Incidental Mutation 'R4837:Wasf3'
ID 374337
Institutional Source Beutler Lab
Gene Symbol Wasf3
Ensembl Gene ENSMUSG00000029636
Gene Name WASP family, member 3
Synonyms Wave3
MMRRC Submission 042452-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4837 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 146321795-146410425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 146397788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 185 (V185A)
Ref Sequence ENSEMBL: ENSMUSP00000016143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016143]
AlphaFold Q8VHI6
Predicted Effect probably benign
Transcript: ENSMUST00000016143
AA Change: V185A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000016143
Gene: ENSMUSG00000029636
AA Change: V185A

DomainStartEndE-ValueType
PDB:3P8C|D 1 171 1e-86 PDB
low complexity region 172 184 N/A INTRINSIC
low complexity region 301 313 N/A INTRINSIC
low complexity region 339 354 N/A INTRINSIC
low complexity region 395 422 N/A INTRINSIC
WH2 439 456 4.97e-5 SMART
low complexity region 484 501 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (75/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal platelet physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,846,203 (GRCm39) H618L probably benign Het
Adgrl3 A G 5: 81,914,081 (GRCm39) T1230A probably benign Het
Ahnak2 A G 12: 112,749,359 (GRCm39) S203P probably benign Het
Allc A G 12: 28,609,308 (GRCm39) V244A probably benign Het
Ap3m1 G A 14: 21,087,225 (GRCm39) P157L probably damaging Het
Arhgef2 T G 3: 88,540,250 (GRCm39) I97S probably damaging Het
Btaf1 C A 19: 36,944,185 (GRCm39) T398K probably benign Het
Cabp1 T C 5: 115,311,212 (GRCm39) M158V probably damaging Het
Ccdc162 G A 10: 41,549,863 (GRCm39) P340L probably benign Het
Ccdc168 G A 1: 44,100,594 (GRCm39) T168I possibly damaging Het
Clip4 A G 17: 72,141,217 (GRCm39) K524E probably damaging Het
Cltc A G 11: 86,586,474 (GRCm39) V189A probably benign Het
Cmc2 A G 8: 117,620,879 (GRCm39) F34S probably damaging Het
Ctcfl G T 2: 172,955,449 (GRCm39) T271N probably benign Het
Cyp4f16 T A 17: 32,761,738 (GRCm39) F124I possibly damaging Het
Ddx41 C A 13: 55,679,461 (GRCm39) R479L possibly damaging Het
Dgcr6 C A 16: 17,884,710 (GRCm39) N87K possibly damaging Het
Dll1 A G 17: 15,589,121 (GRCm39) L518P probably damaging Het
Dnaja4 G T 9: 54,617,928 (GRCm39) M263I probably benign Het
Dusp13b T A 14: 21,793,593 (GRCm39) probably benign Het
Fam185a T A 5: 21,685,375 (GRCm39) I357N probably benign Het
Fam186a T C 15: 99,838,678 (GRCm39) Y2522C unknown Het
Fam222a T A 5: 114,732,458 (GRCm39) C4* probably null Het
Filip1 T C 9: 79,726,741 (GRCm39) D626G probably damaging Het
Ghrhr C T 6: 55,365,172 (GRCm39) R389C probably damaging Het
Gstm3 T A 3: 107,871,531 (GRCm39) T217S probably benign Het
Gucy2g T C 19: 55,214,485 (GRCm39) T548A probably benign Het
Hectd3 T A 4: 116,859,794 (GRCm39) C744S probably null Het
Hnrnpl T C 7: 28,516,762 (GRCm39) S184P probably benign Het
Il3 G A 11: 54,158,083 (GRCm39) probably benign Het
Itga5 C T 15: 103,262,511 (GRCm39) G330S probably damaging Het
Kl A G 5: 150,904,312 (GRCm39) T355A possibly damaging Het
Lipk A C 19: 34,009,720 (GRCm39) S208R probably damaging Het
Mrs2 T A 13: 25,183,040 (GRCm39) probably null Het
Mutyh A G 4: 116,674,887 (GRCm39) E372G probably damaging Het
Myh4 C A 11: 67,149,818 (GRCm39) A1821D probably benign Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Nlrp12 T C 7: 3,279,693 (GRCm39) E881G probably damaging Het
Nol9 T C 4: 152,136,552 (GRCm39) probably benign Het
Nwd1 A G 8: 73,383,759 (GRCm39) E52G probably damaging Het
Opn4 A G 14: 34,318,261 (GRCm39) V242A probably damaging Het
Or4e1 A T 14: 52,701,103 (GRCm39) M121K probably damaging Het
Or4k44 T A 2: 111,368,319 (GRCm39) H105L probably damaging Het
Or5m13 A G 2: 85,748,748 (GRCm39) T160A probably benign Het
Or6b1 T G 6: 42,814,783 (GRCm39) probably null Het
Or6b2b A G 1: 92,418,697 (GRCm39) V260A probably benign Het
Paxbp1 G A 16: 90,831,866 (GRCm39) Q341* probably null Het
Pcdh7 T C 5: 57,877,753 (GRCm39) V436A possibly damaging Het
Pcdhb18 G A 18: 37,622,867 (GRCm39) V66M probably damaging Het
Pikfyve A G 1: 65,285,749 (GRCm39) E951G possibly damaging Het
Plcg1 A G 2: 160,592,906 (GRCm39) N179S probably benign Het
Prr11 A C 11: 86,989,517 (GRCm39) S285A probably benign Het
Ranbp17 A G 11: 33,278,451 (GRCm39) S139P probably damaging Het
Rasa4 G A 5: 136,120,664 (GRCm39) probably null Het
Rnf213 G C 11: 119,333,589 (GRCm39) G2934R probably benign Het
Rpap1 A G 2: 119,608,732 (GRCm39) V210A probably benign Het
Rpn1 T A 6: 88,067,187 (GRCm39) N182K probably benign Het
Rps24 C T 14: 24,541,855 (GRCm39) T14I possibly damaging Het
Rrp12 C T 19: 41,865,944 (GRCm39) probably null Het
Rttn T A 18: 89,108,539 (GRCm39) probably null Het
Rufy1 A G 11: 50,292,320 (GRCm39) S490P probably damaging Het
Sec62 T A 3: 30,864,018 (GRCm39) M100K unknown Het
Spata16 A G 3: 26,787,081 (GRCm39) H253R possibly damaging Het
Srcap T C 7: 127,158,134 (GRCm39) probably benign Het
Srrm1 A G 4: 135,072,823 (GRCm39) probably benign Het
Tbcd G A 11: 121,473,611 (GRCm39) probably null Het
Tedc2 C A 17: 24,439,567 (GRCm39) A25S probably damaging Het
Tnr A T 1: 159,512,358 (GRCm39) probably benign Het
Tnxb A C 17: 34,936,981 (GRCm39) D3730A probably damaging Het
Tor2a G A 2: 32,650,609 (GRCm39) G201D probably damaging Het
Tpp1 T C 7: 105,395,856 (GRCm39) T558A probably benign Het
Vmn1r211 G T 13: 23,036,296 (GRCm39) Q124K probably benign Het
Zbtb12 A G 17: 35,114,985 (GRCm39) T257A probably benign Het
Other mutations in Wasf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Wasf3 APN 5 146,392,461 (GRCm39) missense probably damaging 1.00
IGL01992:Wasf3 APN 5 146,392,401 (GRCm39) missense probably damaging 1.00
IGL02866:Wasf3 APN 5 146,405,131 (GRCm39) missense probably benign 0.28
FR4737:Wasf3 UTSW 5 146,407,060 (GRCm39) missense probably damaging 0.99
R0622:Wasf3 UTSW 5 146,403,602 (GRCm39) splice site probably null
R1083:Wasf3 UTSW 5 146,372,182 (GRCm39) missense probably damaging 1.00
R1214:Wasf3 UTSW 5 146,407,098 (GRCm39) missense probably damaging 1.00
R1259:Wasf3 UTSW 5 146,388,786 (GRCm39) missense probably damaging 1.00
R1355:Wasf3 UTSW 5 146,407,018 (GRCm39) splice site probably benign
R1370:Wasf3 UTSW 5 146,407,018 (GRCm39) splice site probably benign
R1727:Wasf3 UTSW 5 146,403,769 (GRCm39) missense probably benign
R5080:Wasf3 UTSW 5 146,397,907 (GRCm39) missense probably benign
R6046:Wasf3 UTSW 5 146,407,166 (GRCm39) missense unknown
R6386:Wasf3 UTSW 5 146,390,227 (GRCm39) missense possibly damaging 0.77
R7181:Wasf3 UTSW 5 146,403,615 (GRCm39) missense probably benign
R7229:Wasf3 UTSW 5 146,392,463 (GRCm39) missense probably damaging 1.00
R8438:Wasf3 UTSW 5 146,390,237 (GRCm39) missense probably benign
R8830:Wasf3 UTSW 5 146,403,672 (GRCm39) nonsense probably null
R8909:Wasf3 UTSW 5 146,392,410 (GRCm39) missense
R9182:Wasf3 UTSW 5 146,403,635 (GRCm39) nonsense probably null
R9287:Wasf3 UTSW 5 146,397,857 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- AGACCCACTGTATTCATGATGGAC -3'
(R):5'- AGAAGGGTCCATGACATGCAC -3'

Sequencing Primer
(F):5'- ATTCATGATGGACCTGGTGAGCC -3'
(R):5'- ATGCACACACCTAGTATCTGGGG -3'
Posted On 2016-03-01