Incidental Mutation 'R2371:Fbxw9'
ID 247529
Institutional Source Beutler Lab
Gene Symbol Fbxw9
Ensembl Gene ENSMUSG00000008167
Gene Name F-box and WD-40 domain protein 9
Synonyms Fbw9, 1110017H11Rik
MMRRC Submission 040351-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R2371 (G1)
Quality Score 167
Status Not validated
Chromosome 8
Chromosomal Location 85786748-85793750 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85788658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 165 (Y165H)
Ref Sequence ENSEMBL: ENSMUSP00000092845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093360] [ENSMUST00000095220] [ENSMUST00000166592]
AlphaFold F8VPX2
Predicted Effect probably benign
Transcript: ENSMUST00000093360
SMART Domains Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691

DomainStartEndE-ValueType
IBN_N 31 99 5.72e-6 SMART
low complexity region 348 369 N/A INTRINSIC
low complexity region 389 407 N/A INTRINSIC
Pfam:HEAT_EZ 408 462 1.2e-13 PFAM
Pfam:HEAT 436 466 2.8e-6 PFAM
Pfam:HEAT 665 695 6.4e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095220
AA Change: Y165H

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000092845
Gene: ENSMUSG00000008167
AA Change: Y165H

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
FBOX 82 123 7.47e-4 SMART
WD40 161 201 2.98e-1 SMART
WD40 210 252 4.55e-3 SMART
WD40 256 292 7.8e-2 SMART
WD40 296 333 1.03e0 SMART
WD40 377 415 2.57e0 SMART
Blast:WD40 419 455 8e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125109
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143763
Predicted Effect probably benign
Transcript: ENSMUST00000166592
SMART Domains Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691

DomainStartEndE-ValueType
IBN_N 31 99 5.72e-6 SMART
low complexity region 348 369 N/A INTRINSIC
low complexity region 389 407 N/A INTRINSIC
Pfam:HEAT_EZ 408 462 2.7e-15 PFAM
Pfam:HEAT 436 466 2.7e-6 PFAM
Pfam:HEAT 665 695 2.1e-5 PFAM
Meta Mutation Damage Score 0.0970 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Adamts18 T A 8: 114,431,893 (GRCm39) E1105V probably benign Het
Colec10 A G 15: 54,325,796 (GRCm39) I209V possibly damaging Het
Cttnbp2 T G 6: 18,380,603 (GRCm39) S1422R possibly damaging Het
Dcst1 C G 3: 89,265,949 (GRCm39) V179L possibly damaging Het
Fgl2 A T 5: 21,580,816 (GRCm39) Y386F probably damaging Het
Gabrb2 A G 11: 42,482,691 (GRCm39) Y183C probably damaging Het
Hlcs A G 16: 94,068,926 (GRCm39) L245P probably damaging Het
Hormad1 T A 3: 95,482,910 (GRCm39) I132K probably benign Het
Itga8 A T 2: 12,258,277 (GRCm39) D262E probably damaging Het
Jhy G A 9: 40,828,778 (GRCm39) T376I probably benign Het
Kidins220 T C 12: 25,107,323 (GRCm39) L1592P probably damaging Het
Kif3b T C 2: 153,164,743 (GRCm39) I587T possibly damaging Het
Lrrc7 A G 3: 157,866,697 (GRCm39) Y1015H probably damaging Het
Lvrn T G 18: 47,011,230 (GRCm39) probably null Het
Mapkbp1 C A 2: 119,841,261 (GRCm39) Q83K probably damaging Het
Or2g25 T C 17: 37,971,044 (GRCm39) Y60C probably damaging Het
Or5b12 A T 19: 12,897,031 (GRCm39) I214N probably benign Het
Pigc T C 1: 161,798,579 (GRCm39) V187A possibly damaging Het
Ros1 A T 10: 52,039,991 (GRCm39) H333Q possibly damaging Het
Rreb1 T C 13: 38,100,513 (GRCm39) F215L probably benign Het
Rtcb C T 10: 85,779,697 (GRCm39) M324I probably benign Het
Senp2 A G 16: 21,837,125 (GRCm39) I125V possibly damaging Het
Shroom3 A G 5: 92,928,729 (GRCm39) K95E probably damaging Het
Wrnip1 C T 13: 32,986,410 (GRCm39) P64S probably benign Het
Zbtb24 C T 10: 41,327,264 (GRCm39) A50V probably damaging Het
Other mutations in Fbxw9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00541:Fbxw9 APN 8 85,793,219 (GRCm39) missense probably damaging 0.99
IGL01108:Fbxw9 APN 8 85,792,606 (GRCm39) unclassified probably benign
IGL01633:Fbxw9 APN 8 85,791,055 (GRCm39) missense probably damaging 1.00
IGL02672:Fbxw9 APN 8 85,792,682 (GRCm39) splice site probably null
R0053:Fbxw9 UTSW 8 85,791,083 (GRCm39) missense probably damaging 1.00
R0053:Fbxw9 UTSW 8 85,791,083 (GRCm39) missense probably damaging 1.00
R0535:Fbxw9 UTSW 8 85,791,229 (GRCm39) missense probably damaging 1.00
R0961:Fbxw9 UTSW 8 85,788,658 (GRCm39) missense probably benign 0.05
R1171:Fbxw9 UTSW 8 85,792,707 (GRCm39) missense possibly damaging 0.95
R4472:Fbxw9 UTSW 8 85,786,829 (GRCm39) missense probably damaging 1.00
R4864:Fbxw9 UTSW 8 85,792,530 (GRCm39) missense probably damaging 1.00
R4865:Fbxw9 UTSW 8 85,786,785 (GRCm39) missense possibly damaging 0.62
R5236:Fbxw9 UTSW 8 85,792,974 (GRCm39) missense probably damaging 0.98
R5771:Fbxw9 UTSW 8 85,791,201 (GRCm39) splice site probably null
R6670:Fbxw9 UTSW 8 85,788,839 (GRCm39) missense possibly damaging 0.55
R6861:Fbxw9 UTSW 8 85,792,740 (GRCm39) missense probably damaging 0.99
R7354:Fbxw9 UTSW 8 85,788,825 (GRCm39) missense probably damaging 1.00
R9222:Fbxw9 UTSW 8 85,788,856 (GRCm39) missense probably damaging 0.99
R9776:Fbxw9 UTSW 8 85,792,523 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGACAAAGCCAGAGCCTGTG -3'
(R):5'- CCCACAGGTTGACATTCCGATC -3'

Sequencing Primer
(F):5'- GATCCAGGCAGCATTCTATCTAGG -3'
(R):5'- ATCCCGGGAGCCTGACAG -3'
Posted On 2014-11-11