Incidental Mutation 'IGL00231:Wdr43'
ID2072
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 #IGL00231
Quality Score
Status
Chromosome17
Chromosomal Location71616215-71659031 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 71652814 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 550 (Y550D)
Ref Sequence ENSEMBL: ENSMUSP00000048337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047086]
Predicted Effect probably damaging
Transcript: ENSMUST00000047086
AA Change: Y550D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: Y550D

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(36) : Gene trapped(36)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130204L05Rik A G 3: 91,088,358 M79T probably benign Het
Adamtsl1 A G 4: 86,385,640 T1346A probably benign Het
Ccdc102a T C 8: 94,911,638 probably null Het
Cgrrf1 T C 14: 46,832,322 F16S probably damaging Het
Clybl T C 14: 122,379,198 probably benign Het
Cubn T C 2: 13,381,849 E1535G possibly damaging Het
Dmrtc1b C A X: 102,713,627 P226H probably benign Het
Dnah17 G A 11: 118,088,214 A1784V possibly damaging Het
Dnajc24 A G 2: 106,002,003 Y12H probably damaging Het
Drd1 T C 13: 54,053,467 T236A probably benign Het
Ep400 A T 5: 110,687,841 V1934D unknown Het
Flt1 A G 5: 147,580,300 probably null Het
Fut8 A G 12: 77,448,488 K284R probably benign Het
Hcn1 A G 13: 117,975,993 E831G probably damaging Het
Inpp5j A T 11: 3,500,009 probably benign Het
Insig2 A G 1: 121,305,947 Y213H probably damaging Het
Kcnh4 G A 11: 100,756,995 probably benign Het
Kifc2 T A 15: 76,667,462 probably benign Het
Krt75 T C 15: 101,572,646 E231G probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mfsd4b2 T A 10: 39,925,061 probably benign Het
Micall2 T A 5: 139,717,556 probably null Het
Olfr1123 A G 2: 87,418,566 T173A possibly damaging Het
Olfr284 C T 15: 98,340,173 S256N possibly damaging Het
Osbp2 C T 11: 3,726,561 D287N possibly damaging Het
Plin1 A G 7: 79,726,660 probably benign Het
Ppl T C 16: 5,089,545 N962S probably benign Het
Psg25 C T 7: 18,526,181 probably benign Het
Ptprt A T 2: 161,810,624 D601E probably benign Het
Sbno2 C A 10: 80,064,506 probably benign Het
Sntg2 T C 12: 30,276,721 D147G probably benign Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Stam2 T A 2: 52,706,406 I307F possibly damaging Het
Tbx21 T G 11: 97,098,923 E481A probably damaging Het
Tsc2 G A 17: 24,608,107 T876I probably damaging Het
Wdfy4 T C 14: 33,102,539 I1308V possibly damaging Het
Wdr37 C T 13: 8,820,505 V143I probably damaging Het
Wnk4 A G 11: 101,268,748 D593G possibly damaging Het
Other mutations in Wdr43
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2011-12-09