Incidental Mutation 'IGL00885:Fbxo47'
ID28460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo47
Ensembl Gene ENSMUSG00000070336
Gene NameF-box protein 47
Synonyms2900052P03Rik, LOC380724
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00885
Quality Score
Status
Chromosome11
Chromosomal Location97853826-97884154 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 97878120 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 63 (D63E)
Ref Sequence ENSEMBL: ENSMUSP00000091471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093939]
Predicted Effect probably benign
Transcript: ENSMUST00000093939
AA Change: D63E

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000091471
Gene: ENSMUSG00000070336
AA Change: D63E

DomainStartEndE-ValueType
Pfam:F-box 43 80 2e-6 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A T 17: 42,714,315 probably benign Het
Adora2a T G 10: 75,333,451 F250V probably damaging Het
Atp8b5 T C 4: 43,355,567 S516P probably damaging Het
Btbd16 A G 7: 130,788,822 I150V probably damaging Het
Capn13 A T 17: 73,339,425 I331N possibly damaging Het
Capzb A G 4: 139,287,050 S233G probably benign Het
Clasp2 A G 9: 113,911,416 R1171G probably damaging Het
Col16a1 T G 4: 130,096,910 I1419S probably damaging Het
Coro7 T A 16: 4,635,026 Y286F probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Cyp11b2 T C 15: 74,853,515 T252A probably benign Het
Daam1 T A 12: 71,944,091 C160S unknown Het
Ephx4 T C 5: 107,406,125 probably benign Het
Fgf3 A T 7: 144,840,784 probably benign Het
Fstl4 C T 11: 53,148,982 T331I possibly damaging Het
Gm597 T C 1: 28,776,845 E702G unknown Het
Gpr158 T C 2: 21,649,021 F467S probably damaging Het
Igfbpl1 C T 4: 45,826,478 V106I probably damaging Het
Ikzf2 T C 1: 69,539,322 T271A possibly damaging Het
Kat14 T A 2: 144,394,255 N302K probably benign Het
Kmt2c G T 5: 25,409,171 Q184K possibly damaging Het
Moxd2 A G 6: 40,884,179 probably benign Het
Nbeal2 C A 9: 110,638,661 E479D probably damaging Het
Neo1 A G 9: 58,888,463 L1231P probably damaging Het
Nfatc3 C T 8: 106,099,177 P620L probably damaging Het
Nol9 T C 4: 152,041,600 F253L probably damaging Het
Nutm2 T A 13: 50,474,860 S653R probably benign Het
Olfr138 A C 17: 38,274,899 I43L probably benign Het
Olfr1504 A T 19: 13,888,168 M14K probably benign Het
Plcg1 A G 2: 160,758,083 D921G probably benign Het
Plpp4 A T 7: 129,321,533 I101F probably damaging Het
Psg17 A T 7: 18,820,166 L53Q probably damaging Het
Ptpn4 A T 1: 119,802,363 I20N possibly damaging Het
R3hdm1 A T 1: 128,236,438 I1030L probably damaging Het
Rpl7 A C 1: 16,102,583 S171A possibly damaging Het
Snx25 G A 8: 46,038,476 T859M probably damaging Het
Tmem94 A G 11: 115,795,328 M990V probably damaging Het
Tnnt2 A G 1: 135,846,764 probably benign Het
Ttn T C 2: 76,709,685 H34319R possibly damaging Het
Vmn1r72 A G 7: 11,670,497 V8A probably benign Het
Zbtb41 A G 1: 139,430,324 T457A probably benign Het
Other mutations in Fbxo47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01488:Fbxo47 APN 11 97868678 splice site probably benign
IGL01924:Fbxo47 APN 11 97856160 missense probably damaging 0.99
R0076:Fbxo47 UTSW 11 97857655 splice site probably benign
R0076:Fbxo47 UTSW 11 97857655 splice site probably benign
R0100:Fbxo47 UTSW 11 97868606 missense probably damaging 1.00
R1301:Fbxo47 UTSW 11 97868601 missense probably benign
R4688:Fbxo47 UTSW 11 97856223 missense probably damaging 0.99
R4746:Fbxo47 UTSW 11 97879428 missense probably benign 0.32
R5170:Fbxo47 UTSW 11 97857694 missense probably benign 0.21
R6544:Fbxo47 UTSW 11 97856263 missense probably damaging 1.00
R7467:Fbxo47 UTSW 11 97865167 missense probably benign 0.02
R7513:Fbxo47 UTSW 11 97856229 missense probably damaging 0.96
R8118:Fbxo47 UTSW 11 97879515 missense probably benign
Posted On2013-04-17