Incidental Mutation 'IGL01642:Wdr66'
ID93690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr66
Ensembl Gene ENSMUSG00000029442
Gene NameWD repeat domain 66
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL01642
Quality Score
Status
Chromosome5
Chromosomal Location123252102-123327484 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123288698 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 383 (V383A)
Ref Sequence ENSEMBL: ENSMUSP00000126995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121964] [ENSMUST00000163092] [ENSMUST00000170536]
Predicted Effect probably benign
Transcript: ENSMUST00000121964
AA Change: V880A

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442
AA Change: V880A

DomainStartEndE-ValueType
coiled coil region 9 160 N/A INTRINSIC
coiled coil region 243 299 N/A INTRINSIC
WD40 437 478 1.58e-2 SMART
WD40 481 525 6.16e0 SMART
Blast:WD40 532 572 2e-15 BLAST
Blast:WD40 584 623 5e-17 BLAST
low complexity region 627 641 N/A INTRINSIC
WD40 643 677 7.64e1 SMART
Blast:WD40 686 742 1e-13 BLAST
WD40 745 784 8.62e-4 SMART
WD40 789 827 1.19e1 SMART
WD40 832 871 5.97e-1 SMART
WD40 880 923 1.23e2 SMART
WD40 1030 1070 1.15e0 SMART
low complexity region 1274 1285 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143629
Predicted Effect probably benign
Transcript: ENSMUST00000150155
Predicted Effect possibly damaging
Transcript: ENSMUST00000163092
AA Change: V383A

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126995
Gene: ENSMUSG00000029442
AA Change: V383A

DomainStartEndE-ValueType
Blast:WD40 1 28 3e-10 BLAST
Blast:WD40 35 75 2e-15 BLAST
Blast:WD40 87 126 3e-17 BLAST
low complexity region 130 144 N/A INTRINSIC
WD40 146 180 7.64e1 SMART
Blast:WD40 183 246 2e-14 BLAST
WD40 248 287 8.62e-4 SMART
WD40 292 330 1.19e1 SMART
WD40 335 374 5.97e-1 SMART
WD40 383 426 1.23e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170536
AA Change: V441A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129769
Gene: ENSMUSG00000029442
AA Change: V441A

DomainStartEndE-ValueType
WD40 42 86 3.18e1 SMART
Blast:WD40 93 133 1e-15 BLAST
Blast:WD40 145 184 3e-17 BLAST
low complexity region 188 202 N/A INTRINSIC
WD40 204 238 7.64e1 SMART
Blast:WD40 241 304 3e-14 BLAST
WD40 306 345 8.62e-4 SMART
WD40 350 388 1.19e1 SMART
WD40 393 432 5.97e-1 SMART
WD40 441 484 1.23e2 SMART
Blast:WD40 490 535 2e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197763
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A G 11: 116,595,688 T18A possibly damaging Het
Abat A T 16: 8,600,919 I126F possibly damaging Het
Adcy6 G A 15: 98,594,509 A958V possibly damaging Het
Ago2 T C 15: 73,123,390 I447V probably benign Het
Arid1a A G 4: 133,681,844 V1784A unknown Het
Atp1b1 A G 1: 164,457,761 F33L probably benign Het
Bpnt1 G A 1: 185,354,041 V198I probably benign Het
C87414 A G 5: 93,636,295 Y437H possibly damaging Het
Clip3 A T 7: 30,297,069 probably benign Het
Clip3 G A 7: 30,298,862 M244I probably benign Het
Cyp2a22 A T 7: 26,938,759 N107K possibly damaging Het
Cyp2c23 A T 19: 44,005,556 L457Q probably damaging Het
Dbr1 A G 9: 99,575,978 Y17C probably damaging Het
Drc7 G A 8: 95,059,139 V208I probably benign Het
Dst T A 1: 34,189,389 L2021Q probably damaging Het
E2f4 C A 8: 105,301,336 P299T probably damaging Het
Eef1b2 T C 1: 63,177,831 L53P probably damaging Het
Enpp3 T C 10: 24,798,269 T378A probably damaging Het
Eps15 A G 4: 109,366,473 N302S probably benign Het
Esrrg G A 1: 188,210,915 V362M probably benign Het
Gcc2 T A 10: 58,280,612 N1014K probably benign Het
Gm3099 T A 14: 4,000,508 M114K possibly damaging Het
Gnptab C T 10: 88,436,132 T928I possibly damaging Het
Gpd2 A T 2: 57,268,071 R31* probably null Het
Impdh1 T C 6: 29,207,166 T60A possibly damaging Het
Kcnab3 A G 11: 69,330,430 E191G probably benign Het
Kcnh5 A G 12: 74,965,169 S659P probably damaging Het
Kl T C 5: 150,980,869 I362T possibly damaging Het
Kpna4 A G 3: 69,085,784 V414A probably damaging Het
Magi1 G A 6: 93,686,624 P1111S possibly damaging Het
Mb21d1 G A 9: 78,437,398 P247L probably damaging Het
Myo18a A G 11: 77,864,732 D1965G probably benign Het
Nadsyn1 G A 7: 143,797,878 P673S probably damaging Het
Naip2 A G 13: 100,160,937 S864P probably damaging Het
Olfr1330 A G 4: 118,893,461 Y126C probably damaging Het
Olfr453 G T 6: 42,744,552 V172L probably benign Het
Olfr715b A T 7: 107,106,822 I13N possibly damaging Het
Paics T A 5: 76,961,510 probably benign Het
Papss1 G T 3: 131,583,235 probably benign Het
Pax3 A G 1: 78,196,663 probably null Het
Pgbd5 T G 8: 124,384,202 Q159P probably benign Het
Pkd1 A G 17: 24,581,292 Y3009C probably damaging Het
Pla2g4d T C 2: 120,280,636 T161A probably damaging Het
Podxl2 T A 6: 88,843,547 Y521F probably damaging Het
Prmt2 C T 10: 76,222,493 G161S probably damaging Het
Rft1 C T 14: 30,676,868 T265I probably damaging Het
Rims2 T A 15: 39,457,796 L736M probably damaging Het
Slf1 C T 13: 77,049,915 A747T probably benign Het
Snx2 A G 18: 53,216,447 K427E probably damaging Het
Tmem131l A T 3: 83,938,050 D424E possibly damaging Het
Tmem2 T A 19: 21,823,901 I794N probably damaging Het
Tnxb A G 17: 34,718,514 T3826A probably damaging Het
Tpp2 T C 1: 43,954,653 Y233H probably damaging Het
Ubl4b C A 3: 107,554,831 E38* probably null Het
Usp5 A T 6: 124,820,453 I486N probably damaging Het
Vmn1r193 A C 13: 22,219,624 L66R probably damaging Het
Vps13b T C 15: 35,792,072 I2162T probably benign Het
Wipf2 T C 11: 98,890,824 V63A probably benign Het
Zfp735 G T 11: 73,710,479 C83F possibly damaging Het
Zfyve26 T C 12: 79,261,574 probably null Het
Other mutations in Wdr66
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Wdr66 APN 5 123274177 missense probably damaging 1.00
IGL01090:Wdr66 APN 5 123279989 splice site probably benign
IGL01387:Wdr66 APN 5 123283546 missense probably damaging 1.00
IGL01432:Wdr66 APN 5 123279952 missense possibly damaging 0.88
IGL01720:Wdr66 APN 5 123322494 missense probably benign 0.07
IGL02104:Wdr66 APN 5 123302698 nonsense probably null
IGL02160:Wdr66 APN 5 123256018 missense unknown
IGL02238:Wdr66 APN 5 123302423 missense probably damaging 1.00
IGL02820:Wdr66 APN 5 123254636 unclassified probably benign
IGL03183:Wdr66 APN 5 123254619 unclassified probably benign
R0078:Wdr66 UTSW 5 123298570 missense probably benign 0.04
R0207:Wdr66 UTSW 5 123283447 missense probably damaging 0.98
R0411:Wdr66 UTSW 5 123290054 missense probably damaging 1.00
R0414:Wdr66 UTSW 5 123287413 splice site probably null
R0722:Wdr66 UTSW 5 123256185 missense probably damaging 1.00
R1169:Wdr66 UTSW 5 123254610 small deletion probably benign
R1527:Wdr66 UTSW 5 123287345 missense probably benign 0.19
R1924:Wdr66 UTSW 5 123302739 missense possibly damaging 0.67
R2022:Wdr66 UTSW 5 123273790 missense probably benign 0.29
R2110:Wdr66 UTSW 5 123254375 unclassified probably benign
R2112:Wdr66 UTSW 5 123254375 unclassified probably benign
R2147:Wdr66 UTSW 5 123256191 missense probably benign 0.01
R2258:Wdr66 UTSW 5 123283348 splice site probably null
R2407:Wdr66 UTSW 5 123289969 missense probably benign 0.11
R2418:Wdr66 UTSW 5 123254268 unclassified probably benign
R2497:Wdr66 UTSW 5 123283369 missense probably damaging 1.00
R2509:Wdr66 UTSW 5 123256106 missense probably benign 0.00
R3437:Wdr66 UTSW 5 123254372 unclassified probably benign
R3730:Wdr66 UTSW 5 123326568 missense possibly damaging 0.70
R3800:Wdr66 UTSW 5 123254721 unclassified probably benign
R4018:Wdr66 UTSW 5 123322454 missense probably benign 0.04
R4181:Wdr66 UTSW 5 123293810 missense probably benign 0.33
R4302:Wdr66 UTSW 5 123293810 missense probably benign 0.33
R4640:Wdr66 UTSW 5 123302432 missense probably benign 0.00
R4701:Wdr66 UTSW 5 123322613 missense probably benign 0.00
R4799:Wdr66 UTSW 5 123302772 missense probably benign 0.04
R4812:Wdr66 UTSW 5 123287305 missense probably benign 0.01
R4922:Wdr66 UTSW 5 123256053 missense probably benign 0.00
R5123:Wdr66 UTSW 5 123273633 start gained probably benign
R5314:Wdr66 UTSW 5 123322563 missense probably benign 0.01
R5445:Wdr66 UTSW 5 123287177 missense probably damaging 1.00
R5458:Wdr66 UTSW 5 123254445 unclassified probably benign
R5462:Wdr66 UTSW 5 123298632 critical splice donor site probably null
R5514:Wdr66 UTSW 5 123287766 critical splice donor site probably null
R5600:Wdr66 UTSW 5 123288698 missense possibly damaging 0.77
R5635:Wdr66 UTSW 5 123322572 missense probably benign 0.25
R5767:Wdr66 UTSW 5 123298521 missense probably benign 0.01
R5943:Wdr66 UTSW 5 123286357 missense probably benign 0.13
R6000:Wdr66 UTSW 5 123254372 unclassified probably benign
R6030:Wdr66 UTSW 5 123274204 missense probably damaging 0.97
R6030:Wdr66 UTSW 5 123274204 missense probably damaging 0.97
R6293:Wdr66 UTSW 5 123322448 missense probably damaging 1.00
R6354:Wdr66 UTSW 5 123302755 missense probably damaging 0.99
R6356:Wdr66 UTSW 5 123254666 unclassified probably benign
R6427:Wdr66 UTSW 5 123326533 missense probably damaging 1.00
R6896:Wdr66 UTSW 5 123278358 missense possibly damaging 0.81
R6909:Wdr66 UTSW 5 123287752 missense probably damaging 1.00
R7503:Wdr66 UTSW 5 123297458 nonsense probably null
X0062:Wdr66 UTSW 5 123274237 missense probably benign 0.29
X0066:Wdr66 UTSW 5 123288647 missense probably benign 0.05
Posted On2013-12-09