Incidental Mutation 'R1606:Fbxo15'
ID 176518
Institutional Source Beutler Lab
Gene Symbol Fbxo15
Ensembl Gene ENSMUSG00000034391
Gene Name F-box protein 15
Synonyms ecat3, Fbx15
MMRRC Submission 039643-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1606 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 84952907-84999598 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 84980745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 195 (K195T)
Ref Sequence ENSEMBL: ENSMUSP00000152915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037718] [ENSMUST00000224467] [ENSMUST00000225015] [ENSMUST00000225445]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000037718
AA Change: K240T

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045925
Gene: ENSMUSG00000034391
AA Change: K240T

DomainStartEndE-ValueType
low complexity region 35 42 N/A INTRINSIC
FBOX 46 86 3.4e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224427
Predicted Effect possibly damaging
Transcript: ENSMUST00000224467
AA Change: K195T

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000225015
Predicted Effect possibly damaging
Transcript: ENSMUST00000225445
AA Change: K195T

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Both male and female homozygous null mice develop normally and are fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,825,091 (GRCm39) D1459G probably damaging Het
Adhfe1 G A 1: 9,623,698 (GRCm39) probably null Het
Adsl C T 15: 80,836,425 (GRCm39) Q61* probably null Het
Arhgap26 T A 18: 39,429,925 (GRCm39) C214S probably damaging Het
Armc8 A T 9: 99,419,782 (GRCm39) N9K probably damaging Het
Asxl1 A G 2: 153,242,375 (GRCm39) D975G probably damaging Het
Atp8b3 T C 10: 80,368,412 (GRCm39) E187G probably damaging Het
Bltp1 G A 3: 36,996,548 (GRCm39) D1087N probably damaging Het
Cdcp2 T C 4: 106,959,710 (GRCm39) S42P probably damaging Het
Chek1 A G 9: 36,630,820 (GRCm39) L198P probably damaging Het
Dlc1 A G 8: 37,317,406 (GRCm39) V423A probably benign Het
Dpy19l2 A G 9: 24,492,511 (GRCm39) S696P probably benign Het
Echdc3 A T 2: 6,200,438 (GRCm39) C183S possibly damaging Het
Exph5 A C 9: 53,285,595 (GRCm39) D892A probably benign Het
Fam120b T A 17: 15,622,073 (GRCm39) I17K possibly damaging Het
Fbln5 C T 12: 101,731,457 (GRCm39) D246N probably benign Het
Fzd1 C A 5: 4,807,514 (GRCm39) E23* probably null Het
Gas2l1 C A 11: 5,014,434 (GRCm39) A9S probably damaging Het
Gcc2 C T 10: 58,105,270 (GRCm39) L69F probably damaging Het
Ggt6 C T 11: 72,328,559 (GRCm39) A353V possibly damaging Het
Gphn T A 12: 78,730,657 (GRCm39) V764E probably damaging Het
Grid1 A T 14: 35,167,922 (GRCm39) Y482F probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Ifit1bl1 C T 19: 34,571,444 (GRCm39) V338M probably benign Het
Klhl14 T A 18: 21,698,589 (GRCm39) Q408L possibly damaging Het
Lacc1 T A 14: 77,267,081 (GRCm39) Q394L probably benign Het
Lcor T G 19: 41,573,513 (GRCm39) M756R probably benign Het
Lipe A G 7: 25,087,569 (GRCm39) F477L probably damaging Het
Lrig2 A G 3: 104,387,423 (GRCm39) probably null Het
Megf8 T A 7: 25,058,120 (GRCm39) H2131Q probably damaging Het
Nek1 A G 8: 61,577,310 (GRCm39) D1097G possibly damaging Het
Nhlrc3 A T 3: 53,366,078 (GRCm39) Y138* probably null Het
Nudcd2 T A 11: 40,626,834 (GRCm39) probably null Het
Numb T C 12: 83,847,784 (GRCm39) probably null Het
Or7h8 T G 9: 20,124,242 (GRCm39) L199R probably benign Het
Pacrg G A 17: 11,058,725 (GRCm39) Q11* probably null Het
Ppp1r37 A T 7: 19,268,924 (GRCm39) M192K probably damaging Het
Prmt8 T A 6: 127,666,799 (GRCm39) K392* probably null Het
Rab28 A T 5: 41,855,795 (GRCm39) W67R probably damaging Het
Rad21l C T 2: 151,496,606 (GRCm39) C365Y probably damaging Het
Rbm17 A T 2: 11,600,208 (GRCm39) F147I probably benign Het
Rbm46 A C 3: 82,771,848 (GRCm39) F256V probably damaging Het
Rcc1 A T 4: 132,062,087 (GRCm39) probably null Het
Rnf217 G T 10: 31,410,807 (GRCm39) T296N possibly damaging Het
Rnmt A G 18: 68,444,724 (GRCm39) D231G possibly damaging Het
Rph3al C T 11: 75,797,367 (GRCm39) V110I probably damaging Het
Rxfp2 T C 5: 149,983,362 (GRCm39) M289T probably benign Het
Sash1 T C 10: 8,605,721 (GRCm39) R890G probably benign Het
Sf3b2 A T 19: 5,338,026 (GRCm39) D245E probably benign Het
Skint9 A T 4: 112,246,398 (GRCm39) V238E probably benign Het
Slc26a8 T A 17: 28,857,455 (GRCm39) D896V possibly damaging Het
Slc35b4 T A 6: 34,135,323 (GRCm39) K330* probably null Het
Slco1a4 G T 6: 141,785,337 (GRCm39) H84Q probably damaging Het
Sptbn2 G T 19: 4,800,270 (GRCm39) probably null Het
St6galnac3 A T 3: 152,912,305 (GRCm39) D227E probably benign Het
Tek G A 4: 94,738,004 (GRCm39) D685N probably damaging Het
Trf G T 9: 103,102,335 (GRCm39) probably null Het
Trpm5 T A 7: 142,638,908 (GRCm39) K288* probably null Het
Ttn C T 2: 76,567,356 (GRCm39) V27846I probably damaging Het
Tyr A T 7: 87,087,179 (GRCm39) D444E probably benign Het
Ucp1 C A 8: 84,021,933 (GRCm39) A255E probably damaging Het
Ush2a A G 1: 188,491,963 (GRCm39) D3084G probably benign Het
Yeats4 T C 10: 117,053,344 (GRCm39) Y139C probably damaging Het
Zbtb6 A G 2: 37,319,130 (GRCm39) V266A probably benign Het
Zfp784 A T 7: 5,038,774 (GRCm39) N261K possibly damaging Het
Other mutations in Fbxo15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Fbxo15 APN 18 84,977,225 (GRCm39) missense probably damaging 1.00
IGL01375:Fbxo15 APN 18 84,976,404 (GRCm39) missense possibly damaging 0.64
IGL01730:Fbxo15 APN 18 84,982,299 (GRCm39) missense probably benign 0.38
IGL01807:Fbxo15 APN 18 84,999,506 (GRCm39) utr 3 prime probably benign
IGL02220:Fbxo15 APN 18 84,982,317 (GRCm39) critical splice donor site probably null
IGL02255:Fbxo15 APN 18 84,982,321 (GRCm39) splice site probably null
IGL02435:Fbxo15 APN 18 84,977,351 (GRCm39) missense probably damaging 0.97
IGL02546:Fbxo15 APN 18 84,980,847 (GRCm39) critical splice donor site probably null
IGL03099:Fbxo15 APN 18 84,999,338 (GRCm39) missense possibly damaging 0.87
R0346:Fbxo15 UTSW 18 84,978,346 (GRCm39) critical splice donor site probably null
R1671:Fbxo15 UTSW 18 84,977,231 (GRCm39) missense possibly damaging 0.73
R2113:Fbxo15 UTSW 18 84,977,230 (GRCm39) missense probably benign 0.00
R3962:Fbxo15 UTSW 18 84,977,372 (GRCm39) missense probably benign 0.02
R4064:Fbxo15 UTSW 18 84,977,243 (GRCm39) missense probably damaging 0.96
R5523:Fbxo15 UTSW 18 84,978,194 (GRCm39) missense probably damaging 1.00
R5931:Fbxo15 UTSW 18 84,999,250 (GRCm39) missense probably damaging 0.96
R6235:Fbxo15 UTSW 18 84,999,029 (GRCm39) intron probably benign
R6349:Fbxo15 UTSW 18 84,982,267 (GRCm39) missense probably benign 0.01
R6607:Fbxo15 UTSW 18 84,977,270 (GRCm39) missense possibly damaging 0.88
R7232:Fbxo15 UTSW 18 84,980,747 (GRCm39) missense probably damaging 1.00
R7325:Fbxo15 UTSW 18 84,977,243 (GRCm39) missense probably damaging 0.96
R7519:Fbxo15 UTSW 18 84,982,359 (GRCm39) unclassified probably benign
R7671:Fbxo15 UTSW 18 84,982,278 (GRCm39) missense probably damaging 1.00
R8094:Fbxo15 UTSW 18 84,983,618 (GRCm39) missense probably benign 0.34
R8365:Fbxo15 UTSW 18 84,980,739 (GRCm39) missense probably damaging 1.00
R8494:Fbxo15 UTSW 18 84,982,252 (GRCm39) missense probably damaging 1.00
R8809:Fbxo15 UTSW 18 84,978,200 (GRCm39) missense possibly damaging 0.94
R9072:Fbxo15 UTSW 18 84,983,645 (GRCm39) missense possibly damaging 0.88
R9073:Fbxo15 UTSW 18 84,983,645 (GRCm39) missense possibly damaging 0.88
R9342:Fbxo15 UTSW 18 84,983,609 (GRCm39) missense unknown
R9386:Fbxo15 UTSW 18 84,977,372 (GRCm39) missense probably benign 0.22
R9409:Fbxo15 UTSW 18 84,977,246 (GRCm39) missense possibly damaging 0.91
R9549:Fbxo15 UTSW 18 84,980,805 (GRCm39) missense possibly damaging 0.56
X0022:Fbxo15 UTSW 18 84,978,244 (GRCm39) missense probably benign 0.00
Z1177:Fbxo15 UTSW 18 84,976,433 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CATTTGCTCTCAGAGGAAGGGGAAG -3'
(R):5'- GACACAGCTACTGAACTGTTCCAGG -3'

Sequencing Primer
(F):5'- TCTCAGAGGAAGGGGAAGAAAAAC -3'
(R):5'- ACTGAACTGTTCCAGGAGTCTAC -3'
Posted On 2014-04-24