Incidental Mutation 'IGL01319:Fbxw14'
ID73992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw14
Ensembl Gene ENSMUSG00000105589
Gene NameF-box and WD-40 domain protein 14
SynonymsE330009N23Rik, Fbxo12, Fbx12
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #IGL01319
Quality Score
Status
Chromosome9
Chromosomal Location109270790-109287676 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 109278791 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 172 (K172E)
Ref Sequence ENSEMBL: ENSMUSP00000143404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112041] [ENSMUST00000198048] [ENSMUST00000198844]
Predicted Effect probably damaging
Transcript: ENSMUST00000066901
AA Change: K172E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066613
Gene: ENSMUSG00000054087
AA Change: K172E

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 damaging
Transcript: ENSMUST00000112041
AA Change: K172E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107672
Gene: ENSMUSG00000105589
AA Change: K172E

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 damaging
Transcript: ENSMUST00000198844
AA Change: K172E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143404
Gene: ENSMUSG00000105589
AA Change: K172E

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,933,642 V307E probably benign Het
Bub1b T C 2: 118,614,994 I265T possibly damaging Het
Cntnap3 G A 13: 64,787,837 T404I probably damaging Het
Disc1 T C 8: 125,087,891 S165P probably damaging Het
Dock1 T C 7: 134,789,278 F756L probably benign Het
Dock2 A G 11: 34,698,790 V480A possibly damaging Het
Drc3 A G 11: 60,364,962 D125G probably null Het
Emid1 C T 11: 5,143,859 C96Y probably damaging Het
F13b A G 1: 139,506,793 N99S probably damaging Het
Fam20a A G 11: 109,678,458 probably benign Het
Fancd2 C A 6: 113,584,899 T1243K probably damaging Het
Gm13941 T C 2: 111,094,805 probably null Het
Gtpbp4 A T 13: 8,985,260 N354K probably benign Het
Igkv2-116 T C 6: 68,152,404 L50P probably benign Het
Klrb1-ps1 C T 6: 129,116,585 P23L possibly damaging Het
Kng2 T A 16: 23,028,834 I26F probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Lrpprc T C 17: 84,705,412 probably benign Het
Man2a2 C T 7: 80,361,132 V704M possibly damaging Het
Mbip A G 12: 56,330,242 V303A probably benign Het
Mipep A T 14: 60,843,271 M571L probably benign Het
Ncan A T 8: 70,097,562 V1188D probably damaging Het
Pcdhb4 T C 18: 37,308,513 V292A probably benign Het
Pkd1 T C 17: 24,587,919 probably benign Het
Ppp2r2c T A 5: 36,947,121 S282T possibly damaging Het
Rad54l2 C T 9: 106,719,046 G231D probably benign Het
Rnf20 T G 4: 49,649,326 D443E probably damaging Het
Rptor A G 11: 119,891,170 M1108V probably benign Het
Serpine2 A G 1: 79,810,694 V182A probably damaging Het
Sesn2 C T 4: 132,499,967 probably benign Het
Shank1 C A 7: 44,353,123 A1422E possibly damaging Het
Slc13a4 C T 6: 35,307,353 probably null Het
Snrnp200 T C 2: 127,230,127 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
Tbxas1 A G 6: 39,017,973 I178V probably benign Het
Tmem2 C T 19: 21,844,757 P1172L possibly damaging Het
Triml1 A G 8: 43,141,397 probably benign Het
Tsen2 A T 6: 115,576,984 Q441L probably damaging Het
Ttc23l A G 15: 10,509,406 probably benign Het
Ttc37 A G 13: 76,129,379 H491R probably benign Het
Ttn T C 2: 76,881,304 probably benign Het
Vsig10l C T 7: 43,465,254 S293L probably damaging Het
Zcchc13 C A X: 103,631,000 Q110K possibly damaging Het
Other mutations in Fbxw14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Fbxw14 APN 9 109274572 missense possibly damaging 0.47
IGL01654:Fbxw14 APN 9 109286580 splice site probably benign
K3955:Fbxw14 UTSW 9 109276245 missense possibly damaging 0.87
R0064:Fbxw14 UTSW 9 109287592 nonsense probably null
R0133:Fbxw14 UTSW 9 109274579 missense probably benign 0.02
R0975:Fbxw14 UTSW 9 109271239 missense probably benign 0.00
R1124:Fbxw14 UTSW 9 109276168 missense possibly damaging 0.48
R1782:Fbxw14 UTSW 9 109278691 missense possibly damaging 0.94
R2118:Fbxw14 UTSW 9 109274624 splice site probably benign
R3881:Fbxw14 UTSW 9 109271194 missense possibly damaging 0.95
R4641:Fbxw14 UTSW 9 109278682 critical splice donor site probably null
R4915:Fbxw14 UTSW 9 109274524 missense possibly damaging 0.82
R4952:Fbxw14 UTSW 9 109276201 missense probably benign 0.01
R6137:Fbxw14 UTSW 9 109276222 missense probably damaging 1.00
R6187:Fbxw14 UTSW 9 109276264 missense probably damaging 1.00
R6584:Fbxw14 UTSW 9 109286543 missense possibly damaging 0.85
R7130:Fbxw14 UTSW 9 109271282 missense probably benign 0.02
R7845:Fbxw14 UTSW 9 109287603 missense probably damaging 1.00
R8049:Fbxw14 UTSW 9 109276143 missense probably damaging 0.98
R8169:Fbxw14 UTSW 9 109277216 missense probably benign 0.05
X0067:Fbxw14 UTSW 9 109276201 missense probably benign 0.01
Z1177:Fbxw14 UTSW 9 109276246 missense probably benign 0.02
Posted On2013-10-07