Incidental Mutation 'IGL02866:Wasf3'
ID362325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wasf3
Ensembl Gene ENSMUSG00000029636
Gene NameWAS protein family, member 3
SynonymsWave3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02866
Quality Score
Status
Chromosome5
Chromosomal Location146384985-146473615 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 146468321 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 364 (Q364K)
Ref Sequence ENSEMBL: ENSMUSP00000016143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016143]
Predicted Effect probably benign
Transcript: ENSMUST00000016143
AA Change: Q364K

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000016143
Gene: ENSMUSG00000029636
AA Change: Q364K

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
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 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A T 18: 59,048,842 M1118L possibly damaging Het
Ckmt2 A T 13: 91,858,281 L315* probably null Het
Dusp28 T A 1: 92,907,656 I154N probably benign Het
Ect2l A T 10: 18,159,817 I420N probably damaging Het
Erap1 C A 13: 74,667,999 N82K probably damaging Het
Gsdma3 A G 11: 98,629,759 D72G possibly damaging Het
Hectd1 T A 12: 51,790,613 S720C probably damaging Het
Jakmip2 T G 18: 43,552,201 E674A probably benign Het
Kcnt2 T C 1: 140,425,248 S232P probably damaging Het
Kmo T C 1: 175,653,588 S291P probably damaging Het
Kpnb1 A G 11: 97,177,286 V286A probably damaging Het
Ldah T A 12: 8,238,602 V83D probably benign Het
Mrgprb5 T A 7: 48,168,166 I274F probably damaging Het
Mum1l1 T C X: 139,235,004 V97A probably benign Het
Mycbp2 A G 14: 103,129,992 I988T probably damaging Het
Myh3 A G 11: 67,089,023 E596G probably benign Het
Ndufs1 T C 1: 63,147,141 I52V probably benign Het
Nhsl1 G T 10: 18,527,607 D1363Y probably damaging Het
Olfr1450 A G 19: 12,954,355 I255M possibly damaging Het
Olfr295 T A 7: 86,585,693 C139* probably null Het
Olfr585 C A 7: 103,098,383 T214K probably damaging Het
Olfr798 A C 10: 129,625,706 Y118* probably null Het
Pcdhb19 T C 18: 37,499,110 S653P possibly damaging Het
Plcb3 A G 19: 6,957,676 L869P probably damaging Het
Prkdc T A 16: 15,831,327 F3722I probably damaging Het
Ptprd T C 4: 76,050,437 K206R probably damaging Het
Robo3 C A 9: 37,422,306 R703L possibly damaging Het
Tob1 A T 11: 94,214,057 M140L possibly damaging Het
Ubc A T 5: 125,387,422 D280E probably benign Het
Other mutations in Wasf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Wasf3 APN 5 146455651 missense probably damaging 1.00
IGL01992:Wasf3 APN 5 146455591 missense probably damaging 1.00
FR4737:Wasf3 UTSW 5 146470250 missense probably damaging 0.99
R0622:Wasf3 UTSW 5 146466792 splice site probably null
R1083:Wasf3 UTSW 5 146435372 missense probably damaging 1.00
R1214:Wasf3 UTSW 5 146470288 missense probably damaging 1.00
R1259:Wasf3 UTSW 5 146451976 missense probably damaging 1.00
R1355:Wasf3 UTSW 5 146470208 splice site probably benign
R1370:Wasf3 UTSW 5 146470208 splice site probably benign
R1727:Wasf3 UTSW 5 146466959 missense probably benign
R4837:Wasf3 UTSW 5 146460978 missense probably benign 0.16
R5080:Wasf3 UTSW 5 146461097 missense probably benign
R6046:Wasf3 UTSW 5 146470356 missense unknown
R6386:Wasf3 UTSW 5 146453417 missense possibly damaging 0.77
R7181:Wasf3 UTSW 5 146466805 missense probably benign
R7229:Wasf3 UTSW 5 146455653 missense probably damaging 1.00
Posted On2015-12-18