Incidental Mutation 'IGL02094:Fbxw15'
ID279523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw15
Ensembl Gene ENSMUSG00000074060
Gene NameF-box and WD-40 domain protein 15
SynonymsFbxo12J
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL02094
Quality Score
Status
Chromosome9
Chromosomal Location109552602-109568262 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 109558240 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 229 (V229G)
Ref Sequence ENSEMBL: ENSMUSP00000058175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056745] [ENSMUST00000198112] [ENSMUST00000198397]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056745
AA Change: V229G

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000058175
Gene: ENSMUSG00000074060
AA Change: V229G

DomainStartEndE-ValueType
FBOX 8 45 3.25e-4 SMART
SCOP:d1flga_ 73 413 3e-7 SMART
Blast:WD40 137 176 5e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000198112
AA Change: V176G

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142894
Gene: ENSMUSG00000074060
AA Change: V176G

DomainStartEndE-ValueType
FBOX 8 45 2.1e-6 SMART
SCOP:d1tbga_ 73 196 3e-5 SMART
Blast:WD40 84 123 1e-5 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000198397
SMART Domains Protein: ENSMUSP00000143385
Gene: ENSMUSG00000074060

DomainStartEndE-ValueType
FBOX 8 45 3.25e-4 SMART
SCOP:d1tbga_ 116 240 1e-3 SMART
Blast:WD40 137 176 6e-6 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 55,871,445 N658S possibly damaging Het
Adcy10 T C 1: 165,570,620 Y1429H probably damaging Het
Aebp1 G A 11: 5,868,357 M98I probably benign Het
Arl3 T C 19: 46,558,341 D15G probably benign Het
Casp2 T A 6: 42,280,359 I414N probably damaging Het
Ceacam1 T C 7: 25,474,543 D229G probably damaging Het
Cog7 G T 7: 121,963,247 A234E probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp3a59 A T 5: 146,104,821 T392S probably benign Het
Ebf2 G A 14: 67,235,240 V36M possibly damaging Het
Got1l1 A G 8: 27,199,845 V171A probably benign Het
Itgax A G 7: 128,131,473 Y121C probably damaging Het
Kcng4 C A 8: 119,633,221 A139S probably damaging Het
Kcnj9 G T 1: 172,325,708 T283K probably damaging Het
Mgl2 T A 11: 70,137,097 I377K possibly damaging Het
Myo15 T C 11: 60,510,647 probably benign Het
Nod1 A T 6: 54,939,390 probably null Het
Nr1h5 A T 3: 102,952,196 C182* probably null Het
Nup210l G T 3: 90,180,213 probably null Het
Ptbp2 G A 3: 119,752,940 probably benign Het
Ptpn13 T G 5: 103,594,617 F2401V probably damaging Het
Rbbp6 T C 7: 122,997,262 S676P probably damaging Het
Recql4 T A 15: 76,709,517 Q131L probably benign Het
Sbno2 G A 10: 80,057,645 P1274L probably benign Het
Sec24c T C 14: 20,688,402 V341A probably damaging Het
Smc1b A T 15: 85,097,891 probably benign Het
Sptbn1 T C 11: 30,100,659 H2310R probably benign Het
Tas2r109 T A 6: 132,980,239 I243F possibly damaging Het
Trpc1 A C 9: 95,743,281 D97E probably damaging Het
Trpm2 G A 10: 77,942,996 Q379* probably null Het
Ttn A G 2: 76,818,823 probably benign Het
Vmn2r74 A T 7: 85,961,461 F8I probably benign Het
Zfp36 C T 7: 28,377,763 S240N probably benign Het
Zfp65 A G 13: 67,708,185 I325T possibly damaging Het
Other mutations in Fbxw15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02239:Fbxw15 APN 9 109559837 missense probably benign 0.01
IGL02343:Fbxw15 APN 9 109552655 utr 3 prime probably benign
IGL02748:Fbxw15 APN 9 109558210 missense possibly damaging 0.66
IGL03206:Fbxw15 APN 9 109565362 missense possibly damaging 0.90
IGL03370:Fbxw15 APN 9 109555151 missense probably benign 0.00
lagging UTSW 9 109555673 splice site probably null
R0321:Fbxw15 UTSW 9 109565385 missense probably benign 0.03
R0742:Fbxw15 UTSW 9 109555556 splice site probably null
R1141:Fbxw15 UTSW 9 109558246 missense probably damaging 0.99
R1143:Fbxw15 UTSW 9 109558246 missense probably damaging 0.99
R1276:Fbxw15 UTSW 9 109558246 missense probably damaging 0.99
R1282:Fbxw15 UTSW 9 109558246 missense probably damaging 0.99
R1283:Fbxw15 UTSW 9 109558246 missense probably damaging 0.99
R1321:Fbxw15 UTSW 9 109558246 missense probably damaging 0.99
R1324:Fbxw15 UTSW 9 109558246 missense probably damaging 0.99
R1341:Fbxw15 UTSW 9 109558246 missense probably damaging 0.99
R1716:Fbxw15 UTSW 9 109557136 missense probably benign 0.00
R1750:Fbxw15 UTSW 9 109558246 missense probably damaging 0.99
R1757:Fbxw15 UTSW 9 109557279 missense probably damaging 0.99
R1765:Fbxw15 UTSW 9 109558246 missense probably damaging 0.99
R1799:Fbxw15 UTSW 9 109558246 missense probably damaging 0.99
R1826:Fbxw15 UTSW 9 109559714 splice site probably null
R1897:Fbxw15 UTSW 9 109558203 nonsense probably null
R2237:Fbxw15 UTSW 9 109555235 missense probably damaging 0.99
R2346:Fbxw15 UTSW 9 109565432 missense probably damaging 1.00
R4391:Fbxw15 UTSW 9 109568232 start gained probably benign
R4392:Fbxw15 UTSW 9 109568232 start gained probably benign
R4812:Fbxw15 UTSW 9 109559922 missense probably benign 0.01
R5198:Fbxw15 UTSW 9 109558174 missense probably benign 0.00
R5278:Fbxw15 UTSW 9 109555684 missense probably benign 0.03
R5541:Fbxw15 UTSW 9 109565430 missense probably benign 0.23
R5899:Fbxw15 UTSW 9 109555673 splice site probably null
R5975:Fbxw15 UTSW 9 109555252 missense probably damaging 1.00
R6065:Fbxw15 UTSW 9 109568178 missense probably damaging 1.00
R6285:Fbxw15 UTSW 9 109557166 missense probably benign 0.09
R7357:Fbxw15 UTSW 9 109558240 missense probably benign 0.28
R7781:Fbxw15 UTSW 9 109557262 missense possibly damaging 0.71
R8145:Fbxw15 UTSW 9 109555590 missense probably benign 0.01
R8182:Fbxw15 UTSW 9 109555710 missense probably benign 0.00
R8272:Fbxw15 UTSW 9 109559760 missense probably benign 0.18
X0026:Fbxw15 UTSW 9 109558187 missense probably damaging 0.99
Posted On2015-04-16