Incidental Mutation 'R5512:Fbxw7'
ID 440075
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5512 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 84722575-84886505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84862216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 182 (R182H)
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: R101H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029727
Gene: ENSMUSG00000028086
AA Change: R101H

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: R61H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103302
Gene: ENSMUSG00000028086
AA Change: R61H

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: R182H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103305
Gene: ENSMUSG00000028086
AA Change: R182H

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: R182H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103306
Gene: ENSMUSG00000028086
AA Change: R182H

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A G 7: 130,952,389 (GRCm39) V364A possibly damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Adgre5 T C 8: 84,455,715 (GRCm39) N198D probably benign Het
Adgrf4 G T 17: 42,978,176 (GRCm39) T389K probably benign Het
Apc T A 18: 34,443,962 (GRCm39) probably benign Het
Appl2 T A 10: 83,441,682 (GRCm39) I524F probably damaging Het
Arhgef37 G A 18: 61,632,845 (GRCm39) Q531* probably null Het
Atp7b T C 8: 22,502,755 (GRCm39) T694A probably benign Het
Cacna1g T A 11: 94,334,968 (GRCm39) I780F probably damaging Het
Calcoco2 T C 11: 95,994,162 (GRCm39) K95E probably damaging Het
Cars1 T C 7: 143,123,870 (GRCm39) D388G possibly damaging Het
Ccdc150 A C 1: 54,393,806 (GRCm39) E690A probably damaging Het
Cdc73 G T 1: 143,578,354 (GRCm39) D3E probably damaging Het
Cdh23 C A 10: 60,370,165 (GRCm39) probably null Het
Cep170b T C 12: 112,699,919 (GRCm39) S143P possibly damaging Het
Cherp T C 8: 73,217,110 (GRCm39) I607V possibly damaging Het
CN725425 T A 15: 91,124,959 (GRCm39) H166Q probably benign Het
Dcaf6 A G 1: 165,227,404 (GRCm39) V241A possibly damaging Het
Dot1l C T 10: 80,624,825 (GRCm39) P881S possibly damaging Het
Drgx A G 14: 32,322,001 (GRCm39) H5R probably damaging Het
Dsg1c A T 18: 20,405,568 (GRCm39) N327I probably damaging Het
Fkbp1b A T 12: 4,888,183 (GRCm39) V24E probably benign Het
Fut11 T C 14: 20,746,069 (GRCm39) S304P probably damaging Het
Ggt1 C T 10: 75,420,718 (GRCm39) T361I probably damaging Het
Gimap7 G T 6: 48,700,530 (GRCm39) A39S probably benign Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gm17541 G T 12: 4,739,452 (GRCm39) probably benign Het
Gmip T A 8: 70,270,540 (GRCm39) V750E probably benign Het
Gna14 A G 19: 16,585,492 (GRCm39) E290G probably benign Het
Gpnmb T C 6: 49,022,398 (GRCm39) V176A possibly damaging Het
Hhla1 T C 15: 65,795,865 (GRCm39) K447R probably benign Het
Hsd3b1 A G 3: 98,760,521 (GRCm39) Y157H probably benign Het
Iqgap2 G A 13: 95,811,884 (GRCm39) Q706* probably null Het
Krt222 A C 11: 99,125,781 (GRCm39) S283R probably damaging Het
Ldb2 G A 5: 44,637,586 (GRCm39) R241W probably damaging Het
Lrrc8d G A 5: 105,960,651 (GRCm39) E354K probably benign Het
Lrrc8d C G 5: 105,960,650 (GRCm39) F353L probably damaging Het
Masp2 A T 4: 148,698,526 (GRCm39) I536F probably damaging Het
Mptx1 A G 1: 174,160,315 (GRCm39) D207G probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Napsa A G 7: 44,222,040 (GRCm39) M1V probably null Het
Ncam1 A T 9: 49,420,999 (GRCm39) probably null Het
Nckap5 G A 1: 125,955,481 (GRCm39) P425L possibly damaging Het
Nol8 A G 13: 49,830,263 (GRCm39) S1116G probably benign Het
Nrde2 G T 12: 100,108,509 (GRCm39) Q361K probably benign Het
Nudt13 G A 14: 20,357,800 (GRCm39) G133D probably damaging Het
Ofcc1 G T 13: 40,360,286 (GRCm39) Q248K probably benign Het
Olfm4 A G 14: 80,258,787 (GRCm39) D345G probably benign Het
Or2t6 C A 14: 14,175,633 (GRCm38) G150C probably damaging Het
Or4k41 G A 2: 111,280,099 (GRCm39) V205I probably benign Het
Osbpl3 T G 6: 50,286,340 (GRCm39) K659N probably damaging Het
Pdk2 G A 11: 94,930,292 (GRCm39) T48M probably damaging Het
Phf11a A T 14: 59,524,999 (GRCm39) D68E probably benign Het
Purb A G 11: 6,425,702 (GRCm39) V62A probably damaging Het
Rabep2 A G 7: 126,037,971 (GRCm39) T248A possibly damaging Het
Rps19bp1 CCTTCTTCTTCTTCTTCTTCTT CCTTCTTCTTCTTCTTCTT 15: 80,145,250 (GRCm39) probably benign Het
Rtl1 C T 12: 109,557,805 (GRCm39) E1345K unknown Het
Sema3e G A 5: 14,280,194 (GRCm39) A358T probably damaging Het
Slc29a2 A G 19: 5,076,426 (GRCm39) I105V probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc6a5 G A 7: 49,591,573 (GRCm39) V513I probably damaging Het
Slco4a1 T A 2: 180,115,907 (GRCm39) F681Y possibly damaging Het
Sp1 A G 15: 102,339,445 (GRCm39) N775S possibly damaging Het
Sspo T A 6: 48,432,605 (GRCm39) V827D probably damaging Het
Taar7f C T 10: 23,926,321 (GRCm39) T305M possibly damaging Het
Tars2 A T 3: 95,657,728 (GRCm39) C238S probably damaging Het
Tasor2 A T 13: 3,645,517 (GRCm39) Y111N probably damaging Het
Tnks1bp1 C A 2: 84,893,178 (GRCm39) P373Q probably benign Het
Tnpo3 A G 6: 29,575,045 (GRCm39) L373P probably damaging Het
Unc45b A C 11: 82,805,898 (GRCm39) D135A possibly damaging Het
Vmn1r235 A T 17: 21,481,677 (GRCm39) M1L probably benign Het
Vmn2r66 T C 7: 84,657,149 (GRCm39) I85M probably damaging Het
Vmn2r80 T G 10: 79,004,066 (GRCm39) L93W probably benign Het
Vwf G T 6: 125,650,850 (GRCm39) probably benign Het
Ythdf3 A G 3: 16,238,086 (GRCm39) R9G probably damaging Het
Zfp229 A G 17: 21,964,017 (GRCm39) probably null Het
Zfp958 A C 8: 4,675,838 (GRCm39) probably null 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
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
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'- TACCTATCCAGTCCATAAGAGTAAAGC -3'
(R):5'- TCCAAGATGGACAGTGCCAG -3'

Sequencing Primer
(F):5'- CCAGTCCATAAGAGTAAAGCAAATAG -3'
(R):5'- CTTGGGTTGAGCCTCATGCC -3'
Posted On 2016-11-08