Incidental Mutation 'IGL01992:Wasf3'
ID 183552
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wasf3
Ensembl Gene ENSMUSG00000029636
Gene Name WASP family, member 3
Synonyms Wave3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01992
Quality Score
Status
Chromosome 5
Chromosomal Location 146321795-146410425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 146392401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 157 (F157S)
Ref Sequence ENSEMBL: ENSMUSP00000016143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016143]
AlphaFold Q8VHI6
Predicted Effect probably damaging
Transcript: ENSMUST00000016143
AA Change: F157S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016143
Gene: ENSMUSG00000029636
AA Change: F157S

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano3 A G 2: 110,488,564 (GRCm39) M956T probably damaging Het
Ap2b1 T G 11: 83,226,356 (GRCm39) V289G probably damaging Het
Cacnb4 G T 2: 52,355,682 (GRCm39) H208Q probably damaging Het
Calhm6 A T 10: 34,003,533 (GRCm39) C125S probably damaging Het
Cd5l G A 3: 87,275,118 (GRCm39) R219Q probably benign Het
Dzip1l G T 9: 99,545,739 (GRCm39) G663W probably damaging Het
Ecel1 G A 1: 87,077,577 (GRCm39) probably benign Het
Eno1 A G 4: 150,323,993 (GRCm39) T19A probably damaging Het
Fndc3a G A 14: 72,811,996 (GRCm39) T315I probably benign Het
Galr1 T C 18: 82,411,942 (GRCm39) N308S probably damaging Het
Get3 G A 8: 85,745,185 (GRCm39) A294V possibly damaging Het
Maf A T 8: 116,432,702 (GRCm39) S301T probably damaging Het
Map3k5 C T 10: 19,904,879 (GRCm39) R394* probably null Het
Mroh8 C T 2: 157,055,616 (GRCm39) G994D probably damaging Het
Myo10 T C 15: 25,799,634 (GRCm39) V653A possibly damaging Het
Nucks1 A G 1: 131,858,828 (GRCm39) K196E unknown Het
Nup42 T C 5: 24,386,101 (GRCm39) V211A probably benign Het
Or4n4 C A 14: 50,518,798 (GRCm39) R304L probably benign Het
Or7e178 A T 9: 20,226,015 (GRCm39) I59N probably damaging Het
Or7g32 A T 9: 19,408,070 (GRCm39) I9F probably benign Het
Piwil1 C T 5: 128,824,396 (GRCm39) T493I probably null Het
Plcd1 T C 9: 118,905,053 (GRCm39) H216R probably benign Het
Pmp2 A T 3: 10,247,541 (GRCm39) Y49* probably null Het
Rnf38 A G 4: 44,138,806 (GRCm39) V229A probably damaging Het
Saxo2 T C 7: 82,284,108 (GRCm39) D250G probably damaging Het
Scn8a T G 15: 100,866,938 (GRCm39) V98G probably damaging Het
Scnn1a T A 6: 125,315,900 (GRCm39) probably null Het
Sepsecs C T 5: 52,801,402 (GRCm39) R420Q probably benign Het
Slit2 T C 5: 48,395,759 (GRCm39) S725P probably benign Het
Stk16 A G 1: 75,189,835 (GRCm39) Q207R probably benign Het
Tapt1 C T 5: 44,336,332 (GRCm39) V446M probably damaging Het
Tent5c A T 3: 100,379,946 (GRCm39) M270K probably damaging Het
Tex56 C T 13: 35,108,516 (GRCm39) probably null Het
Tnni3k A C 3: 154,667,663 (GRCm39) V250G probably damaging Het
Ttll8 C T 15: 88,799,848 (GRCm39) G531E possibly damaging Het
U2surp T A 9: 95,346,472 (GRCm39) E862D possibly damaging Het
U2surp A G 9: 95,364,234 (GRCm39) F561L probably damaging Het
Unc5d A G 8: 29,142,819 (GRCm39) Y878H probably damaging Het
Ust A G 10: 8,173,842 (GRCm39) M221T probably benign Het
Wdr64 G A 1: 175,533,637 (GRCm39) C91Y probably damaging Het
Zan T C 5: 137,422,368 (GRCm39) Y2750C unknown Het
Other mutations in Wasf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Wasf3 APN 5 146,392,461 (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
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
Posted On 2014-05-07