Incidental Mutation 'IGL03225:Wasf2'
ID 413768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wasf2
Ensembl Gene ENSMUSG00000028868
Gene Name WASP family, member 2
Synonyms D4Ertd13e, WAVE2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03225
Quality Score
Status
Chromosome 4
Chromosomal Location 132857843-132927067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132903857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 22 (T22A)
Ref Sequence ENSEMBL: ENSMUSP00000117314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084241] [ENSMUST00000105912] [ENSMUST00000138831]
AlphaFold Q8BH43
Predicted Effect unknown
Transcript: ENSMUST00000084241
AA Change: T22A
SMART Domains Protein: ENSMUSP00000081263
Gene: ENSMUSG00000028868
AA Change: T22A

DomainStartEndE-ValueType
PDB:4N78|D 1 219 4e-90 PDB
low complexity region 243 263 N/A INTRINSIC
low complexity region 293 403 N/A INTRINSIC
low complexity region 411 419 N/A INTRINSIC
WH2 435 452 7.02e-5 SMART
low complexity region 481 497 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000105912
AA Change: T22A
SMART Domains Protein: ENSMUSP00000101532
Gene: ENSMUSG00000028868
AA Change: T22A

DomainStartEndE-ValueType
PDB:4N78|D 1 219 4e-90 PDB
low complexity region 243 263 N/A INTRINSIC
low complexity region 293 403 N/A INTRINSIC
low complexity region 411 419 N/A INTRINSIC
WH2 435 452 7.02e-5 SMART
low complexity region 481 497 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136132
Predicted Effect probably benign
Transcript: ENSMUST00000138831
AA Change: T22A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117314
Gene: ENSMUSG00000028868
AA Change: T22A

DomainStartEndE-ValueType
PDB:3P8C|D 1 85 6e-36 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158673
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. The published map location (PMID:10381382) has been changed based on recent genomic sequence comparisons, which indicate that the expressed gene is located on chromosome 1, and a pseudogene may be located on chromosome X. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutants show impaired embryonic development and do not survive to term. In addition to reduced embryo size, observed defects include hemorrhaging, abnormal somite development, perturbed angiogenesis, and shrunken cerebral ventricles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik A G 7: 50,249,668 (GRCm39) K234R probably benign Het
Adam21 T C 12: 81,606,043 (GRCm39) E573G probably benign Het
Aox4 A T 1: 58,286,386 (GRCm39) I673F possibly damaging Het
Arfgef1 A T 1: 10,224,543 (GRCm39) I1431N probably damaging Het
Cask A G X: 13,531,760 (GRCm39) M103V possibly damaging Het
Clba1 T C 12: 112,779,211 (GRCm39) Y283H probably damaging Het
Fam83h T C 15: 75,875,150 (GRCm39) E729G probably damaging Het
Gnb4 T C 3: 32,641,881 (GRCm39) T249A probably damaging Het
Gpr12 A G 5: 146,520,761 (GRCm39) S54P probably damaging Het
Krt20 A G 11: 99,322,756 (GRCm39) V293A probably damaging Het
Lonrf1 A G 8: 36,689,855 (GRCm39) V706A probably damaging Het
Lrrc58 T G 16: 37,701,632 (GRCm39) C303W probably damaging Het
Mbnl2 A G 14: 120,622,875 (GRCm39) T138A probably benign Het
Mss51 G A 14: 20,537,205 (GRCm39) R88* probably null Het
Nup214 T A 2: 31,924,423 (GRCm39) S146T probably damaging Het
Otop2 G A 11: 115,220,633 (GRCm39) R491H probably damaging Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Prkcz A T 4: 155,352,652 (GRCm39) F492I probably damaging Het
Sgtb T C 13: 104,268,453 (GRCm39) L163P probably damaging Het
Spsb3 T C 17: 25,110,045 (GRCm39) I365T possibly damaging Het
Tmem273 A G 14: 32,527,133 (GRCm39) I33M probably damaging Het
Trio T C 15: 27,902,781 (GRCm39) I227V probably benign Het
Vdac1 G A 11: 52,267,482 (GRCm39) R93H probably benign Het
Other mutations in Wasf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Wasf2 APN 4 132,919,439 (GRCm39) missense unknown
IGL02028:Wasf2 APN 4 132,923,112 (GRCm39) missense probably damaging 1.00
IGL03196:Wasf2 APN 4 132,921,732 (GRCm39) missense unknown
Syndrome UTSW 4 132,922,220 (GRCm39) critical splice donor site probably null
R1551:Wasf2 UTSW 4 132,917,483 (GRCm39) missense unknown
R1646:Wasf2 UTSW 4 132,903,902 (GRCm39) missense probably benign 0.25
R4776:Wasf2 UTSW 4 132,912,315 (GRCm39) missense probably benign
R4929:Wasf2 UTSW 4 132,923,170 (GRCm39) missense unknown
R5042:Wasf2 UTSW 4 132,903,875 (GRCm39) missense probably benign 0.37
R6803:Wasf2 UTSW 4 132,922,220 (GRCm39) critical splice donor site probably null
R6889:Wasf2 UTSW 4 132,922,041 (GRCm39) missense unknown
R7208:Wasf2 UTSW 4 132,923,045 (GRCm39) missense probably damaging 1.00
R7421:Wasf2 UTSW 4 132,912,412 (GRCm39) missense unknown
R8477:Wasf2 UTSW 4 132,912,412 (GRCm39) missense unknown
R8707:Wasf2 UTSW 4 132,917,540 (GRCm39) missense unknown
R9566:Wasf2 UTSW 4 132,921,766 (GRCm39) missense unknown
R9650:Wasf2 UTSW 4 132,917,457 (GRCm39) missense unknown
Posted On 2016-08-02