Incidental Mutation 'R1168:Wdr3'
ID101262
Institutional Source Beutler Lab
Gene Symbol Wdr3
Ensembl Gene ENSMUSG00000033285
Gene NameWD repeat domain 3
SynonymsD030020G18Rik
MMRRC Submission 039241-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.954) question?
Stock #R1168 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location100138180-100162407 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 100142219 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 800 (N800K)
Ref Sequence ENSEMBL: ENSMUSP00000060613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052120] [ENSMUST00000164539]
Predicted Effect probably benign
Transcript: ENSMUST00000052120
AA Change: N800K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000060613
Gene: ENSMUSG00000033285
AA Change: N800K

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.2%
  • 20x: 88.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 138,067,900 V950A probably benign Het
4930452B06Rik T C 14: 8,442,939 N610S probably benign Het
Adgrb3 A T 1: 25,826,199 S188T probably benign Het
Ahr A T 12: 35,504,532 N529K possibly damaging Het
Akr1c21 A G 13: 4,583,837 N302D probably benign Het
Aldh8a1 T A 10: 21,384,631 probably null Het
Alpk3 A T 7: 81,103,357 K1554M probably damaging Het
Arhgef5 T A 6: 43,273,396 H360Q probably benign Het
Cacna1a A G 8: 84,579,501 I1293V probably damaging Het
Cacna2d4 C T 6: 119,307,286 R745W probably damaging Het
Cd200r4 T A 16: 44,832,944 W72R probably damaging Het
Ces2e A T 8: 104,927,014 D28V possibly damaging Het
Cfap45 T C 1: 172,545,697 Y534H probably damaging Het
Cfap54 A T 10: 92,937,920 C87S probably damaging Het
Chmp7 C T 14: 69,719,450 M336I probably benign Het
Chrna4 T A 2: 181,034,138 M67L possibly damaging Het
Cts7 T A 13: 61,353,817 N290Y probably damaging Het
Enpp6 A T 8: 47,030,454 M94L probably damaging Het
Fam83d C T 2: 158,768,523 A137V probably benign Het
Foxd2 C T 4: 114,907,678 A382T possibly damaging Het
Galnt11 T G 5: 25,250,246 S193R probably damaging Het
Gapvd1 A T 2: 34,704,469 D856E probably damaging Het
Gclm T A 3: 122,262,688 H86Q possibly damaging Het
Gipc2 T C 3: 152,107,997 T220A probably benign Het
Gm12185 G T 11: 48,915,355 N336K possibly damaging Het
Gm5431 A T 11: 48,895,364 S61R probably benign Het
Gm884 T C 11: 103,618,950 probably benign Het
Gorasp2 C T 2: 70,688,400 P260S probably damaging Het
H2-M10.6 A G 17: 36,813,160 Q172R probably benign Het
Ibsp A G 5: 104,302,152 I6V probably damaging Het
Iqsec1 T C 6: 90,689,676 Y593C probably damaging Het
Itln1 G T 1: 171,531,551 Y61* probably null Het
Kif21a G A 15: 90,993,753 T284I probably damaging Het
Kif3a G A 11: 53,598,312 G621R probably damaging Het
Klb A G 5: 65,378,974 Y549C probably damaging Het
Lman1l G A 9: 57,608,312 R427C probably benign Het
Map4 T C 9: 110,034,964 V419A probably benign Het
Mastl A T 2: 23,133,132 D526E probably benign Het
Mrvi1 T C 7: 110,895,931 K429R probably damaging Het
Mtif2 A G 11: 29,536,914 D308G probably benign Het
Ncald A G 15: 37,397,334 F34S probably damaging Het
Ndc1 A G 4: 107,395,812 T593A probably benign Het
Ndst3 C T 3: 123,606,968 V15I probably benign Het
Nup214 A G 2: 32,025,301 N1166D probably benign Het
Olfr1031 A T 2: 85,992,684 Y289F probably damaging Het
Olfr1240 G A 2: 89,439,869 Q137* probably null Het
Olfr1368 A G 13: 21,142,617 S147P probably benign Het
Olfr403 A G 11: 74,196,421 H306R probably benign Het
Pcdhb8 T C 18: 37,356,727 I486T probably benign Het
Pdzrn4 A T 15: 92,770,271 Y768F probably benign Het
Pgf A G 12: 85,171,767 S70P probably benign Het
Plcl2 G A 17: 50,607,072 A370T possibly damaging Het
Pnkp T A 7: 44,862,537 W115R probably benign Het
Ppp1r16a C T 15: 76,693,669 Q328* probably null Het
Prag1 A G 8: 36,146,645 E1117G probably damaging Het
Prr12 T A 7: 45,029,047 Q1919L unknown Het
Ret G T 6: 118,173,558 H666N possibly damaging Het
Rfwd3 C T 8: 111,288,242 R326Q probably damaging Het
Robo2 C T 16: 73,948,296 G864S probably damaging Het
Rpa2 T G 4: 132,771,860 I80S probably damaging Het
Ryk A T 9: 102,898,475 D428V probably damaging Het
Slc29a1 A T 17: 45,590,278 N30K probably damaging Het
Stbd1 A G 5: 92,604,936 N95S probably benign Het
Tbc1d22a A G 15: 86,292,134 E212G probably benign Het
Tex14 A G 11: 87,536,742 T7A probably benign Het
Tmc8 T C 11: 117,792,563 V648A possibly damaging Het
Tmem132b G T 5: 125,787,019 V730F probably damaging Het
Tmub2 G A 11: 102,287,370 G33D possibly damaging Het
Trak1 G A 9: 121,440,679 D124N probably damaging Het
Ttc28 A T 5: 111,231,111 Y1154F probably damaging Het
Ttn T C 2: 76,909,369 T3609A probably benign Het
Tulp2 A G 7: 45,517,842 T99A probably benign Het
Ugt2a2 A T 5: 87,465,568 probably null Het
Ush2a G A 1: 188,678,411 V2419I probably benign Het
Vill C A 9: 119,070,321 P343Q probably damaging Het
Vmn2r66 T A 7: 85,006,854 H318L possibly damaging Het
Wdr93 A G 7: 79,749,174 K19E probably damaging Het
Wrn A G 8: 33,316,408 S333P probably damaging Het
Zfp418 T C 7: 7,182,501 S488P possibly damaging Het
Zfp804a A G 2: 82,256,697 E290G probably benign Het
Other mutations in Wdr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Wdr3 APN 3 100148108 missense probably damaging 1.00
IGL00706:Wdr3 APN 3 100148100 unclassified probably benign
IGL01391:Wdr3 APN 3 100146789 unclassified probably benign
IGL02008:Wdr3 APN 3 100150982 missense probably damaging 0.97
IGL02136:Wdr3 APN 3 100138725 nonsense probably null
IGL02215:Wdr3 APN 3 100146700 critical splice donor site probably null
IGL02505:Wdr3 APN 3 100151974 missense probably benign
IGL03412:Wdr3 APN 3 100151977 missense probably benign 0.00
R0241:Wdr3 UTSW 3 100145657 missense probably damaging 1.00
R0241:Wdr3 UTSW 3 100145657 missense probably damaging 1.00
R0369:Wdr3 UTSW 3 100156418 nonsense probably null
R0865:Wdr3 UTSW 3 100152796 unclassified probably benign
R0966:Wdr3 UTSW 3 100161069 missense probably damaging 0.99
R1612:Wdr3 UTSW 3 100151199 splice site probably benign
R1768:Wdr3 UTSW 3 100153870 missense probably benign
R2060:Wdr3 UTSW 3 100159897 unclassified probably null
R3793:Wdr3 UTSW 3 100151965 missense probably benign 0.02
R3888:Wdr3 UTSW 3 100153906 missense probably benign
R4410:Wdr3 UTSW 3 100140227 missense probably benign
R4596:Wdr3 UTSW 3 100152867 missense possibly damaging 0.95
R4609:Wdr3 UTSW 3 100140200 missense probably damaging 1.00
R4817:Wdr3 UTSW 3 100146545 missense possibly damaging 0.71
R5016:Wdr3 UTSW 3 100141620 intron probably benign
R5024:Wdr3 UTSW 3 100154936 missense probably benign
R5411:Wdr3 UTSW 3 100142984 missense probably damaging 1.00
R5430:Wdr3 UTSW 3 100157327 missense possibly damaging 0.88
R5902:Wdr3 UTSW 3 100144491 unclassified probably benign
R6177:Wdr3 UTSW 3 100161152 missense probably damaging 0.97
R6445:Wdr3 UTSW 3 100156403 missense possibly damaging 0.65
R6516:Wdr3 UTSW 3 100145676 missense probably damaging 1.00
R6624:Wdr3 UTSW 3 100144326 missense probably damaging 1.00
R6747:Wdr3 UTSW 3 100138724 missense probably damaging 1.00
R6813:Wdr3 UTSW 3 100138725 nonsense probably null
R6899:Wdr3 UTSW 3 100149901 missense possibly damaging 0.90
X0012:Wdr3 UTSW 3 100145630 splice site probably null
Z1088:Wdr3 UTSW 3 100144344 missense probably benign 0.00
Predicted Primers
Posted On2014-01-15