Incidental Mutation 'IGL02948:Fbxw2'
ID364849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw2
Ensembl Gene ENSMUSG00000035949
Gene NameF-box and WD-40 domain protein 2
SynonymsMD6, FBW2, Fwd2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02948
Quality Score
Status
Chromosome2
Chromosomal Location34804514-34826311 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to C at 34805711 bp
ZygosityHeterozygous
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]
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: 23,094,319 probably benign Het
Ano3 A T 2: 110,697,018 probably benign Het
Arpp21 T C 9: 112,176,200 Y193C probably damaging Het
Atm G A 9: 53,453,440 probably benign Het
Ceacam13 C T 7: 18,011,063 probably benign Het
Cenpi T A X: 134,349,268 C599S possibly damaging Het
Clec7a A C 6: 129,465,478 D195E possibly damaging Het
Cnksr1 T C 4: 134,235,106 probably null Het
Cntn1 A G 15: 92,246,010 T285A probably benign Het
Dusp4 G T 8: 34,818,572 G329V probably damaging Het
Emb C A 13: 117,273,066 probably benign Het
Esyt1 A T 10: 128,519,171 S496T probably damaging Het
Evpl T C 11: 116,221,822 T1681A probably damaging Het
Fam131b A C 6: 42,320,992 probably benign Het
Fam162b T C 10: 51,587,296 M92V probably damaging Het
Gm12886 A G 4: 121,423,037 L14P unknown Het
Gpc4 A T X: 52,074,301 V235E probably damaging Het
Gss A G 2: 155,577,621 L170P probably damaging Het
Hbs1l C T 10: 21,341,711 probably benign Het
Hhatl T C 9: 121,789,791 M92V probably benign Het
Hhla1 A T 15: 65,942,693 L194H probably damaging Het
Hivep2 C A 10: 14,129,013 R452S probably benign Het
Homer2 C A 7: 81,649,645 W24L probably damaging Het
Lhcgr A T 17: 88,742,622 L492H probably damaging Het
Lrba C A 3: 86,310,384 probably null Het
Lrp2 G T 2: 69,487,837 P2090Q probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Madd T A 2: 91,142,827 M1497L probably benign Het
Naprt C T 15: 75,892,357 R336Q probably damaging Het
Nars A G 18: 64,505,195 C266R possibly damaging Het
Olfr1420 T A 19: 11,896,781 Y253* probably null Het
Olfr175-ps1 T A 16: 58,824,088 Q207L probably benign Het
Pard3 A T 8: 127,306,494 T190S probably benign Het
Pstpip2 A G 18: 77,854,807 N86S probably benign Het
Ptgfrn T C 3: 101,072,819 T402A probably benign Het
Rnf130 T C 11: 50,052,771 probably benign Het
Ropn1l T C 15: 31,451,179 D53G possibly damaging Het
Rps6ka2 G A 17: 7,254,450 probably null Het
Rtn2 T C 7: 19,293,111 S17P probably damaging Het
Shank2 T C 7: 144,409,636 V327A probably benign Het
Slc22a16 T G 10: 40,573,962 Y131* probably null Het
Slc28a2 T A 2: 122,457,977 M583K possibly damaging Het
Slco1a6 G T 6: 142,133,235 probably null Het
Slfn8 T A 11: 83,003,252 I854F probably damaging Het
Strip1 T C 3: 107,613,266 R823G probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tcl1b5 C T 12: 105,179,014 T79M probably benign Het
Tmem104 G T 11: 115,197,296 A36S probably damaging Het
Trim55 T A 3: 19,670,952 L211Q probably damaging Het
Trim80 T C 11: 115,441,593 W204R possibly damaging Het
Ttbk1 G A 17: 46,446,330 T1126I probably benign Het
Ubqln2 C T X: 153,499,696 Q415* probably null Het
Unc13a C T 8: 71,650,549 R931H possibly damaging Het
Utp4 T A 8: 106,894,641 S17T probably benign Het
Other mutations in Fbxw2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Fbxw2 APN 2 34812949 missense probably benign 0.38
IGL00498:Fbxw2 APN 2 34805941 missense probably damaging 1.00
IGL01359:Fbxw2 APN 2 34822750 missense probably benign 0.07
IGL01770:Fbxw2 APN 2 34811026 missense possibly damaging 0.56
IGL01794:Fbxw2 APN 2 34811119 splice site probably benign
IGL01934:Fbxw2 APN 2 34822606 missense probably damaging 0.99
IGL02444:Fbxw2 APN 2 34805781 missense probably benign 0.09
IGL03209:Fbxw2 APN 2 34822663 missense probably damaging 1.00
silkpurse UTSW 2 34812813 critical splice donor site probably null
R0597:Fbxw2 UTSW 2 34811020 missense probably damaging 0.99
R0636:Fbxw2 UTSW 2 34822847 nonsense probably null
R1489:Fbxw2 UTSW 2 34812817 small insertion probably benign
R1920:Fbxw2 UTSW 2 34822764 missense probably damaging 1.00
R3177:Fbxw2 UTSW 2 34822750 missense probably benign 0.07
R3277:Fbxw2 UTSW 2 34822750 missense probably benign 0.07
R6194:Fbxw2 UTSW 2 34807404 missense probably damaging 1.00
R6236:Fbxw2 UTSW 2 34822833 missense probably damaging 1.00
R6258:Fbxw2 UTSW 2 34812813 critical splice donor site probably null
R7382:Fbxw2 UTSW 2 34807302 missense probably benign 0.01
R7636:Fbxw2 UTSW 2 34812944 missense probably benign 0.00
R8361:Fbxw2 UTSW 2 34807414 missense possibly damaging 0.90
Posted On2015-12-18