Incidental Mutation 'IGL01924:Fbxo47'
ID 180217
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo47
Ensembl Gene ENSMUSG00000070336
Gene Name F-box protein 47
Synonyms 2900052P03Rik, LOC380724
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01924
Quality Score
Status
Chromosome 11
Chromosomal Location 97853826-97884154 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 97856160 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 360 (A360D)
Ref Sequence ENSEMBL: ENSMUSP00000091471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093939]
AlphaFold A2A6H3
Predicted Effect probably damaging
Transcript: ENSMUST00000093939
AA Change: A360D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091471
Gene: ENSMUSG00000070336
AA Change: A360D

DomainStartEndE-ValueType
Pfam:F-box 43 80 2e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125403
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,223,986 probably benign Het
Adamts13 A G 2: 26,996,583 E938G possibly damaging Het
Aox2 C T 1: 58,287,743 T167I possibly damaging Het
Apba3 G T 10: 81,273,073 A557S probably benign Het
Atad2b T C 12: 5,034,093 L1382P probably damaging Het
Atrn C T 2: 130,935,565 T178I probably damaging Het
B4galnt1 A G 10: 127,166,761 S88G probably benign Het
Baz2b T C 2: 59,935,271 K887E probably damaging Het
Ccdc162 A C 10: 41,569,887 F430V probably damaging Het
Cdc42bpb T A 12: 111,317,453 probably benign Het
Chit1 A G 1: 134,149,410 D317G probably benign Het
Chrnb1 A T 11: 69,795,019 probably benign Het
Cobl G T 11: 12,254,596 T620K probably benign Het
Creld1 T C 6: 113,483,960 F20L probably benign Het
Csmd2 A T 4: 128,559,947 D3475V unknown Het
Cyp3a57 A G 5: 145,372,629 D259G probably benign Het
Dbnl A G 11: 5,797,142 Y224C probably damaging Het
Det1 A T 7: 78,843,823 C144* probably null Het
Frrs1 G A 3: 116,885,239 G237R probably damaging Het
Gatsl2 T C 5: 134,135,602 F134S probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4788 G A 1: 139,739,206 L444F probably damaging Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gria2 T C 3: 80,710,331 T372A probably benign Het
Hmcn2 A T 2: 31,398,917 Q2246L probably benign Het
Ide T C 19: 37,272,164 M930V unknown Het
Kdm5a T C 6: 120,394,255 probably null Het
Khnyn A G 14: 55,894,969 T625A probably benign Het
Lrrtm1 T C 6: 77,244,186 F209L possibly damaging Het
Med13 C A 11: 86,308,696 probably benign Het
Myom2 A G 8: 15,069,685 E147G probably benign Het
Myrip T A 9: 120,388,264 V88D probably damaging Het
Nbeal2 T C 9: 110,631,414 H1784R probably benign Het
Nlrp4e T A 7: 23,320,830 C247* probably null Het
Nup54 G A 5: 92,424,435 P252L probably benign Het
Olfr610 A G 7: 103,506,796 I50T possibly damaging Het
Otoa C A 7: 121,105,968 N244K probably damaging Het
Pbrm1 G A 14: 31,082,604 R960H probably damaging Het
Ptcd3 A T 6: 71,898,427 N190K probably damaging Het
Rhobtb1 T A 10: 69,270,304 L233H probably damaging Het
Sec24c T A 14: 20,689,689 F545I probably damaging Het
Slc6a15 T C 10: 103,404,825 probably null Het
Slitrk1 G A 14: 108,911,239 A680V probably benign Het
Smpd1 C T 7: 105,555,448 S178L probably benign Het
Spindoc A G 19: 7,382,677 L42P probably damaging Het
Tenm4 A G 7: 96,895,212 E2145G probably damaging Het
Tmem144 G T 3: 79,839,194 A18E probably damaging Het
Tmem213 A T 6: 38,109,438 S10C possibly damaging Het
Trav6-3 A T 14: 53,430,343 I102L probably benign Het
Trip11 T G 12: 101,886,884 N483T possibly damaging Het
Unc13b C T 4: 43,239,385 R1056* probably null Het
Wdr27 T G 17: 14,917,226 K433N probably damaging Het
Wls C A 3: 159,901,443 S189* probably null Het
Yeats2 A G 16: 20,206,167 N706D probably damaging Het
Zbp1 A G 2: 173,212,254 V158A probably benign Het
Zfp595 G T 13: 67,317,783 H139N possibly damaging Het
Other mutations in Fbxo47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Fbxo47 APN 11 97878120 missense probably benign 0.25
IGL01488:Fbxo47 APN 11 97868678 splice site probably benign
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
R9323:Fbxo47 UTSW 11 97879428 missense probably benign 0.32
R9418:Fbxo47 UTSW 11 97856241 missense possibly damaging 0.94
Posted On 2014-05-07