Incidental Mutation 'IGL02948:Fbxw2'
ID 364849
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 # IGL02948
Quality Score
Status
Chromosome 2
Chromosomal Location 34694526-34716323 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 34695723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 455 (*455W)
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 null
Transcript: ENSMUST00000028220
AA Change: *455W
SMART Domains Protein: ENSMUSP00000028220
Gene: ENSMUSG00000035949
AA Change: *455W

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 null
Transcript: ENSMUST00000091020
AA Change: *326W
SMART Domains Protein: ENSMUSP00000088541
Gene: ENSMUSG00000035949
AA Change: *326W

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 null
Transcript: ENSMUST00000113077
AA Change: *390W
SMART Domains Protein: ENSMUSP00000108700
Gene: ENSMUSG00000035949
AA Change: *390W

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 null
Transcript: ENSMUST00000113078
AA Change: *455W
SMART Domains Protein: ENSMUSP00000108701
Gene: ENSMUSG00000035949
AA Change: *455W

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 null
Transcript: ENSMUST00000113080
AA Change: *455W
SMART Domains Protein: ENSMUSP00000108703
Gene: ENSMUSG00000035949
AA Change: *455W

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: ENSMUST00000145180
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156130
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,318 (GRCm39) probably benign Het
Ano3 A T 2: 110,527,363 (GRCm39) probably benign Het
Arpp21 T C 9: 112,005,268 (GRCm39) Y193C probably damaging Het
Atm G A 9: 53,364,740 (GRCm39) probably benign Het
Ceacam13 C T 7: 17,744,988 (GRCm39) probably benign Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Clec7a A C 6: 129,442,441 (GRCm39) D195E possibly damaging Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cntn1 A G 15: 92,143,891 (GRCm39) T285A probably benign Het
Dusp4 G T 8: 35,285,726 (GRCm39) G329V probably damaging Het
Emb C A 13: 117,409,602 (GRCm39) probably benign Het
Esyt1 A T 10: 128,355,040 (GRCm39) S496T probably damaging Het
Evpl T C 11: 116,112,648 (GRCm39) T1681A probably damaging Het
Fam131b A C 6: 42,297,926 (GRCm39) probably benign Het
Fam162b T C 10: 51,463,392 (GRCm39) M92V probably damaging Het
Gm12886 A G 4: 121,280,234 (GRCm39) L14P unknown Het
Gpc4 A T X: 51,163,178 (GRCm39) V235E probably damaging Het
Gss A G 2: 155,419,541 (GRCm39) L170P probably damaging Het
Hbs1l C T 10: 21,217,610 (GRCm39) probably benign Het
Hhatl T C 9: 121,618,857 (GRCm39) M92V probably benign Het
Hhla1 A T 15: 65,814,542 (GRCm39) L194H probably damaging Het
Hivep2 C A 10: 14,004,757 (GRCm39) R452S probably benign Het
Homer2 C A 7: 81,299,393 (GRCm39) W24L probably damaging Het
Lhcgr A T 17: 89,050,050 (GRCm39) L492H probably damaging Het
Lrba C A 3: 86,217,691 (GRCm39) probably null Het
Lrp2 G T 2: 69,318,181 (GRCm39) P2090Q probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Madd T A 2: 90,973,172 (GRCm39) M1497L probably benign Het
Naprt C T 15: 75,764,206 (GRCm39) R336Q probably damaging Het
Nars1 A G 18: 64,638,266 (GRCm39) C266R possibly damaging Het
Or10v1 T A 19: 11,874,145 (GRCm39) Y253* probably null Het
Or5k8 T A 16: 58,644,451 (GRCm39) Q207L probably benign Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pstpip2 A G 18: 77,942,507 (GRCm39) N86S probably benign Het
Ptgfrn T C 3: 100,980,135 (GRCm39) T402A probably benign Het
Rnf130 T C 11: 49,943,598 (GRCm39) probably benign Het
Ropn1l T C 15: 31,451,325 (GRCm39) D53G possibly damaging Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Rtn2 T C 7: 19,027,036 (GRCm39) S17P probably damaging Het
Shank2 T C 7: 143,963,373 (GRCm39) V327A probably benign Het
Slc22a16 T G 10: 40,449,958 (GRCm39) Y131* probably null Het
Slc28a2 T A 2: 122,288,458 (GRCm39) M583K possibly damaging Het
Slco1a6 G T 6: 142,078,961 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Strip1 T C 3: 107,520,582 (GRCm39) R823G probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tmem104 G T 11: 115,088,122 (GRCm39) A36S probably damaging Het
Trim55 T A 3: 19,725,116 (GRCm39) L211Q probably damaging Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Unc13a C T 8: 72,103,193 (GRCm39) R931H possibly damaging Het
Utp4 T A 8: 107,621,273 (GRCm39) S17T probably benign 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
IGL01794:Fbxw2 APN 2 34,701,131 (GRCm39) splice site probably benign
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
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 2015-12-18