Incidental Mutation 'IGL02255:Fbxo15'
ID286572
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 #IGL02255
Quality Score
Status
Chromosome18
Chromosomal Location84934782-84981472 bp(+) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) G to T at 84964196 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037718] [ENSMUST00000224467] [ENSMUST00000225015] [ENSMUST00000225445]
Predicted Effect probably null
Transcript: ENSMUST00000037718
SMART Domains Protein: ENSMUSP00000045925
Gene: ENSMUSG00000034391

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 probably null
Transcript: ENSMUST00000224467
Predicted Effect probably benign
Transcript: ENSMUST00000225015
Predicted Effect probably benign
Transcript: ENSMUST00000225445
AA Change: V258L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 C T 12: 84,042,025 L216F probably damaging Het
Acp7 C T 7: 28,614,723 C349Y probably damaging Het
C330027C09Rik T A 16: 49,010,813 D541E probably damaging Het
Cdc42ep5 G A 7: 4,151,400 Q130* probably null Het
Dmxl2 A G 9: 54,393,768 I2353T probably benign Het
Dnmt3a T A 12: 3,872,886 probably benign Het
Dtx3l A G 16: 35,933,336 V300A probably benign Het
Fbxw22 C A 9: 109,386,551 probably benign Het
Gli2 A T 1: 118,844,349 probably null Het
Gli3 T A 13: 15,648,719 I342N probably damaging Het
Gm5431 T A 11: 48,888,958 N657I possibly damaging Het
Mybpc1 A T 10: 88,536,428 I766N probably damaging Het
Olfr1475 T A 19: 13,479,985 Y71F probably damaging Het
Pkhd1 A T 1: 20,584,101 I244N probably damaging Het
Ret G T 6: 118,175,120 probably null Het
Rrp12 A T 19: 41,872,971 F966I probably damaging Het
Rubcn T C 16: 32,827,345 I681V probably benign Het
Selenof T C 3: 144,596,827 V121A possibly damaging Het
Srl A T 16: 4,487,558 V541D probably damaging Het
Thbs2 T C 17: 14,689,785 E184G probably benign Het
Vmn2r81 G A 10: 79,247,972 W60* probably null Het
Zfp526 A G 7: 25,225,533 M406V possibly damaging Het
Other mutations in Fbxo15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Fbxo15 APN 18 84959100 missense probably damaging 1.00
IGL01375:Fbxo15 APN 18 84958279 missense possibly damaging 0.64
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
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 On2015-04-16