A T 14: 4,250,532 (GRCm38) N55Y probably damaging Het
Hmcn2 A G 2: 31,279,403 (GRCm39) T1802A possibly damaging Het
Hoxc6 T C 15: 102,919,325 (GRCm39) I187T probably damaging Het
Ighg3 T A 12: 113,321,097 (GRCm39) I387F Het
Insr A T 8: 3,205,862 (GRCm39) M1309K probably benign Het
Itsn1 A T 16: 91,686,097 (GRCm39) N1290I unknown Het
Jag2 C A 12: 112,878,894 (GRCm39) R509L probably benign Het
Kctd11 T A 11: 69,771,095 (GRCm39) probably benign Het
Med13 C A 11: 86,163,296 (GRCm39) V2126F probably damaging Het
Mknk2 G A 10: 80,507,982 (GRCm39) probably benign Het
Oga A T 19: 45,749,621 (GRCm39) N699K probably damaging Het
Or52l1 T G 7: 104,830,343 (GRCm39) H74P probably damaging Het
Or5m13b A G 2: 85,754,470 (GRCm39) N286S probably benign Het
Pdzrn4 T C 15: 92,575,605 (GRCm39) V337A probably damaging Het
Pik3c3 A G 18: 30,438,082 (GRCm39) N491D probably damaging Het
Pla2g12b T A 10: 59,257,274 (GRCm39) S96T unknown Het
Rab37 G T 11: 114,982,759 (GRCm39) probably null Het
Rp9 G A 9: 22,368,788 (GRCm39) T57M probably damaging Het
Rrp12 A G 19: 41,851,713 (GRCm39) V1274A probably damaging Het
Serpinb11 G A 1: 107,298,519 (GRCm39) V57M probably damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc39a14 A T 14: 70,546,247 (GRCm39) I392N possibly damaging Het
Sowahb G A 5: 93,192,276 (GRCm39) Q148* probably null Het
Spon1 T C 7: 113,616,026 (GRCm39) probably null Het
Susd4 C A 1: 182,592,748 (GRCm39) T48K possibly damaging Het
Taf4b T C 18: 14,916,749 (GRCm39) V33A possibly damaging Het
Tas2r139 T A 6: 42,118,154 (GRCm39) N95K probably benign Het
Tle3 T C 9: 61,281,841 (GRCm39) M57T probably benign Het
Usp13 T A 3: 32,985,852 (GRCm39) M815K probably damaging Het
Vps8 A G 16: 21,340,644 (GRCm39) D796G probably damaging Het
Wnk1 C T 6: 119,909,675 (GRCm39) G41S probably damaging Het
Zfp867 A G 11: 59,355,066 (GRCm39) S88P probably benign Het
Other mutations in Fbxl18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Fbxl18 APN 5 142,871,580 (GRCm39) missense probably damaging 0.99
R1384:Fbxl18 UTSW 5 142,871,978 (GRCm39) missense probably damaging 0.96
R1725:Fbxl18 UTSW 5 142,872,458 (GRCm39) missense probably damaging 1.00
R1873:Fbxl18 UTSW 5 142,871,978 (GRCm39) missense probably damaging 0.96
R1874:Fbxl18 UTSW 5 142,871,978 (GRCm39) missense probably damaging 0.96
R1875:Fbxl18 UTSW 5 142,871,978 (GRCm39) missense probably damaging 0.96
R2011:Fbxl18 UTSW 5 142,858,214 (GRCm39) missense probably benign 0.00
R2186:Fbxl18 UTSW 5 142,864,516 (GRCm39) missense probably damaging 1.00
R4977:Fbxl18 UTSW 5 142,871,840 (GRCm39) missense probably damaging 1.00
R5011:Fbxl18 UTSW 5 142,872,435 (GRCm39) missense probably damaging 1.00
R5025:Fbxl18 UTSW 5 142,872,068 (GRCm39) missense probably damaging 0.98
R5567:Fbxl18 UTSW 5 142,881,022 (GRCm39) unclassified probably benign
R5570:Fbxl18 UTSW 5 142,881,022 (GRCm39) unclassified probably benign
R5654:Fbxl18 UTSW 5 142,871,558 (GRCm39) missense probably damaging 1.00
R5677:Fbxl18 UTSW 5 142,864,475 (GRCm39) nonsense probably null
R6010:Fbxl18 UTSW 5 142,858,153 (GRCm39) missense probably damaging 1.00
R6302:Fbxl18 UTSW 5 142,874,578 (GRCm39) missense probably damaging 1.00
R7699:Fbxl18 UTSW 5 142,871,504 (GRCm39) missense probably damaging 0.96
R8952:Fbxl18 UTSW 5 142,871,502 (GRCm39) missense probably damaging 1.00
R9267:Fbxl18 UTSW 5 142,880,870 (GRCm39) missense possibly damaging 0.60
X0023:Fbxl18 UTSW 5 142,872,126 (GRCm39) missense probably benign 0.00
X0060:Fbxl18 UTSW 5 142,871,326 (GRCm39) missense possibly damaging 0.50
Z1176:Fbxl18 UTSW 5 142,872,179 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- CTTCTTCAGCAGAGACCAGAAC -3'
(R):5'- GATTCAGCGGCTCATCAATGG -3'

Sequencing Primer
(F):5'- TTCAGCAGAGACCAGAACACAGAG -3'
(R):5'- CTCATCAATGGCGGGAAGGAC -3'
Posted On 2020-06-30