Incidental Mutation 'IGL02630:Fbxw7'
ID 301252
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw7
Ensembl Gene ENSMUSG00000028086
Gene Name F-box and WD-40 domain protein 7
Synonyms Fbxw6, 1110001A17Rik, Cdc4, SEL-10, Fbxo30, AGO, Fbw7
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02630
Quality Score
Status
Chromosome 3
Chromosomal Location 84722575-84886505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84872586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 256 (L256S)
Ref Sequence ENSEMBL: ENSMUSP00000103306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029727] [ENSMUST00000107675] [ENSMUST00000107678] [ENSMUST00000107679] [ENSMUST00000154148]
AlphaFold Q8VBV4
Predicted Effect probably damaging
Transcript: ENSMUST00000029727
AA Change: L175S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029727
Gene: ENSMUSG00000028086
AA Change: L175S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 139 146 N/A INTRINSIC
FBOX 206 246 3.7e-8 SMART
WD40 291 329 3.14e-6 SMART
WD40 332 369 2.1e-7 SMART
WD40 372 409 7.55e-9 SMART
WD40 412 449 2.22e-6 SMART
WD40 452 489 1.07e-8 SMART
WD40 492 529 1.75e-4 SMART
WD40 532 572 2.32e-9 SMART
WD40 575 623 2.37e2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107675
AA Change: L135S

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103302
Gene: ENSMUSG00000028086
AA Change: L135S

DomainStartEndE-ValueType
low complexity region 99 106 N/A INTRINSIC
FBOX 166 206 3.7e-8 SMART
WD40 251 289 3.14e-6 SMART
WD40 292 329 2.1e-7 SMART
WD40 332 369 7.55e-9 SMART
WD40 372 409 2.22e-6 SMART
WD40 412 449 1.07e-8 SMART
WD40 452 489 1.75e-4 SMART
WD40 492 532 2.32e-9 SMART
WD40 535 583 2.37e2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107678
AA Change: L256S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103305
Gene: ENSMUSG00000028086
AA Change: L256S

DomainStartEndE-ValueType
coiled coil region 94 129 N/A INTRINSIC
low complexity region 220 227 N/A INTRINSIC
FBOX 287 327 3.7e-8 SMART
WD40 372 410 3.14e-6 SMART
WD40 413 450 2.1e-7 SMART
WD40 453 490 7.55e-9 SMART
WD40 493 530 2.22e-6 SMART
WD40 533 570 1.07e-8 SMART
WD40 573 610 1.75e-4 SMART
WD40 613 653 2.32e-9 SMART
WD40 656 704 2.37e2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107679
AA Change: L256S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103306
Gene: ENSMUSG00000028086
AA Change: L256S

DomainStartEndE-ValueType
coiled coil region 94 129 N/A INTRINSIC
low complexity region 220 227 N/A INTRINSIC
FBOX 287 327 3.7e-8 SMART
WD40 372 410 3.14e-6 SMART
WD40 413 450 2.1e-7 SMART
WD40 453 490 7.55e-9 SMART
WD40 493 530 2.22e-6 SMART
WD40 533 570 1.07e-8 SMART
WD40 573 610 1.75e-4 SMART
WD40 613 653 2.32e-9 SMART
WD40 656 704 2.37e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151410
Predicted Effect probably benign
Transcript: ENSMUST00000154148
SMART Domains Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805

DomainStartEndE-ValueType
Arfaptin 1 227 7.15e-121 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous inactivation of this locus disrupts embryonic and extraembryonic vasculature, resulting in death by midgestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,441 (GRCm39) V3575E probably damaging Het
Arfgef3 G A 10: 18,537,140 (GRCm39) probably benign Het
Arhgap23 A G 11: 97,345,123 (GRCm39) T631A probably benign Het
Chka T A 19: 3,942,112 (GRCm39) H355Q possibly damaging Het
Ctsj C T 13: 61,149,214 (GRCm39) A277T probably damaging Het
Ddx49 T C 8: 70,753,668 (GRCm39) D67G probably damaging Het
Dennd4b T C 3: 90,180,284 (GRCm39) S716P probably benign Het
Enpp5 G T 17: 44,393,766 (GRCm39) D321Y probably damaging Het
Espl1 A G 15: 102,205,253 (GRCm39) E17G probably benign Het
Fam161b G A 12: 84,400,688 (GRCm39) P428L probably benign Het
Fgfr2 G T 7: 129,830,525 (GRCm39) probably null Het
Foxred2 C T 15: 77,831,362 (GRCm39) V484I probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
H3c1 C T 13: 23,946,231 (GRCm39) V36M probably benign Het
Hipk2 T C 6: 38,795,456 (GRCm39) N271S possibly damaging Het
Ifna1 A G 4: 88,768,496 (GRCm39) D58G possibly damaging Het
Igkv4-80 A T 6: 68,993,680 (GRCm39) Y70* probably null Het
Ivns1abp G A 1: 151,235,386 (GRCm39) R218H probably damaging Het
Kng1 A T 16: 22,898,595 (GRCm39) probably benign Het
Lars1 T C 18: 42,390,234 (GRCm39) D11G probably damaging Het
Lgals12 T C 19: 7,578,607 (GRCm39) probably benign Het
Lpar4 T A X: 105,974,817 (GRCm39) F334I probably benign Het
Muc5b G A 7: 141,416,968 (GRCm39) G3305S probably benign Het
Nalcn T C 14: 123,555,291 (GRCm39) D864G probably benign Het
Ndor1 T C 2: 25,145,299 (GRCm39) E22G probably damaging Het
Nt5c2 T A 19: 46,912,749 (GRCm39) M69L probably benign Het
Or52ab4 A C 7: 102,987,636 (GRCm39) Y125S probably damaging Het
Or8k22 T C 2: 86,163,212 (GRCm39) I163V probably benign Het
Pde12 A T 14: 26,387,552 (GRCm39) H455Q probably damaging Het
Pdia6 A G 12: 17,324,422 (GRCm39) H91R probably benign Het
Pdk4 A T 6: 5,491,671 (GRCm39) I179K possibly damaging Het
Prl2c1 T C 13: 28,041,480 (GRCm39) probably benign Het
Rasgrf2 C T 13: 92,267,900 (GRCm39) E35K probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Secisbp2 C A 13: 51,832,942 (GRCm39) T608K possibly damaging Het
Slco1a7 T C 6: 141,668,836 (GRCm39) Y532C probably damaging Het
Slmap A G 14: 26,143,586 (GRCm39) V750A possibly damaging Het
Spaca6 T A 17: 18,051,351 (GRCm39) L9Q probably damaging Het
Sycp1 T C 3: 102,786,080 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,712 (GRCm39) D131E probably damaging Het
Tc2n A T 12: 101,659,404 (GRCm39) D176E probably damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Trank1 T C 9: 111,202,143 (GRCm39) V1590A possibly damaging Het
Tyrp1 T C 4: 80,758,994 (GRCm39) V289A possibly damaging Het
Ube2dnl1 T A X: 113,815,483 (GRCm39) C119* probably null Het
Vmn1r191 T A 13: 22,363,431 (GRCm39) I108F possibly damaging Het
Zfp710 T A 7: 79,731,789 (GRCm39) I322N probably damaging Het
Other mutations in Fbxw7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Fbxw7 APN 3 84,876,616 (GRCm39) intron probably benign
IGL01468:Fbxw7 APN 3 84,879,806 (GRCm39) missense probably benign 0.21
IGL01946:Fbxw7 APN 3 84,811,369 (GRCm39) missense possibly damaging 0.60
IGL02248:Fbxw7 APN 3 84,810,940 (GRCm39) missense possibly damaging 0.94
IGL02957:Fbxw7 APN 3 84,883,544 (GRCm39) missense probably benign 0.00
PIT4453001:Fbxw7 UTSW 3 84,872,621 (GRCm39) missense
R0043:Fbxw7 UTSW 3 84,879,874 (GRCm39) intron probably benign
R0312:Fbxw7 UTSW 3 84,874,876 (GRCm39) intron probably benign
R0595:Fbxw7 UTSW 3 84,884,674 (GRCm39) splice site probably null
R1664:Fbxw7 UTSW 3 84,876,478 (GRCm39) missense possibly damaging 0.45
R1709:Fbxw7 UTSW 3 84,883,659 (GRCm39) missense probably damaging 1.00
R1782:Fbxw7 UTSW 3 84,811,126 (GRCm39) missense probably benign
R1974:Fbxw7 UTSW 3 84,862,242 (GRCm39) missense possibly damaging 0.53
R2081:Fbxw7 UTSW 3 84,881,820 (GRCm39) missense probably damaging 1.00
R2843:Fbxw7 UTSW 3 84,883,527 (GRCm39) missense probably damaging 1.00
R3732:Fbxw7 UTSW 3 84,833,014 (GRCm39) missense possibly damaging 0.72
R3732:Fbxw7 UTSW 3 84,833,014 (GRCm39) missense possibly damaging 0.72
R3733:Fbxw7 UTSW 3 84,833,014 (GRCm39) missense possibly damaging 0.72
R4333:Fbxw7 UTSW 3 84,879,802 (GRCm39) missense probably damaging 1.00
R4335:Fbxw7 UTSW 3 84,879,802 (GRCm39) missense probably damaging 1.00
R4581:Fbxw7 UTSW 3 84,874,852 (GRCm39) missense probably benign 0.41
R4776:Fbxw7 UTSW 3 84,832,996 (GRCm39) missense possibly damaging 0.53
R4799:Fbxw7 UTSW 3 84,811,168 (GRCm39) nonsense probably null
R4822:Fbxw7 UTSW 3 84,874,814 (GRCm39) missense possibly damaging 0.94
R5512:Fbxw7 UTSW 3 84,862,216 (GRCm39) missense probably damaging 0.99
R5601:Fbxw7 UTSW 3 84,883,515 (GRCm39) missense probably damaging 1.00
R5679:Fbxw7 UTSW 3 84,884,794 (GRCm39) missense probably damaging 1.00
R6026:Fbxw7 UTSW 3 84,859,948 (GRCm39) critical splice donor site probably null
R6182:Fbxw7 UTSW 3 84,723,078 (GRCm39) critical splice donor site probably null
R6219:Fbxw7 UTSW 3 84,876,520 (GRCm39) missense probably damaging 0.99
R6305:Fbxw7 UTSW 3 84,883,630 (GRCm39) missense probably damaging 1.00
R6473:Fbxw7 UTSW 3 84,859,687 (GRCm39) intron probably benign
R6823:Fbxw7 UTSW 3 84,865,934 (GRCm39) missense probably benign 0.33
R6922:Fbxw7 UTSW 3 84,879,723 (GRCm39) splice site probably null
R7163:Fbxw7 UTSW 3 84,832,892 (GRCm39) intron probably benign
R7229:Fbxw7 UTSW 3 84,884,676 (GRCm39) missense unknown
R7554:Fbxw7 UTSW 3 84,883,620 (GRCm39) missense
R7677:Fbxw7 UTSW 3 84,811,373 (GRCm39) missense
R7711:Fbxw7 UTSW 3 84,832,988 (GRCm39) missense probably benign
R7713:Fbxw7 UTSW 3 84,874,872 (GRCm39) critical splice donor site probably null
R7873:Fbxw7 UTSW 3 84,833,071 (GRCm39) missense possibly damaging 0.53
R8319:Fbxw7 UTSW 3 84,881,859 (GRCm39) missense
R8712:Fbxw7 UTSW 3 84,859,684 (GRCm39) missense unknown
R8802:Fbxw7 UTSW 3 84,859,693 (GRCm39) missense unknown
R8805:Fbxw7 UTSW 3 84,862,227 (GRCm39) missense
R8887:Fbxw7 UTSW 3 84,876,549 (GRCm39) missense
R8905:Fbxw7 UTSW 3 84,872,634 (GRCm39) missense possibly damaging 0.89
R9358:Fbxw7 UTSW 3 84,883,561 (GRCm39) missense
Posted On 2015-04-16