Incidental Mutation 'IGL02171:Wdr72'
ID283553
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: 0.206) question?
Stock #IGL02171
Quality Score
Status
Chromosome9
Chromosomal Location74110356-74283308 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 74210534 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 843 (M843L)
Ref Sequence ENSEMBL: ENSMUSP00000149349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055879] [ENSMUST00000215440]
Predicted Effect possibly damaging
Transcript: ENSMUST00000055879
AA Change: M855L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: M855L

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 possibly damaging
Transcript: ENSMUST00000215440
AA Change: M843L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,944,256 I772M probably benign Het
Abcg4 C A 9: 44,275,009 probably benign Het
Abo A G 2: 26,848,957 I18T probably benign Het
AI661453 C T 17: 47,466,996 probably benign Het
Apbb1 A G 7: 105,559,126 probably benign Het
Atp8a1 G A 5: 67,738,465 S557L probably damaging Het
Bora G T 14: 99,047,322 D3Y probably damaging Het
Cfap46 T C 7: 139,667,056 D323G possibly damaging Het
Dcdc2a T A 13: 25,056,434 V55E probably damaging Het
Dync1i1 G T 6: 5,969,498 R441L probably damaging Het
Ecd T A 14: 20,320,827 Y608F probably damaging Het
Eif4g3 A G 4: 138,126,589 T489A probably benign Het
Erlin1 A G 19: 44,049,116 probably benign Het
Fras1 A G 5: 96,735,181 E2524G probably benign Het
Garem1 C T 18: 21,129,241 D839N probably damaging Het
Gdap1l1 T A 2: 163,447,550 V145E possibly damaging Het
Gm1966 G T 7: 106,601,341 noncoding transcript Het
Hydin A T 8: 110,451,958 K1062* probably null Het
Igkv4-92 T C 6: 68,755,589 D2G probably benign Het
Lemd3 T A 10: 120,933,622 probably benign Het
Mbl1 C T 14: 41,154,498 probably benign Het
Mdh1 T C 11: 21,557,438 probably benign Het
Mms19 A G 19: 41,957,139 probably null Het
Nrxn3 C A 12: 89,193,163 P20T probably damaging Het
Nudt1 A G 5: 140,337,593 E100G probably damaging Het
Olfr1006 T A 2: 85,674,941 D70V probably damaging Het
Olfr1391 T A 11: 49,328,035 F208Y possibly damaging Het
Palb2 A C 7: 122,107,586 S1083A probably damaging Het
Phc2 T G 4: 128,711,065 F198C probably damaging Het
Pkhd1l1 A G 15: 44,516,146 D1056G possibly damaging Het
Psg17 A G 7: 18,818,787 Y188H probably damaging Het
Scn1a T A 2: 66,273,199 I1906F probably damaging Het
Sidt2 C A 9: 45,952,770 R150L possibly damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Supt3 T C 17: 45,003,156 I144T probably damaging Het
Trip4 A G 9: 65,881,050 S38P probably damaging Het
Vmn1r173 G T 7: 23,702,896 M185I probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Zfp595 T A 13: 67,316,655 N518Y possibly damaging 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
IGL01938:Wdr72 APN 9 74148774 missense probably benign 0.25
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
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 probably damaging 1.00
R7104:Wdr72 UTSW 9 74148315 missense probably damaging 1.00
R7560:Wdr72 UTSW 9 74210126 missense probably damaging 1.00
R7684:Wdr72 UTSW 9 74147010 missense probably damaging 1.00
R8025:Wdr72 UTSW 9 74143499 missense probably benign 0.00
V7583:Wdr72 UTSW 9 74157270 missense probably damaging 0.96
X0067:Wdr72 UTSW 9 74152502 missense probably damaging 1.00
Z1177:Wdr72 UTSW 9 74210536 missense probably damaging 0.99
Posted On2015-04-16