Incidental Mutation 'R9045:Fbxo36'
ID 687957
Institutional Source Beutler Lab
Gene Symbol Fbxo36
Ensembl Gene ENSMUSG00000073633
Gene Name F-box protein 36
Synonyms 2410002G19Rik, 1110020F21Rik, D1Ertd757e, 0610008D19Rik
MMRRC Submission 068872-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9045 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 84817562-84878208 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84874300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 99 (D99N)
Ref Sequence ENSEMBL: ENSMUSP00000095276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097672]
AlphaFold Q9CQ24
Predicted Effect probably damaging
Transcript: ENSMUST00000097672
AA Change: D99N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095276
Gene: ENSMUSG00000073633
AA Change: D99N

DomainStartEndE-ValueType
FBOX 97 137 1.58e-2 SMART
low complexity region 168 180 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.6%
Validation Efficiency 100% (66/66)
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 FBXO36, 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]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik A C 8: 33,919,362 (GRCm39) M61L Het
9130401M01Rik G T 15: 57,892,130 (GRCm39) A223E possibly damaging Het
Adgra1 T G 7: 139,432,566 (GRCm39) L135V possibly damaging Het
Aida A G 1: 183,094,940 (GRCm39) E127G possibly damaging Het
Ankrd31 T A 13: 96,968,034 (GRCm39) L557* probably null Het
Atxn7l3 T A 11: 102,183,272 (GRCm39) T221S probably damaging Het
Bbs7 A G 3: 36,666,184 (GRCm39) S27P probably benign Het
Cela3b A T 4: 137,152,110 (GRCm39) C116S possibly damaging Het
Clstn3 A C 6: 124,408,921 (GRCm39) M909R probably damaging Het
Cnot2 T C 10: 116,322,160 (GRCm39) E523G probably benign Het
Col12a1 T A 9: 79,582,034 (GRCm39) T1406S probably benign Het
Cr2 A T 1: 194,837,680 (GRCm39) N763K possibly damaging Het
Csmd1 A G 8: 16,284,088 (GRCm39) F557L probably damaging Het
Cyth1 T C 11: 118,073,090 (GRCm39) H270R possibly damaging Het
Epg5 T C 18: 77,992,014 (GRCm39) L237P probably damaging Het
Fcgbpl1 T A 7: 27,853,856 (GRCm39) C1607S probably damaging Het
Flot2 A G 11: 77,950,023 (GRCm39) I417M probably benign Het
Fryl A G 5: 73,182,118 (GRCm39) L143P Het
Gckr A G 5: 31,457,353 (GRCm39) N122S possibly damaging Het
Gm3250 T A 10: 77,617,932 (GRCm39) T149S unknown Het
Golga3 G A 5: 110,340,963 (GRCm39) M552I probably benign Het
Grip1 T A 10: 119,871,356 (GRCm39) D694E probably damaging Het
Heatr1 T C 13: 12,428,233 (GRCm39) V790A probably benign Het
Ighv1-54 G A 12: 115,157,500 (GRCm39) T49I probably benign Het
Iglv1 A G 16: 18,904,053 (GRCm39) V22A probably benign Het
Lama1 A T 17: 68,060,838 (GRCm39) Y722F Het
Laptm5 A T 4: 130,655,955 (GRCm39) E91V Het
Lrig1 A G 6: 94,585,688 (GRCm39) probably null Het
Mcph1 T G 8: 18,682,443 (GRCm39) S527A probably benign Het
Med13l G T 5: 118,880,816 (GRCm39) V1303L probably benign Het
Mindy4 A G 6: 55,295,283 (GRCm39) D741G probably benign Het
Myo15b T A 11: 115,783,178 (GRCm39) *3034R probably null Het
Nfkbie A T 17: 45,872,959 (GRCm39) K354I probably damaging Het
Npat A G 9: 53,474,776 (GRCm39) N856S possibly damaging Het
Nr2c2ap A G 8: 70,585,808 (GRCm39) D122G probably damaging Het
Nr4a3 C A 4: 48,067,694 (GRCm39) T430K possibly damaging Het
Or12e10 C A 2: 87,640,416 (GRCm39) S84Y probably damaging Het
Or52ab4 T G 7: 102,987,903 (GRCm39) I214R probably damaging Het
Or5h25 A G 16: 58,930,365 (GRCm39) S203P probably benign Het
Otud7b A G 3: 96,059,895 (GRCm39) K397E probably benign Het
Pafah1b3 G T 7: 24,996,898 (GRCm39) probably benign Het
Pcdhgc3 G T 18: 37,940,669 (GRCm39) V357L probably damaging Het
Pde2a A G 7: 101,152,498 (GRCm39) T354A unknown Het
Pira12 A G 7: 3,897,547 (GRCm39) I516T possibly damaging Het
Rbfa T C 18: 80,236,026 (GRCm39) H241R probably damaging Het
Rhox3c C T X: 36,651,303 (GRCm39) probably benign Het
Rps6ka1 C T 4: 133,600,150 (GRCm39) probably benign Het
S1pr2 T C 9: 20,878,890 (GRCm39) T313A probably benign Het
Sbno1 A G 5: 124,543,720 (GRCm39) V273A probably benign Het
Scg3 T C 9: 75,570,522 (GRCm39) N344S probably damaging Het
Serpinb1c C G 13: 33,066,027 (GRCm39) G306A probably benign Het
Sh2d6 C T 6: 72,492,604 (GRCm39) G206D probably benign Het
Slamf9 G A 1: 172,304,938 (GRCm39) S184N probably damaging Het
Slc50a1 T C 3: 89,176,042 (GRCm39) T168A probably damaging Het
Tas2r124 G C 6: 132,732,034 (GRCm39) W114C probably damaging Het
Tgm4 C T 9: 122,877,616 (GRCm39) T206I possibly damaging Het
Tmem52 A G 4: 155,553,899 (GRCm39) probably null Het
Vmn2r102 A G 17: 19,880,841 (GRCm39) K61E probably benign Het
Vmn2r58 T C 7: 41,487,087 (GRCm39) I603V probably benign Het
Vstm2l G T 2: 157,756,795 (GRCm39) G22V unknown Het
Vwa5b1 T A 4: 138,315,990 (GRCm39) Y584F probably damaging Het
Wdfy3 A T 5: 101,995,040 (GRCm39) V3233D probably damaging Het
Wdhd1 A G 14: 47,511,409 (GRCm39) V101A probably benign Het
Zfc3h1 C A 10: 115,263,319 (GRCm39) Q1761K possibly damaging Het
Zfp180 G A 7: 23,804,315 (GRCm39) V245I probably benign Het
Zfp846 A T 9: 20,505,189 (GRCm39) I350L probably benign Het
Other mutations in Fbxo36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02032:Fbxo36 APN 1 84,874,387 (GRCm39) splice site probably benign
IGL02184:Fbxo36 APN 1 84,858,885 (GRCm39) missense probably benign 0.00
R1551:Fbxo36 UTSW 1 84,858,835 (GRCm39) missense probably damaging 1.00
R1621:Fbxo36 UTSW 1 84,817,595 (GRCm39) start codon destroyed probably null 0.99
R2005:Fbxo36 UTSW 1 84,877,790 (GRCm39) missense probably benign 0.16
R2403:Fbxo36 UTSW 1 84,877,823 (GRCm39) missense probably damaging 0.99
R2857:Fbxo36 UTSW 1 84,874,316 (GRCm39) missense probably benign 0.00
R2858:Fbxo36 UTSW 1 84,874,316 (GRCm39) missense probably benign 0.00
R4618:Fbxo36 UTSW 1 84,877,749 (GRCm39) missense probably damaging 1.00
R6207:Fbxo36 UTSW 1 84,874,251 (GRCm39) nonsense probably null
R7472:Fbxo36 UTSW 1 84,874,301 (GRCm39) missense probably damaging 1.00
R9353:Fbxo36 UTSW 1 84,874,259 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- TGTGATACTCCCTGAAGCTTG -3'
(R):5'- AGATCAGACACCCTCTTCTGGC -3'

Sequencing Primer
(F):5'- AAGCTTGTTTCTTCCTGATGATAG -3'
(R):5'- TGGCTTCCATGGGCACTACATG -3'
Posted On 2021-11-19