Incidental Mutation 'IGL01293:Wdr1'
ID 72978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr1
Ensembl Gene ENSMUSG00000005103
Gene Name WD repeat domain 1
Synonyms rede, D5Wsu185e, Aip1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01293
Quality Score
Status
Chromosome 5
Chromosomal Location 38684149-38720265 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38686886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 293 (T293A)
Ref Sequence ENSEMBL: ENSMUSP00000143937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005234] [ENSMUST00000201260]
AlphaFold O88342
Predicted Effect probably benign
Transcript: ENSMUST00000005234
AA Change: T566A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000005234
Gene: ENSMUSG00000005103
AA Change: T566A

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 benign
Transcript: ENSMUST00000201260
AA Change: T293A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143937
Gene: ENSMUSG00000005103
AA Change: T293A

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Bnc1 T C 7: 81,624,237 (GRCm39) E330G probably damaging Het
Cenpq A T 17: 41,244,067 (GRCm39) S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 (GRCm39) M1K probably null Het
Cul2 A G 18: 3,419,426 (GRCm39) K196E probably damaging Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Efhc2 T A X: 17,073,934 (GRCm39) I469L probably benign Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Il1rl1 G A 1: 40,485,376 (GRCm39) G276D possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Mgat4c A T 10: 102,224,086 (GRCm39) Y100F probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or14j2 A G 17: 37,886,308 (GRCm39) I2T probably benign Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Patl2 T C 2: 121,954,291 (GRCm39) T427A probably benign Het
Pdzd8 T A 19: 59,288,218 (GRCm39) R1061W probably damaging Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Rps6ka6 T C X: 110,360,059 (GRCm39) probably benign Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Sox4 C A 13: 29,136,664 (GRCm39) R114L probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Tram1l1 T C 3: 124,115,788 (GRCm39) V316A probably benign Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Vmn1r49 A T 6: 90,049,394 (GRCm39) S203T probably damaging Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging Het
Other mutations in Wdr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00939:Wdr1 APN 5 38,692,666 (GRCm39) missense probably benign 0.00
IGL01071:Wdr1 APN 5 38,687,410 (GRCm39) missense probably benign 0.14
IGL01347:Wdr1 APN 5 38,703,058 (GRCm39) missense possibly damaging 0.77
IGL01532:Wdr1 APN 5 38,692,530 (GRCm39) missense probably damaging 1.00
IGL02409:Wdr1 APN 5 38,688,453 (GRCm39) missense probably benign 0.06
IGL02415:Wdr1 APN 5 38,688,453 (GRCm39) missense probably damaging 1.00
IGL02543:Wdr1 APN 5 38,703,165 (GRCm39) missense probably damaging 1.00
IGL02550:Wdr1 APN 5 38,698,206 (GRCm39) missense probably damaging 1.00
IGL03093:Wdr1 APN 5 38,718,472 (GRCm39) missense probably benign 0.01
IGL03183:Wdr1 APN 5 38,690,825 (GRCm39) critical splice donor site probably null
R0724:Wdr1 UTSW 5 38,698,205 (GRCm39) missense possibly damaging 0.87
R1509:Wdr1 UTSW 5 38,697,905 (GRCm39) missense probably damaging 0.96
R1589:Wdr1 UTSW 5 38,687,315 (GRCm39) missense probably benign 0.43
R3039:Wdr1 UTSW 5 38,687,428 (GRCm39) missense possibly damaging 0.94
R3767:Wdr1 UTSW 5 38,697,882 (GRCm39) missense probably damaging 1.00
R4833:Wdr1 UTSW 5 38,704,372 (GRCm39) missense probably damaging 1.00
R5405:Wdr1 UTSW 5 38,692,543 (GRCm39) missense probably benign 0.03
R5475:Wdr1 UTSW 5 38,686,931 (GRCm39) missense probably damaging 1.00
R5476:Wdr1 UTSW 5 38,686,931 (GRCm39) missense probably damaging 1.00
R5619:Wdr1 UTSW 5 38,686,879 (GRCm39) missense possibly damaging 0.93
R5852:Wdr1 UTSW 5 38,694,518 (GRCm39) missense probably benign 0.00
R5876:Wdr1 UTSW 5 38,687,366 (GRCm39) missense probably benign 0.01
R6170:Wdr1 UTSW 5 38,687,014 (GRCm39) critical splice acceptor site probably null
R6367:Wdr1 UTSW 5 38,703,189 (GRCm39) missense possibly damaging 0.68
R6524:Wdr1 UTSW 5 38,687,406 (GRCm39) missense probably benign 0.07
R6643:Wdr1 UTSW 5 38,697,521 (GRCm39) missense probably damaging 1.00
R6838:Wdr1 UTSW 5 38,687,374 (GRCm39) missense probably damaging 0.96
R7305:Wdr1 UTSW 5 38,697,435 (GRCm39) missense possibly damaging 0.90
R8364:Wdr1 UTSW 5 38,685,192 (GRCm39) missense possibly damaging 0.80
R8380:Wdr1 UTSW 5 38,697,864 (GRCm39) missense possibly damaging 0.89
R9151:Wdr1 UTSW 5 38,687,468 (GRCm39) splice site probably benign
R9300:Wdr1 UTSW 5 38,685,255 (GRCm39) missense probably damaging 0.96
R9347:Wdr1 UTSW 5 38,697,355 (GRCm39) critical splice donor site probably null
R9679:Wdr1 UTSW 5 38,685,216 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07