Incidental Mutation 'R7892:Fbxl9'
ID 609390
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 045944-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R7892 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 106038972-106052952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106042165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 221 (I221N)
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: I221N

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
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: 99.1%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik A G 16: 14,436,349 (GRCm39) E134G Het
Acsm4 G A 7: 119,293,889 (GRCm39) V87M possibly damaging Het
Adamts3 T C 5: 90,009,288 (GRCm39) N125S probably benign Het
Arhgef4 A G 1: 34,760,885 (GRCm39) E47G unknown Het
C1ra A G 6: 124,496,374 (GRCm39) M367V probably benign Het
Ces2b T C 8: 105,559,385 (GRCm39) W84R probably damaging Het
Clca3a1 T C 3: 144,436,579 (GRCm39) T835A probably benign Het
Cmya5 T C 13: 93,232,865 (GRCm39) E741G probably damaging Het
Cspg4b C T 13: 113,456,140 (GRCm39) R729C Het
D330020A13Rik T C 6: 120,271,819 (GRCm39) L165P unknown Het
Dtnbp1 A T 13: 45,075,765 (GRCm39) L326* probably null Het
Ecpas T C 4: 58,828,593 (GRCm39) I947V probably benign Het
Fat4 A T 3: 39,003,588 (GRCm39) probably null Het
Fuom T A 7: 139,679,492 (GRCm39) I143F unknown Het
Gm14444 A T 2: 174,858,524 (GRCm39) M33L probably damaging Het
Hmcn1 T C 1: 150,540,643 (GRCm39) T2889A probably benign Het
Kif5b G A 18: 6,212,517 (GRCm39) T769M probably benign Het
Kif9 G A 9: 110,343,682 (GRCm39) R567H not run Het
Kmt2c A T 5: 25,504,814 (GRCm39) M3498K probably benign Het
Ly6e T A 15: 74,829,700 (GRCm39) L15* probably null Het
Malt1 G A 18: 65,597,187 (GRCm39) probably null Het
Msantd5 G A 11: 51,125,613 (GRCm39) E179K possibly damaging Het
Mylk G C 16: 34,699,894 (GRCm39) S419T probably benign Het
Oacyl T C 18: 65,870,918 (GRCm39) L373P probably benign Het
Or10d1 A C 9: 39,483,845 (GRCm39) S237A possibly damaging Het
Or4b1d T C 2: 89,968,836 (GRCm39) I216V probably benign Het
Or5b116 T A 19: 13,422,662 (GRCm39) C95* probably null Het
Or5b21 C T 19: 12,839,843 (GRCm39) R235* probably null Het
Pcdh20 A T 14: 88,704,867 (GRCm39) L811* probably null Het
Pgrmc2 A T 3: 41,037,415 (GRCm39) D5E probably damaging Het
Pign A C 1: 105,585,401 (GRCm39) F49L probably benign Het
Pip5k1b T C 19: 24,337,457 (GRCm39) D277G probably benign Het
Ppm1m A G 9: 106,075,895 (GRCm39) V11A probably benign Het
Prl7a1 A T 13: 27,817,661 (GRCm39) V201E not run Het
Samhd1 A G 2: 156,958,415 (GRCm39) S269P probably damaging Het
Sik2 A G 9: 50,920,132 (GRCm39) V15A probably damaging Het
Slc4a7 G A 14: 14,773,348 (GRCm38) E773K probably benign Het
Sntg1 T C 1: 8,853,024 (GRCm39) D42G probably damaging Het
Speg A T 1: 75,403,810 (GRCm39) N2664Y probably damaging Het
Tcstv1b G T 13: 120,634,695 (GRCm39) probably benign Het
Treh A G 9: 44,596,015 (GRCm39) Y435C probably damaging Het
Trim59 A G 3: 68,945,140 (GRCm39) S67P probably benign Het
Trim68 A T 7: 102,328,004 (GRCm39) C309S unknown Het
Tubb4a G T 17: 57,387,880 (GRCm39) S382* probably null Het
Vmn2r15 A T 5: 109,434,217 (GRCm39) I829N probably damaging Het
Vmn2r68 T C 7: 84,883,722 (GRCm39) T128A probably benign Het
Vmn2r70 T A 7: 85,208,588 (GRCm39) I630L possibly damaging Het
Zc3hav1 A G 6: 38,306,156 (GRCm39) I632T probably benign Het
Zfp558 A G 9: 18,379,993 (GRCm39) S13P 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
R7563:Fbxl9 UTSW 8 106,042,388 (GRCm39) missense probably benign
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
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'- AGCAGCCACTAAGGTCTAGG -3'
(R):5'- CCGTGATCTTAACCTGGCTG -3'

Sequencing Primer
(F):5'- CCACTAAGGTCTAGGGAAGTAAGACC -3'
(R):5'- GATCTTAACCTGGCTGGCCTACG -3'
Posted On 2019-12-20