Incidental Mutation 'R5347:Fbxl3'
ID 422699
Institutional Source Beutler Lab
Gene Symbol Fbxl3
Ensembl Gene ENSMUSG00000022124
Gene Name F-box and leucine-rich repeat protein 3
Synonyms Fbxl3a, Play68, Ovtm, Fbl3a
MMRRC Submission 042926-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # R5347 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 103317675-103337002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 103320730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 239 (V239G)
Ref Sequence ENSEMBL: ENSMUSP00000115843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022720] [ENSMUST00000132004] [ENSMUST00000145693]
AlphaFold Q8C4V4
Predicted Effect possibly damaging
Transcript: ENSMUST00000022720
AA Change: V287G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022720
Gene: ENSMUSG00000022124
AA Change: V287G

DomainStartEndE-ValueType
FBOX 39 79 5.92e-7 SMART
low complexity region 235 247 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127113
Predicted Effect probably damaging
Transcript: ENSMUST00000132004
AA Change: V239G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115843
Gene: ENSMUSG00000022124
AA Change: V239G

DomainStartEndE-ValueType
FBOX 39 79 2.46e-4 SMART
low complexity region 187 199 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000145693
AA Change: V287G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116044
Gene: ENSMUSG00000022124
AA Change: V287G

DomainStartEndE-ValueType
FBOX 39 79 5.92e-7 SMART
low complexity region 235 247 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226952
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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 several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Both heterozygous and homozygous mutant mice display a longer free running period than that of wild-type mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,782,166 (GRCm39) Y233C probably damaging Het
Agl A G 3: 116,584,814 (GRCm39) S169P probably damaging Het
Arid1b C T 17: 5,341,332 (GRCm39) Q879* probably null Het
Bbs2 A G 8: 94,819,178 (GRCm39) S64P probably damaging Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Cacna2d2 A G 9: 107,391,313 (GRCm39) T447A probably benign Het
Ccdc168 T A 1: 44,096,955 (GRCm39) Y1381F probably benign Het
Ccdc169 A T 3: 55,049,740 (GRCm39) probably benign Het
Cdan1 A G 2: 120,560,546 (GRCm39) S275P possibly damaging Het
Cdh15 A G 8: 123,588,802 (GRCm39) N292S probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cnnm1 A G 19: 43,430,301 (GRCm39) H473R probably benign Het
Cplx4 G A 18: 66,103,157 (GRCm39) probably benign Het
Crb1 C T 1: 139,265,109 (GRCm39) G103E probably damaging Het
Dnaja3 T A 16: 4,512,346 (GRCm39) V250E possibly damaging Het
Dync2h1 T G 9: 7,129,727 (GRCm39) Q1757P probably damaging Het
Edem3 A G 1: 151,683,202 (GRCm39) Q626R probably damaging Het
Eif2b1 T C 5: 124,716,862 (GRCm39) probably benign Het
Esf1 T A 2: 139,996,801 (GRCm39) K521* probably null Het
Fhip2a A G 19: 57,367,051 (GRCm39) D198G probably benign Het
Fto A G 8: 92,118,107 (GRCm39) probably benign Het
Gm5773 T C 3: 93,681,090 (GRCm39) L254P probably damaging Het
Gm5916 A T 9: 36,032,012 (GRCm39) W91R probably benign Het
Gpam A T 19: 55,077,269 (GRCm39) L174H probably damaging Het
Grk1 G A 8: 13,464,478 (GRCm39) R450Q probably damaging Het
Hc G A 2: 34,927,636 (GRCm39) A326V probably benign Het
Hectd4 T C 5: 121,442,511 (GRCm39) I1317T probably benign Het
Hlcs A G 16: 94,068,383 (GRCm39) V426A possibly damaging Het
Ighv1-23 T C 12: 114,728,376 (GRCm39) probably benign Het
Itgax G A 7: 127,740,474 (GRCm39) V754I probably benign Het
Krt24 T A 11: 99,173,556 (GRCm39) D255V probably damaging Het
Lnpk T C 2: 74,403,935 (GRCm39) probably benign Het
Loxhd1 G T 18: 77,454,237 (GRCm39) R478L probably damaging Het
Lrrc56 A G 7: 140,789,537 (GRCm39) Q518R probably benign Het
Mbl1 A T 14: 40,880,786 (GRCm39) I225F probably damaging Het
Mmp21 T C 7: 133,277,651 (GRCm39) S392G probably benign Het
Mug2 T G 6: 122,058,551 (GRCm39) F1318V probably damaging Het
Myo5c A G 9: 75,202,487 (GRCm39) N1447S probably null Het
Nbea A C 3: 55,948,297 (GRCm39) V543G probably damaging Het
Necap1 A G 6: 122,857,706 (GRCm39) I96V probably benign Het
Nr3c2 T A 8: 77,937,377 (GRCm39) M872K possibly damaging Het
Nrf1 C T 6: 30,118,967 (GRCm39) T362M probably benign Het
Or14j2 T C 17: 37,885,618 (GRCm39) E232G probably damaging Het
Pcare A G 17: 72,056,930 (GRCm39) S916P probably benign Het
Plekhm3 T C 1: 64,859,149 (GRCm39) E685G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sbk3 A T 7: 4,970,422 (GRCm39) S316T probably benign Het
Serpinb9e T C 13: 33,441,767 (GRCm39) L233P probably damaging Het
Set T A 2: 29,959,422 (GRCm39) S132T possibly damaging Het
Slc17a4 C T 13: 24,092,800 (GRCm39) E11K possibly damaging Het
Slc22a6 T A 19: 8,595,917 (GRCm39) N86K possibly damaging Het
Slco1a6 A G 6: 142,032,325 (GRCm39) L600P probably damaging Het
Sp8 A G 12: 118,812,246 (GRCm39) K34E possibly damaging Het
Spen T A 4: 141,198,796 (GRCm39) E3254V probably benign Het
Tcf12 G A 9: 71,792,525 (GRCm39) P53S probably damaging Het
Tcf3 A G 10: 80,246,045 (GRCm39) V626A probably damaging Het
Trpc4ap A G 2: 155,514,908 (GRCm39) probably null Het
Ttc3 T A 16: 94,230,479 (GRCm39) V892D probably damaging Het
Tub G T 7: 108,625,978 (GRCm39) R243L possibly damaging Het
Tubgcp5 A G 7: 55,473,433 (GRCm39) Y837C probably damaging Het
Utp25 A T 1: 192,810,687 (GRCm39) D105E probably benign Het
Wdhd1 A T 14: 47,506,181 (GRCm39) Y244* probably null Het
Xdh T A 17: 74,232,027 (GRCm39) T228S probably benign Het
Zfp418 A C 7: 7,185,534 (GRCm39) Q499P probably benign Het
Zfpm1 G A 8: 123,062,269 (GRCm39) E443K possibly damaging Het
Zfy1 T C Y: 725,950 (GRCm39) H605R possibly damaging Het
Other mutations in Fbxl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Fbxl3 APN 14 103,332,730 (GRCm39) missense probably damaging 1.00
IGL01981:Fbxl3 APN 14 103,332,900 (GRCm39) missense possibly damaging 0.79
IGL03208:Fbxl3 APN 14 103,320,376 (GRCm39) nonsense probably null
delargo UTSW 14 103,326,854 (GRCm39) missense probably damaging 1.00
PIT4403001:Fbxl3 UTSW 14 103,332,900 (GRCm39) missense possibly damaging 0.79
R0282:Fbxl3 UTSW 14 103,332,661 (GRCm39) missense probably damaging 1.00
R0462:Fbxl3 UTSW 14 103,320,322 (GRCm39) missense probably damaging 1.00
R0710:Fbxl3 UTSW 14 103,326,751 (GRCm39) missense probably damaging 1.00
R1075:Fbxl3 UTSW 14 103,332,839 (GRCm39) missense probably benign 0.00
R2263:Fbxl3 UTSW 14 103,320,648 (GRCm39) nonsense probably null
R4239:Fbxl3 UTSW 14 103,326,854 (GRCm39) missense probably damaging 1.00
R4362:Fbxl3 UTSW 14 103,329,749 (GRCm39) missense probably damaging 1.00
R4497:Fbxl3 UTSW 14 103,320,313 (GRCm39) missense probably damaging 1.00
R4585:Fbxl3 UTSW 14 103,320,526 (GRCm39) missense probably damaging 0.99
R4586:Fbxl3 UTSW 14 103,320,526 (GRCm39) missense probably damaging 0.99
R5349:Fbxl3 UTSW 14 103,333,012 (GRCm39) intron probably benign
R5885:Fbxl3 UTSW 14 103,320,667 (GRCm39) missense probably benign 0.06
R6744:Fbxl3 UTSW 14 103,320,730 (GRCm39) missense probably damaging 0.99
R8314:Fbxl3 UTSW 14 103,326,876 (GRCm39) missense probably benign 0.04
R9015:Fbxl3 UTSW 14 103,329,790 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TTTGCAACGTTCCGCAATGC -3'
(R):5'- TTACGAGAACTGGCCCTGAAC -3'

Sequencing Primer
(F):5'- TCTTCATCAAGAGGCCGC -3'
(R):5'- GGCCCTGAACTACCATTTGCTAAG -3'
Posted On 2016-08-04