Incidental Mutation 'R7682:Fbxl9'
ID 592826
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 045748-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R7682 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106038972-106052952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106041916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 304 (R304L)
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 possibly damaging
Transcript: ENSMUST00000210412
AA Change: R304L

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000210801
Predicted Effect probably benign
Transcript: ENSMUST00000211199
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (62/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik T A 16: 88,556,373 (GRCm39) S196T probably benign Het
Abcc5 T C 16: 20,186,803 (GRCm39) D977G probably damaging Het
Acot2 T C 12: 84,034,698 (GRCm39) V8A probably benign Het
Adamts9 T A 6: 92,857,679 (GRCm39) I870F possibly damaging Het
Adgrl3 G A 5: 81,942,407 (GRCm39) V1414I probably damaging Het
Aggf1 T C 13: 95,504,934 (GRCm39) K275R probably benign Het
Alpk1 T C 3: 127,466,195 (GRCm39) I1104V possibly damaging Het
Angptl7 A T 4: 148,582,539 (GRCm39) I119N probably damaging Het
Ank3 A T 10: 69,824,065 (GRCm39) E129D possibly damaging Het
Brca2 T A 5: 150,466,618 (GRCm39) H2127Q probably benign Het
Brd4 A G 17: 32,420,134 (GRCm39) F1008S unknown Het
Car2 T C 3: 14,953,025 (GRCm39) S56P probably damaging Het
Casp3 A G 8: 47,085,420 (GRCm39) Y41C probably benign Het
Ces4a A T 8: 105,873,297 (GRCm39) T381S probably benign Het
Clstn1 A G 4: 149,710,558 (GRCm39) T77A possibly damaging Het
Cul7 G T 17: 46,966,521 (GRCm39) V615L probably benign Het
Dnpep A G 1: 75,293,384 (GRCm39) F24L probably damaging Het
Efcab3 T A 11: 104,855,174 (GRCm39) probably null Het
Emsy G A 7: 98,239,905 (GRCm39) R1263W probably damaging Het
Fam124b A T 1: 80,191,282 (GRCm39) C34S possibly damaging Het
Fan1 C A 7: 64,022,512 (GRCm39) G247V probably benign Het
Glipr1l3 T G 10: 111,977,777 (GRCm39) H218P probably benign Het
Gm14305 T A 2: 176,412,703 (GRCm39) S198R probably benign Het
Gm14326 T C 2: 177,590,274 (GRCm39) Y29C probably damaging Het
Gm45713 C T 7: 44,783,426 (GRCm39) V147I probably benign Het
Gpr149 C T 3: 62,438,160 (GRCm39) D666N probably damaging Het
Gpr183 A G 14: 122,192,152 (GRCm39) I123T possibly damaging Het
Il7r A T 15: 9,513,013 (GRCm39) H165Q probably damaging Het
Krt73 A G 15: 101,710,480 (GRCm39) F85L probably benign Het
Lrrc8d A G 5: 105,960,657 (GRCm39) T356A probably damaging Het
Marco A G 1: 120,421,771 (GRCm39) probably null Het
Mettl14 T A 3: 123,177,253 (GRCm39) E49D possibly damaging Het
Mrap T A 16: 90,546,110 (GRCm39) probably null Het
Mrps34 C T 17: 25,114,852 (GRCm39) A152V probably benign Het
Nfasc T A 1: 132,501,511 (GRCm39) Y1163F unknown Het
Nfic T C 10: 81,256,334 (GRCm39) D110G probably damaging Het
Nip7 T C 8: 107,783,751 (GRCm39) V28A possibly damaging Het
Odam T C 5: 88,040,287 (GRCm39) F251S possibly damaging Het
Olfm5 T A 7: 103,810,979 (GRCm39) Q53L probably null Het
P2ry13 T G 3: 59,117,545 (GRCm39) M78L probably benign Het
Pacs1 T C 19: 5,202,727 (GRCm39) E385G probably damaging Het
Pip5k1b C T 19: 24,337,343 (GRCm39) G315D probably damaging Het
Pla2g4a C A 1: 149,762,022 (GRCm39) R145L probably damaging Het
Pramel26 A G 4: 143,537,290 (GRCm39) L347S probably benign Het
Rars1 T C 11: 35,719,579 (GRCm39) Q81R probably benign Het
Rassf7 A G 7: 140,797,847 (GRCm39) N296D probably damaging Het
Rcsd1 C T 1: 165,485,262 (GRCm39) A94T probably benign Het
Rgs8 T C 1: 153,566,668 (GRCm39) F73S probably damaging Het
Rilpl2 A C 5: 124,616,043 (GRCm39) Y36D probably damaging Het
Rpl10l A G 12: 66,331,004 (GRCm39) V43A probably benign Het
Sesn2 T C 4: 132,224,200 (GRCm39) I403V probably damaging Het
Slc10a4 C T 5: 73,164,453 (GRCm39) S15L unknown Het
Slc7a5 T C 8: 122,633,879 (GRCm39) Y156C probably damaging Het
Spata18 A G 5: 73,826,008 (GRCm39) H105R Het
Specc1l A G 10: 75,081,636 (GRCm39) D344G probably damaging Het
Syne1 A G 10: 5,112,461 (GRCm39) V415A probably benign Het
Thbs4 T G 13: 92,912,070 (GRCm39) D220A probably benign Het
Tmco5 T C 2: 116,716,752 (GRCm39) S152P probably benign Het
Tmem35b A T 4: 127,022,734 (GRCm39) D125V probably damaging Het
Trim17 A G 11: 58,857,634 (GRCm39) E155G possibly damaging Het
Vmn2r11 A C 5: 109,195,481 (GRCm39) V615G probably benign Het
Vmn2r88 A T 14: 51,655,906 (GRCm39) Q705L Het
Vmn2r93 A G 17: 18,525,583 (GRCm39) R414G probably benign Het
Xirp2 T C 2: 67,339,193 (GRCm39) L478P probably 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
R7563:Fbxl9 UTSW 8 106,042,388 (GRCm39) missense probably benign
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'- CTTCAGTGAAGAGCAGTAAGCC -3'
(R):5'- AGTGGTACTGGTTTGCCAC -3'

Sequencing Primer
(F):5'- CCTGAGGGAAGTCAGTGCAC -3'
(R):5'- CCGGAGGCCCTACAAGC -3'
Posted On 2019-11-12