Incidental Mutation 'IGL00939:Wdr1'
ID 27449
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
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL00939
Quality Score
Status
Chromosome 5
Chromosomal Location 38526813-38563221 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38535323 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 80 (T80A)
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: T353A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005234
Gene: ENSMUSG00000005103
AA Change: T353A

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: ENSMUST00000201150
Predicted Effect probably benign
Transcript: ENSMUST00000201260
AA Change: T80A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143937
Gene: ENSMUSG00000005103
AA Change: T80A

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: 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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C A 5: 35,824,015 probably benign Het
Ash1l T C 3: 89,035,236 V2061A probably damaging Het
Csnk1a1 A G 18: 61,575,450 D194G probably damaging Het
Dopey2 T A 16: 93,774,083 S1657T possibly damaging Het
Hcn4 A G 9: 58,843,927 I279V probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lamb1 T C 12: 31,302,927 S828P probably damaging Het
Morc1 G A 16: 48,452,589 C193Y probably damaging Het
Nudt16l1 T C 16: 4,939,435 F71L probably benign Het
Nup50 T G 15: 84,938,420 L381* probably null Het
Pccb A G 9: 100,985,869 S372P probably damaging Het
Rnf19b A G 4: 129,071,789 R227G probably damaging Het
Ror1 A G 4: 100,441,226 I599V probably benign Het
Sipa1l2 A G 8: 125,464,435 probably benign Het
Sowahb A T 5: 93,043,842 D339E probably benign Het
Ssc5d C T 7: 4,936,281 T572I possibly damaging Het
Tnn A G 1: 160,147,530 L109P probably damaging Het
Ttn T C 2: 76,710,081 Q34187R possibly damaging Het
Ube2j2 A G 4: 155,956,447 E177G possibly damaging Het
Vmn2r103 A G 17: 19,794,965 T456A probably benign Het
Other mutations in Wdr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Wdr1 APN 5 38530067 missense probably benign 0.14
IGL01293:Wdr1 APN 5 38529543 missense probably benign 0.00
IGL01347:Wdr1 APN 5 38545715 missense possibly damaging 0.77
IGL01532:Wdr1 APN 5 38535187 missense probably damaging 1.00
IGL02409:Wdr1 APN 5 38531110 missense probably benign 0.06
IGL02415:Wdr1 APN 5 38531110 missense probably damaging 1.00
IGL02543:Wdr1 APN 5 38545822 missense probably damaging 1.00
IGL02550:Wdr1 APN 5 38540863 missense probably damaging 1.00
IGL03093:Wdr1 APN 5 38561129 missense probably benign 0.01
IGL03183:Wdr1 APN 5 38533482 critical splice donor site probably null
R0724:Wdr1 UTSW 5 38540862 missense possibly damaging 0.87
R1509:Wdr1 UTSW 5 38540562 missense probably damaging 0.96
R1589:Wdr1 UTSW 5 38529972 missense probably benign 0.43
R3039:Wdr1 UTSW 5 38530085 missense possibly damaging 0.94
R3767:Wdr1 UTSW 5 38540539 missense probably damaging 1.00
R4833:Wdr1 UTSW 5 38547029 missense probably damaging 1.00
R5405:Wdr1 UTSW 5 38535200 missense probably benign 0.03
R5475:Wdr1 UTSW 5 38529588 missense probably damaging 1.00
R5476:Wdr1 UTSW 5 38529588 missense probably damaging 1.00
R5619:Wdr1 UTSW 5 38529536 missense possibly damaging 0.93
R5852:Wdr1 UTSW 5 38537175 missense probably benign 0.00
R5876:Wdr1 UTSW 5 38530023 missense probably benign 0.01
R6170:Wdr1 UTSW 5 38529671 critical splice acceptor site probably null
R6367:Wdr1 UTSW 5 38545846 missense possibly damaging 0.68
R6524:Wdr1 UTSW 5 38530063 missense probably benign 0.07
R6643:Wdr1 UTSW 5 38540178 missense probably damaging 1.00
R6838:Wdr1 UTSW 5 38530031 missense probably damaging 0.96
R7305:Wdr1 UTSW 5 38540092 missense possibly damaging 0.90
R8364:Wdr1 UTSW 5 38527849 missense possibly damaging 0.80
R8380:Wdr1 UTSW 5 38540521 missense possibly damaging 0.89
R9151:Wdr1 UTSW 5 38530125 splice site probably benign
R9300:Wdr1 UTSW 5 38527912 missense probably damaging 0.96
R9347:Wdr1 UTSW 5 38540012 critical splice donor site probably null
Posted On 2013-04-17