Incidental Mutation 'IGL02184:Fbxo36'
ID 284276
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo36
Ensembl Gene ENSMUSG00000073633
Gene Name F-box protein 36
Synonyms 2410002G19Rik, 1110020F21Rik, D1Ertd757e, 0610008D19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02184
Quality Score
Status
Chromosome 1
Chromosomal Location 84817562-84878208 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84858885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 57 (S57G)
Ref Sequence ENSEMBL: ENSMUSP00000095276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097672]
AlphaFold Q9CQ24
Predicted Effect probably benign
Transcript: ENSMUST00000097672
AA Change: S57G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000095276
Gene: ENSMUSG00000073633
AA Change: S57G

DomainStartEndE-ValueType
FBOX 97 137 1.58e-2 SMART
low complexity region 168 180 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151737
Coding Region Coverage
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 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 C T 3: 89,253,241 (GRCm39) probably benign Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Aopep T G 13: 63,215,925 (GRCm39) I399S possibly damaging Het
Atp8b3 A C 10: 80,363,067 (GRCm39) probably benign Het
Brwd1 A T 16: 95,815,029 (GRCm39) M1417K probably damaging Het
Camk2d A T 3: 126,591,422 (GRCm39) R297S probably damaging Het
Cntnap1 A T 11: 101,069,191 (GRCm39) H215L probably damaging Het
Cytip T C 2: 58,023,750 (GRCm39) S357G probably damaging Het
Eif1ad15 T C 12: 88,287,951 (GRCm39) R101G probably benign Het
Fancg A G 4: 43,006,872 (GRCm39) Y273H possibly damaging Het
Fgf8 A T 19: 45,725,655 (GRCm39) L141Q probably damaging Het
Grm5 C T 7: 87,675,650 (GRCm39) T388M probably damaging Het
Hipk1 A G 3: 103,666,066 (GRCm39) L589P possibly damaging Het
Kiz T C 2: 146,731,520 (GRCm39) S337P probably benign Het
Lrrc37a A T 11: 103,388,435 (GRCm39) I2330K unknown Het
Mdfic T A 6: 15,770,366 (GRCm39) I124K possibly damaging Het
Mdfic2 T C 6: 98,225,059 (GRCm39) S75G possibly damaging Het
Mttp A G 3: 137,821,761 (GRCm39) probably null Het
Myom1 G A 17: 71,379,132 (GRCm39) S632N possibly damaging Het
Nlrp12 T C 7: 3,289,094 (GRCm39) K473E probably damaging Het
Nrp2 C A 1: 62,758,099 (GRCm39) C28* probably null Het
Nwd2 G T 5: 63,963,020 (GRCm39) G868V probably damaging Het
Or4a73 G A 2: 89,420,637 (GRCm39) T274I probably damaging Het
Or4c58 G A 2: 89,674,729 (GRCm39) A196V probably damaging Het
Or5w1 A G 2: 87,487,136 (GRCm39) L43P probably damaging Het
Pappa A T 4: 65,258,928 (GRCm39) M1559L possibly damaging Het
Pmm2 T A 16: 8,455,668 (GRCm39) D10E possibly damaging Het
Polm T C 11: 5,780,137 (GRCm39) Q300R probably benign Het
Prrc2b T A 2: 32,111,467 (GRCm39) N1208K probably benign Het
Serpinb3c T C 1: 107,199,648 (GRCm39) D291G probably damaging Het
Skic3 A G 13: 76,259,810 (GRCm39) K37E probably damaging Het
Slc1a2 T C 2: 102,578,889 (GRCm39) F268S probably damaging Het
Slc26a4 A G 12: 31,599,948 (GRCm39) Y127H probably damaging Het
Slc29a4 A G 5: 142,703,506 (GRCm39) Y260C probably damaging Het
Sorbs3 C T 14: 70,421,455 (GRCm39) probably null Het
Spen T C 4: 141,214,917 (GRCm39) Y534C unknown Het
Tmem237 T C 1: 59,159,270 (GRCm39) probably null Het
Tnfrsf21 A T 17: 43,396,354 (GRCm39) N546I probably benign Het
Tpgs2 T A 18: 25,273,630 (GRCm39) D177V probably damaging Het
Tpx2 C T 2: 152,724,240 (GRCm39) R339* probably null Het
Trim12c T C 7: 103,997,430 (GRCm39) Y42C probably benign Het
Trip10 A T 17: 57,564,272 (GRCm39) E341V probably damaging Het
Trpm8 A T 1: 88,258,416 (GRCm39) probably null Het
Ubr1 T A 2: 120,730,989 (GRCm39) I1221F probably benign Het
Ucp2 C T 7: 100,148,529 (GRCm39) A301V probably benign Het
Zfyve1 T C 12: 83,605,467 (GRCm39) I411V probably benign Het
Other mutations in Fbxo36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02032:Fbxo36 APN 1 84,874,387 (GRCm39) splice site probably benign
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
R9045:Fbxo36 UTSW 1 84,874,300 (GRCm39) missense probably damaging 1.00
R9353:Fbxo36 UTSW 1 84,874,259 (GRCm39) missense probably benign 0.17
Posted On 2015-04-16