Incidental Mutation 'R3709:Was'
ID 259520
Institutional Source Beutler Lab
Gene Symbol Was
Ensembl Gene ENSMUSG00000031165
Gene Name Wiskott-Aldrich syndrome
Synonyms U42471, Wasp
MMRRC Submission 040702-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R3709 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 7947705-7956730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 7952927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 271 (S271R)
Ref Sequence ENSEMBL: ENSMUSP00000033505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033505]
AlphaFold P70315
Predicted Effect probably benign
Transcript: ENSMUST00000033505
AA Change: S271R

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000033505
Gene: ENSMUSG00000031165
AA Change: S271R

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 98% (50/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T G 11: 48,910,480 (GRCm39) D651A probably damaging Het
Abcb1a A G 5: 8,788,738 (GRCm39) N1039S probably benign Het
Abcc2 G T 19: 43,786,885 (GRCm39) V169F possibly damaging Het
Adcy8 T C 15: 64,597,384 (GRCm39) probably benign Het
Aida C A 1: 183,085,610 (GRCm39) probably null Het
Armc8 A G 9: 99,402,550 (GRCm39) I333T probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Ccdc92b C A 11: 74,528,933 (GRCm39) R146S probably damaging Het
Cdc42bpa A G 1: 179,892,628 (GRCm39) D264G probably damaging Het
Cenpf A G 1: 189,381,009 (GRCm39) S2804P possibly damaging Het
Cic A G 7: 24,986,406 (GRCm39) D1276G probably damaging Het
Cldn19 T C 4: 119,114,094 (GRCm39) S79P possibly damaging Het
Ctdp1 G A 18: 80,493,428 (GRCm39) Q356* probably null Het
Cyp2c69 A G 19: 39,839,667 (GRCm39) probably benign Het
Dhrs3 T C 4: 144,620,281 (GRCm39) probably null Het
Fhod3 T A 18: 25,223,815 (GRCm39) W1054R probably damaging Het
Gfral G A 9: 76,100,725 (GRCm39) R238* probably null Het
Gm10322 C A 10: 59,451,941 (GRCm39) D19E possibly damaging Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Idh3a T C 9: 54,493,810 (GRCm39) S4P possibly damaging Het
Il15ra G T 2: 11,735,458 (GRCm39) probably null Het
Ipo8 A T 6: 148,707,842 (GRCm39) probably null Het
Iqgap1 G A 7: 80,366,835 (GRCm39) T1595I possibly damaging Het
Kalrn C T 16: 34,212,400 (GRCm39) probably null Het
Klrb1a T C 6: 128,595,466 (GRCm39) D96G probably benign Het
Lrp1b C T 2: 40,587,454 (GRCm39) V165M unknown Het
Lrp4 A C 2: 91,320,811 (GRCm39) T975P possibly damaging Het
Lsm14a T A 7: 34,053,204 (GRCm39) I283F probably damaging Het
Mael T C 1: 166,066,135 (GRCm39) D34G probably damaging Het
Map2 C T 1: 66,455,015 (GRCm39) Q1302* probably null Het
Mctp1 T C 13: 76,972,999 (GRCm39) probably null Het
Mlxip T C 5: 123,585,537 (GRCm39) V642A probably benign Het
Myh9 T C 15: 77,657,547 (GRCm39) E1066G possibly damaging Het
Naa35 T A 13: 59,765,846 (GRCm39) probably benign Het
Nacc1 T A 8: 85,403,828 (GRCm39) I16F probably damaging Het
Ncapd3 T A 9: 26,963,645 (GRCm39) N499K probably benign Het
Or10ab4 A G 7: 107,655,004 (GRCm39) M272V possibly damaging Het
Osbpl10 C A 9: 115,036,655 (GRCm39) P253Q probably benign Het
Ptpn21 G T 12: 98,654,800 (GRCm39) S722R probably benign Het
Rab44 C T 17: 29,358,843 (GRCm39) P344S probably benign Het
Rbms2 C T 10: 127,979,312 (GRCm39) R139Q probably damaging Het
Sh3bp2 T C 5: 34,709,002 (GRCm39) Y32H probably damaging Het
Slc6a15 A G 10: 103,229,275 (GRCm39) I105V probably benign Het
Thumpd3 A G 6: 113,032,652 (GRCm39) D130G possibly damaging Het
Trib1 A G 15: 59,526,210 (GRCm39) Y260C probably damaging Het
Tsks G T 7: 44,601,309 (GRCm39) R208L possibly damaging Het
Ttn G T 2: 76,577,585 (GRCm39) S22690* probably null Het
Ttyh2 T G 11: 114,609,958 (GRCm39) S510A possibly damaging Het
Zfp267 T A 3: 36,213,725 (GRCm39) C20S possibly damaging Het
Zfp472 T A 17: 33,196,685 (GRCm39) Y253* probably null Het
Other mutations in Was
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Was APN X 7,954,055 (GRCm39) missense probably damaging 1.00
IGL02100:Was APN X 7,956,554 (GRCm39) missense possibly damaging 0.54
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
Predicted Primers PCR Primer
(F):5'- GAGGGGTAAAATGACATTTATGTGTGC -3'
(R):5'- TACTCTCCCATTGACCAAGGC -3'

Sequencing Primer
(F):5'- ACTTTGTAGACCAGGCTGAC -3'
(R):5'- ATTGACCAAGGCTCAGAGC -3'
Posted On 2015-01-23