Incidental Mutation 'IGL01148:Fbxl18'
ID 51222
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxl18
Ensembl Gene ENSMUSG00000066640
Gene Name F-box and leucine-rich repeat protein 18
Synonyms B130019G13Rik, C330021B20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL01148
Quality Score
Status
Chromosome 5
Chromosomal Location 142852701-142881176 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142871580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 488 (M488V)
Ref Sequence ENSEMBL: ENSMUSP00000041700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035985] [ENSMUST00000110766]
AlphaFold E9PYR1
Predicted Effect probably damaging
Transcript: ENSMUST00000035985
AA Change: M488V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041700
Gene: ENSMUSG00000066640
AA Change: M488V

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: M552V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106394
Gene: ENSMUSG00000066640
AA Change: M552V

DomainStartEndE-ValueType
low complexity region 58 78 N/A INTRINSIC
FBOX 84 125 1.1e-4 SMART
SCOP:d1yrga_ 371 674 2e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156725
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A T 11: 69,781,729 (GRCm39) C64* probably null Het
Ccng2 G A 5: 93,418,746 (GRCm39) D124N probably damaging Het
Cttnbp2 G A 6: 18,382,817 (GRCm39) P1317L probably damaging Het
Dsg1a T A 18: 20,453,982 (GRCm39) V29E probably damaging Het
Exoc6b T C 6: 84,885,208 (GRCm39) K244E probably benign Het
Fastkd5 A G 2: 130,456,605 (GRCm39) F662L probably benign Het
Gas2l3 C T 10: 89,249,366 (GRCm39) G584D probably benign Het
Gm28042 T C 2: 119,869,519 (GRCm39) F405L possibly damaging Het
Gtf3c2 T C 5: 31,317,168 (GRCm39) K635E probably damaging Het
H2-Q2 A G 17: 35,561,654 (GRCm39) Y48C probably damaging Het
Hddc2 T C 10: 31,192,330 (GRCm39) I78T probably damaging Het
Hspg2 T A 4: 137,273,969 (GRCm39) M2708K probably benign Het
Ift88 T C 14: 57,677,189 (GRCm39) S119P probably benign Het
Mta2 T C 19: 8,925,668 (GRCm39) C388R probably damaging Het
Mymx G T 17: 45,912,594 (GRCm39) probably benign Het
Naga A G 15: 82,214,861 (GRCm39) Y366H possibly damaging Het
Nlrp9a A G 7: 26,257,006 (GRCm39) E208G probably damaging Het
Nr4a2 C T 2: 57,001,983 (GRCm39) V94M probably benign Het
Or4c124 G T 2: 89,156,368 (GRCm39) T52K probably benign Het
Osbpl8 G T 10: 111,112,424 (GRCm39) probably benign Het
Pitpnb T A 5: 111,486,222 (GRCm39) V42D probably damaging Het
Pitrm1 A G 13: 6,623,141 (GRCm39) R801G probably benign Het
Pthlh G A 6: 147,154,073 (GRCm39) T174M probably benign Het
Sco2 T C 15: 89,255,924 (GRCm39) I243M probably benign Het
Sema5a G A 15: 32,681,641 (GRCm39) V907M probably benign Het
Semp2l1 A G 1: 32,584,735 (GRCm39) S392P possibly damaging Het
Spata31e2 T C 1: 26,724,253 (GRCm39) E309G probably benign Het
Stac2 T A 11: 97,934,387 (GRCm39) K106* probably null Het
Tas2r105 T A 6: 131,663,815 (GRCm39) R204S probably damaging Het
Tgm5 A G 2: 120,877,156 (GRCm39) probably null Het
Trpm1 A G 7: 63,893,312 (GRCm39) I939V probably damaging Het
Ttll11 T A 2: 35,674,205 (GRCm39) N574I probably damaging Het
Zfand3 A T 17: 30,354,374 (GRCm39) T64S probably benign Het
Zfyve26 G A 12: 79,307,644 (GRCm39) H312Y probably benign Het
Other mutations in Fbxl18
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8075:Fbxl18 UTSW 5 142,871,861 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-06-21