Incidental Mutation 'R5470:Wdr72'
ID 433473
Institutional Source Beutler Lab
Gene Symbol Wdr72
Ensembl Gene ENSMUSG00000044976
Gene Name WD repeat domain 72
Synonyms
MMRRC Submission 043031-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R5470 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 74017608-74190485 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 74046981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 76 (K76*)
Ref Sequence ENSEMBL: ENSMUSP00000149349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055879] [ENSMUST00000215440]
AlphaFold D3YYM4
Predicted Effect probably null
Transcript: ENSMUST00000055879
AA Change: K76*
SMART Domains Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: K76*

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 noncoding transcript
Transcript: ENSMUST00000098564
SMART Domains Protein: ENSMUSP00000096163
Gene: ENSMUSG00000044976

DomainStartEndE-ValueType
WD40 4 45 1.24e0 SMART
WD40 51 97 4.11e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000215440
AA Change: K76*
Meta Mutation Damage Score 0.9717 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency 99% (79/80)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,215,715 (GRCm39) I813F probably damaging Het
Aqr G A 2: 113,988,056 (GRCm39) L169F probably damaging Het
Atp6v1d G A 12: 78,892,058 (GRCm39) R182C probably benign Het
Bcl2l13 G T 6: 120,839,833 (GRCm39) A44S probably benign Het
Brip1 T C 11: 86,039,368 (GRCm39) K389E possibly damaging Het
C530025M09Rik G A 2: 149,673,045 (GRCm39) probably benign Het
Ccdc7b T A 8: 129,799,081 (GRCm39) S53T possibly damaging Het
Chd8 A G 14: 52,450,066 (GRCm39) F154L probably damaging Het
Cop1 A T 1: 159,094,430 (GRCm39) probably benign Het
Cyp2c39 A G 19: 39,501,974 (GRCm39) K121R possibly damaging Het
Cyp3a57 A G 5: 145,309,429 (GRCm39) M256V probably benign Het
Deup1 T C 9: 15,493,916 (GRCm39) probably null Het
Dnah10 A G 5: 124,830,232 (GRCm39) N709D probably benign Het
Dthd1 A G 5: 62,976,109 (GRCm39) Y261C probably damaging Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
En2 C T 5: 28,371,922 (GRCm39) T133M probably benign Het
Endou A G 15: 97,616,836 (GRCm39) F229S probably damaging Het
Etl4 A T 2: 20,534,791 (GRCm39) H79L probably damaging Het
Fah C T 7: 84,242,393 (GRCm39) probably null Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fignl1 T A 11: 11,752,640 (GRCm39) E138D probably benign Het
Fndc3a A G 14: 72,812,008 (GRCm39) L311P possibly damaging Het
Gdf9 T A 11: 53,327,581 (GRCm39) V179E probably benign Het
Gm14129 G T 2: 148,769,737 (GRCm39) noncoding transcript Het
Gorab A G 1: 163,220,078 (GRCm39) I188T probably damaging Het
Gpr152 G A 19: 4,193,128 (GRCm39) C223Y probably damaging Het
Heatr5b A T 17: 79,129,008 (GRCm39) probably null Het
Hsd17b3 G T 13: 64,221,713 (GRCm39) T104N probably damaging Het
Il6ra C T 3: 89,793,302 (GRCm39) V283M probably benign Het
Klk1b16 A T 7: 43,786,755 (GRCm39) I5F probably damaging Het
Krt74 G A 15: 101,662,900 (GRCm39) noncoding transcript Het
Lrch3 T A 16: 32,818,960 (GRCm39) N650K probably damaging Het
Ly96 A T 1: 16,779,710 (GRCm39) E126D probably benign Het
Mgarp C A 3: 51,298,706 (GRCm39) R66L possibly damaging Het
Naalad2 T A 9: 18,242,147 (GRCm39) T586S probably damaging Het
Ndufaf3 T C 9: 108,443,643 (GRCm39) probably benign Het
Neb A G 2: 52,139,450 (GRCm39) M3055T possibly damaging Het
Neo1 G T 9: 58,838,350 (GRCm39) A478D probably damaging Het
Nmrk1 A T 19: 18,617,248 (GRCm39) probably null Het
Nsl1 T C 1: 190,812,737 (GRCm39) M184T probably benign Het
Nup133 T C 8: 124,657,705 (GRCm39) N410S probably benign Het
Opalin A G 19: 41,054,970 (GRCm39) S75P probably benign Het
Or1e17 T C 11: 73,831,696 (GRCm39) I208T probably benign Het
Or3a4 A G 11: 73,944,733 (GRCm39) I284T possibly damaging Het
Or51ag1 T G 7: 103,155,716 (GRCm39) I146L probably benign Het
Palb2 C A 7: 121,713,574 (GRCm39) C903F probably damaging Het
Pcm1 T A 8: 41,740,720 (GRCm39) W989R probably damaging Het
Pfkfb4 T A 9: 108,856,661 (GRCm39) I389N probably damaging Het
Pitrm1 T C 13: 6,603,306 (GRCm39) C119R probably benign Het
Plekha1 T C 7: 130,510,106 (GRCm39) V45A probably damaging Het
Pold2 G A 11: 5,823,048 (GRCm39) P376S probably damaging Het
Rcan2 A G 17: 44,147,174 (GRCm39) D4G probably benign Het
Slc12a1 A T 2: 125,012,634 (GRCm39) T299S probably damaging Het
Slc22a29 A T 19: 8,138,880 (GRCm39) H527Q probably benign Het
Slc22a8 G A 19: 8,585,234 (GRCm39) R261H probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slco4a1 T C 2: 180,115,907 (GRCm39) F681S probably benign Het
Sorcs2 A T 5: 36,188,527 (GRCm39) H860Q probably benign Het
Strn A T 17: 78,964,374 (GRCm39) H530Q probably benign Het
Tex14 A G 11: 87,442,430 (GRCm39) R179G probably damaging Het
Tjp3 T C 10: 81,115,381 (GRCm39) D350G probably benign Het
Tnrc6b G T 15: 80,800,912 (GRCm39) R1406L possibly damaging Het
Tnxb A G 17: 34,935,947 (GRCm39) D2666G probably null Het
Ttn A T 2: 76,560,208 (GRCm39) Y27652N probably benign Het
Utp20 T A 10: 88,653,758 (GRCm39) E287D probably benign Het
Vmn1r45 T C 6: 89,910,698 (GRCm39) I91V probably benign Het
Zfp689 C T 7: 127,043,425 (GRCm39) A402T probably damaging Het
Zfpm1 A G 8: 123,060,532 (GRCm39) E207G probably damaging Het
Zhx2 G T 15: 57,686,470 (GRCm39) R613L possibly damaging 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
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'- GCTTACCTGAAACTTGTGCAC -3'
(R):5'- GGTTGCTGGGATTCTAACACAG -3'

Sequencing Primer
(F):5'- CTTGTGCACATAAAACCTCTTAGC -3'
(R):5'- TGCTGGGATTCTAACACAGGAAATC -3'
Posted On 2016-10-06