Incidental Mutation 'IGL01375:Fbxo15'
ID78680
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo15
Ensembl Gene ENSMUSG00000034391
Gene NameF-box protein 15
SynonymsFbx15, ecat3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01375
Quality Score
Status
Chromosome18
Chromosomal Location84934782-84981472 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84958279 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 48 (S48P)
Ref Sequence ENSEMBL: ENSMUSP00000045925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037718] [ENSMUST00000224467] [ENSMUST00000225445]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037718
AA Change: S48P

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000045925
Gene: ENSMUSG00000034391
AA Change: S48P

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: S3P

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000225445
AA Change: S3P

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
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 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024P04Rik A G 13: 98,984,142 probably benign Het
Anxa2 C T 9: 69,483,019 R68* probably null Het
Apc C T 18: 34,313,654 S1167L probably damaging Het
Aqp2 A G 15: 99,582,102 T149A possibly damaging Het
Asb8 T C 15: 98,141,309 E70G probably damaging Het
Carmil1 T C 13: 24,094,471 I172V possibly damaging Het
Cd38 A G 5: 43,903,597 M172V probably benign Het
Dyrk2 A G 10: 118,860,687 V222A probably damaging Het
Ephb6 T A 6: 41,615,911 probably benign Het
Fam208a A G 14: 27,440,163 R159G probably damaging Het
Gsdma3 T C 11: 98,629,941 probably null Het
Htr1d A G 4: 136,443,173 T238A probably benign Het
Kcnh3 G A 15: 99,226,993 W108* probably null Het
Kdsr A T 1: 106,727,694 Y272N probably benign Het
Lrp2 A G 2: 69,478,566 probably benign Het
Nup210l G A 3: 90,159,893 V747M probably damaging Het
Olfr1200 A G 2: 88,767,466 V283A probably benign Het
Olfr1512 A G 14: 52,372,408 I215T probably damaging Het
Pfn3 T A 13: 55,414,828 R113S possibly damaging Het
Pik3r4 T C 9: 105,644,604 I123T possibly damaging Het
Plec A T 15: 76,176,440 I3121N probably damaging Het
Prepl C T 17: 85,071,991 G336D possibly damaging Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Prps1l1 A G 12: 34,985,632 T249A possibly damaging Het
Rptor T A 11: 119,896,436 F1276I possibly damaging Het
Serpina3f G A 12: 104,220,476 V434I unknown Het
Slc25a12 T C 2: 71,308,050 probably benign Het
Slc4a4 T C 5: 89,179,734 C642R probably damaging Het
Slit2 C T 5: 48,281,714 probably benign Het
Tgfbr3 A G 5: 107,136,971 V604A probably benign Het
Tnfrsf1b T C 4: 145,225,416 Y126C probably damaging Het
Traf4 T C 11: 78,160,082 N416S probably benign Het
Trappc10 A G 10: 78,188,899 I1132T possibly damaging Het
Vps8 T A 16: 21,559,372 Y642* probably null Het
Wdr60 G T 12: 116,229,676 A552E possibly damaging Het
Other mutations in Fbxo15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Fbxo15 APN 18 84959100 missense probably damaging 1.00
IGL01730:Fbxo15 APN 18 84964174 missense probably benign 0.38
IGL01807:Fbxo15 APN 18 84981381 utr 3 prime probably benign
IGL02220:Fbxo15 APN 18 84964192 critical splice donor site probably null
IGL02255:Fbxo15 APN 18 84964196 splice site probably null
IGL02435:Fbxo15 APN 18 84959226 missense probably damaging 0.97
IGL02546:Fbxo15 APN 18 84962722 critical splice donor site probably null
IGL03099:Fbxo15 APN 18 84981213 missense possibly damaging 0.87
R0346:Fbxo15 UTSW 18 84960221 critical splice donor site probably null
R1606:Fbxo15 UTSW 18 84962620 missense possibly damaging 0.93
R1671:Fbxo15 UTSW 18 84959106 missense possibly damaging 0.73
R2113:Fbxo15 UTSW 18 84959105 missense probably benign 0.00
R3962:Fbxo15 UTSW 18 84959247 missense probably benign 0.02
R4064:Fbxo15 UTSW 18 84959118 missense probably damaging 0.96
R5523:Fbxo15 UTSW 18 84960069 missense probably damaging 1.00
R5931:Fbxo15 UTSW 18 84981125 missense probably damaging 0.96
R6235:Fbxo15 UTSW 18 84980904 intron probably benign
R6349:Fbxo15 UTSW 18 84964142 missense probably benign 0.01
R6607:Fbxo15 UTSW 18 84959145 missense possibly damaging 0.88
R7232:Fbxo15 UTSW 18 84962622 missense probably damaging 1.00
R7325:Fbxo15 UTSW 18 84959118 missense probably damaging 0.96
R7519:Fbxo15 UTSW 18 84964234 unclassified probably benign
R7671:Fbxo15 UTSW 18 84964153 missense probably damaging 1.00
R8094:Fbxo15 UTSW 18 84965493 missense probably benign 0.34
R8365:Fbxo15 UTSW 18 84962614 missense probably damaging 1.00
X0022:Fbxo15 UTSW 18 84960119 missense probably benign 0.00
Z1177:Fbxo15 UTSW 18 84958308 nonsense probably null
Posted On2013-11-05