Incidental Mutation 'R7563:Fbxl9'
ID 585264
Institutional Source Beutler Lab
Gene Symbol Fbxl9
Ensembl Gene ENSMUSG00000041679
Gene Name F-box and leucine-rich repeat protein 9
Synonyms Lrrc29, A630024J02Rik, FBL9
MMRRC Submission 045655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R7563 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106038972-106052952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106042388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 147 (C147R)
Ref Sequence ENSEMBL: ENSMUSP00000147309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070508] [ENSMUST00000109375] [ENSMUST00000209964] [ENSMUST00000210412] [ENSMUST00000210801] [ENSMUST00000211199]
AlphaFold A0A1B0GQY9
Predicted Effect probably benign
Transcript: ENSMUST00000070508
SMART Domains Protein: ENSMUSP00000063248
Gene: ENSMUSG00000041679

DomainStartEndE-ValueType
LRR 42 67 7.15e-2 SMART
LRR 68 93 1.92e-2 SMART
LRR 94 119 1.23e0 SMART
LRR 120 145 1.56e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109375
SMART Domains Protein: ENSMUSP00000105000
Gene: ENSMUSG00000014791

DomainStartEndE-ValueType
Pfam:DUF3361 115 268 3.8e-55 PFAM
Pfam:ELMO_CED12 291 468 1.1e-42 PFAM
PH 542 665 2.17e0 SMART
low complexity region 694 706 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209964
Predicted Effect probably benign
Transcript: ENSMUST00000210412
AA Change: C147R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210801
Predicted Effect probably benign
Transcript: ENSMUST00000211199
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
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 belongs to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,184,464 (GRCm39) I98T probably damaging Het
Ahnak T C 19: 8,988,529 (GRCm39) I3271T probably damaging Het
Aox1 G A 1: 58,086,304 (GRCm39) V70I probably benign Het
Ap1g2 A G 14: 55,337,206 (GRCm39) S710P probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Cacna1e T C 1: 154,347,162 (GRCm39) K1064E probably benign Het
Capn11 T A 17: 45,944,891 (GRCm39) I459F probably damaging Het
Ccnc A G 4: 21,732,220 (GRCm39) I48V probably damaging Het
Ces1d T A 8: 93,904,667 (GRCm39) I358F probably benign Het
Clgn A T 8: 84,147,185 (GRCm39) N379I probably damaging Het
Cym T C 3: 107,121,548 (GRCm39) Y248C probably damaging Het
Epha8 T C 4: 136,666,100 (GRCm39) D352G possibly damaging Het
Eya2 T C 2: 165,558,050 (GRCm39) probably null Het
Fam219a A C 4: 41,569,208 (GRCm39) V10G probably benign Het
Fbxl5 C T 5: 43,978,891 (GRCm39) V20I probably benign Het
Fscb T C 12: 64,520,059 (GRCm39) E469G possibly damaging Het
Glt8d2 A T 10: 82,496,659 (GRCm39) probably null Het
Grep1 A T 17: 23,936,302 (GRCm39) F8L probably benign Het
Helt T C 8: 46,746,630 (GRCm39) probably benign Het
Igkv8-27 G T 6: 70,148,887 (GRCm39) T89K probably benign Het
Ipo5 T A 14: 121,183,567 (GRCm39) H1048Q probably benign Het
Kalrn T C 16: 34,212,464 (GRCm39) D28G probably damaging Het
Kcnh4 G A 11: 100,632,680 (GRCm39) P936S probably benign Het
Klrd1 A G 6: 129,570,701 (GRCm39) I37M possibly damaging Het
Kmt2e T C 5: 23,705,271 (GRCm39) V1267A probably damaging Het
Marchf1 A T 8: 66,920,965 (GRCm39) Q214L probably damaging Het
Mlip G T 9: 77,020,279 (GRCm39) H52N probably damaging Het
Oas1e T C 5: 120,927,021 (GRCm39) R229G probably benign Het
Ogfr T A 2: 180,234,300 (GRCm39) probably null Het
Or4g16 T C 2: 111,137,134 (GRCm39) F195L probably benign Het
Or5m10 T A 2: 85,717,482 (GRCm39) Y113N probably damaging Het
Pde4d T C 13: 110,087,541 (GRCm39) I636T probably benign Het
Pex5l C T 3: 33,008,625 (GRCm39) V426I probably damaging Het
Pmfbp1 A G 8: 110,252,006 (GRCm39) K384E possibly damaging Het
Pramel22 A T 4: 143,380,675 (GRCm39) Y449* probably null Het
Prl6a1 T G 13: 27,498,221 (GRCm39) probably null Het
Prss23 A T 7: 89,159,038 (GRCm39) W344R probably damaging Het
Ptar1 T A 19: 23,697,680 (GRCm39) D397E probably benign Het
Qrsl1 G A 10: 43,752,513 (GRCm39) R437C probably damaging Het
Rab6a G T 7: 100,257,404 (GRCm39) probably benign Het
Samd14 C A 11: 94,912,239 (GRCm39) S205R probably benign Het
Sel1l3 T C 5: 53,343,326 (GRCm39) Y322C probably damaging Het
Slc30a5 A T 13: 100,940,480 (GRCm39) L669I probably benign Het
Ssc4d A G 5: 135,991,887 (GRCm39) L419P probably damaging Het
Tbc1d2b A T 9: 90,101,063 (GRCm39) Y642* probably null Het
Tbc1d2b A C 9: 90,108,301 (GRCm39) F417V probably benign Het
Top2a T C 11: 98,907,005 (GRCm39) D212G probably damaging Het
Trim39 A T 17: 36,571,807 (GRCm39) V317E probably damaging Het
Uncx G A 5: 139,530,261 (GRCm39) R113H probably damaging Het
Usp4 A G 9: 108,256,543 (GRCm39) S655G probably benign Het
Vmn2r114 C T 17: 23,510,000 (GRCm39) V827I probably benign Het
Vmn2r28 T A 7: 5,491,200 (GRCm39) N349I probably benign Het
Vmn2r3 A G 3: 64,182,770 (GRCm39) W310R possibly damaging Het
Xirp2 T C 2: 67,340,245 (GRCm39) W829R probably damaging Het
Zfp574 C A 7: 24,780,777 (GRCm39) H600N possibly damaging Het
Other mutations in Fbxl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0521:Fbxl9 UTSW 8 106,039,425 (GRCm39) missense probably damaging 1.00
R1753:Fbxl9 UTSW 8 106,039,824 (GRCm39) missense probably damaging 0.99
R1901:Fbxl9 UTSW 8 106,039,707 (GRCm39) missense probably damaging 0.98
R2437:Fbxl9 UTSW 8 106,039,675 (GRCm39) critical splice donor site probably null
R5117:Fbxl9 UTSW 8 106,039,492 (GRCm39) nonsense probably null
R6159:Fbxl9 UTSW 8 106,049,925 (GRCm39) missense probably damaging 1.00
R7311:Fbxl9 UTSW 8 106,042,299 (GRCm39) utr 3 prime probably benign
R7326:Fbxl9 UTSW 8 106,039,530 (GRCm39) missense probably damaging 1.00
R7682:Fbxl9 UTSW 8 106,041,916 (GRCm39) missense possibly damaging 0.73
R7884:Fbxl9 UTSW 8 106,042,165 (GRCm39) missense probably benign 0.20
R7892:Fbxl9 UTSW 8 106,042,165 (GRCm39) missense possibly damaging 0.93
R8274:Fbxl9 UTSW 8 106,042,166 (GRCm39) missense probably benign 0.37
R9402:Fbxl9 UTSW 8 106,049,988 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CTCGCTCCTTGATGAACTTCAG -3'
(R):5'- TGCTTACCACTTAGGCCCAC -3'

Sequencing Primer
(F):5'- ACTTCAGCAAGTTGTGGAAGG -3'
(R):5'- ACACCTGGAAAGCTTGTGC -3'
Posted On 2019-10-17