Incidental Mutation 'R3703:Fbxl7'
ID 258630
Institutional Source Beutler Lab
Gene Symbol Fbxl7
Ensembl Gene ENSMUSG00000043556
Gene Name F-box and leucine-rich repeat protein 7
Synonyms FBL7, Fbl6, D230018M15Rik
MMRRC Submission 040696-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3703 (G1)
Quality Score 222
Status Validated
Chromosome 15
Chromosomal Location 26540540-26895650 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 26543841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 269 (G269C)
Ref Sequence ENSEMBL: ENSMUSP00000061305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059204]
AlphaFold Q5BJ29
Predicted Effect probably damaging
Transcript: ENSMUST00000059204
AA Change: G269C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061305
Gene: ENSMUSG00000043556
AA Change: G269C

DomainStartEndE-ValueType
low complexity region 16 26 N/A INTRINSIC
low complexity region 73 79 N/A INTRINSIC
FBOX 117 157 2.7e-11 SMART
LRR_CC 185 210 2e-7 SMART
LRR_CC 211 236 2.1e-7 SMART
LRR 237 262 6.3e-7 SMART
LRR 271 296 3.5e-1 SMART
LRR_CC 297 322 1.7e-8 SMART
LRR_CC 323 348 5.5e-8 SMART
LRR_CC 349 374 6.5e-8 SMART
LRR_CC 375 400 9.1e-10 SMART
LRR_CC 401 426 2.1e-8 SMART
LRR_CC 427 452 1.8e-7 SMART
Blast:LRR 453 477 2e-7 BLAST
Meta Mutation Damage Score 0.3308 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 100% (50/50)
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 a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 C T 8: 77,985,685 (GRCm39) probably null Het
Asap3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGAGGAGGA 4: 135,968,552 (GRCm39) probably benign Het
Bcap29 T C 12: 31,667,151 (GRCm39) H170R probably benign Het
Bltp1 T A 3: 37,041,730 (GRCm39) C2703S probably damaging Het
Brf1 T C 12: 112,932,991 (GRCm39) probably null Het
Btnl7-ps T A 17: 34,752,941 (GRCm39) noncoding transcript Het
Cdh12 C A 15: 21,583,912 (GRCm39) T584K probably damaging Het
Col13a1 A G 10: 61,703,608 (GRCm39) probably null Het
Col25a1 A G 3: 130,343,682 (GRCm39) probably null Het
Csrp2 G A 10: 110,773,735 (GRCm39) probably benign Het
Ctla2a T A 13: 61,083,821 (GRCm39) D37V probably damaging Het
Cubn T A 2: 13,355,754 (GRCm39) H1826L probably damaging Het
Dnajc19 A G 3: 34,134,378 (GRCm39) probably null Het
Dxo T C 17: 35,057,745 (GRCm39) probably benign Het
Edil3 A T 13: 89,325,417 (GRCm39) M269L probably benign Het
Gpnmb T A 6: 49,028,799 (GRCm39) I439N possibly damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Gtpbp3 T G 8: 71,944,779 (GRCm39) S345A probably benign Het
Hnrnpul2 A G 19: 8,801,773 (GRCm39) E327G probably damaging Het
Ifi207 A T 1: 173,555,029 (GRCm39) Y884* probably null Het
Ifi47 T C 11: 48,986,352 (GRCm39) S40P probably benign Het
Kcnq3 A G 15: 65,893,588 (GRCm39) probably null Het
Kifc3 G A 8: 95,830,656 (GRCm39) probably benign Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Mug1 C T 6: 121,865,515 (GRCm39) probably benign Het
Myh2 A G 11: 67,080,427 (GRCm39) I1214V probably benign Het
Naa30 A G 14: 49,425,059 (GRCm39) N337S probably benign Het
Nap1l3 A T X: 121,305,221 (GRCm39) I499N possibly damaging Het
Nfat5 T A 8: 108,078,053 (GRCm39) probably benign Het
Nisch A G 14: 30,898,702 (GRCm39) probably benign Het
Nt5c3 A G 6: 56,860,652 (GRCm39) probably benign Het
Pklr C T 3: 89,050,008 (GRCm39) R328C probably damaging Het
Prrc2c G A 1: 162,538,260 (GRCm39) R457C probably damaging Het
Rab1a T G 11: 20,174,506 (GRCm39) probably benign Het
Rasa3 A T 8: 13,638,972 (GRCm39) D278E probably benign Het
Rdh8 C T 9: 20,734,629 (GRCm39) P99S probably damaging Het
Snx9 T A 17: 5,978,475 (GRCm39) probably null Het
Spns3 C T 11: 72,390,356 (GRCm39) probably benign Het
Sympk A G 7: 18,774,486 (GRCm39) Y421C probably damaging Het
Tas1r2 G A 4: 139,394,729 (GRCm39) C495Y probably damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Tmprss15 T C 16: 78,851,030 (GRCm39) probably null Het
Tox3 G T 8: 90,975,533 (GRCm39) T366K possibly damaging Het
Trdmt1 T A 2: 13,526,108 (GRCm39) Q170L probably benign Het
Ttn A T 2: 76,565,752 (GRCm39) V28200D probably damaging Het
Zfp616 G A 11: 73,974,145 (GRCm39) W138* probably null Het
Zfr2 T G 10: 81,081,913 (GRCm39) V493G probably benign Het
Other mutations in Fbxl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01979:Fbxl7 APN 15 26,789,649 (GRCm39) missense probably damaging 0.98
R0482:Fbxl7 UTSW 15 26,543,632 (GRCm39) missense probably benign 0.06
R1734:Fbxl7 UTSW 15 26,543,735 (GRCm39) missense probably damaging 1.00
R1826:Fbxl7 UTSW 15 26,552,851 (GRCm39) missense possibly damaging 0.59
R1859:Fbxl7 UTSW 15 26,543,279 (GRCm39) missense probably damaging 1.00
R2410:Fbxl7 UTSW 15 26,895,111 (GRCm39) missense possibly damaging 0.79
R3704:Fbxl7 UTSW 15 26,543,841 (GRCm39) missense probably damaging 1.00
R4025:Fbxl7 UTSW 15 26,552,905 (GRCm39) missense probably benign 0.20
R4387:Fbxl7 UTSW 15 26,543,345 (GRCm39) missense probably damaging 1.00
R5055:Fbxl7 UTSW 15 26,553,022 (GRCm39) missense probably damaging 0.98
R5070:Fbxl7 UTSW 15 26,789,640 (GRCm39) missense probably benign 0.15
R5180:Fbxl7 UTSW 15 26,543,507 (GRCm39) missense probably damaging 1.00
R5260:Fbxl7 UTSW 15 26,543,585 (GRCm39) missense probably damaging 1.00
R5720:Fbxl7 UTSW 15 26,552,979 (GRCm39) missense probably damaging 0.98
R6256:Fbxl7 UTSW 15 26,553,088 (GRCm39) missense probably benign 0.16
R6874:Fbxl7 UTSW 15 26,553,028 (GRCm39) missense probably benign
R7143:Fbxl7 UTSW 15 26,543,244 (GRCm39) missense probably benign
R7941:Fbxl7 UTSW 15 26,543,699 (GRCm39) missense probably damaging 1.00
R8848:Fbxl7 UTSW 15 26,552,902 (GRCm39) missense probably benign
R9211:Fbxl7 UTSW 15 26,789,616 (GRCm39) missense probably damaging 0.99
R9402:Fbxl7 UTSW 15 26,552,589 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CAAAGTCACTGACAAAGCGG -3'
(R):5'- ACCGGAAGTGTTAACCCCTG -3'

Sequencing Primer
(F):5'- TGACACTCAGCTCCTTGATGGAAG -3'
(R):5'- ACCCCTGTGTTTTAGCTAGAGAGAAG -3'
Posted On 2015-01-23