Incidental Mutation 'R1974:Fbxw7'
ID 221368
Institutional Source Beutler Lab
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
MMRRC Submission 039987-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1974 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 84722575-84886505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84862242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 70 (C70S)
Ref Sequence ENSEMBL: ENSMUSP00000103302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029727] [ENSMUST00000107675] [ENSMUST00000107678] [ENSMUST00000107679] [ENSMUST00000154148]
AlphaFold Q8VBV4
Predicted Effect probably benign
Transcript: ENSMUST00000029727
AA Change: C110S

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029727
Gene: ENSMUSG00000028086
AA Change: C110S

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: C70S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103302
Gene: ENSMUSG00000028086
AA Change: C70S

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 benign
Transcript: ENSMUST00000107678
AA Change: C191S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103305
Gene: ENSMUSG00000028086
AA Change: C191S

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 benign
Transcript: ENSMUST00000107679
AA Change: C191S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103306
Gene: ENSMUSG00000028086
AA Change: C191S

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,028 (GRCm39) L739Q probably damaging Het
4933436I01Rik A T X: 66,963,655 (GRCm39) Y401* probably null Het
Abcg3 A G 5: 105,111,504 (GRCm39) V321A probably benign Het
Acad10 C A 5: 121,764,248 (GRCm39) V894L possibly damaging Het
Adam9 A G 8: 25,482,240 (GRCm39) I255T probably damaging Het
Ago3 T C 4: 126,240,544 (GRCm39) Y785C probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Akap4 A G X: 6,943,595 (GRCm39) S633G probably benign Het
Alox15 T A 11: 70,240,799 (GRCm39) T194S probably benign Het
Amh T C 10: 80,642,250 (GRCm39) S207P probably benign Het
Apc T A 18: 34,433,057 (GRCm39) C415S possibly damaging Het
Atg14 G A 14: 47,783,298 (GRCm39) R346C probably damaging Het
Atp5mf A T 5: 145,121,389 (GRCm39) L64Q probably damaging Het
Barhl2 C G 5: 106,605,179 (GRCm39) E177Q probably benign Het
C1qtnf5 T C 9: 44,020,072 (GRCm39) V232A probably damaging Het
Calr T C 8: 85,570,786 (GRCm39) I290V probably benign Het
Cdh19 G C 1: 110,817,889 (GRCm39) Q618E possibly damaging Het
Celsr2 G T 3: 108,321,530 (GRCm39) D427E probably damaging Het
Cep250 T C 2: 155,831,424 (GRCm39) S1294P probably damaging Het
Chrna7 T A 7: 62,749,034 (GRCm39) T483S probably damaging Het
Clmn A T 12: 104,758,121 (GRCm39) W132R probably damaging Het
Cpsf2 G A 12: 101,956,306 (GRCm39) D370N probably benign Het
Crnn T C 3: 93,056,594 (GRCm39) V460A probably benign Het
Daam1 T A 12: 72,035,703 (GRCm39) I957N probably damaging Het
Defb9 T C 8: 22,371,905 (GRCm39) K36R probably benign Het
Dock10 T A 1: 80,488,143 (GRCm39) I2007F possibly damaging Het
Dpm1 A T 2: 168,059,667 (GRCm39) V143D probably damaging Het
Dync1h1 T C 12: 110,592,166 (GRCm39) V1110A possibly damaging Het
Erlec1 T G 11: 30,889,604 (GRCm39) K373N possibly damaging Het
Fbxo40 C T 16: 36,790,303 (GRCm39) G269E probably benign Het
Fhip2a T C 19: 57,373,809 (GRCm39) F690L probably damaging Het
Fnbp1 G T 2: 30,943,059 (GRCm39) R280S probably null Het
Gapvd1 G A 2: 34,590,853 (GRCm39) R940C probably damaging Het
Gfod2 T C 8: 106,444,142 (GRCm39) K134E possibly damaging Het
Gpi1 A T 7: 33,920,228 (GRCm39) probably null Het
Grik2 A T 10: 49,008,923 (GRCm39) N721K possibly damaging Het
Gsn G T 2: 35,191,483 (GRCm39) G455V probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hpse A G 5: 100,840,104 (GRCm39) S338P probably damaging Het
Hyal2 T C 9: 107,449,371 (GRCm39) C376R probably damaging Het
Inf2 A G 12: 112,574,771 (GRCm39) T781A unknown Het
Iscu A G 5: 113,915,079 (GRCm39) probably benign Het
Kcna4 G A 2: 107,126,565 (GRCm39) G433D possibly damaging Het
Kir3dl2 T A X: 135,357,024 (GRCm39) N146I probably benign Het
Klrg1 T A 6: 122,259,721 (GRCm39) Q17L possibly damaging Het
Krt82 T G 15: 101,453,597 (GRCm39) Q263P probably benign Het
Mfrp T C 9: 44,017,669 (GRCm39) C554R probably damaging Het
Minar1 T G 9: 89,483,256 (GRCm39) T714P probably damaging Het
Mst1r T C 9: 107,791,962 (GRCm39) Y833H probably damaging Het
Mst1r T A 9: 107,793,132 (GRCm39) probably null Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nipal4 T C 11: 46,042,210 (GRCm39) N157S probably damaging Het
Notch2 G A 3: 97,980,071 (GRCm39) G195D probably damaging Het
Nrcam A T 12: 44,610,776 (GRCm39) H492L probably benign Het
Or10aa1 A T 1: 173,870,154 (GRCm39) I213F probably damaging Het
Or4p21 A T 2: 88,276,853 (GRCm39) I143N probably damaging Het
Papln G A 12: 83,828,811 (GRCm39) R817H probably damaging Het
Pcnx2 T C 8: 126,614,110 (GRCm39) E447G probably benign Het
Pdp2 T C 8: 105,320,538 (GRCm39) V129A probably benign Het
Plch2 A G 4: 155,069,410 (GRCm39) F1072S possibly damaging Het
Prag1 T A 8: 36,570,081 (GRCm39) D221E probably damaging Het
Prkg1 T C 19: 31,563,095 (GRCm39) D102G probably damaging Het
Psme4 T A 11: 30,769,011 (GRCm39) D662E probably benign Het
Ptprn T C 1: 75,231,464 (GRCm39) probably null Het
Ptprz1 A G 6: 22,986,310 (GRCm39) D370G probably damaging Het
Qser1 A G 2: 104,590,886 (GRCm39) S1637P probably damaging Het
Sema6a T A 18: 47,403,696 (GRCm39) H642L probably benign Het
Slc30a5 A T 13: 100,950,461 (GRCm39) F209I probably benign Het
Slc4a3 G T 1: 75,528,835 (GRCm39) E508* probably null Het
Stpg2 C T 3: 139,014,944 (GRCm39) R370* probably null Het
Tas2r113 T A 6: 132,870,796 (GRCm39) F275I probably benign Het
Tmem132d T G 5: 128,346,263 (GRCm39) K86N probably damaging Het
Tpgs2 A T 18: 25,273,593 (GRCm39) F189L probably damaging Het
Trmt6 A G 2: 132,652,968 (GRCm39) S104P probably damaging Het
Trpv3 T C 11: 73,174,514 (GRCm39) S294P probably damaging Het
Ugt2b36 A G 5: 87,228,727 (GRCm39) probably null Het
Vmn1r170 A T 7: 23,305,906 (GRCm39) M103L probably benign Het
Vmn2r107 T A 17: 20,575,879 (GRCm39) probably null Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Vmn2r77 T C 7: 86,449,964 (GRCm39) V70A probably benign 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
IGL02630:Fbxw7 APN 3 84,872,586 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CCCAGTAGAATACTAAGGGAACATTAC -3'
(R):5'- TCCAAGATGGACAGTGCCAG -3'

Sequencing Primer
(F):5'- GGGAACATTACCTATCCAGTCC -3'
(R):5'- ATGGACAGTGCCAGCCCTTC -3'
Posted On 2014-08-25