Incidental Mutation 'IGL03183:Wdr1'
ID 412354
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 # IGL03183
Quality Score
Status
Chromosome 5
Chromosomal Location 38684149-38720265 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 38690825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005234] [ENSMUST00000201260]
AlphaFold O88342
Predicted Effect probably null
Transcript: ENSMUST00000005234
SMART Domains Protein: ENSMUSP00000005234
Gene: ENSMUSG00000005103

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 null
Transcript: ENSMUST00000201260
SMART Domains Protein: ENSMUSP00000143937
Gene: ENSMUSG00000005103

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
Aldh6a1 A G 12: 84,483,214 (GRCm39) probably null Het
Ano2 A T 6: 125,687,592 (GRCm39) K32N probably benign Het
Asic1 A G 15: 99,569,898 (GRCm39) H73R probably benign Het
B3glct A G 5: 149,677,607 (GRCm39) D412G probably damaging Het
Baz2b T C 2: 59,733,640 (GRCm39) I1891V probably benign Het
Cc2d2a A G 5: 43,889,721 (GRCm39) E1278G probably damaging Het
Ccdc116 T C 16: 16,960,718 (GRCm39) E33G probably benign Het
Celf4 T A 18: 25,670,796 (GRCm39) Q129L probably benign Het
Celf4 G T 18: 25,670,797 (GRCm39) Q129K probably benign Het
Cfap251 A G 5: 123,392,682 (GRCm39) probably benign Het
Col18a1 A G 10: 76,909,588 (GRCm39) S817P probably damaging Het
Corin A G 5: 72,458,929 (GRCm39) V940A probably damaging Het
Dlgap2 A T 8: 14,777,525 (GRCm39) N257Y possibly damaging Het
Dnah2 C A 11: 69,349,314 (GRCm39) V2441L possibly damaging Het
Evpl C T 11: 116,112,438 (GRCm39) E1751K probably damaging Het
Fat1 G A 8: 45,403,623 (GRCm39) E125K probably damaging Het
Fras1 A T 5: 96,881,640 (GRCm39) probably benign Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
G3bp2 A C 5: 92,202,905 (GRCm39) M362R possibly damaging Het
Grk5 T C 19: 61,057,774 (GRCm39) F158S probably damaging Het
Hmbox1 G T 14: 65,125,048 (GRCm39) Q188K probably damaging Het
Ift172 A T 5: 31,429,348 (GRCm39) D604E probably benign Het
Igkv6-32 T A 6: 70,051,556 (GRCm39) T5S probably benign Het
Impa1 A G 3: 10,388,054 (GRCm39) Y123H probably damaging Het
Itgb4 C T 11: 115,879,550 (GRCm39) T612M probably damaging Het
Med12l T A 3: 58,944,976 (GRCm39) probably null Het
Meis2 A G 2: 115,890,002 (GRCm39) L160S probably damaging Het
Micu1 C T 10: 59,563,870 (GRCm39) R31* probably null Het
Nlrp9a G T 7: 26,256,882 (GRCm39) A167S probably damaging Het
Or10j27 A G 1: 172,958,425 (GRCm39) Y120H probably damaging Het
Or4d10 A T 19: 12,051,392 (GRCm39) N201K probably damaging Het
Plpp6 A G 19: 28,942,071 (GRCm39) N224S possibly damaging Het
Sdk2 T A 11: 113,741,810 (GRCm39) H803L probably benign Het
Shld2 T C 14: 33,967,143 (GRCm39) T690A probably benign Het
Slc36a1 T A 11: 55,119,017 (GRCm39) Y331N probably damaging Het
Spata31d1c A T 13: 65,183,009 (GRCm39) I184F possibly damaging Het
Stat3 T C 11: 100,793,582 (GRCm39) I338V possibly damaging Het
Stk10 T A 11: 32,554,143 (GRCm39) V610E possibly damaging Het
Syna A G 5: 134,587,144 (GRCm39) S602P probably benign Het
Tap2 T A 17: 34,424,399 (GRCm39) probably benign Het
Tln1 T C 4: 43,539,084 (GRCm39) probably benign Het
Tra2b C A 16: 22,073,303 (GRCm39) probably benign Het
Ttc7b T C 12: 100,339,968 (GRCm39) probably null Het
Vmn2r121 G A X: 123,042,023 (GRCm39) T378I probably benign 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
IGL01293:Wdr1 APN 5 38,686,886 (GRCm39) missense probably benign 0.00
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
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 2016-08-02