Incidental Mutation 'IGL01794:Fbxw2'
ID 155307
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw2
Ensembl Gene ENSMUSG00000035949
Gene Name F-box and WD-40 domain protein 2
Synonyms MD6, FBW2, Fwd2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01794
Quality Score
Status
Chromosome 2
Chromosomal Location 34694526-34716323 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 34701131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028220] [ENSMUST00000091020] [ENSMUST00000113075] [ENSMUST00000113077] [ENSMUST00000113078] [ENSMUST00000113080]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000028220
SMART Domains Protein: ENSMUSP00000028220
Gene: ENSMUSG00000035949

DomainStartEndE-ValueType
FBOX 60 100 4.19e-7 SMART
WD40 137 174 4.48e-2 SMART
WD40 177 212 6.19e-1 SMART
WD40 215 254 4.44e-6 SMART
WD40 257 305 4.95e0 SMART
WD40 311 351 6.6e1 SMART
Blast:WD40 409 451 6e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000091020
SMART Domains Protein: ENSMUSP00000088541
Gene: ENSMUSG00000035949

DomainStartEndE-ValueType
WD40 8 45 4.48e-2 SMART
WD40 48 83 6.19e-1 SMART
WD40 86 125 4.44e-6 SMART
WD40 128 176 4.95e0 SMART
WD40 182 222 6.6e1 SMART
Blast:WD40 280 322 2e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113075
SMART Domains Protein: ENSMUSP00000108698
Gene: ENSMUSG00000035949

DomainStartEndE-ValueType
FBOX 60 100 4.19e-7 SMART
WD40 137 174 4.48e-2 SMART
WD40 177 212 6.19e-1 SMART
WD40 215 254 4.44e-6 SMART
WD40 257 305 4.95e0 SMART
WD40 311 351 6.6e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113077
SMART Domains Protein: ENSMUSP00000108700
Gene: ENSMUSG00000035949

DomainStartEndE-ValueType
FBOX 60 100 4.19e-7 SMART
WD40 137 189 1.03e0 SMART
WD40 192 240 4.95e0 SMART
WD40 246 286 6.6e1 SMART
Blast:WD40 344 386 3e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113078
SMART Domains Protein: ENSMUSP00000108701
Gene: ENSMUSG00000035949

DomainStartEndE-ValueType
FBOX 60 100 4.19e-7 SMART
WD40 137 174 4.48e-2 SMART
WD40 177 212 6.19e-1 SMART
WD40 215 254 4.44e-6 SMART
WD40 257 305 4.95e0 SMART
WD40 311 351 6.6e1 SMART
Blast:WD40 409 451 6e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113080
SMART Domains Protein: ENSMUSP00000108703
Gene: ENSMUSG00000035949

DomainStartEndE-ValueType
FBOX 60 100 4.19e-7 SMART
WD40 137 174 4.48e-2 SMART
WD40 177 212 6.19e-1 SMART
WD40 215 254 4.44e-6 SMART
WD40 257 305 4.95e0 SMART
WD40 311 351 6.6e1 SMART
Blast:WD40 409 451 6e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145180
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145660
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,895,093 (GRCm39) R263* probably null Het
Appl2 A G 10: 83,450,158 (GRCm39) V238A probably benign Het
Bcl2l11 T A 2: 127,970,568 (GRCm39) S6T probably damaging Het
Bptf A G 11: 106,944,047 (GRCm39) probably null Het
Catsper3 T C 13: 55,946,719 (GRCm39) S139P possibly damaging Het
Cdh3 A G 8: 107,263,758 (GRCm39) N192S possibly damaging Het
Dsc1 A T 18: 20,243,240 (GRCm39) I71N probably damaging Het
Gad1 G T 2: 70,427,512 (GRCm39) V473L probably benign Het
Golm2 T A 2: 121,742,407 (GRCm39) N206K probably benign Het
Gtpbp1 C T 15: 79,600,447 (GRCm39) T460I probably damaging Het
Krt16 G A 11: 100,138,731 (GRCm39) T185I probably benign Het
Mapk1ip1 C T 7: 138,438,426 (GRCm39) M1I probably null Het
Nt5e A T 9: 88,249,351 (GRCm39) L428F probably damaging Het
Or5p54 A G 7: 107,554,502 (GRCm39) Y218C probably damaging Het
Pah G T 10: 87,414,784 (GRCm39) V379F possibly damaging Het
Scn7a T C 2: 66,505,853 (GRCm39) T1679A probably benign Het
Sdccag8 T A 1: 176,672,873 (GRCm39) H293Q possibly damaging Het
Spmip4 T C 6: 50,554,826 (GRCm39) I268M probably damaging Het
Suco A G 1: 161,655,294 (GRCm39) M1066T probably benign Het
Trim9 A G 12: 70,328,654 (GRCm39) Y369H probably damaging Het
Usp34 G A 11: 23,386,020 (GRCm39) R2149H probably damaging Het
Other mutations in Fbxw2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Fbxw2 APN 2 34,702,961 (GRCm39) missense probably benign 0.38
IGL00498:Fbxw2 APN 2 34,695,953 (GRCm39) missense probably damaging 1.00
IGL01359:Fbxw2 APN 2 34,712,762 (GRCm39) missense probably benign 0.07
IGL01770:Fbxw2 APN 2 34,701,038 (GRCm39) missense possibly damaging 0.56
IGL01934:Fbxw2 APN 2 34,712,618 (GRCm39) missense probably damaging 0.99
IGL02444:Fbxw2 APN 2 34,695,793 (GRCm39) missense probably benign 0.09
IGL02948:Fbxw2 APN 2 34,695,723 (GRCm39) makesense probably null
IGL03209:Fbxw2 APN 2 34,712,675 (GRCm39) missense probably damaging 1.00
silkpurse UTSW 2 34,702,825 (GRCm39) critical splice donor site probably null
R0597:Fbxw2 UTSW 2 34,701,032 (GRCm39) missense probably damaging 0.99
R0636:Fbxw2 UTSW 2 34,712,859 (GRCm39) nonsense probably null
R1489:Fbxw2 UTSW 2 34,702,829 (GRCm39) small insertion probably benign
R1920:Fbxw2 UTSW 2 34,712,776 (GRCm39) missense probably damaging 1.00
R3177:Fbxw2 UTSW 2 34,712,762 (GRCm39) missense probably benign 0.07
R3277:Fbxw2 UTSW 2 34,712,762 (GRCm39) missense probably benign 0.07
R6194:Fbxw2 UTSW 2 34,697,416 (GRCm39) missense probably damaging 1.00
R6236:Fbxw2 UTSW 2 34,712,845 (GRCm39) missense probably damaging 1.00
R6258:Fbxw2 UTSW 2 34,702,825 (GRCm39) critical splice donor site probably null
R7382:Fbxw2 UTSW 2 34,697,314 (GRCm39) missense probably benign 0.01
R7636:Fbxw2 UTSW 2 34,702,956 (GRCm39) missense probably benign 0.00
R8361:Fbxw2 UTSW 2 34,697,426 (GRCm39) missense possibly damaging 0.90
R8841:Fbxw2 UTSW 2 34,712,844 (GRCm39) start gained probably benign
Posted On 2014-02-04