Incidental Mutation 'IGL02359:Wdr43'
ID 290424
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
Essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL02359
Quality Score
Status
Chromosome 17
Chromosomal Location 71616215-71659031 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71632048 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 217 (T217M)
Ref Sequence ENSEMBL: ENSMUSP00000048337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047086]
AlphaFold Q6ZQL4
Predicted Effect possibly damaging
Transcript: ENSMUST00000047086
AA Change: T217M

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: T217M

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: ENSMUST00000175548
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(36) : Gene trapped(36)
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A C 12: 72,895,055 probably null Het
Abca5 T A 11: 110,275,330 N1540I probably benign Het
Adamtsl5 T A 10: 80,343,728 probably null Het
Aldh2 T C 5: 121,575,897 E128G probably null Het
Ano3 A T 2: 110,884,943 L50* probably null Het
Atp13a3 A G 16: 30,351,084 I392T probably damaging Het
C1qtnf5 A G 9: 44,108,334 E85G possibly damaging Het
Cacna1s A T 1: 136,093,252 probably benign Het
Ccdc150 G A 1: 54,272,521 R222H probably benign Het
Cep55 T A 19: 38,069,868 I303N probably damaging Het
Cmip A T 8: 117,411,255 probably benign Het
Cyp21a1 A G 17: 34,804,222 Y60H probably damaging Het
Cyp2d11 A G 15: 82,393,920 W10R possibly damaging Het
Dock10 A G 1: 80,505,661 Y2076H probably damaging Het
Egflam T C 15: 7,234,225 N748S probably benign Het
Fam227b A G 2: 126,146,254 probably benign Het
Fancd2 T A 6: 113,563,112 I654N probably damaging Het
Gm17018 G T 19: 45,577,054 A156S probably benign Het
Gm17727 A T 9: 35,777,884 M1K probably null Het
Hpf1 A G 8: 60,896,802 I155V probably benign Het
Hrh1 C A 6: 114,480,443 N228K probably benign Het
Igkv3-2 T C 6: 70,698,490 L8P probably damaging Het
Iqgap3 T C 3: 88,101,960 F734L probably benign Het
Kif5a T C 10: 127,243,501 Y276C probably damaging Het
Lax1 A T 1: 133,680,470 S178T possibly damaging Het
March6 C T 15: 31,509,759 C28Y probably damaging Het
Mylk3 T C 8: 85,355,302 T356A probably benign Het
Olfr166 T C 16: 19,487,177 L113P probably damaging Het
Pgap2 G T 7: 102,236,139 V71F probably damaging Het
Prob1 T G 18: 35,652,840 E787A possibly damaging Het
Psmd2 C A 16: 20,656,941 D430E probably benign Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpinb9e A T 13: 33,257,820 probably benign Het
Sgsm2 G T 11: 74,892,074 probably benign Het
Slc38a9 A G 13: 112,690,186 I153V probably benign Het
Slco1b2 T A 6: 141,685,525 D628E probably damaging Het
Sult2a5 T C 7: 13,628,802 S145P probably benign Het
Sv2b T C 7: 75,136,449 T408A probably benign Het
Usp24 T C 4: 106,403,925 C1626R probably damaging Het
Wdr95 G A 5: 149,580,619 V155M probably damaging Het
Wsb1 G A 11: 79,251,012 L60F probably damaging Het
Wwp2 C T 8: 107,540,646 R297* probably null Het
Xkr6 T C 14: 63,819,707 Y356H unknown 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
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
R8901:Wdr43 UTSW 17 71625466 missense probably benign 0.00
R9648:Wdr43 UTSW 17 71653499 missense probably benign 0.04
Posted On 2015-04-16