Incidental Mutation 'IGL01883:Fbxw28'
ID 179051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw28
Ensembl Gene ENSMUSG00000054087
Gene Name F-box and WD-40 domain protein 28
Synonyms Gm9337
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL01883
Quality Score
Status
Chromosome 9
Chromosomal Location 109151954-109168727 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109157393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 285 (V285E)
Ref Sequence ENSEMBL: ENSMUSP00000107671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112039] [ENSMUST00000112040] [ENSMUST00000196351] [ENSMUST00000200156]
AlphaFold E9Q8A4
Predicted Effect probably benign
Transcript: ENSMUST00000112039
AA Change: V285E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107670
Gene: ENSMUSG00000054087
AA Change: V285E

DomainStartEndE-ValueType
FBOX 5 45 3.13e-6 SMART
SCOP:d1tbga_ 127 249 4e-9 SMART
Blast:WD40 136 175 3e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000112040
AA Change: V285E

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107671
Gene: ENSMUSG00000054087
AA Change: V285E

DomainStartEndE-ValueType
FBOX 5 45 3.13e-6 SMART
SCOP:d1tbga_ 127 249 4e-9 SMART
Blast:WD40 136 175 4e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000196351
SMART Domains Protein: ENSMUSP00000143357
Gene: ENSMUSG00000054087

DomainStartEndE-ValueType
FBOX 5 45 2e-8 SMART
SCOP:d1aym1_ 54 102 2e-3 SMART
Blast:WD40 172 211 5e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000200156
AA Change: V232E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000143361
Gene: ENSMUSG00000054087
AA Change: V232E

DomainStartEndE-ValueType
FBOX 5 45 2e-8 SMART
SCOP:d1tbga_ 127 208 2e-3 SMART
Blast:WD40 136 175 4e-6 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 C A 1: 58,177,442 (GRCm39) P219Q probably damaging Het
Arl2 A G 19: 6,187,521 (GRCm39) L109P probably damaging Het
Bhlha9 T C 11: 76,563,924 (GRCm39) S184P probably benign Het
C2cd3 G A 7: 100,023,693 (GRCm39) R93H possibly damaging Het
Cdcp1 A G 9: 123,012,663 (GRCm39) F295L probably benign Het
Cpsf7 A T 19: 10,503,387 (GRCm39) D6V possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm18025 T A 12: 34,340,692 (GRCm39) I134F probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Kif11 A C 19: 37,372,791 (GRCm39) T60P probably benign Het
Myo7b T C 18: 32,131,204 (GRCm39) D521G probably damaging Het
Polg A G 7: 79,108,066 (GRCm39) L583P probably damaging Het
Ppp6r1 A T 7: 4,642,986 (GRCm39) probably null Het
Rmc1 G A 18: 12,311,296 (GRCm39) V125I probably benign Het
Snap91 A T 9: 86,657,665 (GRCm39) W509R probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Tmem79 T C 3: 88,237,145 (GRCm39) N353D probably damaging Het
Other mutations in Fbxw28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02080:Fbxw28 APN 9 109,168,641 (GRCm39) missense probably damaging 1.00
IGL02313:Fbxw28 APN 9 109,166,420 (GRCm39) missense possibly damaging 0.76
R0029:Fbxw28 UTSW 9 109,157,357 (GRCm39) missense probably damaging 1.00
R0038:Fbxw28 UTSW 9 109,167,608 (GRCm39) missense probably damaging 1.00
R0058:Fbxw28 UTSW 9 109,157,279 (GRCm39) missense probably benign 0.22
R1288:Fbxw28 UTSW 9 109,166,361 (GRCm39) missense probably damaging 0.97
R1898:Fbxw28 UTSW 9 109,152,452 (GRCm39) missense probably benign 0.32
R2065:Fbxw28 UTSW 9 109,157,292 (GRCm39) missense probably benign 0.03
R2117:Fbxw28 UTSW 9 109,159,985 (GRCm39) missense probably benign 0.04
R3410:Fbxw28 UTSW 9 109,167,472 (GRCm39) missense possibly damaging 0.55
R3812:Fbxw28 UTSW 9 109,167,598 (GRCm39) missense possibly damaging 0.83
R4400:Fbxw28 UTSW 9 109,157,378 (GRCm39) missense probably damaging 1.00
R4840:Fbxw28 UTSW 9 109,168,602 (GRCm39) missense probably null 1.00
R4899:Fbxw28 UTSW 9 109,159,921 (GRCm39) missense probably damaging 0.99
R5129:Fbxw28 UTSW 9 109,155,671 (GRCm39) missense probably damaging 1.00
R5613:Fbxw28 UTSW 9 109,167,601 (GRCm39) missense probably benign 0.02
R5777:Fbxw28 UTSW 9 109,167,604 (GRCm39) missense probably damaging 0.98
R6029:Fbxw28 UTSW 9 109,158,493 (GRCm39) missense probably damaging 1.00
R6235:Fbxw28 UTSW 9 109,155,258 (GRCm39) missense probably damaging 1.00
R6367:Fbxw28 UTSW 9 109,168,599 (GRCm39) critical splice donor site probably null
R6820:Fbxw28 UTSW 9 109,167,493 (GRCm39) missense probably damaging 1.00
R6968:Fbxw28 UTSW 9 109,159,856 (GRCm39) missense probably benign 0.00
R7763:Fbxw28 UTSW 9 109,155,701 (GRCm39) missense probably damaging 0.96
R8104:Fbxw28 UTSW 9 109,155,357 (GRCm39) splice site probably null
R8407:Fbxw28 UTSW 9 109,155,269 (GRCm39) missense probably benign
R8414:Fbxw28 UTSW 9 109,155,604 (GRCm39) nonsense probably null
R8721:Fbxw28 UTSW 9 109,157,382 (GRCm39) missense probably benign 0.15
R8766:Fbxw28 UTSW 9 109,155,749 (GRCm39) missense probably benign 0.15
R8955:Fbxw28 UTSW 9 109,167,857 (GRCm39) critical splice acceptor site probably null
R9609:Fbxw28 UTSW 9 109,167,515 (GRCm39) missense probably benign 0.06
RF024:Fbxw28 UTSW 9 109,167,594 (GRCm39) nonsense probably null
Posted On 2014-05-07