Incidental Mutation 'R0565:Wdr72'
ID 46129
Institutional Source Beutler Lab
Gene Symbol Wdr72
Ensembl Gene ENSMUSG00000044976
Gene Name WD repeat domain 72
Synonyms
MMRRC Submission 038756-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R0565 (G1)
Quality Score 161
Status Validated
Chromosome 9
Chromosomal Location 74017608-74190485 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74124588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 980 (D980G)
Ref Sequence ENSEMBL: ENSMUSP00000149349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055879] [ENSMUST00000215440]
AlphaFold D3YYM4
Predicted Effect probably benign
Transcript: ENSMUST00000055879
AA Change: D992G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: D992G

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: D980G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.2805 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.6%
Validation Efficiency 100% (73/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,682,200 (GRCm39) H1010L probably benign Het
A2ml1 C A 6: 128,545,706 (GRCm39) E474* probably null Het
Agtr1b T C 3: 20,369,838 (GRCm39) H256R probably damaging Het
Amacr C T 15: 10,982,032 (GRCm39) A46V possibly damaging Het
Atosb A T 4: 43,034,647 (GRCm39) probably benign Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Caskin2 T C 11: 115,691,842 (GRCm39) E981G probably damaging Het
Ccdc88a A G 11: 29,411,042 (GRCm39) probably benign Het
Cd180 A G 13: 102,839,382 (GRCm39) probably benign Het
Cd200l1 T A 16: 45,264,536 (GRCm39) probably benign Het
Cemip G A 7: 83,613,318 (GRCm39) H627Y probably damaging Het
Cep131 G T 11: 119,964,588 (GRCm39) H289Q probably damaging Het
Cep350 G A 1: 155,836,941 (GRCm39) probably benign Het
Cfap52 A T 11: 67,840,425 (GRCm39) C169S probably benign Het
Cps1 A T 1: 67,205,608 (GRCm39) T544S possibly damaging Het
Cul7 T C 17: 46,962,929 (GRCm39) S187P probably damaging Het
Dhx40 C A 11: 86,661,993 (GRCm39) R688L probably damaging Het
E330034G19Rik C A 14: 24,356,985 (GRCm39) Q174K probably benign Het
Efna5 T C 17: 63,188,031 (GRCm39) Y32C probably damaging Het
Ethe1 A G 7: 24,307,314 (GRCm39) H176R probably benign Het
Exoc3 A G 13: 74,330,394 (GRCm39) probably null Het
Fam135b T A 15: 71,362,686 (GRCm39) N232Y possibly damaging Het
Fndc9 C T 11: 46,128,984 (GRCm39) L168F probably damaging Het
Fpr-rs3 G A 17: 20,844,283 (GRCm39) A286V probably damaging Het
Immt T A 6: 71,823,467 (GRCm39) probably benign Het
Ipo7 T C 7: 109,648,800 (GRCm39) probably benign Het
Ipo8 A T 6: 148,688,221 (GRCm39) L747H probably damaging Het
Ireb2 A T 9: 54,807,267 (GRCm39) N610Y probably damaging Het
Irs2 A G 8: 11,054,592 (GRCm39) V1280A probably damaging Het
Kcnj3 T A 2: 55,485,276 (GRCm39) M458K probably benign Het
Kl A G 5: 150,904,409 (GRCm39) K387R possibly damaging Het
L3mbtl2 C A 15: 81,568,487 (GRCm39) probably benign Het
Lamb1 A C 12: 31,348,914 (GRCm39) I649L probably benign Het
Lipm A C 19: 34,093,906 (GRCm39) L274F probably benign Het
Lrfn3 A G 7: 30,060,216 (GRCm39) V3A probably benign Het
Lrrc8c A C 5: 105,754,894 (GRCm39) D223A probably damaging Het
Ltn1 C A 16: 87,212,898 (GRCm39) K554N probably benign Het
Mertk T C 2: 128,613,403 (GRCm39) I473T probably benign Het
Mfsd12 C A 10: 81,197,243 (GRCm39) N245K probably benign Het
Mmp16 A G 4: 17,987,705 (GRCm39) D89G probably damaging Het
Myo5a T A 9: 75,087,394 (GRCm39) N1083K probably benign Het
Ncapd3 C T 9: 26,999,294 (GRCm39) A1290V probably benign Het
Nefm A G 14: 68,362,070 (GRCm39) S65P probably damaging Het
Nt5c2 C T 19: 46,886,064 (GRCm39) R220H probably damaging Het
Or4c102 T A 2: 88,422,353 (GRCm39) D68E probably benign Het
Osbpl1a A T 18: 12,892,501 (GRCm39) S438R probably damaging Het
Pcdhb5 T C 18: 37,453,820 (GRCm39) S67P possibly damaging Het
Per3 A T 4: 151,118,409 (GRCm39) I228N probably damaging Het
Pnpla7 T G 2: 24,870,129 (GRCm39) probably benign Het
Ppp1r15b G T 1: 133,064,391 (GRCm39) probably benign Het
Psmd2 G T 16: 20,479,176 (GRCm39) L678F probably null Het
Ptch2 A G 4: 116,963,340 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,312,158 (GRCm39) D959E probably benign Het
Rph3al C T 11: 75,724,227 (GRCm39) probably null Het
Sec31b T A 19: 44,512,992 (GRCm39) E499V probably damaging Het
Sel1l T C 12: 91,778,663 (GRCm39) I667M probably benign Het
Sel1l C A 12: 91,780,719 (GRCm39) V641L possibly damaging Het
Slc7a1 T A 5: 148,288,879 (GRCm39) I123F probably damaging Het
Smarca2 G A 19: 26,659,275 (GRCm39) R855Q possibly damaging Het
Sphk1 G T 11: 116,427,184 (GRCm39) probably benign Het
Spink12 C A 18: 44,237,755 (GRCm39) S11* probably null Het
Sstr2 A T 11: 113,516,445 (GRCm39) I342F probably benign Het
Stxbp1 T C 2: 32,709,860 (GRCm39) T78A probably benign Het
Trim11 T A 11: 58,881,410 (GRCm39) S434R probably damaging Het
Ubr2 T C 17: 47,266,812 (GRCm39) E1113G probably damaging Het
Upb1 T A 10: 75,264,188 (GRCm39) probably benign Het
Vit T A 17: 78,932,266 (GRCm39) C458S probably damaging Het
Vmn1r58 T C 7: 5,414,165 (GRCm39) I22V probably benign Het
Vps25 T C 11: 101,149,731 (GRCm39) probably benign Het
Wbp2 G T 11: 115,973,211 (GRCm39) D65E possibly damaging Het
Xkr8 A C 4: 132,458,228 (GRCm39) probably null Het
Other mutations in Wdr72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Wdr72 APN 9 74,062,411 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGCGGAATCATACTTCCTGAATGGC -3'
(R):5'- AGGATGAACTCACCTCCTCTGGTC -3'

Sequencing Primer
(F):5'- TCCTGAATGGCTGAACCTGAG -3'
(R):5'- CATCAGTATGGTTTATCAGACTCCTG -3'
Posted On 2013-06-11