Incidental Mutation 'IGL01409:Was'
ID 79911
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: 0.300) question?
Stock # IGL01409
Quality Score
Status
Chromosome X
Chromosomal Location 7947705-7956730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 7954055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 229 (R229C)
Ref Sequence ENSEMBL: ENSMUSP00000033505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033505]
AlphaFold P70315
Predicted Effect probably damaging
Transcript: ENSMUST00000033505
AA Change: R229C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033505
Gene: ENSMUSG00000031165
AA Change: R229C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157586
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 C T 10: 85,494,029 (GRCm39) A1049V possibly damaging Het
Arhgap26 C T 18: 39,243,504 (GRCm39) probably benign Het
Asxl1 T C 2: 153,234,860 (GRCm39) probably benign Het
Atm A T 9: 53,410,471 (GRCm39) V1037E probably benign Het
Bmp6 A G 13: 38,669,865 (GRCm39) N383S probably damaging Het
Btf3l4 A C 4: 108,676,394 (GRCm39) S103R probably damaging Het
Cadps2 T C 6: 23,587,440 (GRCm39) D321G probably damaging Het
Col24a1 G A 3: 145,244,319 (GRCm39) S1531N probably benign Het
Cpb1 T A 3: 20,303,969 (GRCm39) Y365F possibly damaging Het
Dpp6 T C 5: 27,762,599 (GRCm39) Y238H probably damaging Het
Epha6 G A 16: 59,476,100 (GRCm39) R1089* probably null Het
Fga T C 3: 82,940,059 (GRCm39) F571S probably damaging Het
Focad A G 4: 88,260,542 (GRCm39) T933A unknown Het
Gm57858 T A 3: 36,080,077 (GRCm39) M227L possibly damaging Het
Gria2 A G 3: 80,615,004 (GRCm39) probably null Het
Hnrnpul1 T C 7: 25,424,077 (GRCm39) N725S unknown Het
Ik A T 18: 36,889,974 (GRCm39) K534N probably damaging Het
Itga8 T C 2: 12,196,525 (GRCm39) T631A probably benign Het
Kcnip1 G T 11: 33,580,593 (GRCm39) D214E probably benign Het
Kcnk10 A T 12: 98,456,322 (GRCm39) Y170N probably damaging Het
Lalba A G 15: 98,379,948 (GRCm39) probably null Het
Ly75 A T 2: 60,152,036 (GRCm39) probably null Het
Myh10 T C 11: 68,698,045 (GRCm39) L1629P probably damaging Het
Myo15b C A 11: 115,760,330 (GRCm39) C1127* probably null Het
Neurl4 T G 11: 69,797,925 (GRCm39) N728K probably damaging Het
Nrxn3 T A 12: 89,477,128 (GRCm39) F801Y probably damaging Het
Nup214 G T 2: 31,916,943 (GRCm39) probably null Het
Obscn G A 11: 58,921,884 (GRCm39) R6624C probably damaging Het
Or2g1 T C 17: 38,106,413 (GRCm39) F26S probably damaging Het
Pdk1 A G 2: 71,726,123 (GRCm39) T344A probably benign Het
Pitx2 C A 3: 129,008,413 (GRCm39) S63Y probably damaging Het
Ppara A C 15: 85,661,844 (GRCm39) L28F probably damaging Het
Rad54l G A 4: 115,963,074 (GRCm39) T308I probably damaging Het
Sbds T C 5: 130,282,907 (GRCm39) E7G probably damaging Het
Slc22a19 T C 19: 7,688,495 (GRCm39) I22V probably benign Het
Slfn10-ps T C 11: 82,926,322 (GRCm39) noncoding transcript Het
Spag4 T C 2: 155,911,252 (GRCm39) S396P possibly damaging Het
Spef2 C A 15: 9,716,499 (GRCm39) L362F probably damaging Het
Srebf2 A G 15: 82,055,419 (GRCm39) T208A probably damaging Het
Ssc5d A G 7: 4,945,808 (GRCm39) T947A probably benign Het
Tdp1 T C 12: 99,875,940 (GRCm39) I297T possibly damaging Het
Tent5c A T 3: 100,380,485 (GRCm39) D90E probably damaging Het
Tsen2 T C 6: 115,536,555 (GRCm39) Y104H possibly damaging Het
Other mutations in Was
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02100:Was APN X 7,956,554 (GRCm39) missense possibly damaging 0.54
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 2013-11-05