Incidental Mutation 'R0241:Wdr3'
ID 59471
Institutional Source Beutler Lab
Gene Symbol Wdr3
Ensembl Gene ENSMUSG00000033285
Gene Name WD repeat domain 3
Synonyms D030020G18Rik
MMRRC Submission 038479-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R0241 (G1)
Quality Score 131
Status Validated
Chromosome 3
Chromosomal Location 100045496-100069723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100052973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 593 (V593A)
Ref Sequence ENSEMBL: ENSMUSP00000060613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052120] [ENSMUST00000164539]
AlphaFold Q8BHB4
Predicted Effect probably damaging
Transcript: ENSMUST00000052120
AA Change: V593A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060613
Gene: ENSMUSG00000033285
AA Change: V593A

DomainStartEndE-ValueType
Blast:WD40 12 51 3e-16 BLAST
WD40 54 93 3.14e-6 SMART
WD40 96 135 1.04e-6 SMART
WD40 138 177 1.15e-4 SMART
WD40 180 219 4.24e-3 SMART
low complexity region 225 239 N/A INTRINSIC
Blast:WD40 267 307 3e-18 BLAST
low complexity region 316 331 N/A INTRINSIC
WD40 403 441 8.49e-3 SMART
WD40 444 481 1.71e1 SMART
WD40 484 523 2.1e-7 SMART
WD40 538 576 1.2e-2 SMART
WD40 579 618 2.45e-8 SMART
WD40 621 660 5.47e-6 SMART
WD40 663 702 1.03e-10 SMART
low complexity region 711 724 N/A INTRINSIC
Pfam:Utp12 803 906 6.4e-25 PFAM
low complexity region 927 936 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146989
SMART Domains Protein: ENSMUSP00000134945
Gene: ENSMUSG00000033285

DomainStartEndE-ValueType
Blast:WD40 12 51 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000164539
SMART Domains Protein: ENSMUSP00000134066
Gene: ENSMUSG00000027867

DomainStartEndE-ValueType
low complexity region 155 170 N/A INTRINSIC
low complexity region 384 400 N/A INTRINSIC
low complexity region 876 887 N/A INTRINSIC
coiled coil region 909 964 N/A INTRINSIC
coiled coil region 1079 1120 N/A INTRINSIC
low complexity region 1179 1190 N/A INTRINSIC
low complexity region 1192 1205 N/A INTRINSIC
low complexity region 1209 1220 N/A INTRINSIC
low complexity region 1223 1238 N/A INTRINSIC
low complexity region 1394 1405 N/A INTRINSIC
low complexity region 1931 1942 N/A INTRINSIC
Pfam:PapD-like 2171 2277 1.2e-15 PFAM
Meta Mutation Damage Score 0.5610 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T A 6: 39,560,752 (GRCm39) V380E probably benign Het
Anapc1 A T 2: 128,470,549 (GRCm39) M1527K possibly damaging Het
Arfgef3 T A 10: 18,474,962 (GRCm39) I1575F probably damaging Het
Atp4a G T 7: 30,416,560 (GRCm39) G446C probably benign Het
Bicra A T 7: 15,709,070 (GRCm39) M1188K probably damaging Het
Brd7 G A 8: 89,072,478 (GRCm39) R331W probably benign Het
Cactin A G 10: 81,158,486 (GRCm39) T151A probably benign Het
Cadps G A 14: 12,376,675 (GRCm38) T1274M probably damaging Het
Catsper3 T C 13: 55,952,667 (GRCm39) M175T probably damaging Het
Chd5 A G 4: 152,450,589 (GRCm39) D605G probably damaging Het
Chst12 G A 5: 140,510,054 (GRCm39) R227H possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cimap1d C T 10: 79,480,564 (GRCm39) probably null Het
Cobl A T 11: 12,204,524 (GRCm39) V644E probably benign Het
Ddx31 A G 2: 28,738,303 (GRCm39) T155A probably damaging Het
Dnah3 T C 7: 119,521,953 (GRCm39) Q4069R probably damaging Het
Dnah8 T C 17: 30,984,653 (GRCm39) I3117T probably damaging Het
Doc2b A G 11: 75,663,387 (GRCm39) V355A probably damaging Het
Dock10 A T 1: 80,556,340 (GRCm39) S578T probably benign Het
Duox1 T C 2: 122,163,878 (GRCm39) probably benign Het
Epb41l5 T C 1: 119,495,509 (GRCm39) probably null Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fcer2a A G 8: 3,738,796 (GRCm39) probably null Het
Fmnl1 G A 11: 103,072,996 (GRCm39) probably null Het
Fry A T 5: 150,183,811 (GRCm39) probably benign Het
Git2 T C 5: 114,871,290 (GRCm39) E208G probably damaging Het
Hs6st3 T C 14: 119,376,232 (GRCm39) F136L probably benign Het
Hydin G A 8: 111,124,655 (GRCm39) V555I probably benign Het
Kcns1 A T 2: 164,010,300 (GRCm39) I153N probably damaging Het
Kmt2b A G 7: 30,276,494 (GRCm39) L1726S probably damaging Het
Loxl3 A G 6: 83,027,114 (GRCm39) D615G probably damaging Het
Negr1 T A 3: 156,914,036 (GRCm39) probably benign Het
Nfasc C A 1: 132,564,731 (GRCm39) A70S probably benign Het
Or4d1 T A 11: 87,804,860 (GRCm39) N291Y probably damaging Het
Or4p21 A T 2: 88,276,889 (GRCm39) M131K possibly damaging Het
Or52n4 A G 7: 104,294,450 (GRCm39) M41T probably benign Het
Or5g29 A G 2: 85,421,154 (GRCm39) K90R probably benign Het
Otud7a T C 7: 63,346,992 (GRCm39) probably benign Het
Pacs2 T C 12: 113,032,890 (GRCm39) probably benign Het
Pde7b A G 10: 20,311,962 (GRCm39) C239R probably damaging Het
Pdzd2 A T 15: 12,368,027 (GRCm39) L2654Q probably damaging Het
Pgap1 T C 1: 54,575,110 (GRCm39) probably null Het
Proz T A 8: 13,115,356 (GRCm39) M124K probably benign Het
Raet1d A G 10: 22,247,328 (GRCm39) T135A probably benign Het
Rapgef1 A G 2: 29,592,682 (GRCm39) N558S possibly damaging Het
Rpl7 C G 1: 16,173,446 (GRCm39) G101A possibly damaging Het
Sec14l1 G A 11: 117,037,924 (GRCm39) probably benign Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Simc1 G T 13: 54,698,338 (GRCm39) L1319F probably damaging Het
Sspo A G 6: 48,438,429 (GRCm39) E1499G possibly damaging Het
Tango6 C T 8: 107,473,993 (GRCm39) probably benign Het
Tas2r118 T C 6: 23,969,338 (GRCm39) Y241C probably damaging Het
Tbck A G 3: 132,430,636 (GRCm39) E344G probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Thop1 T A 10: 80,916,079 (GRCm39) probably benign Het
Tmbim7 A T 5: 3,716,866 (GRCm39) Y66F probably benign Het
Tmc8 C T 11: 117,677,207 (GRCm39) probably benign Het
Tnfrsf19 A G 14: 61,211,041 (GRCm39) S216P possibly damaging Het
Trappc2l A G 8: 123,341,132 (GRCm39) probably benign Het
Trim67 A G 8: 125,549,929 (GRCm39) R520G probably damaging Het
Ubp1 T A 9: 113,795,655 (GRCm39) probably null Het
Vil1 T C 1: 74,465,853 (GRCm39) L548P probably damaging Het
Wdr5 A G 2: 27,423,025 (GRCm39) Y243C probably damaging Het
Zan T C 5: 137,420,084 (GRCm39) T2858A unknown Het
Zbtb37 A T 1: 160,847,939 (GRCm39) V356E probably benign Het
Zfp36 C T 7: 28,077,759 (GRCm39) V50I probably damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Other mutations in Wdr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Wdr3 APN 3 100,055,424 (GRCm39) missense probably damaging 1.00
IGL00706:Wdr3 APN 3 100,055,416 (GRCm39) unclassified probably benign
IGL01391:Wdr3 APN 3 100,054,105 (GRCm39) unclassified probably benign
IGL02008:Wdr3 APN 3 100,058,298 (GRCm39) missense probably damaging 0.97
IGL02136:Wdr3 APN 3 100,046,041 (GRCm39) nonsense probably null
IGL02215:Wdr3 APN 3 100,054,016 (GRCm39) critical splice donor site probably null
IGL02505:Wdr3 APN 3 100,059,290 (GRCm39) missense probably benign
IGL03412:Wdr3 APN 3 100,059,293 (GRCm39) missense probably benign 0.00
R0241:Wdr3 UTSW 3 100,052,973 (GRCm39) missense probably damaging 1.00
R0369:Wdr3 UTSW 3 100,063,734 (GRCm39) nonsense probably null
R0865:Wdr3 UTSW 3 100,060,112 (GRCm39) unclassified probably benign
R0966:Wdr3 UTSW 3 100,068,385 (GRCm39) missense probably damaging 0.99
R1168:Wdr3 UTSW 3 100,049,535 (GRCm39) missense probably benign 0.11
R1612:Wdr3 UTSW 3 100,058,515 (GRCm39) splice site probably benign
R1768:Wdr3 UTSW 3 100,061,186 (GRCm39) missense probably benign
R2060:Wdr3 UTSW 3 100,067,213 (GRCm39) splice site probably null
R3793:Wdr3 UTSW 3 100,059,281 (GRCm39) missense probably benign 0.02
R3888:Wdr3 UTSW 3 100,061,222 (GRCm39) missense probably benign
R4410:Wdr3 UTSW 3 100,047,543 (GRCm39) missense probably benign
R4596:Wdr3 UTSW 3 100,060,183 (GRCm39) missense possibly damaging 0.95
R4609:Wdr3 UTSW 3 100,047,516 (GRCm39) missense probably damaging 1.00
R4817:Wdr3 UTSW 3 100,053,861 (GRCm39) missense possibly damaging 0.71
R5016:Wdr3 UTSW 3 100,048,936 (GRCm39) intron probably benign
R5024:Wdr3 UTSW 3 100,062,252 (GRCm39) missense probably benign
R5411:Wdr3 UTSW 3 100,050,300 (GRCm39) missense probably damaging 1.00
R5430:Wdr3 UTSW 3 100,064,643 (GRCm39) missense possibly damaging 0.88
R5902:Wdr3 UTSW 3 100,051,807 (GRCm39) unclassified probably benign
R6177:Wdr3 UTSW 3 100,068,468 (GRCm39) missense probably damaging 0.97
R6445:Wdr3 UTSW 3 100,063,719 (GRCm39) missense possibly damaging 0.65
R6516:Wdr3 UTSW 3 100,052,992 (GRCm39) missense probably damaging 1.00
R6624:Wdr3 UTSW 3 100,051,642 (GRCm39) missense probably damaging 1.00
R6747:Wdr3 UTSW 3 100,046,040 (GRCm39) missense probably damaging 1.00
R6813:Wdr3 UTSW 3 100,046,041 (GRCm39) nonsense probably null
R6899:Wdr3 UTSW 3 100,057,217 (GRCm39) missense possibly damaging 0.90
R7024:Wdr3 UTSW 3 100,062,313 (GRCm39) missense probably benign 0.00
R7509:Wdr3 UTSW 3 100,058,503 (GRCm39) missense probably benign 0.03
R8008:Wdr3 UTSW 3 100,062,252 (GRCm39) missense probably benign
R8062:Wdr3 UTSW 3 100,049,810 (GRCm39) missense probably benign
R8241:Wdr3 UTSW 3 100,057,259 (GRCm39) missense probably damaging 1.00
R8840:Wdr3 UTSW 3 100,057,253 (GRCm39) missense probably damaging 0.99
R8944:Wdr3 UTSW 3 100,057,259 (GRCm39) missense probably damaging 1.00
R9235:Wdr3 UTSW 3 100,054,023 (GRCm39) missense probably benign 0.18
R9314:Wdr3 UTSW 3 100,050,288 (GRCm39) missense probably benign 0.00
R9544:Wdr3 UTSW 3 100,050,752 (GRCm39) nonsense probably null
X0012:Wdr3 UTSW 3 100,052,946 (GRCm39) splice site probably null
Z1088:Wdr3 UTSW 3 100,051,660 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCCACTGTAGGTGGTTGAAAGGAC -3'
(R):5'- TGCTGCGAGTTATTGCTCAGGAC -3'

Sequencing Primer
(F):5'- GTAGGTGGTTGAAAGGACTTTAATAC -3'
(R):5'- TAGGGTCTCCATAGTGGACAC -3'
Posted On 2013-07-11