Incidental Mutation 'R3976:Fbxo16'
ID 312659
Institutional Source Beutler Lab
Gene Symbol Fbxo16
Ensembl Gene ENSMUSG00000034532
Gene Name F-box protein 16
Synonyms Fbx16
MMRRC Submission 040842-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R3976 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 65504067-65561422 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65524606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 42 (L42Q)
Ref Sequence ENSEMBL: ENSMUSP00000153094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169656] [ENSMUST00000224629] [ENSMUST00000226005]
AlphaFold Q9QZM9
Predicted Effect probably damaging
Transcript: ENSMUST00000169656
AA Change: L42Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130805
Gene: ENSMUSG00000034532
AA Change: L42Q

DomainStartEndE-ValueType
FBOX 92 132 3.43e-3 SMART
low complexity region 194 206 N/A INTRINSIC
low complexity region 323 334 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223608
Predicted Effect probably damaging
Transcript: ENSMUST00000224629
AA Change: L42Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000226005
AA Change: L42Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 98% (49/50)
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, members of which are 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 three 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 Fbx class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,039,615 (GRCm39) D466G probably benign Het
Asb4 A T 6: 5,390,771 (GRCm39) M55L probably benign Het
Atxn7l1 T C 12: 33,375,954 (GRCm39) S10P probably damaging Het
Bola3 T C 6: 83,328,249 (GRCm39) L45P probably benign Het
Cacna2d4 A G 6: 119,255,134 (GRCm39) probably null Het
Cfap54 A G 10: 92,675,333 (GRCm39) S2863P possibly damaging Het
Cyb5r3 A G 15: 83,044,330 (GRCm39) V180A possibly damaging Het
Dglucy A T 12: 100,807,648 (GRCm39) T186S probably benign Het
Eml5 A T 12: 98,768,724 (GRCm39) probably benign Het
Fam90a1a G A 8: 22,451,432 (GRCm39) D98N probably damaging Het
Fbxw16 A G 9: 109,268,697 (GRCm39) V231A probably benign Het
Fermt3 G A 19: 6,979,792 (GRCm39) A447V possibly damaging Het
Fignl2 A G 15: 100,950,467 (GRCm39) L605P unknown Het
Gcsam T G 16: 45,440,192 (GRCm39) N78K probably damaging Het
Gdf2 T A 14: 33,666,791 (GRCm39) V171D probably damaging Het
Gm28042 C T 2: 119,867,237 (GRCm39) H218Y probably benign Het
Herpud2 A G 9: 25,021,734 (GRCm39) V304A probably damaging Het
Kcnma1 C T 14: 24,053,815 (GRCm39) probably null Het
Lrp3 T C 7: 34,903,530 (GRCm39) D251G probably benign Het
Mapkbp1 T C 2: 119,852,339 (GRCm39) V957A possibly damaging Het
Mepe C T 5: 104,484,944 (GRCm39) P28L probably benign Het
Muc2 T A 7: 141,300,541 (GRCm39) probably benign Het
Nt5dc2 T C 14: 30,860,832 (GRCm39) S439P probably damaging Het
Opn4 C T 14: 34,319,066 (GRCm39) R173H probably benign Het
Or2k2 A G 4: 58,785,164 (GRCm39) L186P probably damaging Het
Or4f14 C T 2: 111,742,951 (GRCm39) G108D possibly damaging Het
Phf8-ps A T 17: 33,285,405 (GRCm39) S466T probably benign Het
Ppp1r12a T C 10: 108,089,341 (GRCm39) V660A probably benign Het
Prdm6 T C 18: 53,673,278 (GRCm39) I186T possibly damaging Het
Rab18 T A 18: 6,778,529 (GRCm39) D53E probably benign Het
Rel A G 11: 23,692,939 (GRCm39) S365P probably benign Het
Rhbg C A 3: 88,151,843 (GRCm39) G383V probably damaging Het
Rnps1-ps A T 6: 7,983,149 (GRCm39) noncoding transcript Het
Rp1l1 T A 14: 64,267,758 (GRCm39) Y1115N probably damaging Het
Runx2 T C 17: 44,920,966 (GRCm39) T339A possibly damaging Het
Ryr3 T C 2: 112,506,182 (GRCm39) E3455G possibly damaging Het
Serpina1d A T 12: 103,734,107 (GRCm39) S66T probably benign Het
Setd3 T C 12: 108,131,417 (GRCm39) K3R possibly damaging Het
Spg7 A G 8: 123,806,187 (GRCm39) D299G probably damaging Het
Sptbn5 C T 2: 119,878,742 (GRCm39) noncoding transcript Het
Srcap A G 7: 127,148,411 (GRCm39) T1859A probably benign Het
Suox A G 10: 128,506,906 (GRCm39) V374A probably damaging Het
Tesk1 C T 4: 43,445,786 (GRCm39) P280S possibly damaging Het
Tsc22d1 T C 14: 76,656,049 (GRCm39) S761P probably damaging Het
Tubal3 C T 13: 3,982,946 (GRCm39) S242L probably benign Het
Ugt2b1 C A 5: 87,065,534 (GRCm39) V502L probably benign Het
Other mutations in Fbxo16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02491:Fbxo16 APN 14 65,558,736 (GRCm39) missense probably benign 0.15
R1129:Fbxo16 UTSW 14 65,532,981 (GRCm39) missense probably benign
R1423:Fbxo16 UTSW 14 65,524,623 (GRCm39) splice site probably benign
R1776:Fbxo16 UTSW 14 65,532,835 (GRCm39) splice site probably null
R1862:Fbxo16 UTSW 14 65,508,252 (GRCm39) missense probably damaging 1.00
R2504:Fbxo16 UTSW 14 65,508,163 (GRCm39) start gained probably benign
R3431:Fbxo16 UTSW 14 65,531,233 (GRCm39) missense probably damaging 0.97
R3432:Fbxo16 UTSW 14 65,531,233 (GRCm39) missense probably damaging 0.97
R4065:Fbxo16 UTSW 14 65,508,278 (GRCm39) missense probably damaging 1.00
R4922:Fbxo16 UTSW 14 65,536,657 (GRCm39) missense probably benign
R4973:Fbxo16 UTSW 14 65,558,746 (GRCm39) missense probably benign 0.00
R6637:Fbxo16 UTSW 14 65,533,210 (GRCm39) splice site probably null
R7213:Fbxo16 UTSW 14 65,536,868 (GRCm39) splice site probably null
R7274:Fbxo16 UTSW 14 65,558,716 (GRCm39) missense probably benign 0.30
R8871:Fbxo16 UTSW 14 65,531,348 (GRCm39) missense probably damaging 1.00
R8897:Fbxo16 UTSW 14 65,531,287 (GRCm39) missense probably benign 0.11
R9209:Fbxo16 UTSW 14 65,524,594 (GRCm39) missense probably damaging 1.00
Z1088:Fbxo16 UTSW 14 65,531,309 (GRCm39) missense possibly damaging 0.92
Z1177:Fbxo16 UTSW 14 65,536,807 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CCTCATTGTAGGTCAAAAGTAAGTAAG -3'
(R):5'- GCTCCAGATTCCAAGAAACCTTTC -3'

Sequencing Primer
(F):5'- TTGCCTAGTATGCACAGAGC -3'
(R):5'- AAGATGGCTGCTCTCACCAG -3'
Posted On 2015-04-30