Incidental Mutation 'R5080:Wasf3'
ID 387077
Institutional Source Beutler Lab
Gene Symbol Wasf3
Ensembl Gene ENSMUSG00000029636
Gene Name WASP family, member 3
Synonyms Wave3
MMRRC Submission 042669-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5080 (G1)
Quality Score 178
Status Validated
Chromosome 5
Chromosomal Location 146321795-146410425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 146397907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 225 (H225Y)
Ref Sequence ENSEMBL: ENSMUSP00000016143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016143]
AlphaFold Q8VHI6
Predicted Effect probably benign
Transcript: ENSMUST00000016143
AA Change: H225Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000016143
Gene: ENSMUSG00000029636
AA Change: H225Y

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: 98.4%
  • 10x: 96.4%
  • 20x: 92.5%
Validation Efficiency 96% (54/56)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 G A 14: 103,286,744 (GRCm39) G16S possibly damaging Het
Adcy4 A T 14: 56,009,832 (GRCm39) M740K probably damaging Het
Atp1a2 T C 1: 172,112,012 (GRCm39) probably benign Het
Atrn T A 2: 130,812,044 (GRCm39) I663N possibly damaging Het
Cacna2d1 T C 5: 16,567,394 (GRCm39) probably null Het
Carf C A 1: 60,189,772 (GRCm39) Q631K probably damaging Het
Ces1d T C 8: 93,908,175 (GRCm39) D306G probably benign Het
Corin T A 5: 72,511,194 (GRCm39) probably benign Het
Csf1r T C 18: 61,257,373 (GRCm39) F575L probably damaging Het
Dcaf6 T C 1: 165,247,690 (GRCm39) D181G probably damaging Het
Dnah11 C T 12: 118,162,565 (GRCm39) M1I probably null Het
Dnah7b C T 1: 46,221,540 (GRCm39) R1215* probably null Het
Dpp3 T A 19: 4,965,108 (GRCm39) D464V probably benign Het
Drosha C A 15: 12,842,229 (GRCm39) A344D probably benign Het
Fat3 G T 9: 15,910,634 (GRCm39) S1789R probably benign Het
Fhip2a A T 19: 57,361,713 (GRCm39) K134I probably damaging Het
Frg2f1 T C 4: 119,388,230 (GRCm39) T90A possibly damaging Het
Frrs1 T C 3: 116,696,585 (GRCm39) I544T probably benign Het
Gm20939 T C 17: 95,184,419 (GRCm39) C356R probably damaging Het
Ifi206 T A 1: 173,301,414 (GRCm39) I755F possibly damaging Het
Kntc1 T A 5: 123,900,649 (GRCm39) V249E possibly damaging Het
Lama5 A T 2: 179,848,993 (GRCm39) L230* probably null Het
Lce1e C T 3: 92,615,137 (GRCm39) C70Y unknown Het
Ltbp2 T C 12: 84,850,638 (GRCm39) N892S probably damaging Het
Mfsd4b5 T A 10: 39,846,570 (GRCm39) M337L probably damaging Het
Noxo1 T A 17: 24,918,331 (GRCm39) C164S probably damaging Het
Or2y1b G T 11: 49,208,914 (GRCm39) M180I probably benign Het
Or5j3 G A 2: 86,128,258 (GRCm39) V33M probably benign Het
Osbpl6 T C 2: 76,354,429 (GRCm39) S15P probably benign Het
Pcdh17 A G 14: 84,770,750 (GRCm39) Y1076C probably benign Het
Pik3c2a T A 7: 115,947,509 (GRCm39) H1391L probably damaging Het
Plcg2 A G 8: 118,316,742 (GRCm39) Y573C probably benign Het
Prpf3 T A 3: 95,741,109 (GRCm39) H600L probably benign Het
Rilpl2 T C 5: 124,607,876 (GRCm39) T115A probably benign Het
Rpl15-ps6 A G 15: 52,341,446 (GRCm39) noncoding transcript Het
Serpini1 T C 3: 75,523,967 (GRCm39) S192P probably damaging Het
Sp110 G T 1: 85,523,776 (GRCm39) Y18* probably null Het
Stard6 A T 18: 70,629,293 (GRCm39) I126F probably damaging Het
Strip2 T A 6: 29,945,592 (GRCm39) L660H probably damaging Het
Tmed3 G A 9: 89,581,825 (GRCm39) R213* probably null Het
Tns1 G T 1: 73,992,099 (GRCm39) P860T probably damaging Het
Togaram1 T C 12: 65,030,177 (GRCm39) S994P probably benign Het
Tomm34 G A 2: 163,912,816 (GRCm39) probably benign Het
Trank1 G A 9: 111,218,289 (GRCm39) E1890K probably damaging Het
Wdr37 A T 13: 8,897,710 (GRCm39) probably null Het
Zbtb7c A C 18: 76,270,413 (GRCm39) D167A probably benign Het
Zkscan4 A G 13: 21,665,498 (GRCm39) T158A 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
R4837:Wasf3 UTSW 5 146,397,788 (GRCm39) missense probably benign 0.16
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'- TTGTAACTGCATCTAACCTGCTG -3'
(R):5'- AAAGGCTTGCAAAGTGACCC -3'

Sequencing Primer
(F):5'- ACTGCATCTAACCTGCTGTTTTC -3'
(R):5'- GGCTTGCAAAGTGACCCACATTC -3'
Posted On 2016-06-06