Incidental Mutation 'R6820:Fbxw28'
ID 537571
Institutional Source Beutler Lab
Gene Symbol Fbxw28
Ensembl Gene ENSMUSG00000054087
Gene Name F-box and WD-40 domain protein 28
Synonyms Gm9337
MMRRC Submission 044932-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R6820 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 109151954-109168727 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109167493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 88 (F88Y)
Ref Sequence ENSEMBL: ENSMUSP00000143357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112039] [ENSMUST00000112040] [ENSMUST00000196351] [ENSMUST00000200156]
AlphaFold E9Q8A4
Predicted Effect probably damaging
Transcript: ENSMUST00000112039
AA Change: F88Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107670
Gene: ENSMUSG00000054087
AA Change: F88Y

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: F88Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107671
Gene: ENSMUSG00000054087
AA Change: F88Y

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: F88Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143357
Gene: ENSMUSG00000054087
AA Change: F88Y

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: F88Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143361
Gene: ENSMUSG00000054087
AA Change: F88Y

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T A 2: 93,673,266 (GRCm39) N141Y probably null Het
Chkb A G 15: 89,312,379 (GRCm39) L46P probably damaging Het
Col9a3 G A 2: 180,248,927 (GRCm39) V260M probably damaging Het
Dna2 T C 10: 62,800,683 (GRCm39) I739T possibly damaging Het
Dnah17 T C 11: 117,959,826 (GRCm39) H2620R probably damaging Het
Dsel A G 1: 111,787,547 (GRCm39) V996A probably damaging Het
Dst T C 1: 34,250,337 (GRCm39) L1757S probably damaging Het
Exoc5 A T 14: 49,286,387 (GRCm39) probably null Het
Fam120a A T 13: 49,034,468 (GRCm39) V1048E possibly damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fbxw19 T A 9: 109,311,079 (GRCm39) T377S probably benign Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
Gtsf1 T C 15: 103,328,954 (GRCm39) T92A probably benign Het
Hoxc13 A G 15: 102,830,257 (GRCm39) Y212C probably damaging Het
Itih2 T C 2: 10,102,909 (GRCm39) I742V probably benign Het
Kat7 T C 11: 95,174,965 (GRCm39) T351A probably damaging Het
Mlh3 T C 12: 85,294,497 (GRCm39) D1233G probably damaging Het
Mroh2b A G 15: 4,982,756 (GRCm39) D1525G probably damaging Het
Nme5 T C 18: 34,704,626 (GRCm39) Y73C probably damaging Het
Nr3c2 T C 8: 77,969,086 (GRCm39) V957A probably damaging Het
Nup153 A G 13: 46,863,459 (GRCm39) S301P probably benign Het
Obscn T C 11: 58,942,019 (GRCm39) D5013G probably damaging Het
Or4f54 C T 2: 111,123,455 (GRCm39) P281S probably damaging Het
Or5p51 A G 7: 107,444,298 (GRCm39) V214A probably benign Het
Or8g51 A G 9: 38,608,771 (GRCm39) V297A possibly damaging Het
Pak1 A G 7: 97,535,586 (GRCm39) N226D probably benign Het
Pak4 A G 7: 28,262,461 (GRCm39) Y384H probably benign Het
Pkp3 T C 7: 140,659,757 (GRCm39) probably null Het
Prxl2b A T 4: 154,982,623 (GRCm39) D50E probably damaging Het
Psd G T 19: 46,309,283 (GRCm39) A558E probably damaging Het
Psmd14 C A 2: 61,607,068 (GRCm39) H172N probably benign Het
Pygb G T 2: 150,658,674 (GRCm39) W366L possibly damaging Het
Rbm39 A T 2: 156,021,146 (GRCm39) M1K probably null Het
Rnf213 T C 11: 119,339,664 (GRCm39) I3421T probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Smg6 T C 11: 74,932,790 (GRCm39) V88A probably damaging Het
Tha1 T C 11: 117,762,504 (GRCm39) E80G probably benign Het
Tie1 A G 4: 118,341,583 (GRCm39) V243A probably damaging Het
Tmem215 T C 4: 40,473,926 (GRCm39) M1T probably null Het
Tpm2 A G 4: 43,518,443 (GRCm39) Y221H probably damaging Het
Ubap1 C T 4: 41,379,854 (GRCm39) P356L probably benign Het
Wbp2nl G T 15: 82,197,996 (GRCm39) A178S possibly damaging Het
Wdr54 A T 6: 83,131,601 (GRCm39) S139T probably benign Het
Wipi2 G C 5: 142,615,555 (GRCm39) Q14H probably benign Het
Zan T C 5: 137,406,106 (GRCm39) probably benign Het
Zfp735 A G 11: 73,579,783 (GRCm39) M1V probably null Het
Other mutations in Fbxw28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01883:Fbxw28 APN 9 109,157,393 (GRCm39) missense probably benign 0.05
IGL02080:Fbxw28 APN 9 109,168,641 (GRCm39) missense probably damaging 1.00
IGL02313:Fbxw28 APN 9 109,166,420 (GRCm39) missense possibly damaging 0.76
R0029:Fbxw28 UTSW 9 109,157,357 (GRCm39) missense probably damaging 1.00
R0038:Fbxw28 UTSW 9 109,167,608 (GRCm39) missense probably damaging 1.00
R0058:Fbxw28 UTSW 9 109,157,279 (GRCm39) missense probably benign 0.22
R1288:Fbxw28 UTSW 9 109,166,361 (GRCm39) missense probably damaging 0.97
R1898:Fbxw28 UTSW 9 109,152,452 (GRCm39) missense probably benign 0.32
R2065:Fbxw28 UTSW 9 109,157,292 (GRCm39) missense probably benign 0.03
R2117:Fbxw28 UTSW 9 109,159,985 (GRCm39) missense probably benign 0.04
R3410:Fbxw28 UTSW 9 109,167,472 (GRCm39) missense possibly damaging 0.55
R3812:Fbxw28 UTSW 9 109,167,598 (GRCm39) missense possibly damaging 0.83
R4400:Fbxw28 UTSW 9 109,157,378 (GRCm39) missense probably damaging 1.00
R4840:Fbxw28 UTSW 9 109,168,602 (GRCm39) missense probably null 1.00
R4899:Fbxw28 UTSW 9 109,159,921 (GRCm39) missense probably damaging 0.99
R5129:Fbxw28 UTSW 9 109,155,671 (GRCm39) missense probably damaging 1.00
R5613:Fbxw28 UTSW 9 109,167,601 (GRCm39) missense probably benign 0.02
R5777:Fbxw28 UTSW 9 109,167,604 (GRCm39) missense probably damaging 0.98
R6029:Fbxw28 UTSW 9 109,158,493 (GRCm39) missense probably damaging 1.00
R6235:Fbxw28 UTSW 9 109,155,258 (GRCm39) missense probably damaging 1.00
R6367:Fbxw28 UTSW 9 109,168,599 (GRCm39) critical splice donor site probably null
R6968:Fbxw28 UTSW 9 109,159,856 (GRCm39) missense probably benign 0.00
R7763:Fbxw28 UTSW 9 109,155,701 (GRCm39) missense probably damaging 0.96
R8104:Fbxw28 UTSW 9 109,155,357 (GRCm39) splice site probably null
R8407:Fbxw28 UTSW 9 109,155,269 (GRCm39) missense probably benign
R8414:Fbxw28 UTSW 9 109,155,604 (GRCm39) nonsense probably null
R8721:Fbxw28 UTSW 9 109,157,382 (GRCm39) missense probably benign 0.15
R8766:Fbxw28 UTSW 9 109,155,749 (GRCm39) missense probably benign 0.15
R8955:Fbxw28 UTSW 9 109,167,857 (GRCm39) critical splice acceptor site probably null
R9609:Fbxw28 UTSW 9 109,167,515 (GRCm39) missense probably benign 0.06
RF024:Fbxw28 UTSW 9 109,167,594 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCCTTCAGGTAAAGGGAACG -3'
(R):5'- CAGCCTGATGGGTTTGCAAC -3'

Sequencing Primer
(F):5'- TGAGCAACCAGTCAGTAGATTAC -3'
(R):5'- CAACTGTGAATTGCAGGAAGTTGTG -3'
Posted On 2018-10-18