Incidental Mutation 'IGL01938:Wdr72'
ID180769
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr72
Ensembl Gene ENSMUSG00000044976
Gene NameWD repeat domain 72
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.175) question?
Stock #IGL01938
Quality Score
Status
Chromosome9
Chromosomal Location74110356-74283308 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 74148774 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 304 (V304A)
Ref Sequence ENSEMBL: ENSMUSP00000149349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055879] [ENSMUST00000215440]
Predicted Effect probably benign
Transcript: ENSMUST00000055879
AA Change: V316A

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: V316A

DomainStartEndE-ValueType
WD40 4 45 1.24e0 SMART
WD40 51 93 1.54e0 SMART
WD40 143 188 8.22e1 SMART
Blast:WD40 319 363 4e-19 BLAST
WD40 398 443 8.88e0 SMART
WD40 461 506 5.97e-1 SMART
WD40 509 554 9.9e0 SMART
WD40 557 596 2.12e-3 SMART
low complexity region 694 711 N/A INTRINSIC
low complexity region 780 798 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215440
AA Change: V304A

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele display hypomineralized enamel, ameloblast abnormalities and decreased post-weaning body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik C T 5: 87,971,708 T108I probably damaging Het
Adam34 A G 8: 43,651,016 Y531H probably damaging Het
Arhgef10 T A 8: 14,991,062 N1077K probably benign Het
BC034090 G T 1: 155,232,592 probably null Het
C87499 A G 4: 88,629,363 S24P possibly damaging Het
Cachd1 A G 4: 100,974,128 I706V possibly damaging Het
Cebpz A T 17: 78,934,961 C421* probably null Het
Celsr3 T C 9: 108,828,415 V699A probably benign Het
Col5a1 A G 2: 27,996,873 N935S unknown Het
Dnah1 C T 14: 31,283,887 V2312I probably benign Het
Ebf3 T C 7: 137,309,318 T156A probably damaging Het
Ern1 A G 11: 106,411,657 V457A probably benign Het
Fam129a A G 1: 151,689,614 T232A probably benign Het
Flii T C 11: 60,715,116 Y1177C probably damaging Het
Fryl T A 5: 73,122,364 K197M probably damaging Het
Glb1l3 A G 9: 26,818,529 F515S probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Kif26b T C 1: 178,916,038 I1233T probably damaging Het
Kptn A G 7: 16,124,789 Y286C probably damaging Het
Lyst A G 13: 13,637,424 N807S possibly damaging Het
Mki67 C T 7: 135,694,330 V2992M probably benign Het
Myocd A G 11: 65,187,088 L627P probably damaging Het
Neto2 A G 8: 85,690,855 I40T probably benign Het
Nipsnap1 C T 11: 4,893,134 H269Y probably benign Het
Nlrp4g G A 9: 124,349,068 noncoding transcript Het
Nup188 A T 2: 30,329,359 R862S probably benign Het
Olfr1 T A 11: 73,395,645 I126F probably damaging Het
Olfr1253 G T 2: 89,752,348 A160D probably benign Het
Olfr820 T A 10: 130,018,112 Y250* probably null Het
Pde4c A T 8: 70,749,378 K549N probably damaging Het
Pkd1l3 A G 8: 109,635,301 T992A probably benign Het
Smyd2 A G 1: 189,888,882 V213A probably benign Het
Sult1c2 C T 17: 53,831,926 V208M probably damaging Het
Ush2a T C 1: 188,797,845 L3277P probably damaging Het
Xrra1 T C 7: 99,879,469 probably null Het
Zscan29 C T 2: 121,166,209 A344T probably benign Het
Other mutations in Wdr72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Wdr72 APN 9 74155129 missense probably damaging 1.00
IGL01385:Wdr72 APN 9 74179506 splice site probably benign
IGL01512:Wdr72 APN 9 74148759 missense probably benign 0.02
IGL01544:Wdr72 APN 9 74148725 missense probably damaging 1.00
IGL02090:Wdr72 APN 9 74154930 missense possibly damaging 0.87
IGL02121:Wdr72 APN 9 74281729 utr 3 prime probably benign
IGL02140:Wdr72 APN 9 74210223 missense probably benign 0.40
IGL02171:Wdr72 APN 9 74210534 missense possibly damaging 0.94
IGL02208:Wdr72 APN 9 74157299 missense probably damaging 1.00
IGL02936:Wdr72 APN 9 74152580 missense probably damaging 1.00
IGL02979:Wdr72 APN 9 74179556 missense probably damaging 1.00
IGL03263:Wdr72 APN 9 74157429 missense probably damaging 1.00
F5770:Wdr72 UTSW 9 74157270 missense probably damaging 0.96
R0107:Wdr72 UTSW 9 74210433 missense probably damaging 1.00
R0332:Wdr72 UTSW 9 74157252 critical splice acceptor site probably null
R0420:Wdr72 UTSW 9 74210757 missense possibly damaging 0.75
R0536:Wdr72 UTSW 9 74157408 missense probably damaging 1.00
R0565:Wdr72 UTSW 9 74217306 missense probably benign 0.34
R0755:Wdr72 UTSW 9 74145094 missense probably benign 0.05
R1183:Wdr72 UTSW 9 74179585 missense probably benign 0.00
R1636:Wdr72 UTSW 9 74179625 missense probably benign 0.00
R1668:Wdr72 UTSW 9 74210162 missense probably damaging 0.99
R1687:Wdr72 UTSW 9 74210199 missense probably benign 0.13
R1813:Wdr72 UTSW 9 74276016 missense possibly damaging 0.85
R1835:Wdr72 UTSW 9 74151617 missense probably damaging 1.00
R2036:Wdr72 UTSW 9 74151594 missense probably damaging 1.00
R2113:Wdr72 UTSW 9 74145172 missense probably benign 0.07
R2331:Wdr72 UTSW 9 74148326 missense probably damaging 1.00
R2369:Wdr72 UTSW 9 74210175 missense possibly damaging 0.77
R3973:Wdr72 UTSW 9 74218697 missense probably benign
R4021:Wdr72 UTSW 9 74151593 missense probably benign 0.18
R4596:Wdr72 UTSW 9 74151605 missense probably benign 0.00
R4665:Wdr72 UTSW 9 74210024 missense probably benign 0.10
R4694:Wdr72 UTSW 9 74179555 missense probably damaging 1.00
R4894:Wdr72 UTSW 9 74210561 missense probably benign 0.00
R5027:Wdr72 UTSW 9 74145976 missense probably damaging 1.00
R5269:Wdr72 UTSW 9 74157371 missense probably damaging 1.00
R5432:Wdr72 UTSW 9 74275946 missense probably damaging 1.00
R5470:Wdr72 UTSW 9 74139699 nonsense probably null
R5717:Wdr72 UTSW 9 74148205 missense probably damaging 1.00
R5793:Wdr72 UTSW 9 74210343 missense probably benign 0.02
R5963:Wdr72 UTSW 9 74145028 missense probably damaging 1.00
R6108:Wdr72 UTSW 9 74151668 missense probably damaging 0.97
R6111:Wdr72 UTSW 9 74210325 missense probably benign 0.00
R6113:Wdr72 UTSW 9 74152641 missense probably benign 0.02
R6245:Wdr72 UTSW 9 74148223 missense probably damaging 1.00
R6469:Wdr72 UTSW 9 74213361 missense probably benign 0.15
R6726:Wdr72 UTSW 9 74152540 missense possibly damaging 0.54
R6857:Wdr72 UTSW 9 74155041 missense probably damaging 1.00
R6916:Wdr72 UTSW 9 74155039 missense probably benign
R6921:Wdr72 UTSW 9 74210646 missense probably benign
R7092:Wdr72 UTSW 9 74210472 missense not run
R7104:Wdr72 UTSW 9 74148315 missense not run
V7583:Wdr72 UTSW 9 74157270 missense probably damaging 0.96
X0067:Wdr72 UTSW 9 74152502 missense probably damaging 1.00
Posted On2014-05-07