Incidental Mutation 'IGL00838:Wdr72'
ID 14854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr72
Ensembl Gene ENSMUSG00000044976
Gene Name WD repeat domain 72
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL00838
Quality Score
Status
Chromosome 9
Chromosomal Location 74017608-74190485 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74062411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 519 (E519V)
Ref Sequence ENSEMBL: ENSMUSP00000149349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055879] [ENSMUST00000215440]
AlphaFold D3YYM4
Predicted Effect probably damaging
Transcript: ENSMUST00000055879
AA Change: E531V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: E531V

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 damaging
Transcript: ENSMUST00000215440
AA Change: E519V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 C A 1: 93,330,479 (GRCm39) N834K possibly damaging Het
Armc10 T A 5: 21,866,579 (GRCm39) V281E probably damaging Het
Baat A T 4: 49,490,352 (GRCm39) M244K probably damaging Het
Cryz T A 3: 154,324,112 (GRCm39) C166S probably damaging Het
D430041D05Rik T A 2: 104,031,648 (GRCm39) K1649N probably damaging Het
Dennd5b T C 6: 148,906,861 (GRCm39) probably benign Het
Dock8 A T 19: 25,152,823 (GRCm39) R1630* probably null Het
Gstm5 A G 3: 107,804,874 (GRCm39) N122S probably benign Het
Klra5 C A 6: 129,888,322 (GRCm39) G35C possibly damaging Het
Klrb1f G A 6: 129,031,279 (GRCm39) V159I possibly damaging Het
Mgl2 A T 11: 70,025,038 (GRCm39) M14L probably benign Het
Mob1a C T 6: 83,315,313 (GRCm39) R78C possibly damaging Het
Pigo C T 4: 43,021,767 (GRCm39) A392T possibly damaging Het
Polr3a A T 14: 24,525,931 (GRCm39) N436K probably benign Het
Prokr1 T C 6: 87,565,675 (GRCm39) T57A possibly damaging Het
Ror1 T G 4: 100,190,940 (GRCm39) V99G probably damaging Het
Ryr2 A T 13: 11,583,389 (GRCm39) I4755N probably damaging Het
Senp5 T C 16: 31,807,991 (GRCm39) D394G probably damaging Het
Skic3 T C 13: 76,282,910 (GRCm39) L744P probably damaging Het
Speg A G 1: 75,387,034 (GRCm39) I1318V possibly damaging Het
Syt6 T A 3: 103,532,942 (GRCm39) M357K probably damaging Het
Tex11 A T X: 100,015,724 (GRCm39) I328N possibly damaging Het
Vnn1 T C 10: 23,776,677 (GRCm39) F343L possibly damaging Het
Other mutations in Wdr72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01385:Wdr72 APN 9 74,086,788 (GRCm39) splice site probably benign
IGL01512:Wdr72 APN 9 74,056,041 (GRCm39) missense probably benign 0.02
IGL01544:Wdr72 APN 9 74,056,007 (GRCm39) missense probably damaging 1.00
IGL01938:Wdr72 APN 9 74,056,056 (GRCm39) missense probably benign 0.25
IGL02090:Wdr72 APN 9 74,062,212 (GRCm39) missense possibly damaging 0.87
IGL02121:Wdr72 APN 9 74,189,011 (GRCm39) utr 3 prime probably benign
IGL02140:Wdr72 APN 9 74,117,505 (GRCm39) missense probably benign 0.40
IGL02171:Wdr72 APN 9 74,117,816 (GRCm39) missense possibly damaging 0.94
IGL02208:Wdr72 APN 9 74,064,581 (GRCm39) missense probably damaging 1.00
IGL02936:Wdr72 APN 9 74,059,862 (GRCm39) missense probably damaging 1.00
IGL02979:Wdr72 APN 9 74,086,838 (GRCm39) missense probably damaging 1.00
IGL03263:Wdr72 APN 9 74,064,711 (GRCm39) missense probably damaging 1.00
Arresting UTSW 9 74,086,783 (GRCm39) splice site probably benign
R0332_Wdr72_931 UTSW 9 74,064,534 (GRCm39) critical splice acceptor site probably null
R2036_Wdr72_658 UTSW 9 74,058,876 (GRCm39) missense probably damaging 1.00
F5770:Wdr72 UTSW 9 74,064,552 (GRCm39) missense probably damaging 0.96
R0107:Wdr72 UTSW 9 74,117,715 (GRCm39) missense probably damaging 1.00
R0332:Wdr72 UTSW 9 74,064,534 (GRCm39) critical splice acceptor site probably null
R0420:Wdr72 UTSW 9 74,118,039 (GRCm39) missense possibly damaging 0.75
R0536:Wdr72 UTSW 9 74,064,690 (GRCm39) missense probably damaging 1.00
R0565:Wdr72 UTSW 9 74,124,588 (GRCm39) missense probably benign 0.34
R0755:Wdr72 UTSW 9 74,052,376 (GRCm39) missense probably benign 0.05
R1183:Wdr72 UTSW 9 74,086,867 (GRCm39) missense probably benign 0.00
R1636:Wdr72 UTSW 9 74,086,907 (GRCm39) missense probably benign 0.00
R1668:Wdr72 UTSW 9 74,117,444 (GRCm39) missense probably damaging 0.99
R1687:Wdr72 UTSW 9 74,117,481 (GRCm39) missense probably benign 0.13
R1813:Wdr72 UTSW 9 74,183,298 (GRCm39) missense possibly damaging 0.85
R1835:Wdr72 UTSW 9 74,058,899 (GRCm39) missense probably damaging 1.00
R2036:Wdr72 UTSW 9 74,058,876 (GRCm39) missense probably damaging 1.00
R2113:Wdr72 UTSW 9 74,052,454 (GRCm39) missense probably benign 0.07
R2331:Wdr72 UTSW 9 74,055,608 (GRCm39) missense probably damaging 1.00
R2369:Wdr72 UTSW 9 74,117,457 (GRCm39) missense possibly damaging 0.77
R3973:Wdr72 UTSW 9 74,125,979 (GRCm39) missense probably benign
R4021:Wdr72 UTSW 9 74,058,875 (GRCm39) missense probably benign 0.18
R4596:Wdr72 UTSW 9 74,058,887 (GRCm39) missense probably benign 0.00
R4665:Wdr72 UTSW 9 74,117,306 (GRCm39) missense probably benign 0.10
R4694:Wdr72 UTSW 9 74,086,837 (GRCm39) missense probably damaging 1.00
R4894:Wdr72 UTSW 9 74,117,843 (GRCm39) missense probably benign 0.00
R5027:Wdr72 UTSW 9 74,053,258 (GRCm39) missense probably damaging 1.00
R5269:Wdr72 UTSW 9 74,064,653 (GRCm39) missense probably damaging 1.00
R5432:Wdr72 UTSW 9 74,183,228 (GRCm39) missense probably damaging 1.00
R5470:Wdr72 UTSW 9 74,046,981 (GRCm39) nonsense probably null
R5717:Wdr72 UTSW 9 74,055,487 (GRCm39) missense probably damaging 1.00
R5793:Wdr72 UTSW 9 74,117,625 (GRCm39) missense probably benign 0.02
R5963:Wdr72 UTSW 9 74,052,310 (GRCm39) missense probably damaging 1.00
R6108:Wdr72 UTSW 9 74,058,950 (GRCm39) missense probably damaging 0.97
R6111:Wdr72 UTSW 9 74,117,607 (GRCm39) missense probably benign 0.00
R6113:Wdr72 UTSW 9 74,059,923 (GRCm39) missense probably benign 0.02
R6245:Wdr72 UTSW 9 74,055,505 (GRCm39) missense probably damaging 1.00
R6469:Wdr72 UTSW 9 74,120,643 (GRCm39) missense probably benign 0.15
R6726:Wdr72 UTSW 9 74,059,822 (GRCm39) missense possibly damaging 0.54
R6857:Wdr72 UTSW 9 74,062,323 (GRCm39) missense probably damaging 1.00
R6916:Wdr72 UTSW 9 74,062,321 (GRCm39) missense probably benign
R6921:Wdr72 UTSW 9 74,117,928 (GRCm39) missense probably benign
R7092:Wdr72 UTSW 9 74,117,754 (GRCm39) missense probably damaging 1.00
R7104:Wdr72 UTSW 9 74,055,597 (GRCm39) missense probably damaging 1.00
R7560:Wdr72 UTSW 9 74,117,408 (GRCm39) missense probably damaging 1.00
R7684:Wdr72 UTSW 9 74,054,292 (GRCm39) missense probably damaging 1.00
R8025:Wdr72 UTSW 9 74,050,781 (GRCm39) missense probably benign 0.00
R8035:Wdr72 UTSW 9 74,086,783 (GRCm39) splice site probably benign
R8079:Wdr72 UTSW 9 74,126,054 (GRCm39) missense probably damaging 0.99
R8142:Wdr72 UTSW 9 74,046,949 (GRCm39) missense probably damaging 1.00
R8166:Wdr72 UTSW 9 74,120,610 (GRCm39) missense probably benign
R8266:Wdr72 UTSW 9 74,050,774 (GRCm39) missense probably damaging 1.00
R8465:Wdr72 UTSW 9 74,059,730 (GRCm39) missense possibly damaging 0.93
R8968:Wdr72 UTSW 9 74,059,729 (GRCm39) missense probably benign 0.31
R9074:Wdr72 UTSW 9 74,125,902 (GRCm39) missense possibly damaging 0.86
R9336:Wdr72 UTSW 9 74,117,292 (GRCm39) missense probably damaging 1.00
R9643:Wdr72 UTSW 9 74,118,041 (GRCm39) missense probably damaging 1.00
V7583:Wdr72 UTSW 9 74,064,552 (GRCm39) missense probably damaging 0.96
X0067:Wdr72 UTSW 9 74,059,784 (GRCm39) missense probably damaging 1.00
Z1177:Wdr72 UTSW 9 74,117,818 (GRCm39) missense probably damaging 0.99
Posted On 2012-12-06