Incidental Mutation 'IGL02165:Fbxl2'
ID 282664
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxl2
Ensembl Gene ENSMUSG00000032507
Gene Name F-box and leucine-rich repeat protein 2
Synonyms Fbl3, 2810423A21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02165
Quality Score
Status
Chromosome 9
Chromosomal Location 113787625-113855871 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113847099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 8 (D8G)
Ref Sequence ENSEMBL: ENSMUSP00000117058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035090] [ENSMUST00000117537] [ENSMUST00000143180]
AlphaFold Q8BH16
Predicted Effect probably benign
Transcript: ENSMUST00000035090
AA Change: D8G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035090
Gene: ENSMUSG00000032507
AA Change: D8G

DomainStartEndE-ValueType
FBOX 15 55 1.18e-6 SMART
LRR 77 102 1.16e-1 SMART
LRR 103 128 5.21e-4 SMART
LRR 129 154 2.24e-3 SMART
LRR_CC 155 180 5.46e-7 SMART
LRR 181 206 7.05e-1 SMART
LRR 207 232 4.87e-4 SMART
LRR 233 258 1.5e-4 SMART
LRR 259 284 8.81e-2 SMART
LRR 285 310 2.05e-2 SMART
LRR_CC 311 336 6.37e-8 SMART
LRR 365 391 2.44e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117537
AA Change: D8G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114075
Gene: ENSMUSG00000032507
AA Change: D8G

DomainStartEndE-ValueType
FBOX 15 55 1.18e-6 SMART
LRR 77 102 1.16e-1 SMART
LRR 103 128 5.21e-4 SMART
LRR 129 154 2.24e-3 SMART
LRR_CC 155 180 5.46e-7 SMART
LRR 181 206 7.05e-1 SMART
LRR 207 232 4.87e-4 SMART
LRR 233 258 1.5e-4 SMART
LRR 259 284 8.81e-2 SMART
LRR 285 310 2.05e-2 SMART
LRR_CC 311 336 6.37e-8 SMART
LRR 365 391 2.44e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141832
Predicted Effect probably benign
Transcript: ENSMUST00000143180
AA Change: D8G

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
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 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,904,586 (GRCm39) M199K possibly damaging Het
Abo C A 2: 26,733,441 (GRCm39) V255L probably damaging Het
Alas1 A T 9: 106,115,982 (GRCm39) M344K probably damaging Het
Ap1m1 A G 8: 73,003,653 (GRCm39) I118V probably benign Het
Ap5m1 A T 14: 49,316,185 (GRCm39) I252F possibly damaging Het
Arhgef2 G A 3: 88,553,527 (GRCm39) R886H probably damaging Het
Atp13a4 T C 16: 29,252,828 (GRCm39) E706G probably damaging Het
Baz2a C A 10: 127,955,218 (GRCm39) A775E probably benign Het
C3 A T 17: 57,532,092 (GRCm39) F210I probably benign Het
Casq1 A G 1: 172,040,948 (GRCm39) L280P probably damaging Het
Cebpz A G 17: 79,229,598 (GRCm39) F919L probably damaging Het
Commd1b A T 11: 22,932,072 (GRCm39) probably benign Het
Dclre1c T A 2: 3,451,418 (GRCm39) probably benign Het
Dsc3 T G 18: 20,116,709 (GRCm39) M276L probably benign Het
Dync2i2 T C 2: 29,922,172 (GRCm39) T430A probably benign Het
Eftud2 A G 11: 102,742,573 (GRCm39) probably benign Het
Elfn2 T A 15: 78,557,618 (GRCm39) T310S probably benign Het
Ep300 A G 15: 81,525,592 (GRCm39) K1472R probably benign Het
Galnt5 T A 2: 57,888,877 (GRCm39) M159K probably benign Het
Hars2 T A 18: 36,916,447 (GRCm39) M1K probably null Het
Hk1 T C 10: 62,117,667 (GRCm39) T619A probably damaging Het
Ifi44 C T 3: 151,455,067 (GRCm39) V53M probably damaging Het
Ippk T A 13: 49,600,011 (GRCm39) V339D possibly damaging Het
Kcnma1 G T 14: 23,387,035 (GRCm39) N875K possibly damaging Het
Kdm5a T A 6: 120,392,251 (GRCm39) V991E probably damaging Het
Larp6 A G 9: 60,620,595 (GRCm39) E36G probably benign Het
Lonp2 A T 8: 87,435,654 (GRCm39) D210V probably damaging Het
Lrrc4c G A 2: 97,459,378 (GRCm39) M1I probably null Het
Mmp2 A G 8: 93,559,847 (GRCm39) K270R probably null Het
Nexmif C T X: 103,128,360 (GRCm39) V1186I probably benign Het
Or11g2 A G 14: 50,856,468 (GRCm39) Y263C probably damaging Het
Or1x2 A T 11: 50,918,470 (GRCm39) I214F probably benign Het
Pld2 T C 11: 70,446,503 (GRCm39) L763P probably damaging Het
Pold1 A T 7: 44,187,484 (GRCm39) F644L probably damaging Het
Prrc2b T C 2: 32,104,652 (GRCm39) S1377P probably damaging Het
Rps18-ps6 T G 13: 97,896,648 (GRCm39) K150T probably benign Het
Rttn A G 18: 89,061,165 (GRCm39) D1111G probably benign Het
Slc27a5 A G 7: 12,728,875 (GRCm39) V130A probably damaging Het
Slfn8 T C 11: 82,908,022 (GRCm39) R174G probably benign Het
Slitrk6 G A 14: 110,989,249 (GRCm39) P153S probably benign Het
Sorcs3 T C 19: 48,642,511 (GRCm39) I388T probably benign Het
Star A T 8: 26,302,843 (GRCm39) T262S possibly damaging Het
Strn A T 17: 78,995,049 (GRCm39) W2R probably damaging Het
Tnmd T C X: 132,763,701 (GRCm39) S172P probably damaging Het
Togaram2 A G 17: 72,004,861 (GRCm39) K305R probably benign Het
Trhde C A 10: 114,428,066 (GRCm39) W410L probably damaging Het
Trim5 C T 7: 103,928,566 (GRCm39) R125Q probably damaging Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Vmn1r80 T A 7: 11,927,379 (GRCm39) M163K probably benign Het
Wnk4 C A 11: 101,166,117 (GRCm39) probably benign Het
Zfp277 T A 12: 40,365,802 (GRCm39) I430F possibly damaging Het
Zfp566 A T 7: 29,777,255 (GRCm39) C309S probably damaging Het
Zfp740 T G 15: 102,121,109 (GRCm39) F141V possibly damaging Het
Zfp87 T A 13: 67,665,989 (GRCm39) I158F probably damaging Het
Zswim3 C A 2: 164,663,035 (GRCm39) A505D possibly damaging Het
Other mutations in Fbxl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Fbxl2 APN 9 113,813,047 (GRCm39) splice site probably benign
IGL02535:Fbxl2 APN 9 113,808,575 (GRCm39) missense probably benign 0.25
R0145:Fbxl2 UTSW 9 113,814,393 (GRCm39) missense probably damaging 1.00
R1668:Fbxl2 UTSW 9 113,818,214 (GRCm39) missense probably benign 0.00
R1694:Fbxl2 UTSW 9 113,832,239 (GRCm39) missense probably damaging 0.99
R1964:Fbxl2 UTSW 9 113,818,237 (GRCm39) missense probably benign 0.00
R2993:Fbxl2 UTSW 9 113,818,484 (GRCm39) missense possibly damaging 0.48
R3894:Fbxl2 UTSW 9 113,832,261 (GRCm39) missense probably damaging 1.00
R4235:Fbxl2 UTSW 9 113,818,231 (GRCm39) missense probably benign 0.03
R4342:Fbxl2 UTSW 9 113,814,374 (GRCm39) missense probably benign
R5310:Fbxl2 UTSW 9 113,815,576 (GRCm39) missense possibly damaging 0.78
R5509:Fbxl2 UTSW 9 113,814,415 (GRCm39) splice site probably null
R5696:Fbxl2 UTSW 9 113,815,546 (GRCm39) missense probably damaging 1.00
R6232:Fbxl2 UTSW 9 113,815,516 (GRCm39) missense probably damaging 0.98
R6371:Fbxl2 UTSW 9 113,818,451 (GRCm39) missense probably damaging 1.00
R6803:Fbxl2 UTSW 9 113,813,617 (GRCm39) missense probably damaging 1.00
R7530:Fbxl2 UTSW 9 113,818,241 (GRCm39) missense probably benign 0.01
Z1177:Fbxl2 UTSW 9 113,818,413 (GRCm39) missense probably benign
Posted On 2015-04-16