Incidental Mutation 'R3738:Fbxw18'
ID 270242
Institutional Source Beutler Lab
Gene Symbol Fbxw18
Ensembl Gene ENSMUSG00000074059
Gene Name F-box and WD-40 domain protein 18
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R3738 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 109505802-109531768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109517981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 335 (Y335F)
Ref Sequence ENSEMBL: ENSMUSP00000095962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098359]
AlphaFold Q3TSA9
Predicted Effect possibly damaging
Transcript: ENSMUST00000098359
AA Change: Y335F

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095962
Gene: ENSMUSG00000074059
AA Change: Y335F

DomainStartEndE-ValueType
FBOX 8 48 4.13e-6 SMART
Blast:WD40 140 179 2e-7 BLAST
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Abcb8 A G 5: 24,605,619 (GRCm39) S168G probably benign Het
Ankrd11 A G 8: 123,623,454 (GRCm39) probably benign Het
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Atp8b1 A G 18: 64,666,800 (GRCm39) probably benign Het
Camk2d A G 3: 126,565,488 (GRCm39) D136G probably damaging Het
Capn3 G A 2: 120,315,768 (GRCm39) D227N possibly damaging Het
Ccdc168 A G 1: 44,098,026 (GRCm39) V1024A probably benign Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Dlgap3 A G 4: 127,089,399 (GRCm39) T332A probably damaging Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Gbp10 T A 5: 105,372,324 (GRCm39) E145D possibly damaging Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Insig1 T A 5: 28,276,701 (GRCm39) I89N probably damaging Het
Itpkc T A 7: 26,927,029 (GRCm39) D295V possibly damaging Het
Jak1 T C 4: 101,048,665 (GRCm39) probably benign Het
Kctd9 G A 14: 67,971,737 (GRCm39) D157N possibly damaging Het
Kmt2c A C 5: 25,610,381 (GRCm39) F242V probably benign Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Lin54 T C 5: 100,607,665 (GRCm39) probably benign Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Myh9 G A 15: 77,651,012 (GRCm39) R1612C probably damaging Het
Nr1d2 T A 14: 18,211,804 (GRCm38) N433I possibly damaging Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Or4c112 T C 2: 88,853,954 (GRCm39) Y131C probably damaging Het
Or4l15 T C 14: 50,198,013 (GRCm39) N172S possibly damaging Het
Pld4 T C 12: 112,734,469 (GRCm39) I410T probably benign Het
Pnma8b C T 7: 16,680,521 (GRCm39) H502Y probably benign Het
Pramel12 T C 4: 143,143,212 (GRCm39) probably benign Het
Rbbp8nl G T 2: 179,923,041 (GRCm39) T184K probably benign Het
Saa4 T A 7: 46,379,053 (GRCm39) N96Y possibly damaging Het
Serpinb6d T A 13: 33,851,663 (GRCm39) V140E probably damaging Het
Ska3 A T 14: 58,049,053 (GRCm39) M306K probably benign Het
Slfn4 T C 11: 83,076,137 (GRCm39) M1T probably null Het
Sorcs1 T C 19: 50,139,659 (GRCm39) I1168V probably benign Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Trim9 T C 12: 70,297,969 (GRCm39) T579A probably damaging Het
Trpc2 G A 7: 101,733,711 (GRCm39) S220N probably damaging Het
Ube2j1 A T 4: 33,036,723 (GRCm39) M16L probably benign Het
Usp42 C T 5: 143,701,194 (GRCm39) S943N probably benign Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn2r62 G A 7: 42,437,311 (GRCm39) P391L probably benign Het
Zfa-ps T A 10: 52,420,636 (GRCm39) noncoding transcript Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R probably damaging Het
Other mutations in Fbxw18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Fbxw18 APN 9 109,522,411 (GRCm39) missense probably benign 0.00
IGL00820:Fbxw18 APN 9 109,522,437 (GRCm39) missense probably damaging 1.00
IGL01447:Fbxw18 APN 9 109,530,675 (GRCm39) missense probably damaging 1.00
IGL01511:Fbxw18 APN 9 109,517,889 (GRCm39) missense possibly damaging 0.83
IGL01956:Fbxw18 APN 9 109,522,425 (GRCm39) missense probably damaging 0.98
IGL02089:Fbxw18 APN 9 109,530,390 (GRCm39) missense probably benign 0.00
PIT4810001:Fbxw18 UTSW 9 109,505,958 (GRCm39) nonsense probably null
R0004:Fbxw18 UTSW 9 109,530,381 (GRCm39) missense probably damaging 0.96
R0124:Fbxw18 UTSW 9 109,520,583 (GRCm39) missense probably benign 0.00
R0375:Fbxw18 UTSW 9 109,517,907 (GRCm39) missense possibly damaging 0.63
R1652:Fbxw18 UTSW 9 109,519,695 (GRCm39) missense probably benign 0.35
R2153:Fbxw18 UTSW 9 109,522,438 (GRCm39) missense probably damaging 1.00
R2294:Fbxw18 UTSW 9 109,505,865 (GRCm39) missense probably damaging 1.00
R4706:Fbxw18 UTSW 9 109,519,585 (GRCm39) missense probably benign 0.00
R4982:Fbxw18 UTSW 9 109,531,719 (GRCm39) start gained probably benign
R4990:Fbxw18 UTSW 9 109,517,461 (GRCm39) missense probably damaging 0.99
R5314:Fbxw18 UTSW 9 109,522,246 (GRCm39) missense possibly damaging 0.90
R5520:Fbxw18 UTSW 9 109,520,589 (GRCm39) missense probably benign 0.00
R5634:Fbxw18 UTSW 9 109,505,871 (GRCm39) missense possibly damaging 0.49
R5718:Fbxw18 UTSW 9 109,520,636 (GRCm39) missense probably benign 0.01
R5894:Fbxw18 UTSW 9 109,529,235 (GRCm39) missense possibly damaging 0.83
R5928:Fbxw18 UTSW 9 109,529,149 (GRCm39) missense probably damaging 0.99
R6175:Fbxw18 UTSW 9 109,505,947 (GRCm39) missense probably damaging 1.00
R6696:Fbxw18 UTSW 9 109,517,832 (GRCm39) missense probably benign 0.09
R6944:Fbxw18 UTSW 9 109,531,655 (GRCm39) missense probably damaging 1.00
R7396:Fbxw18 UTSW 9 109,517,954 (GRCm39) missense probably benign 0.19
R7737:Fbxw18 UTSW 9 109,530,331 (GRCm39) nonsense probably null
R7883:Fbxw18 UTSW 9 109,517,474 (GRCm39) missense probably damaging 1.00
R9002:Fbxw18 UTSW 9 109,519,660 (GRCm39) missense probably damaging 1.00
R9053:Fbxw18 UTSW 9 109,517,491 (GRCm39) missense probably benign 0.02
R9782:Fbxw18 UTSW 9 109,522,376 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AGTCTCAAGATCTCTTCTGAGC -3'
(R):5'- AGGGACTGGGTTCTACTGTC -3'

Sequencing Primer
(F):5'- CTGAGCAGTAGTCAAATGTCTGC -3'
(R):5'- TCAGAGCCTGAATTTCCATGG -3'
Posted On 2015-03-18