Incidental Mutation 'R9306:Fbxw14'
ID 705222
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R9306 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 109099858-109116744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109100280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 458 (M458K)
Ref Sequence ENSEMBL: ENSMUSP00000143404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112041] [ENSMUST00000198048] [ENSMUST00000198844]
AlphaFold Q8C2Y5
Predicted Effect probably benign
Transcript: ENSMUST00000112041
AA Change: M405K

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107672
Gene: ENSMUSG00000105589
AA Change: M405K

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 probably benign
Transcript: ENSMUST00000198844
AA Change: M458K

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143404
Gene: ENSMUSG00000105589
AA Change: M458K

DomainStartEndE-ValueType
FBOX 5 45 3.13e-6 SMART
SCOP:d1tbga_ 114 249 4e-9 SMART
Blast:WD40 136 175 3e-6 BLAST
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adam18 G A 8: 25,136,420 (GRCm39) S367L possibly damaging Het
Alox12b A T 11: 69,060,396 (GRCm39) I651F possibly damaging Het
Arfgef2 A G 2: 166,723,188 (GRCm39) K1543E probably benign Het
Arhgap24 A G 5: 102,994,008 (GRCm39) I30V possibly damaging Het
Atad2 A T 15: 57,959,994 (GRCm39) Y1343* probably null Het
Clca3a1 A G 3: 144,730,339 (GRCm39) Y169H probably damaging Het
Cspg4b A G 13: 113,506,010 (GRCm39) T2380A unknown Het
Eno1b G A 18: 48,180,922 (GRCm39) V367I probably benign Het
Fbh1 T C 2: 11,772,387 (GRCm39) E98G probably benign Het
Galnt13 A T 2: 54,823,569 (GRCm39) I382F probably benign Het
Hoxa10 T C 6: 52,209,635 (GRCm39) T368A possibly damaging Het
Ism2 C T 12: 87,333,826 (GRCm39) C73Y probably benign Het
Kif15 T C 9: 122,807,056 (GRCm39) V264A probably damaging Het
Lars1 T C 18: 42,358,884 (GRCm39) probably null Het
Lmtk2 T A 5: 144,119,599 (GRCm39) H1353Q probably benign Het
Lrp1b A T 2: 40,518,762 (GRCm39) C157S possibly damaging Het
Map3k7cl A G 16: 87,391,149 (GRCm39) D91G possibly damaging Het
Mapk8ip1 A T 2: 92,219,428 (GRCm39) D134E probably benign Het
Meaf6 A T 4: 124,996,766 (GRCm39) T159S unknown Het
Moxd1 A G 10: 24,128,824 (GRCm39) probably benign Het
Mup8 T A 4: 60,219,682 (GRCm39) E195V possibly damaging Het
Nox4 A T 7: 86,896,781 (GRCm39) Q48L probably benign Het
Or1j19 T A 2: 36,677,407 (GRCm39) I290N probably damaging Het
Or52d3 T A 7: 104,229,128 (GRCm39) W92R probably damaging Het
Or6c219 G A 10: 129,781,289 (GRCm39) S99F probably damaging Het
Otop3 G T 11: 115,237,248 (GRCm39) V571L probably benign Het
Oxr1 A G 15: 41,686,861 (GRCm39) H581R possibly damaging Het
Pappa2 A T 1: 158,764,492 (GRCm39) F340I probably damaging Het
Pcdh10 G A 3: 45,335,804 (GRCm39) G706D probably benign Het
Pdia5 A T 16: 35,250,353 (GRCm39) V202D probably damaging Het
Pdpn G A 4: 143,000,601 (GRCm39) T77M probably damaging Het
Phf11 T A 14: 59,482,294 (GRCm39) D153V probably damaging Het
Pira1 T A 7: 3,740,360 (GRCm39) Q287L probably benign Het
Ptprq T C 10: 107,422,599 (GRCm39) T1598A probably benign Het
Slc27a6 C T 18: 58,742,953 (GRCm39) T547I possibly damaging Het
Smoc1 G A 12: 81,214,430 (GRCm39) V282I possibly damaging Het
Sppl3 C A 5: 115,212,922 (GRCm39) N50K probably benign Het
Taar5 T C 10: 23,846,781 (GRCm39) S60P possibly damaging Het
Tgtp2 G T 11: 48,949,865 (GRCm39) Q236K probably benign Het
Timd5 A C 11: 46,419,519 (GRCm39) M112L probably benign Het
Vmn1r8 T A 6: 57,013,713 (GRCm39) W255R probably benign Het
Vmn2r11 C T 5: 109,196,831 (GRCm39) C547Y probably damaging Het
Vmn2r96 A G 17: 18,803,226 (GRCm39) T187A probably benign Het
Vwa1 G A 4: 155,855,328 (GRCm39) P262S 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
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
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'- CCTGCTCATCTGAGTCAACC -3'
(R):5'- TTTAAACAGATTCAGGACTGTGATG -3'

Sequencing Primer
(F):5'- CAGGCTGGTCTCAGAATTCAGATC -3'
(R):5'- CAGATTCAGGACTGTGATGAAAAGAC -3'
Posted On 2022-03-25