Incidental Mutation 'IGL01351:Fbxw14'
ID 75340
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw14
Ensembl Gene ENSMUSG00000105589
Gene Name F-box and WD-40 domain protein 14
Synonyms Fbxo12, E330009N23Rik, Fbx12
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL01351
Quality Score
Status
Chromosome 9
Chromosomal Location 109099858-109116744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109103640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 24 (D24G)
Ref Sequence ENSEMBL: ENSMUSP00000143127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112041] [ENSMUST00000198048] [ENSMUST00000198844]
AlphaFold Q8C2Y5
Predicted Effect probably benign
Transcript: ENSMUST00000066901
AA Change: D347G

PolyPhen 2 Score 0.020 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066613
Gene: ENSMUSG00000054087
AA Change: D347G

DomainStartEndE-ValueType
FBOX 5 45 3.13e-6 SMART
SCOP:d1tbga_ 114 249 4e-9 SMART
Blast:WD40 136 175 3e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000112041
AA Change: D294G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107672
Gene: ENSMUSG00000105589
AA Change: D294G

DomainStartEndE-ValueType
FBOX 5 45 3.13e-6 SMART
SCOP:d1tbga_ 114 208 2e-3 SMART
Blast:WD40 136 175 4e-6 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000198048
AA Change: D24G

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000198844
AA Change: D347G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143404
Gene: ENSMUSG00000105589
AA Change: D347G

DomainStartEndE-ValueType
FBOX 5 45 3.13e-6 SMART
SCOP:d1tbga_ 114 249 4e-9 SMART
Blast:WD40 136 175 3e-6 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,217,565 (GRCm39) S336P probably benign Het
Abca9 T C 11: 110,039,729 (GRCm39) Y428C probably damaging Het
Alpk1 T C 3: 127,466,011 (GRCm39) Q1165R probably damaging Het
Angel2 C A 1: 190,665,310 (GRCm39) N80K probably benign Het
Bmp6 T C 13: 38,653,610 (GRCm39) S226P probably damaging Het
Ccar2 T C 14: 70,383,311 (GRCm39) T229A probably benign Het
Cdh12 G A 15: 21,237,989 (GRCm39) V75M probably damaging Het
Cdh6 G T 15: 13,034,326 (GRCm39) A778E possibly damaging Het
Corin A T 5: 72,496,334 (GRCm39) C540S probably damaging Het
Cyfip1 C A 7: 55,547,991 (GRCm39) Y530* probably null Het
Dock10 T G 1: 80,570,876 (GRCm39) K327N probably damaging Het
Dpy19l3 A G 7: 35,426,840 (GRCm39) probably benign Het
E2f8 T C 7: 48,516,899 (GRCm39) T827A probably benign Het
Edem3 T C 1: 151,668,136 (GRCm39) V305A possibly damaging Het
Fam170a T C 18: 50,414,845 (GRCm39) W164R probably benign Het
Gnmt T C 17: 47,037,606 (GRCm39) D124G probably benign Het
Gpx5 T C 13: 21,471,669 (GRCm39) D178G probably damaging Het
Gsdmd T A 15: 75,736,186 (GRCm39) I105N probably damaging Het
Hps5 C T 7: 46,410,856 (GRCm39) M1113I probably damaging Het
Hyal6 T C 6: 24,734,178 (GRCm39) F37S probably damaging Het
Il17c C T 8: 123,148,862 (GRCm39) T2I probably benign Het
Lyz1 A G 10: 117,127,093 (GRCm39) C48R probably damaging Het
Or52e18 T A 7: 104,609,946 (GRCm39) probably benign Het
Pafah1b3 G A 7: 24,994,570 (GRCm39) R215C possibly damaging Het
Psmb4 A T 3: 94,793,538 (GRCm39) probably null Het
Rnf213 T C 11: 119,373,944 (GRCm39) V5009A probably benign Het
Sema6a T C 18: 47,414,369 (GRCm39) K494E possibly damaging Het
Sfmbt1 T C 14: 30,491,777 (GRCm39) V17A probably benign Het
Speg T A 1: 75,387,920 (GRCm39) probably benign Het
Spint1 A G 2: 119,076,936 (GRCm39) D340G probably damaging Het
Tasor A G 14: 27,186,258 (GRCm39) E819G probably benign Het
Tctn3 T C 19: 40,596,081 (GRCm39) I309V probably benign Het
Tex19.1 T A 11: 121,038,072 (GRCm39) D143E probably damaging Het
Tktl2 A G 8: 66,965,548 (GRCm39) I369V probably benign Het
Tm2d2 A G 8: 25,510,573 (GRCm39) probably benign Het
Traf4 C A 11: 78,056,226 (GRCm39) R14L possibly damaging Het
Zfhx4 A G 3: 5,466,196 (GRCm39) Y2118C probably damaging Het
Zmynd15 C A 11: 70,354,416 (GRCm39) N425K probably benign Het
Other mutations in Fbxw14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Fbxw14 APN 9 109,107,859 (GRCm39) missense probably damaging 1.00
IGL01654:Fbxw14 APN 9 109,115,648 (GRCm39) splice site probably benign
K3955:Fbxw14 UTSW 9 109,105,313 (GRCm39) missense possibly damaging 0.87
R0064:Fbxw14 UTSW 9 109,116,660 (GRCm39) nonsense probably null
R0133:Fbxw14 UTSW 9 109,103,647 (GRCm39) missense probably benign 0.02
R0975:Fbxw14 UTSW 9 109,100,307 (GRCm39) missense probably benign 0.00
R1124:Fbxw14 UTSW 9 109,105,236 (GRCm39) missense possibly damaging 0.48
R1782:Fbxw14 UTSW 9 109,107,759 (GRCm39) missense possibly damaging 0.94
R2118:Fbxw14 UTSW 9 109,103,692 (GRCm39) splice site probably benign
R3881:Fbxw14 UTSW 9 109,100,262 (GRCm39) missense possibly damaging 0.95
R4641:Fbxw14 UTSW 9 109,107,750 (GRCm39) critical splice donor site probably null
R4915:Fbxw14 UTSW 9 109,103,592 (GRCm39) missense possibly damaging 0.82
R4952:Fbxw14 UTSW 9 109,105,269 (GRCm39) missense probably benign 0.01
R6137:Fbxw14 UTSW 9 109,105,290 (GRCm39) missense probably damaging 1.00
R6187:Fbxw14 UTSW 9 109,105,332 (GRCm39) missense probably damaging 1.00
R6584:Fbxw14 UTSW 9 109,115,611 (GRCm39) missense possibly damaging 0.85
R7130:Fbxw14 UTSW 9 109,100,350 (GRCm39) missense probably benign 0.02
R7845:Fbxw14 UTSW 9 109,116,671 (GRCm39) missense probably damaging 1.00
R8049:Fbxw14 UTSW 9 109,105,211 (GRCm39) missense probably damaging 0.98
R8169:Fbxw14 UTSW 9 109,106,284 (GRCm39) missense probably benign 0.05
R8815:Fbxw14 UTSW 9 109,105,305 (GRCm39) nonsense probably null
R8816:Fbxw14 UTSW 9 109,105,305 (GRCm39) nonsense probably null
R8818:Fbxw14 UTSW 9 109,116,071 (GRCm39) start gained probably benign
R8958:Fbxw14 UTSW 9 109,107,810 (GRCm39) missense probably damaging 0.99
R8960:Fbxw14 UTSW 9 109,114,367 (GRCm39) missense possibly damaging 0.74
R9093:Fbxw14 UTSW 9 109,105,250 (GRCm39) missense probably benign
R9306:Fbxw14 UTSW 9 109,100,280 (GRCm39) missense probably benign 0.12
R9455:Fbxw14 UTSW 9 109,103,567 (GRCm39) missense probably benign 0.00
R9563:Fbxw14 UTSW 9 109,106,335 (GRCm39) missense probably benign 0.00
X0067:Fbxw14 UTSW 9 109,105,269 (GRCm39) missense probably benign 0.01
Z1177:Fbxw14 UTSW 9 109,105,314 (GRCm39) missense probably benign 0.02
Posted On 2013-10-07