Incidental Mutation 'R9643:Wdr72'
ID 726666
Institutional Source Beutler Lab
Gene Symbol Wdr72
Ensembl Gene ENSMUSG00000044976
Gene Name WD repeat domain 72
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R9643 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 74017608-74190485 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74118041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 930 (P930S)
Ref Sequence ENSEMBL: ENSMUSP00000057320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055879] [ENSMUST00000215440]
AlphaFold D3YYM4
Predicted Effect probably damaging
Transcript: ENSMUST00000055879
AA Change: P930S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: P930S

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: P918S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,211,189 (GRCm39) D641G possibly damaging Het
4921539E11Rik T C 4: 103,092,666 (GRCm39) E272G unknown Het
Abca16 C T 7: 120,065,023 (GRCm39) T560I possibly damaging Het
Adcy3 A G 12: 4,259,455 (GRCm39) R911G probably damaging Het
Adgra2 A G 8: 27,612,031 (GRCm39) T1327A possibly damaging Het
Aldh9a1 T C 1: 167,184,904 (GRCm39) V272A possibly damaging Het
Ankfn1 T A 11: 89,396,167 (GRCm39) H193L probably benign Het
Asb1 A G 1: 91,480,116 (GRCm39) R280G probably benign Het
Atg14 G T 14: 47,788,780 (GRCm39) A191E probably damaging Het
Bcl9 G T 3: 97,112,960 (GRCm39) P1165Q possibly damaging Het
Cdk8 G A 5: 146,235,664 (GRCm39) A264T probably damaging Het
Cep152 G A 2: 125,406,150 (GRCm39) Q1461* probably null Het
Cep170b G T 12: 112,704,045 (GRCm39) W659L probably damaging Het
Cep57l1 T C 10: 41,597,626 (GRCm39) E335G probably damaging Het
Cpt1b T A 15: 89,303,229 (GRCm39) T609S possibly damaging Het
Cyp2c50 A T 19: 40,086,512 (GRCm39) I359F probably damaging Het
Dpf1 T A 7: 29,013,742 (GRCm39) N272K probably damaging Het
Fsip2 A G 2: 82,821,984 (GRCm39) T5906A possibly damaging Het
Gin1 A T 1: 97,712,498 (GRCm39) R220S probably benign Het
Gm30083 T C 14: 33,736,861 (GRCm39) Y32C probably benign Het
Gm45861 A G 8: 27,994,083 (GRCm39) E445G unknown Het
Golga2 T C 2: 32,193,874 (GRCm39) S567P probably damaging Het
Gpr89 A G 3: 96,780,813 (GRCm39) V353A probably damaging Het
Grin2d T C 7: 45,506,948 (GRCm39) K509R possibly damaging Het
Hip1r T C 5: 124,139,319 (GRCm39) I904T probably damaging Het
Ikbke T A 1: 131,187,022 (GRCm39) probably null Het
Il1r1 T A 1: 40,341,532 (GRCm39) C315S probably damaging Het
Ireb2 T A 9: 54,789,730 (GRCm39) F135I possibly damaging Het
Jakmip3 C T 7: 138,621,915 (GRCm39) L272F probably damaging Het
Kntc1 T A 5: 123,949,440 (GRCm39) F1937Y probably damaging Het
Krtap4-16 G A 11: 99,742,271 (GRCm39) T43I unknown Het
Lats2 A G 14: 57,936,875 (GRCm39) V538A possibly damaging Het
Megf8 T A 7: 25,046,907 (GRCm39) W1597R probably damaging Het
Mideas A T 12: 84,219,885 (GRCm39) D356E probably benign Het
Mtus2 A T 5: 148,014,025 (GRCm39) T273S probably benign Het
Nsun6 T A 2: 15,047,106 (GRCm39) E81D probably benign Het
Or13c7 G A 4: 43,855,183 (GRCm39) M291I probably benign Het
Or4c125 A T 2: 89,170,517 (GRCm39) I43K probably damaging Het
Or56a41 A G 7: 104,740,445 (GRCm39) F134L probably benign Het
Or8c10 A G 9: 38,278,912 (GRCm39) I13M probably damaging Het
Or8k23 A G 2: 86,186,408 (GRCm39) F106S probably benign Het
Oxsm T C 14: 16,241,000 (GRCm38) T350A probably damaging Het
Pard3 G A 8: 128,115,900 (GRCm39) R663Q possibly damaging Het
Pcdh15 T A 10: 74,479,335 (GRCm39) I482N probably benign Het
Pcsk2 G A 2: 143,655,501 (GRCm39) D562N probably damaging Het
Pdzk1ip1 T C 4: 114,950,177 (GRCm39) M146T probably benign Het
Plch1 T A 3: 63,660,747 (GRCm39) T279S Het
Plec C T 15: 76,058,177 (GRCm39) R3920Q probably damaging Het
Polr2g A T 19: 8,774,631 (GRCm39) V84E probably damaging Het
Ppm1m C T 9: 106,075,104 (GRCm39) R147H probably damaging Het
Ppp2r2c G T 5: 37,080,383 (GRCm39) V48L probably damaging Het
Pramel25 T A 4: 143,521,855 (GRCm39) C490* probably null Het
Prcp A T 7: 92,524,598 (GRCm39) T18S probably benign Het
Rapsn A G 2: 90,872,268 (GRCm39) S201G probably damaging Het
Rragd A G 4: 33,012,998 (GRCm39) T332A probably benign Het
Scrn2 A G 11: 96,921,342 (GRCm39) D34G probably damaging Het
Serpinb6c T C 13: 34,079,303 (GRCm39) T130A probably benign Het
Setd1b G A 5: 123,298,401 (GRCm39) G1479D probably damaging Het
Shd T A 17: 56,283,268 (GRCm39) L299Q probably damaging Het
Slc5a4b C T 10: 75,945,896 (GRCm39) V55I probably benign Het
Smg1 C A 7: 117,755,933 (GRCm39) R2405L unknown Het
Stxbp2 A T 8: 3,686,392 (GRCm39) M332L Het
Tedc2 A G 17: 24,435,328 (GRCm39) C354R probably benign Het
Tek A T 4: 94,692,523 (GRCm39) R210S possibly damaging Het
Tnk2 T A 16: 32,489,018 (GRCm39) M286K probably damaging Het
Ttc21a G A 9: 119,771,686 (GRCm39) V162I probably benign Het
Usf3 T A 16: 44,042,170 (GRCm39) C2217S possibly damaging Het
Zan A G 5: 137,456,812 (GRCm39) V1308A unknown Het
Zfp521 C T 18: 13,978,922 (GRCm39) R497Q probably damaging Het
Zfp799 T A 17: 33,039,435 (GRCm39) K277M probably damaging Het
Zfp949 C T 9: 88,436,500 (GRCm39) probably benign 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
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
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'- CTGTGCTCCAGAAAAGTTTTGG -3'
(R):5'- GCAGGACATGAGGACATTTCC -3'

Sequencing Primer
(F):5'- TGGACTTGTCAAGTAAATACACAGCC -3'
(R):5'- GGACATGAGGACATTTCCCTAAC -3'
Posted On 2022-10-06