Incidental Mutation 'IGL01447:Fbxw18'
ID 84446
Institutional Source Australian Phenomics Network (link to record)
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: 0.061) question?
Stock # IGL01447
Quality Score
Status
Chromosome 9
Chromosomal Location 109505802-109531768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109530675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 41 (S41C)
Ref Sequence ENSEMBL: ENSMUSP00000095962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098359]
AlphaFold Q3TSA9
Predicted Effect probably damaging
Transcript: ENSMUST00000098359
AA Change: S41C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095962
Gene: ENSMUSG00000074059
AA Change: S41C

DomainStartEndE-ValueType
FBOX 8 48 4.13e-6 SMART
Blast:WD40 140 179 2e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198949
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip T G 2: 22,743,194 (GRCm39) I342S probably damaging Het
Armh4 A T 14: 50,005,923 (GRCm39) S591T probably damaging Het
Atp6v1e1 T C 6: 120,772,654 (GRCm39) probably benign Het
Brwd1 A T 16: 95,848,579 (GRCm39) C533* probably null Het
Cacna2d4 A G 6: 119,219,865 (GRCm39) S212G probably damaging Het
Ccn5 A G 2: 163,670,942 (GRCm39) R150G probably damaging Het
Cit T C 5: 116,011,902 (GRCm39) probably benign Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cmklr1 T C 5: 113,752,282 (GRCm39) T240A probably benign Het
D630003M21Rik T C 2: 158,059,276 (GRCm39) D208G probably benign Het
Egr3 C A 14: 70,316,732 (GRCm39) P143Q probably damaging Het
Focad T A 4: 88,244,465 (GRCm39) I815N unknown Het
Heatr5b T C 17: 79,137,026 (GRCm39) T165A probably benign Het
Iqub G T 6: 24,505,627 (GRCm39) L94I probably benign Het
Lrrc32 T C 7: 98,147,583 (GRCm39) L121P probably damaging Het
Mansc1 G A 6: 134,594,289 (GRCm39) L118F probably damaging Het
Mtor A G 4: 148,615,214 (GRCm39) H1693R possibly damaging Het
Muc5b A G 7: 141,416,831 (GRCm39) Q3259R probably benign Het
Nmnat2 A G 1: 152,988,189 (GRCm39) S273G possibly damaging Het
Npr2 T C 4: 43,640,554 (GRCm39) C336R possibly damaging Het
Or10al6 C T 17: 38,083,122 (GRCm39) L193F probably damaging Het
Or1f19 A G 16: 3,410,848 (GRCm39) N196S possibly damaging Het
Or1j11 A T 2: 36,311,466 (GRCm39) I19F probably damaging Het
Or56b1b A G 7: 108,164,216 (GRCm39) V262A possibly damaging Het
Or5aq1 A T 2: 86,966,343 (GRCm39) Y107* probably null Het
Or5d36 T C 2: 87,901,468 (GRCm39) N86S possibly damaging Het
Rad54l2 C T 9: 106,579,971 (GRCm39) A967T probably damaging Het
Rspo1 T C 4: 124,898,829 (GRCm39) V50A possibly damaging Het
Sar1b C T 11: 51,682,274 (GRCm39) probably benign Het
Scamp1 C T 13: 94,340,530 (GRCm39) A280T probably damaging Het
Spcs2 A G 7: 99,488,911 (GRCm39) I251T probably benign Het
Sspo G T 6: 48,441,600 (GRCm39) probably null Het
Tpm2 T A 4: 43,518,251 (GRCm39) K251* probably null Het
Ttn A G 2: 76,571,250 (GRCm39) S26548P probably damaging Het
Ugcg T G 4: 59,213,865 (GRCm39) V149G possibly damaging Het
Unc79 T A 12: 103,045,177 (GRCm39) N784K probably damaging Het
Vit A G 17: 78,932,633 (GRCm39) D580G probably damaging Het
Vmn1r83 T C 7: 12,055,424 (GRCm39) K211R probably benign Het
Zbtb3 A G 19: 8,781,680 (GRCm39) Y431C probably damaging Het
Zfp608 T C 18: 55,032,083 (GRCm39) D619G possibly 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
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
R3738:Fbxw18 UTSW 9 109,517,981 (GRCm39) missense possibly damaging 0.57
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
Posted On 2013-11-11