Incidental Mutation 'IGL00420:Wdr3'
ID 6806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr3
Ensembl Gene ENSMUSG00000033285
Gene Name WD repeat domain 3
Synonyms D030020G18Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # IGL00420
Quality Score
Status
Chromosome 3
Chromosomal Location 100045496-100069723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100055424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 506 (D506E)
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: D506E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060613
Gene: ENSMUSG00000033285
AA Change: D506E

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: 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
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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp A T 13: 41,931,078 (GRCm39) S170T probably benign Het
Cep55 C A 19: 38,061,887 (GRCm39) Q443K probably damaging Het
Ces1c T C 8: 93,833,301 (GRCm39) E388G probably benign Het
Chd9 T C 8: 91,752,020 (GRCm39) S1753P possibly damaging Het
Cse1l T A 2: 166,769,724 (GRCm39) I343N probably damaging Het
Ctif T G 18: 75,570,247 (GRCm39) M551L possibly damaging Het
Cyp2c29 A G 19: 39,310,143 (GRCm39) probably benign Het
Filip1 G A 9: 79,725,226 (GRCm39) T1131I probably damaging Het
Gm13941 G A 2: 110,922,193 (GRCm39) probably benign Het
Klc3 T C 7: 19,130,220 (GRCm39) E319G possibly damaging Het
Lonrf1 T C 8: 36,697,231 (GRCm39) probably benign Het
Lrba A G 3: 86,267,089 (GRCm39) E1593G probably benign Het
Mroh5 G A 15: 73,664,638 (GRCm39) probably benign Het
Mthfr T A 4: 148,125,727 (GRCm39) M20K probably benign Het
Nsd2 C A 5: 34,040,347 (GRCm39) N960K possibly damaging Het
Osgin1 T A 8: 120,171,785 (GRCm39) V193E probably damaging Het
Pced1a A T 2: 130,261,098 (GRCm39) C420S probably benign Het
Pkd2l1 C T 19: 44,146,075 (GRCm39) probably null Het
Plekhg5 C A 4: 152,186,498 (GRCm39) probably null Het
Prkg2 A G 5: 99,172,400 (GRCm39) V105A probably benign Het
Rab11fip3 A G 17: 26,286,599 (GRCm39) I518T probably benign Het
Rapgef5 T A 12: 117,677,917 (GRCm39) V150D probably damaging Het
Sema4c A G 1: 36,593,001 (GRCm39) probably benign Het
Slc27a2 A G 2: 126,422,837 (GRCm39) E354G probably damaging Het
Slc28a3 A T 13: 58,722,114 (GRCm39) L257I probably benign Het
Slc2a8 G T 2: 32,863,636 (GRCm39) Q469K probably damaging Het
Slc44a1 T C 4: 53,553,550 (GRCm39) V519A possibly damaging Het
Slco6d1 A G 1: 98,359,955 (GRCm39) probably null Het
Strap T C 6: 137,722,521 (GRCm39) S219P probably damaging Het
Tjp1 T C 7: 64,950,967 (GRCm39) I1636V probably benign Het
Tle1 G A 4: 72,087,355 (GRCm39) R126C possibly damaging Het
Traf3 T A 12: 111,205,501 (GRCm39) I94N probably damaging Het
Trps1 G T 15: 50,710,266 (GRCm39) T28K probably benign Het
Unc13c T A 9: 73,643,985 (GRCm39) T1160S probably damaging Het
Vapb G A 2: 173,619,964 (GRCm39) V228M probably benign Het
Zfp119a A T 17: 56,172,792 (GRCm39) C350* probably null Het
Zfp51 A T 17: 21,683,714 (GRCm39) M110L probably benign Het
Zfp687 G A 3: 94,919,727 (GRCm39) A15V probably damaging Het
Zkscan6 A G 11: 65,719,287 (GRCm39) T436A possibly damaging Het
Other mutations in Wdr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20