Incidental Mutation 'IGL01347:Wdr1'
ID 75119
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 # IGL01347
Quality Score
Status
Chromosome 5
Chromosomal Location 38684149-38720265 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38703058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 173 (F173I)
Ref Sequence ENSEMBL: ENSMUSP00000005234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005234] [ENSMUST00000201260]
AlphaFold O88342
Predicted Effect possibly damaging
Transcript: ENSMUST00000005234
AA Change: F173I

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000005234
Gene: ENSMUSG00000005103
AA Change: F173I

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: ENSMUST00000082485
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201150
Predicted Effect probably benign
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: ENSMUST00000202766
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A T 6: 48,909,477 (GRCm39) Y574F probably benign Het
Apc C T 18: 34,450,723 (GRCm39) P2506S probably damaging Het
Bdp1 T A 13: 100,206,711 (GRCm39) K610N possibly damaging Het
Bri3bp T G 5: 125,531,581 (GRCm39) C176G probably damaging Het
Carnmt1 A G 19: 18,668,818 (GRCm39) I248V probably benign Het
Ccdc88b A G 19: 6,822,454 (GRCm39) L1475P probably damaging Het
Cfap100 C T 6: 90,383,103 (GRCm39) V511M possibly damaging Het
Chchd3 T C 6: 32,780,838 (GRCm39) N78S probably benign Het
Cnnm4 G A 1: 36,537,115 (GRCm39) E480K possibly damaging Het
Cyp2d34 T A 15: 82,500,978 (GRCm39) I385F possibly damaging Het
D930048N14Rik T A 11: 51,545,615 (GRCm39) probably benign Het
Dgkg A T 16: 22,419,340 (GRCm39) D53E probably benign Het
Dlx3 T A 11: 95,011,359 (GRCm39) L71H probably damaging Het
Egln2 A C 7: 26,859,717 (GRCm39) V332G probably null Het
Entpd2 A G 2: 25,288,746 (GRCm39) Q250R probably benign Het
Epyc A G 10: 97,510,593 (GRCm39) D132G probably damaging Het
Fxr2 A G 11: 69,543,114 (GRCm39) D637G probably benign Het
Gapvd1 A G 2: 34,596,708 (GRCm39) probably null Het
Gbp11 G A 5: 105,479,194 (GRCm39) probably benign Het
Gm17175 A T 14: 51,808,307 (GRCm39) C162S probably damaging Het
Gm5499 C T 17: 87,386,339 (GRCm39) noncoding transcript Het
Gps1 T C 11: 120,679,086 (GRCm39) V378A probably benign Het
Grik1 C T 16: 87,754,481 (GRCm39) R368Q probably benign Het
Gsap A G 5: 21,431,318 (GRCm39) E214G probably benign Het
H2bc13 A G 13: 21,900,064 (GRCm39) Y84H probably damaging Het
Jdp2 T C 12: 85,655,020 (GRCm39) S28P probably benign Het
Kif26b T C 1: 178,698,240 (GRCm39) F577S probably damaging Het
Kl G A 5: 150,904,130 (GRCm39) G294D probably damaging Het
Lgsn T A 1: 31,243,041 (GRCm39) D374E probably damaging Het
Lman1 T C 18: 66,124,681 (GRCm39) I353V probably damaging Het
Lmna T C 3: 88,392,270 (GRCm39) H374R probably benign Het
Lrrc57 A G 2: 120,439,286 (GRCm39) S31P probably benign Het
Lum T A 10: 97,404,547 (GRCm39) N147K probably damaging Het
Or6n2 T C 1: 173,897,632 (GRCm39) I256T probably benign Het
Or7a41 A G 10: 78,871,445 (GRCm39) T272A probably benign Het
P4ha3 C A 7: 99,955,140 (GRCm39) L332I probably damaging Het
Pelp1 A G 11: 70,286,505 (GRCm39) I541T probably damaging Het
Pja2 A C 17: 64,620,023 (GRCm39) S2A probably benign Het
Rhbdl3 T C 11: 80,244,268 (GRCm39) L325P probably damaging Het
Robo2 T C 16: 74,149,744 (GRCm39) D28G probably damaging Het
Rpa1 A G 11: 75,198,111 (GRCm39) Y470H probably damaging Het
Rtn3 T C 19: 7,434,645 (GRCm39) N430S probably benign Het
Scg2 T A 1: 79,414,538 (GRCm39) I62L probably benign Het
Scn5a T A 9: 119,391,507 (GRCm39) K62* probably null Het
Sec23ip T C 7: 128,364,129 (GRCm39) V469A probably benign Het
Shank1 A G 7: 43,991,544 (GRCm39) T663A unknown Het
Slco1a7 A T 6: 141,700,192 (GRCm39) Y113* probably null Het
Stab2 G T 10: 86,737,567 (GRCm39) probably null Het
Tmcc3 T C 10: 94,418,147 (GRCm39) L305P probably damaging Het
Tmem145 A G 7: 25,014,260 (GRCm39) N458S probably damaging Het
Tpr G A 1: 150,302,738 (GRCm39) R1412Q probably damaging Het
Wdr17 C T 8: 55,104,380 (GRCm39) V898I probably benign Het
Wdr64 A T 1: 175,547,899 (GRCm39) L145F probably benign Het
Wnt10b A G 15: 98,674,826 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,298,957 (GRCm39) probably null 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
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