Incidental Mutation 'IGL03082:Wdr43'
ID 417908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr43
Ensembl Gene ENSMUSG00000041057
Gene Name WD repeat domain 43
Synonyms 2610318G08Rik
Accession Numbers

Ncbi RefSeq: NM_175639.1; MGI:1919765

Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL03082
Quality Score
Status
Chromosome 17
Chromosomal Location 71616215-71659031 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71638341 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 315 (T315I)
Ref Sequence ENSEMBL: ENSMUSP00000048337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047086]
AlphaFold Q6ZQL4
Predicted Effect probably damaging
Transcript: ENSMUST00000047086
AA Change: T315I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: T315I

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic1 T A 15: 99,696,547 N324K probably benign Het
Atpaf2 T C 11: 60,403,844 E251G probably damaging Het
Cacna1d T C 14: 30,099,233 K1109E probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Chst1 C T 2: 92,613,933 T250I possibly damaging Het
Cpne6 T C 14: 55,516,303 L406P probably damaging Het
Cryz A G 3: 154,604,926 M8V probably damaging Het
Dpysl2 T C 14: 66,808,010 E438G probably damaging Het
Elovl1 T C 4: 118,430,880 I71T probably benign Het
Eml2 T A 7: 19,201,877 Y679N probably damaging Het
Fam185a G A 5: 21,455,838 V284I possibly damaging Het
Fpgs C T 2: 32,685,757 W391* probably null Het
Hdac11 C T 6: 91,173,103 P295S probably damaging Het
Herc2 A T 7: 56,185,923 I3260F probably benign Het
Hltf G A 3: 20,064,559 probably benign Het
Immp2l T G 12: 41,110,901 V66G possibly damaging Het
Lrrc4c T C 2: 97,630,586 I519T probably benign Het
Megf8 A G 7: 25,330,236 T402A probably benign Het
Mttp T G 3: 138,123,795 I111L probably benign Het
Mycbp2 T A 14: 103,204,369 I1987F probably benign Het
Ncr1 T A 7: 4,341,242 probably benign Het
Nedd4 G A 9: 72,677,394 probably null Het
Nnt A G 13: 119,396,868 F87S probably damaging Het
Nol6 A G 4: 41,115,878 probably benign Het
Pdzd3 A T 9: 44,250,786 S39T possibly damaging Het
Pkhd1 A T 1: 20,565,633 I491N probably damaging Het
Plcxd2 T C 16: 45,965,110 I311V probably damaging Het
Pou2f3 C A 9: 43,146,915 probably null Het
Rgsl1 G A 1: 153,799,947 T836I possibly damaging Het
Rttn G A 18: 88,983,948 G328D probably damaging Het
Serpina11 T C 12: 103,986,301 E77G probably benign Het
Slc35f1 G A 10: 52,933,138 V74I probably benign Het
Slc7a6 A G 8: 106,193,222 probably null Het
Smco2 A G 6: 146,860,044 T154A possibly damaging Het
Tcerg1 A G 18: 42,573,357 Y1033C probably damaging Het
Tmem87a A G 2: 120,397,366 F100S possibly damaging Het
Tssk4 T C 14: 55,651,061 F129S probably damaging 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
IGL03095:Wdr43 APN 17 71641287 missense probably benign 0.28
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
R8901:Wdr43 UTSW 17 71625466 missense probably benign 0.00
Posted On 2016-08-02