Incidental Mutation 'R9020:Fbxo17'
ID 686661
Institutional Source Beutler Lab
Gene Symbol Fbxo17
Ensembl Gene ENSMUSG00000030598
Gene Name F-box protein 17
Synonyms FBXO26, Fbg4, Fbx17
MMRRC Submission 068850-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R9020 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 28416229-28437569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28436782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 246 (N246Y)
Ref Sequence ENSEMBL: ENSMUSP00000032818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032818] [ENSMUST00000056078] [ENSMUST00000094632] [ENSMUST00000108278] [ENSMUST00000108279] [ENSMUST00000165004] [ENSMUST00000167118] [ENSMUST00000171183] [ENSMUST00000207877]
AlphaFold Q9QZM8
Predicted Effect possibly damaging
Transcript: ENSMUST00000032818
AA Change: N246Y

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032818
Gene: ENSMUSG00000030598
AA Change: N246Y

DomainStartEndE-ValueType
FBOX 21 62 7.7e-6 SMART
low complexity region 83 92 N/A INTRINSIC
FBA 101 283 7.76e-96 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000056078
SMART Domains Protein: ENSMUSP00000062066
Gene: ENSMUSG00000045948

DomainStartEndE-ValueType
Pfam:Ribosom_S12_S23 31 139 2.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094632
SMART Domains Protein: ENSMUSP00000092216
Gene: ENSMUSG00000070699

DomainStartEndE-ValueType
Pfam:Seryl_tRNA_N 58 174 3.8e-8 PFAM
Pfam:tRNA-synt_2b 284 468 5.2e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108278
AA Change: N246Y

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103913
Gene: ENSMUSG00000030598
AA Change: N246Y

DomainStartEndE-ValueType
FBOX 21 62 7.7e-6 SMART
low complexity region 83 92 N/A INTRINSIC
FBA 101 283 7.76e-96 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108279
SMART Domains Protein: ENSMUSP00000103914
Gene: ENSMUSG00000030598

DomainStartEndE-ValueType
FBOX 21 62 7.7e-6 SMART
low complexity region 83 92 N/A INTRINSIC
FBA 101 242 1.34e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165004
SMART Domains Protein: ENSMUSP00000129492
Gene: ENSMUSG00000045948

DomainStartEndE-ValueType
Pfam:Ribosom_S12_S23 23 125 3e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167118
AA Change: N246Y

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130422
Gene: ENSMUSG00000030598
AA Change: N246Y

DomainStartEndE-ValueType
FBOX 21 62 7.7e-6 SMART
low complexity region 83 92 N/A INTRINSIC
FBA 101 283 7.76e-96 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171183
SMART Domains Protein: ENSMUSP00000132443
Gene: ENSMUSG00000045948

DomainStartEndE-ValueType
Pfam:Ribosom_S12_S23 31 139 2.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207877
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (58/60)
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 the F-box motif. The F-box proteins constitute one of the four subunits of the 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 belongs to the Fbxs class and it contains an F-box domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 A G 4: 106,605,615 (GRCm39) S586P probably damaging Het
Adora3 T A 3: 105,815,141 (GRCm39) I297N probably damaging Het
Adrb3 A T 8: 27,717,947 (GRCm39) F167L probably damaging Het
Apob A G 12: 8,063,999 (GRCm39) Y3955C probably damaging Het
Atp2a1 T C 7: 126,046,135 (GRCm39) D963G probably benign Het
Btbd10 T C 7: 112,951,057 (GRCm39) N11S possibly damaging Het
Casr A G 16: 36,315,611 (GRCm39) S820P probably damaging Het
Ccdc82 C T 9: 13,281,915 (GRCm39) R447C probably damaging Het
Cfap44 T A 16: 44,257,522 (GRCm39) V1019E probably damaging Het
Cfap65 T C 1: 74,959,552 (GRCm39) E866G probably damaging Het
Chd4 T A 6: 125,084,469 (GRCm39) D713E probably damaging Het
Ctdsp1 T C 1: 74,434,676 (GRCm39) F240S possibly damaging Het
Cyp26b1 C T 6: 84,552,056 (GRCm39) V361I probably benign Het
Dmbt1 T A 7: 130,712,787 (GRCm39) I1597N possibly damaging Het
Dnajc25 C A 4: 59,003,470 (GRCm39) Y80* probably null Het
Filip1l A G 16: 57,391,058 (GRCm39) T549A probably benign Het
Gm9758 A C 5: 14,964,739 (GRCm39) N35K Het
Gtf2i T C 5: 134,275,415 (GRCm39) T707A probably benign Het
Ifnk T C 4: 35,152,573 (GRCm39) V167A probably damaging Het
Iqch T C 9: 63,432,526 (GRCm39) M290V probably benign Het
Irx1 A T 13: 72,111,548 (GRCm39) Y20* probably null Het
Jade2 T A 11: 51,708,454 (GRCm39) Q572L probably benign Het
Kcne4 T A 1: 78,795,425 (GRCm39) H24Q probably benign Het
Kcnq5 T C 1: 21,539,463 (GRCm39) probably benign Het
Kcnt2 T A 1: 140,512,049 (GRCm39) V1068E probably benign Het
Klk1b27 T A 7: 43,705,118 (GRCm39) V95D probably damaging Het
Lins1 A G 7: 66,357,961 (GRCm39) D32G probably damaging Het
Mavs A G 2: 131,088,594 (GRCm39) E466G possibly damaging Het
Mipep T A 14: 61,068,677 (GRCm39) L483* probably null Het
Muc16 G GAATGGCTTTCTT 9: 18,550,015 (GRCm39) probably benign Het
Myo1a C A 10: 127,549,992 (GRCm39) Q491K probably benign Het
Nle1 C G 11: 82,797,275 (GRCm39) E146Q probably benign Het
Nphp3 T C 9: 103,909,150 (GRCm39) Y787H probably benign Het
Pcdh15 A G 10: 74,481,443 (GRCm39) S263G probably benign Het
Pcdhb8 T G 18: 37,489,837 (GRCm39) I505S probably damaging Het
Phtf1 C G 3: 103,898,694 (GRCm39) S339* probably null Het
Pip5k1b T A 19: 24,327,585 (GRCm39) I424F probably benign Het
Plxna4 T A 6: 32,211,497 (GRCm39) T681S possibly damaging Het
Prdm1 A G 10: 44,316,036 (GRCm39) L700P probably damaging Het
Prtg C T 9: 72,799,277 (GRCm39) T769I probably damaging Het
Rasgrf2 A G 13: 92,165,146 (GRCm39) V340A possibly damaging Het
Ros1 T A 10: 52,031,023 (GRCm39) E548D probably benign Het
Rsph10b G A 5: 143,922,283 (GRCm39) R823Q probably benign Het
Scgb1b3 A G 7: 31,075,276 (GRCm39) E42G probably damaging Het
Scyl2 T C 10: 89,488,858 (GRCm39) N486D probably damaging Het
Sdr9c7 T A 10: 127,745,659 (GRCm39) I257N possibly damaging Het
Serpinb9b A T 13: 33,223,887 (GRCm39) I360F probably damaging Het
Slc15a5 T A 6: 138,032,704 (GRCm39) I217F probably benign Het
Steap2 T C 5: 5,723,480 (GRCm39) S467G probably benign Het
Sycp1 T C 3: 102,783,653 (GRCm39) K607R probably benign Het
Tek C G 4: 94,708,339 (GRCm39) P350R probably benign Het
Tet3 T C 6: 83,381,418 (GRCm39) D250G probably damaging Het
Trip11 A G 12: 101,850,770 (GRCm39) V1098A possibly damaging Het
Tsc2 G T 17: 24,845,691 (GRCm39) T209K probably damaging Het
Ttc6 A G 12: 57,752,366 (GRCm39) Y1424C probably damaging Het
Uchl3 A T 14: 101,903,986 (GRCm39) K74N probably damaging Het
Usp10 T G 8: 120,667,904 (GRCm39) S68R probably benign Het
Wwp1 T C 4: 19,650,282 (GRCm39) I295V probably benign Het
Other mutations in Fbxo17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Fbxo17 APN 7 28,434,766 (GRCm39) missense probably damaging 1.00
IGL03306:Fbxo17 APN 7 28,434,782 (GRCm39) missense probably damaging 1.00
R0141:Fbxo17 UTSW 7 28,432,916 (GRCm39) missense possibly damaging 0.59
R0144:Fbxo17 UTSW 7 28,434,765 (GRCm39) missense probably damaging 1.00
R0418:Fbxo17 UTSW 7 28,432,916 (GRCm39) missense possibly damaging 0.59
R1166:Fbxo17 UTSW 7 28,432,953 (GRCm39) missense probably damaging 1.00
R3691:Fbxo17 UTSW 7 28,436,887 (GRCm39) missense probably damaging 0.99
R4688:Fbxo17 UTSW 7 28,431,979 (GRCm39) missense probably benign
R4921:Fbxo17 UTSW 7 28,432,214 (GRCm39) missense probably benign 0.14
R5691:Fbxo17 UTSW 7 28,436,897 (GRCm39) missense probably damaging 1.00
R5712:Fbxo17 UTSW 7 28,436,897 (GRCm39) missense probably damaging 1.00
R5749:Fbxo17 UTSW 7 28,436,897 (GRCm39) missense probably damaging 1.00
R5750:Fbxo17 UTSW 7 28,436,897 (GRCm39) missense probably damaging 1.00
R8891:Fbxo17 UTSW 7 28,434,733 (GRCm39) missense possibly damaging 0.86
Z1176:Fbxo17 UTSW 7 28,432,202 (GRCm39) missense unknown
Z1186:Fbxo17 UTSW 7 28,432,169 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- TGCCTACCTCCTGGAGAATG -3'
(R):5'- GGTTTTAACACCATCCGGGAG -3'

Sequencing Primer
(F):5'- GAATGCCCACCACCCTTGTG -3'
(R):5'- TTTAACACCATCCGGGAGAAGGC -3'
Posted On 2021-11-19