Incidental Mutation 'IGL02080:Fbxw28'
ID186079
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw28
Ensembl Gene ENSMUSG00000054087
Gene NameF-box and WD-40 domain protein 28
SynonymsGm9337
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02080
Quality Score
Status
Chromosome9
Chromosomal Location109322886-109339659 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 109339573 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 17 (L17P)
Ref Sequence ENSEMBL: ENSMUSP00000143361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112039] [ENSMUST00000112040] [ENSMUST00000196351] [ENSMUST00000200156]
Predicted Effect probably damaging
Transcript: ENSMUST00000112039
AA Change: L17P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107670
Gene: ENSMUSG00000054087
AA Change: L17P

DomainStartEndE-ValueType
FBOX 5 45 3.13e-6 SMART
SCOP:d1tbga_ 127 249 4e-9 SMART
Blast:WD40 136 175 3e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000112040
AA Change: L17P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107671
Gene: ENSMUSG00000054087
AA Change: L17P

DomainStartEndE-ValueType
FBOX 5 45 3.13e-6 SMART
SCOP:d1tbga_ 127 249 4e-9 SMART
Blast:WD40 136 175 4e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000196351
AA Change: L17P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143357
Gene: ENSMUSG00000054087
AA Change: L17P

DomainStartEndE-ValueType
FBOX 5 45 2e-8 SMART
SCOP:d1aym1_ 54 102 2e-3 SMART
Blast:WD40 172 211 5e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000200156
AA Change: L17P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143361
Gene: ENSMUSG00000054087
AA Change: L17P

DomainStartEndE-ValueType
FBOX 5 45 2e-8 SMART
SCOP:d1tbga_ 127 208 2e-3 SMART
Blast:WD40 136 175 4e-6 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd33 A G 7: 43,528,850 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnajc1 A G 2: 18,316,348 probably benign Het
Dpysl2 A T 14: 66,829,945 D172E probably benign Het
Gprin3 C A 6: 59,354,191 R377M possibly damaging Het
Hectd4 T A 5: 121,366,606 probably benign Het
Kif26a G T 12: 112,157,566 A202S probably damaging Het
Lrig2 A T 3: 104,464,124 D754E probably damaging Het
Lrit2 A G 14: 37,069,074 K237E probably damaging Het
Med13 A G 11: 86,283,812 V1729A probably damaging Het
Mon2 A G 10: 123,052,190 S100P probably damaging Het
Mrnip A G 11: 50,197,675 D166G probably benign Het
Olfr1496 T C 19: 13,781,482 F288S probably damaging Het
Olfr728 A T 14: 50,140,122 N172K probably damaging Het
Pkd1l1 T A 11: 8,961,345 N311Y unknown Het
Ppara A G 15: 85,789,019 D137G possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Scube2 A G 7: 109,852,478 F156S probably damaging Het
Setd2 T G 9: 110,547,450 probably null Het
Slc24a2 A G 4: 87,227,146 C224R probably damaging Het
Snrnp48 A G 13: 38,216,490 D191G probably damaging Het
Spo11 A G 2: 172,989,395 Y266C probably damaging Het
Tmem144 G A 3: 79,822,759 probably benign Het
Tsacc A T 3: 88,295,389 probably null Het
Unc5d T C 8: 28,891,288 probably null Het
Unc79 A G 12: 103,001,975 I153M probably damaging Het
Vgll4 A G 6: 114,862,798 C178R probably damaging Het
Vmn2r90 T A 17: 17,712,858 S227T probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Fbxw28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01883:Fbxw28 APN 9 109328325 missense probably benign 0.05
IGL02313:Fbxw28 APN 9 109337352 missense possibly damaging 0.76
R0029:Fbxw28 UTSW 9 109328289 missense probably damaging 1.00
R0038:Fbxw28 UTSW 9 109338540 missense probably damaging 1.00
R0058:Fbxw28 UTSW 9 109328211 missense probably benign 0.22
R1288:Fbxw28 UTSW 9 109337293 missense probably damaging 0.97
R1898:Fbxw28 UTSW 9 109323384 missense probably benign 0.32
R2065:Fbxw28 UTSW 9 109328224 missense probably benign 0.03
R2117:Fbxw28 UTSW 9 109330917 missense probably benign 0.04
R3410:Fbxw28 UTSW 9 109338404 missense possibly damaging 0.55
R3812:Fbxw28 UTSW 9 109338530 missense possibly damaging 0.83
R4400:Fbxw28 UTSW 9 109328310 missense probably damaging 1.00
R4840:Fbxw28 UTSW 9 109339534 missense probably null 1.00
R4899:Fbxw28 UTSW 9 109330853 missense probably damaging 0.99
R5129:Fbxw28 UTSW 9 109326603 missense probably damaging 1.00
R5613:Fbxw28 UTSW 9 109338533 missense probably benign 0.02
R5777:Fbxw28 UTSW 9 109338536 missense probably damaging 0.98
R6029:Fbxw28 UTSW 9 109329425 missense probably damaging 1.00
R6235:Fbxw28 UTSW 9 109326190 missense probably damaging 1.00
R6367:Fbxw28 UTSW 9 109339531 critical splice donor site probably null
R6820:Fbxw28 UTSW 9 109338425 missense probably damaging 1.00
R6968:Fbxw28 UTSW 9 109330788 missense probably benign 0.00
R7763:Fbxw28 UTSW 9 109326633 missense probably damaging 0.96
RF024:Fbxw28 UTSW 9 109338526 nonsense probably null
Posted On2014-05-07