Incidental Mutation 'IGL02415:Wdr1'
ID 292406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr1
Ensembl Gene ENSMUSG00000005103
Gene Name WD repeat domain 1
Synonyms Aip1, rede, D5Wsu185e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02415
Quality Score
Status
Chromosome 5
Chromosomal Location 38526813-38563221 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 38531110 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 161 (D161Y)
Ref Sequence ENSEMBL: ENSMUSP00000143937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005234] [ENSMUST00000201260]
AlphaFold O88342
Predicted Effect probably damaging
Transcript: ENSMUST00000005234
AA Change: D434Y

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005234
Gene: ENSMUSG00000005103
AA Change: D434Y

DomainStartEndE-ValueType
WD40 47 86 1.7e-2 SMART
WD40 91 134 5.52e0 SMART
WD40 135 175 3.69e-3 SMART
WD40 178 217 4.4e-10 SMART
WD40 220 262 1.74e-8 SMART
WD40 309 350 7.05e-9 SMART
WD40 354 392 6.9e-1 SMART
WD40 434 473 1.36e-1 SMART
WD40 478 517 7.8e-2 SMART
WD40 521 560 1.83e-7 SMART
WD40 564 603 3.71e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201059
Predicted Effect probably damaging
Transcript: ENSMUST00000201260
AA Change: D161Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143937
Gene: ENSMUSG00000005103
AA Change: D161Y

DomainStartEndE-ValueType
WD40 36 77 4.6e-11 SMART
WD40 81 119 4.5e-3 SMART
WD40 161 200 8.9e-4 SMART
WD40 205 244 4.9e-4 SMART
WD40 248 287 1.2e-9 SMART
WD40 291 330 2.4e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202496
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 protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Severe loss of function at this locus causes embryonic lethality. Mice homozygous for a hypomorphic ENU-induced allele exhibit thrombocytopenia due to impaired megakaryocyte maturation and platelet shedding, and develop autoinflammatory disease associated with defects in neutrophil function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,947,991 (GRCm38) D124G probably benign Het
Adamts13 T A 2: 26,989,283 (GRCm38) I616N possibly damaging Het
Adamts3 T C 5: 89,706,647 (GRCm38) probably null Het
Amy1 T C 3: 113,563,585 (GRCm38) I202V probably benign Het
Bdp1 G A 13: 100,089,408 (GRCm38) T322I probably damaging Het
Cep295 A G 9: 15,353,020 (GRCm38) L110S probably damaging Het
Cep72 T C 13: 74,050,154 (GRCm38) D369G probably benign Het
Chd3 A T 11: 69,348,913 (GRCm38) probably benign Het
Ckmt2 G A 13: 91,863,340 (GRCm38) probably benign Het
Cyp2s1 T C 7: 25,808,137 (GRCm38) T296A probably damaging Het
E2f5 T A 3: 14,603,897 (GRCm38) V283E probably benign Het
F5 A G 1: 164,191,929 (GRCm38) T658A probably damaging Het
Fam102b A G 3: 108,980,292 (GRCm38) Y219H probably damaging Het
Gml A T 15: 74,816,440 (GRCm38) Y59* probably null Het
Kmo A T 1: 175,649,323 (GRCm38) probably benign Het
Krt25 A T 11: 99,322,572 (GRCm38) I107N probably damaging Het
Llgl2 A G 11: 115,853,285 (GRCm38) M773V probably damaging Het
Lyst G A 13: 13,660,956 (GRCm38) C1741Y probably benign Het
Med12 T C X: 101,281,790 (GRCm38) V761A probably damaging Het
Mrpl19 T C 6: 81,963,961 (GRCm38) T150A probably benign Het
Muc2 G T 7: 141,751,872 (GRCm38) E646* probably null Het
Muc20 T A 16: 32,794,681 (GRCm38) T109S unknown Het
Nr2f6 T C 8: 71,374,512 (GRCm38) T382A probably benign Het
Nrap A G 19: 56,382,309 (GRCm38) I172T probably damaging Het
Olfr1434 A G 19: 12,283,498 (GRCm38) Y150C probably benign Het
Olfr911-ps1 T C 9: 38,524,112 (GRCm38) C127R probably benign Het
P3h1 A T 4: 119,247,955 (GRCm38) Q710L probably benign Het
Parvb A G 15: 84,292,815 (GRCm38) H185R probably damaging Het
Pkhd1 T C 1: 20,522,759 (GRCm38) Y1710C probably damaging Het
Pkhd1 A G 1: 20,414,421 (GRCm38) I1970T probably damaging Het
Plxna2 C A 1: 194,643,964 (GRCm38) R69S probably damaging Het
Rad51ap2 A G 12: 11,456,929 (GRCm38) N284S possibly damaging Het
Reln T A 5: 21,971,951 (GRCm38) S1906C possibly damaging Het
Rln1 T C 19: 29,334,398 (GRCm38) R67G probably damaging Het
Shcbp1 C T 8: 4,754,239 (GRCm38) V224I possibly damaging Het
Slc13a4 A G 6: 35,283,237 (GRCm38) probably null Het
Stx6 A G 1: 155,193,313 (GRCm38) E195G possibly damaging Het
Sult2b1 G T 7: 45,742,085 (GRCm38) D90E possibly damaging Het
Taok1 A G 11: 77,540,240 (GRCm38) probably benign Het
Tbx15 A T 3: 99,352,510 (GRCm38) M566L probably benign Het
Tcaf1 C T 6: 42,686,650 (GRCm38) A99T probably benign Het
Tcf20 T A 15: 82,853,459 (GRCm38) M1264L probably benign Het
Tenm4 G A 7: 96,874,074 (GRCm38) V1571M probably damaging Het
Ttc39a A G 4: 109,431,529 (GRCm38) probably benign Het
Ubr1 C A 2: 120,970,603 (GRCm38) probably benign Het
Ulk1 T C 5: 110,787,621 (GRCm38) D926G probably damaging Het
Vmn2r110 T C 17: 20,583,771 (GRCm38) I181V probably benign Het
Vmn2r66 G A 7: 85,006,812 (GRCm38) T332I probably damaging Het
Wnt7a T C 6: 91,394,557 (GRCm38) Y141C probably damaging Het
Xrra1 G A 7: 99,915,943 (GRCm38) E573K probably benign Het
Zfp334 G T 2: 165,381,851 (GRCm38) Q91K possibly damaging Het
Other mutations in Wdr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00939:Wdr1 APN 5 38,535,323 (GRCm38) missense probably benign 0.00
IGL01071:Wdr1 APN 5 38,530,067 (GRCm38) missense probably benign 0.14
IGL01293:Wdr1 APN 5 38,529,543 (GRCm38) missense probably benign 0.00
IGL01347:Wdr1 APN 5 38,545,715 (GRCm38) missense possibly damaging 0.77
IGL01532:Wdr1 APN 5 38,535,187 (GRCm38) missense probably damaging 1.00
IGL02409:Wdr1 APN 5 38,531,110 (GRCm38) missense probably benign 0.06
IGL02543:Wdr1 APN 5 38,545,822 (GRCm38) missense probably damaging 1.00
IGL02550:Wdr1 APN 5 38,540,863 (GRCm38) missense probably damaging 1.00
IGL03093:Wdr1 APN 5 38,561,129 (GRCm38) missense probably benign 0.01
IGL03183:Wdr1 APN 5 38,533,482 (GRCm38) critical splice donor site probably null
R0724:Wdr1 UTSW 5 38,540,862 (GRCm38) missense possibly damaging 0.87
R1509:Wdr1 UTSW 5 38,540,562 (GRCm38) missense probably damaging 0.96
R1589:Wdr1 UTSW 5 38,529,972 (GRCm38) missense probably benign 0.43
R3039:Wdr1 UTSW 5 38,530,085 (GRCm38) missense possibly damaging 0.94
R3767:Wdr1 UTSW 5 38,540,539 (GRCm38) missense probably damaging 1.00
R4833:Wdr1 UTSW 5 38,547,029 (GRCm38) missense probably damaging 1.00
R5405:Wdr1 UTSW 5 38,535,200 (GRCm38) missense probably benign 0.03
R5475:Wdr1 UTSW 5 38,529,588 (GRCm38) missense probably damaging 1.00
R5476:Wdr1 UTSW 5 38,529,588 (GRCm38) missense probably damaging 1.00
R5619:Wdr1 UTSW 5 38,529,536 (GRCm38) missense possibly damaging 0.93
R5852:Wdr1 UTSW 5 38,537,175 (GRCm38) missense probably benign 0.00
R5876:Wdr1 UTSW 5 38,530,023 (GRCm38) missense probably benign 0.01
R6170:Wdr1 UTSW 5 38,529,671 (GRCm38) critical splice acceptor site probably null
R6367:Wdr1 UTSW 5 38,545,846 (GRCm38) missense possibly damaging 0.68
R6524:Wdr1 UTSW 5 38,530,063 (GRCm38) missense probably benign 0.07
R6643:Wdr1 UTSW 5 38,540,178 (GRCm38) missense probably damaging 1.00
R6838:Wdr1 UTSW 5 38,530,031 (GRCm38) missense probably damaging 0.96
R7305:Wdr1 UTSW 5 38,540,092 (GRCm38) missense possibly damaging 0.90
R8364:Wdr1 UTSW 5 38,527,849 (GRCm38) missense possibly damaging 0.80
R8380:Wdr1 UTSW 5 38,540,521 (GRCm38) missense possibly damaging 0.89
R9151:Wdr1 UTSW 5 38,530,125 (GRCm38) splice site probably benign
R9300:Wdr1 UTSW 5 38,527,912 (GRCm38) missense probably damaging 0.96
R9347:Wdr1 UTSW 5 38,540,012 (GRCm38) critical splice donor site probably null
R9679:Wdr1 UTSW 5 38,527,873 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16