Incidental Mutation 'IGL03095:Wdr43'
ID418545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr43
Ensembl Gene ENSMUSG00000041057
Gene NameWD repeat domain 43
Synonyms2610318G08Rik
Accession Numbers

Ncbi RefSeq: NM_175639.1; MGI:1919765

Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL03095
Quality Score
Status
Chromosome17
Chromosomal Location71616215-71659031 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 71641287 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 391 (V391I)
Ref Sequence ENSEMBL: ENSMUSP00000048337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047086]
Predicted Effect probably benign
Transcript: ENSMUST00000047086
AA Change: V391I

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: V391I

DomainStartEndE-ValueType
WD40 8 42 4.42e1 SMART
WD40 45 110 2.2e2 SMART
WD40 113 154 7.85e-7 SMART
WD40 157 194 1.24e-4 SMART
WD40 197 249 5.52e0 SMART
Blast:WD40 256 299 1e-18 BLAST
low complexity region 320 334 N/A INTRINSIC
Pfam:Utp12 472 575 2.3e-23 PFAM
coiled coil region 635 663 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175146
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(36) : Gene trapped(36)

Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bche A G 3: 73,701,883 L70P probably damaging Het
Cacna1h C A 17: 25,383,778 probably benign Het
Ccdc60 A T 5: 116,146,215 probably benign Het
Cep152 T C 2: 125,618,451 N194D probably benign Het
Chodl T A 16: 78,941,433 D96E probably damaging Het
Clca3b C A 3: 144,846,910 G122* probably null Het
Crybg1 T C 10: 43,989,249 I1411V probably damaging Het
Dock9 A C 14: 121,639,528 V477G probably damaging Het
Fam149a T A 8: 45,341,228 E632D probably damaging Het
Gabra4 A G 5: 71,624,015 V351A probably damaging Het
Gen1 T A 12: 11,248,264 I319L probably benign Het
Gne C A 4: 44,055,211 D255Y probably damaging Het
Gpr146 A G 5: 139,392,950 H169R probably benign Het
Htatip2 A G 7: 49,759,774 E92G probably benign Het
Ipcef1 A G 10: 6,919,732 S223P probably damaging Het
Kcnmb2 T A 3: 32,198,127 *37R probably null Het
Lin54 A T 5: 100,454,478 V400E probably damaging Het
Ltbp1 C A 17: 75,282,418 Q511K possibly damaging Het
Lyg1 A G 1: 37,950,768 probably benign Het
Nampt T A 12: 32,842,686 V324D possibly damaging Het
Nat8b-ps T G 6: 85,932,968 probably benign Het
Neb G A 2: 52,169,088 H213Y probably damaging Het
Nfkb1 T C 3: 135,618,830 E179G possibly damaging Het
Nlrc5 T A 8: 94,521,908 probably benign Het
Olfr102 T A 17: 37,313,773 I204F probably benign Het
Olfr1085 A T 2: 86,658,431 L9Q possibly damaging Het
Pcdh15 G A 10: 74,355,874 V601M probably damaging Het
Pigc G A 1: 161,970,776 R109Q possibly damaging Het
Plxna2 A G 1: 194,801,127 N1582S probably damaging Het
Pros1 C T 16: 62,907,769 Q279* probably null Het
Psmb5 A G 14: 54,616,557 S155P probably damaging Het
Rock2 T A 12: 16,953,340 D393E probably benign Het
Slc25a21 T C 12: 56,738,625 T156A probably benign Het
Slc44a1 T A 4: 53,536,374 Y183* probably null Het
Sytl2 C T 7: 90,392,434 P580L probably damaging Het
Tktl2 G T 8: 66,512,284 V165F probably damaging Het
Trim55 A G 3: 19,674,465 E480G probably benign Het
Vmn2r92 T A 17: 18,166,710 S104T possibly damaging Het
Vps51 C T 19: 6,070,048 R490H probably damaging Het
Zranb1 T G 7: 132,949,906 Y121* probably null Het
Other mutations in Wdr43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Wdr43 APN 17 71652814 missense probably damaging 1.00
IGL02077:Wdr43 APN 17 71640291 missense probably benign 0.00
IGL02114:Wdr43 APN 17 71652848 missense probably benign 0.00
IGL02252:Wdr43 APN 17 71626850 missense probably damaging 1.00
IGL02352:Wdr43 APN 17 71632048 missense possibly damaging 0.90
IGL02359:Wdr43 APN 17 71632048 missense possibly damaging 0.90
IGL03082:Wdr43 APN 17 71638341 missense probably damaging 0.99
IGL02837:Wdr43 UTSW 17 71642736 missense probably benign 0.00
R0039:Wdr43 UTSW 17 71653492 nonsense probably null
R0164:Wdr43 UTSW 17 71631997 splice site probably benign
R0271:Wdr43 UTSW 17 71626825 missense probably benign 0.00
R1117:Wdr43 UTSW 17 71616387 missense probably benign 0.35
R1873:Wdr43 UTSW 17 71633652 missense probably benign 0.05
R1973:Wdr43 UTSW 17 71640240 missense probably benign 0.00
R3620:Wdr43 UTSW 17 71650606 missense probably benign 0.13
R3922:Wdr43 UTSW 17 71638301 splice site probably benign
R4097:Wdr43 UTSW 17 71657537 missense probably benign
R5067:Wdr43 UTSW 17 71626854 missense probably benign
R5282:Wdr43 UTSW 17 71648777 missense probably damaging 1.00
R6251:Wdr43 UTSW 17 71650053 splice site probably null
R6364:Wdr43 UTSW 17 71657654 missense probably damaging 0.96
R7086:Wdr43 UTSW 17 71616439 missense probably benign 0.02
R7725:Wdr43 UTSW 17 71616343 missense probably benign 0.27
R8104:Wdr43 UTSW 17 71616355 missense probably benign 0.01
Posted On2016-08-02