Incidental Mutation 'IGL02100:Was'
ID 279715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Was
Ensembl Gene ENSMUSG00000031165
Gene Name Wiskott-Aldrich syndrome
Synonyms U42471, Wasp
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # IGL02100
Quality Score
Status
Chromosome X
Chromosomal Location 7947705-7956730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 7956554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 38 (F38L)
Ref Sequence ENSEMBL: ENSMUSP00000033505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033505]
AlphaFold P70315
Predicted Effect possibly damaging
Transcript: ENSMUST00000033505
AA Change: F38L

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033505
Gene: ENSMUSG00000031165
AA Change: F38L

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
WH1 41 147 5.3e-42 SMART
low complexity region 174 200 N/A INTRINSIC
low complexity region 227 237 N/A INTRINSIC
PBD 240 276 2.71e-10 SMART
low complexity region 314 321 N/A INTRINSIC
WH2 448 465 6.55e-5 SMART
SCOP:d1ej5a_ 478 510 4e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146029
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant females and hemizygous mutant males exhibit reduced numbers of peripheral blood lymphocytes and platelets, but increased numbers of neutrophils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A T 3: 36,136,029 (GRCm39) Q347L probably null Het
Acvr2a T C 2: 48,788,630 (GRCm39) probably benign Het
Ankrd28 T C 14: 31,449,582 (GRCm39) probably benign Het
Atp6v1b1 A G 6: 83,735,426 (GRCm39) Y498C probably damaging Het
Cdh3 G A 8: 107,270,322 (GRCm39) V400I probably benign Het
Chrnb1 G T 11: 69,684,281 (GRCm39) probably benign Het
Col1a2 A G 6: 4,524,177 (GRCm39) probably benign Het
Cyp2j7 A G 4: 96,124,793 (GRCm39) L35P probably damaging Het
Dennd2c G A 3: 103,060,991 (GRCm39) S561N probably damaging Het
Dennd4a A T 9: 64,816,988 (GRCm39) probably benign Het
Dnai4 A G 4: 102,907,346 (GRCm39) C647R probably damaging Het
Dynll1 A C 5: 115,436,852 (GRCm39) V58G probably damaging Het
Eif3a A T 19: 60,755,442 (GRCm39) probably benign Het
Ercc6 T C 14: 32,239,052 (GRCm39) S47P probably benign Het
Fam76b A G 9: 13,755,416 (GRCm39) probably benign Het
Gbp4 T A 5: 105,269,941 (GRCm39) probably benign Het
Gdi2 T C 13: 3,606,373 (GRCm39) F140L probably benign Het
Gm28043 T C 17: 29,910,400 (GRCm39) probably null Het
Gm5117 T A 8: 32,227,412 (GRCm39) noncoding transcript Het
Gstm6 G T 3: 107,849,653 (GRCm39) N85K probably benign Het
Hip1r C T 5: 124,137,006 (GRCm39) probably benign Het
Igf1r T C 7: 67,839,706 (GRCm39) I671T probably benign Het
Insrr T G 3: 87,718,927 (GRCm39) F961C probably damaging Het
Kbtbd8 T C 6: 95,099,663 (GRCm39) Y314H probably damaging Het
Kif26b C A 1: 178,743,512 (GRCm39) L756I probably damaging Het
Lcor G A 19: 41,547,193 (GRCm39) R259Q possibly damaging Het
Mad1l1 T A 5: 140,129,689 (GRCm39) S449C probably damaging Het
Map1a T G 2: 121,133,327 (GRCm39) L1381R probably damaging Het
Mdn1 G T 4: 32,715,708 (GRCm39) V1992L possibly damaging Het
Pigp G A 16: 94,165,626 (GRCm39) Q99* probably null Het
Pip4p2 T C 4: 14,893,536 (GRCm39) I133T probably benign Het
Rgs8 A T 1: 153,568,469 (GRCm39) probably null Het
Rnf170 T A 8: 26,614,012 (GRCm39) L36H probably damaging Het
Rpap1 T C 2: 119,599,807 (GRCm39) S1004G probably benign Het
Rpl10a-ps2 T C 13: 8,990,779 (GRCm39) probably benign Het
Ryr2 T A 13: 11,752,759 (GRCm39) E1854V possibly damaging Het
Scn7a T G 2: 66,505,843 (GRCm39) *1682S probably null Het
Sema3d A G 5: 12,634,958 (GRCm39) T675A probably benign Het
Slc1a2 T C 2: 102,586,434 (GRCm39) F346S probably damaging Het
St14 G T 9: 31,011,426 (GRCm39) probably benign Het
Stard5 T C 7: 83,289,653 (GRCm39) V173A possibly damaging Het
Taf1b A G 12: 24,594,394 (GRCm39) Y309C possibly damaging Het
Tet1 T C 10: 62,648,507 (GRCm39) N1975S possibly damaging Het
Them5 T A 3: 94,251,782 (GRCm39) I131N probably damaging Het
Tnc A C 4: 63,918,398 (GRCm39) V1171G possibly damaging Het
Ttc12 C A 9: 49,351,482 (GRCm39) G672W probably damaging Het
Usp8 T C 2: 126,579,774 (GRCm39) probably benign Het
Utp4 A G 8: 107,624,807 (GRCm39) N92S probably benign Het
Other mutations in Was
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Was APN X 7,954,055 (GRCm39) missense probably damaging 1.00
R3709:Was UTSW X 7,952,927 (GRCm39) missense probably benign 0.05
R3710:Was UTSW X 7,952,927 (GRCm39) missense probably benign 0.05
R6818:Was UTSW X 7,952,450 (GRCm39) small deletion probably benign
R7601:Was UTSW X 7,952,450 (GRCm39) small deletion probably benign
RF012:Was UTSW X 7,952,470 (GRCm39) frame shift probably null
Posted On 2015-04-16