Incidental Mutation 'R9455:Fbxw14'
ID 714540
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 # R9455 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 109099858-109116744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109103567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 371 (N371K)
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: N318K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107672
Gene: ENSMUSG00000105589
AA Change: N318K

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
AA Change: N48K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000198844
AA Change: N371K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143404
Gene: ENSMUSG00000105589
AA Change: N371K

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,353,897 (GRCm39) Y3740H probably damaging Het
Acsl6 G T 11: 54,210,752 (GRCm39) probably benign Het
Adamts5 C T 16: 85,667,017 (GRCm39) D492N probably damaging Het
Als2 T C 1: 59,219,296 (GRCm39) E1218G probably damaging Het
Bcl2l15 C T 3: 103,743,369 (GRCm39) T90I unknown Het
Bsn A G 9: 107,988,531 (GRCm39) V2407A unknown Het
Casp8ap2 T C 4: 32,643,924 (GRCm39) M999T possibly damaging Het
Ccdc66 G A 14: 27,208,872 (GRCm39) P461S probably benign Het
Cd46 G A 1: 194,744,704 (GRCm39) L345F possibly damaging Het
Cep295 A T 9: 15,245,046 (GRCm39) S1137T possibly damaging Het
Chd7 A G 4: 8,752,061 (GRCm39) Y186C unknown Het
Clca3b T A 3: 144,529,023 (GRCm39) T884S unknown Het
Cndp2 T A 18: 84,690,246 (GRCm39) Y232F probably benign Het
Cx3cr1 A T 9: 119,880,659 (GRCm39) Y248N probably damaging Het
Dnm3 A T 1: 162,148,524 (GRCm39) N282K possibly damaging Het
Emilin2 T C 17: 71,581,485 (GRCm39) I414V probably benign Het
F3 A T 3: 121,527,866 (GRCm39) N288I probably damaging Het
Fat4 T C 3: 38,945,412 (GRCm39) L1435P Het
Firrm G T 1: 163,781,721 (GRCm39) T902K probably benign Het
Fn1 T A 1: 71,647,112 (GRCm39) E1559D probably benign Het
Frrs1 T A 3: 116,695,972 (GRCm39) M497K possibly damaging Het
Gm45861 C T 8: 28,041,394 (GRCm39) Q1000* probably null Het
Gpr152 T C 19: 4,193,844 (GRCm39) S462P probably benign Het
Irgq A G 7: 24,231,217 (GRCm39) N136S probably benign Het
Kdm2b T C 5: 123,099,537 (GRCm39) Y134C probably damaging Het
Klf12 A T 14: 100,347,226 (GRCm39) L35H probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Ksr1 A T 11: 78,911,602 (GRCm39) C727S possibly damaging Het
Lpin3 G T 2: 160,737,259 (GRCm39) R102L probably benign Het
Ltv1 T C 10: 13,058,117 (GRCm39) E229G probably damaging Het
Ly6f T A 15: 75,141,648 (GRCm39) Y30* probably null Het
Map2k7 C G 8: 4,293,957 (GRCm39) R168G probably damaging Het
Mep1a T C 17: 43,805,867 (GRCm39) E100G probably benign Het
Mrgpra6 T A 7: 46,838,967 (GRCm39) Y46F probably damaging Het
Mroh6 C A 15: 75,759,905 (GRCm39) R143L probably benign Het
Myom2 T A 8: 15,156,293 (GRCm39) H713Q probably benign Het
Ndn C T 7: 61,998,337 (GRCm39) P61L possibly damaging Het
Or51b6 G T 7: 103,556,200 (GRCm39) V182F Het
Pear1 T A 3: 87,666,488 (GRCm39) T72S possibly damaging Het
Sel1l3 T A 5: 53,289,157 (GRCm39) N888I probably damaging Het
Sell A T 1: 163,894,218 (GRCm39) T171S probably benign Het
Semp2l1 A T 1: 32,585,907 (GRCm39) M1K probably null Het
Sin3b G T 8: 73,450,681 (GRCm39) A37S possibly damaging Het
Sipa1l1 T C 12: 82,434,399 (GRCm39) F723S probably damaging Het
Slc26a8 T C 17: 28,863,588 (GRCm39) T724A probably damaging Het
Slc51a T G 16: 32,305,013 (GRCm39) N25H probably damaging Het
Slc9a4 T C 1: 40,668,612 (GRCm39) F752L probably benign Het
Slco4a1 A C 2: 180,115,370 (GRCm39) D649A probably benign Het
Tax1bp1 T A 6: 52,743,029 (GRCm39) H805Q probably damaging Het
Tgfb1i1 T C 7: 127,852,009 (GRCm39) F303L probably damaging Het
Tsg101 A T 7: 46,563,151 (GRCm39) D34E probably damaging Het
Tspoap1 T C 11: 87,661,359 (GRCm39) S604P probably damaging Het
Ttll2 C A 17: 7,619,692 (GRCm39) W78C probably damaging Het
Ttn A G 2: 76,749,334 (GRCm39) F3905S possibly damaging Het
Txnrd2 G T 16: 18,248,615 (GRCm39) C57F probably damaging Het
Vcan A T 13: 89,837,452 (GRCm39) D2697E probably damaging Het
Vwa8 G A 14: 79,300,115 (GRCm39) V983I probably damaging 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
R9306:Fbxw14 UTSW 9 109,100,280 (GRCm39) missense probably benign 0.12
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'- AGTAGGCTGCAGTCAATATCAG -3'
(R):5'- CAGACTAGCATGCCATGGAAG -3'

Sequencing Primer
(F):5'- TGCTCTGAGCCCATGTAAAG -3'
(R):5'- CAGTAAGCATGAAGGATATTGCTC -3'
Posted On 2022-06-15