Incidental Mutation 'R1124:Fbxw14'
ID 95986
Institutional Source Beutler Lab
Gene Symbol Fbxw14
Ensembl Gene ENSMUSG00000105589
Gene Name F-box and WD-40 domain protein 14
Synonyms Fbxo12, E330009N23Rik, Fbx12
MMRRC Submission 039197-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R1124 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 109099858-109116744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109105236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 310 (I310F)
Ref Sequence ENSEMBL: ENSMUSP00000143404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112041] [ENSMUST00000198048] [ENSMUST00000198844]
AlphaFold Q8C2Y5
Predicted Effect possibly damaging
Transcript: ENSMUST00000066901
AA Change: I310F

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000066613
Gene: ENSMUSG00000054087
AA Change: I310F

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 possibly damaging
Transcript: ENSMUST00000112041
AA Change: I257F

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107672
Gene: ENSMUSG00000105589
AA Change: I257F

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 probably benign
Transcript: ENSMUST00000198048
Predicted Effect possibly damaging
Transcript: ENSMUST00000198844
AA Change: I310F

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143404
Gene: ENSMUSG00000105589
AA Change: I310F

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
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 86.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik C T 14: 32,384,039 (GRCm39) R642Q possibly damaging Het
Aadacl2fm3 A G 3: 59,772,639 (GRCm39) T48A probably benign Het
Aadacl4fm1 A G 4: 144,255,194 (GRCm39) T205A probably benign Het
Aadacl4fm4 T C 4: 144,396,845 (GRCm39) S296G probably benign Het
Anxa10 C T 8: 62,514,038 (GRCm39) probably null Het
Bcl11a A T 11: 24,113,928 (GRCm39) M424L probably damaging Het
Bhlhe41 A G 6: 145,809,456 (GRCm39) S119P probably damaging Het
C2cd3 A G 7: 100,071,888 (GRCm39) D1033G probably benign Het
Ccdc174 T C 6: 91,876,561 (GRCm39) V466A probably benign Het
Dnaaf11 T A 15: 66,310,264 (GRCm39) T335S possibly damaging Het
Drd2 T C 9: 49,306,940 (GRCm39) Y9H probably damaging Het
Grm3 C T 5: 9,620,297 (GRCm39) V316I probably benign Het
Gys2 A G 6: 142,391,739 (GRCm39) Y508H probably damaging Het
Lrp1b T A 2: 40,765,063 (GRCm39) D2921V probably damaging Het
Macrod2 A G 2: 140,294,547 (GRCm39) K71R probably damaging Het
Myh7 A T 14: 55,211,327 (GRCm39) V1614E possibly damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Or8k23 T A 2: 86,186,239 (GRCm39) K162N probably damaging Het
Pirb T A 7: 3,722,731 (GRCm39) N87I probably benign Het
Pmfbp1 A G 8: 110,257,115 (GRCm39) probably null Het
Rasa4 A G 5: 136,134,510 (GRCm39) N627S probably benign Het
Spata31d1b A C 13: 59,864,468 (GRCm39) M539L probably benign Het
Tbc1d23 A T 16: 57,034,525 (GRCm39) probably null Het
Tnfrsf1b A T 4: 144,950,926 (GRCm39) L229Q probably benign Het
Trip12 A T 1: 84,714,758 (GRCm39) V443E probably damaging Het
Ush2a G T 1: 188,485,733 (GRCm39) V2948L probably damaging Het
Vmn1r204 A T 13: 22,741,209 (GRCm39) Y280F possibly damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Vmn2r93 G T 17: 18,518,710 (GRCm39) K56N probably benign Het
Xrn1 A G 9: 95,885,918 (GRCm39) I880V probably benign Het
Zfp106 C T 2: 120,365,195 (GRCm39) G404E probably benign Het
Other mutations in Fbxw14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Fbxw14 APN 9 109,107,859 (GRCm39) missense probably damaging 1.00
IGL01351:Fbxw14 APN 9 109,103,640 (GRCm39) missense possibly damaging 0.47
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
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
Predicted Primers PCR Primer
(F):5'- TGTTTGTGAGACAGCAGCCTCTATG -3'
(R):5'- TCCTGGGTGAAGAACAGATGCAAC -3'

Sequencing Primer
(F):5'- GACAGCAGCCTCTATGAAGATTTC -3'
(R):5'- GAACAGATGCAACCACTCTTGG -3'
Posted On 2014-01-05