Incidental Mutation 'IGL00231:Wdr43'
ID 2072
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr43
Ensembl Gene ENSMUSG00000041057
Gene Name WD repeat domain 43
Synonyms 2610318G08Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL00231
Quality Score
Status
Chromosome 17
Chromosomal Location 71923175-71966026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 71959809 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q6ZQL4
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
Adamtsl1 A G 4: 86,303,877 (GRCm39) T1346A probably benign Het
Ccdc102a T C 8: 95,638,266 (GRCm39) probably null Het
Cgrrf1 T C 14: 47,069,779 (GRCm39) F16S probably damaging Het
Clybl T C 14: 122,616,610 (GRCm39) probably benign Het
Cubn T C 2: 13,386,660 (GRCm39) E1535G possibly damaging Het
Dmrtc1b C A X: 101,757,233 (GRCm39) P226H probably benign Het
Dnah17 G A 11: 117,979,040 (GRCm39) A1784V possibly damaging Het
Dnajc24 A G 2: 105,832,348 (GRCm39) Y12H probably damaging Het
Drd1 T C 13: 54,207,486 (GRCm39) T236A probably benign Het
Ep400 A T 5: 110,835,707 (GRCm39) V1934D unknown Het
Flt1 A G 5: 147,517,110 (GRCm39) probably null Het
Fut8 A G 12: 77,495,262 (GRCm39) K284R probably benign Het
Hcn1 A G 13: 118,112,529 (GRCm39) E831G probably damaging Het
Inpp5j A T 11: 3,450,009 (GRCm39) probably benign Het
Insig2 A G 1: 121,233,676 (GRCm39) Y213H probably damaging Het
Kcnh4 G A 11: 100,647,821 (GRCm39) probably benign Het
Kifc2 T A 15: 76,551,662 (GRCm39) probably benign Het
Krt75 T C 15: 101,481,081 (GRCm39) E231G probably benign Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mfsd4b2 T A 10: 39,801,057 (GRCm39) probably benign Het
Micall2 T A 5: 139,703,311 (GRCm39) probably null Het
Or10ag2 A G 2: 87,248,910 (GRCm39) T173A possibly damaging Het
Or8s5 C T 15: 98,238,054 (GRCm39) S256N possibly damaging Het
Osbp2 C T 11: 3,676,561 (GRCm39) D287N possibly damaging Het
Plin1 A G 7: 79,376,408 (GRCm39) probably benign Het
Ppl T C 16: 4,907,409 (GRCm39) N962S probably benign Het
Psg25 C T 7: 18,260,106 (GRCm39) probably benign Het
Ptprt A T 2: 161,652,544 (GRCm39) D601E probably benign Het
S100a7l2 A G 3: 90,995,665 (GRCm39) M79T probably benign Het
Sbno2 C A 10: 79,900,340 (GRCm39) probably benign Het
Sntg2 T C 12: 30,326,720 (GRCm39) D147G probably benign Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Stam2 T A 2: 52,596,418 (GRCm39) I307F possibly damaging Het
Tbx21 T G 11: 96,989,749 (GRCm39) E481A probably damaging Het
Tsc2 G A 17: 24,827,081 (GRCm39) T876I probably damaging Het
Wdfy4 T C 14: 32,824,496 (GRCm39) I1308V possibly damaging Het
Wdr37 C T 13: 8,870,541 (GRCm39) V143I probably damaging Het
Wnk4 A G 11: 101,159,574 (GRCm39) D593G possibly damaging Het
Other mutations in Wdr43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02077:Wdr43 APN 17 71,947,286 (GRCm39) missense probably benign 0.00
IGL02114:Wdr43 APN 17 71,959,843 (GRCm39) missense probably benign 0.00
IGL02252:Wdr43 APN 17 71,933,845 (GRCm39) missense probably damaging 1.00
IGL02352:Wdr43 APN 17 71,939,043 (GRCm39) missense possibly damaging 0.90
IGL02359:Wdr43 APN 17 71,939,043 (GRCm39) missense possibly damaging 0.90
IGL03082:Wdr43 APN 17 71,945,336 (GRCm39) missense probably damaging 0.99
IGL03095:Wdr43 APN 17 71,948,282 (GRCm39) missense probably benign 0.28
IGL02837:Wdr43 UTSW 17 71,949,731 (GRCm39) missense probably benign 0.00
R0039:Wdr43 UTSW 17 71,960,487 (GRCm39) nonsense probably null
R0164:Wdr43 UTSW 17 71,938,992 (GRCm39) splice site probably benign
R0271:Wdr43 UTSW 17 71,933,820 (GRCm39) missense probably benign 0.00
R1117:Wdr43 UTSW 17 71,923,382 (GRCm39) missense probably benign 0.35
R1873:Wdr43 UTSW 17 71,940,647 (GRCm39) missense probably benign 0.05
R1973:Wdr43 UTSW 17 71,947,235 (GRCm39) missense probably benign 0.00
R3620:Wdr43 UTSW 17 71,957,601 (GRCm39) missense probably benign 0.13
R3922:Wdr43 UTSW 17 71,945,296 (GRCm39) splice site probably benign
R4097:Wdr43 UTSW 17 71,964,532 (GRCm39) missense probably benign
R5067:Wdr43 UTSW 17 71,933,849 (GRCm39) missense probably benign
R5282:Wdr43 UTSW 17 71,955,772 (GRCm39) missense probably damaging 1.00
R6251:Wdr43 UTSW 17 71,957,048 (GRCm39) splice site probably null
R6364:Wdr43 UTSW 17 71,964,649 (GRCm39) missense probably damaging 0.96
R7086:Wdr43 UTSW 17 71,923,434 (GRCm39) missense probably benign 0.02
R7725:Wdr43 UTSW 17 71,923,338 (GRCm39) missense probably benign 0.27
R8104:Wdr43 UTSW 17 71,923,350 (GRCm39) missense probably benign 0.01
R8901:Wdr43 UTSW 17 71,932,461 (GRCm39) missense probably benign 0.00
R9648:Wdr43 UTSW 17 71,960,494 (GRCm39) missense probably benign 0.04
Posted On 2011-12-09