Incidental Mutation 'R6889:Wasf1'
ID 537119
Institutional Source Beutler Lab
Gene Symbol Wasf1
Ensembl Gene ENSMUSG00000019831
Gene Name WAS protein family, member 1
Synonyms WAVE-1, Scar, WAVE
MMRRC Submission 044983-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R6889 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 40883475-40938570 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40920369 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 32 (I32F)
Ref Sequence ENSEMBL: ENSMUSP00000101148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019975] [ENSMUST00000105509]
AlphaFold Q8R5H6
Predicted Effect probably damaging
Transcript: ENSMUST00000019975
AA Change: I32F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019975
Gene: ENSMUSG00000019831
AA Change: I32F

PDB:4N78|D 1 320 N/A PDB
low complexity region 321 401 N/A INTRINSIC
low complexity region 423 435 N/A INTRINSIC
low complexity region 462 482 N/A INTRINSIC
WH2 497 514 4.32e-5 SMART
low complexity region 544 556 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105509
AA Change: I32F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101148
Gene: ENSMUSG00000019831
AA Change: I32F

PDB:4N78|D 1 320 N/A PDB
low complexity region 321 401 N/A INTRINSIC
low complexity region 423 435 N/A INTRINSIC
low complexity region 462 482 N/A INTRINSIC
WH2 497 514 4.32e-5 SMART
low complexity region 544 556 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutation of this gene has been associated with both morphological and functional defects of the central nervous system. Targeted mutagenesis has resulted in mice that display sensorimotor and cognitive defects similar to those exhibited by patients with 3p-syndrome mental retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,943,053 (GRCm38) D103E probably benign Het
Abcc3 A T 11: 94,375,555 (GRCm38) S70T possibly damaging Het
Atp6v0a1 A G 11: 101,029,183 (GRCm38) Y214C possibly damaging Het
Azi2 A G 9: 118,049,895 (GRCm38) probably null Het
BC067074 C A 13: 113,318,378 (GRCm38) S319R probably damaging Het
Cacnb2 T A 2: 14,986,015 (GRCm38) V636E possibly damaging Het
Cd8a A C 6: 71,374,562 (GRCm38) T169P probably damaging Het
Cfap44 G A 16: 44,404,132 (GRCm38) V68I probably benign Het
Eea1 G T 10: 96,037,478 (GRCm38) C1134F probably benign Het
Ehmt2 T G 17: 34,912,772 (GRCm38) F1192V probably damaging Het
Emc1 T C 4: 139,365,350 (GRCm38) F531L probably damaging Het
Eme1 G A 11: 94,650,477 (GRCm38) T173I probably benign Het
Gli2 A T 1: 118,844,416 (GRCm38) C520S probably damaging Het
Gm43302 T C 5: 105,280,138 (GRCm38) K186E probably benign Het
Gpr108 A T 17: 57,236,990 (GRCm38) N405K probably damaging Het
Hmgcl C A 4: 135,955,642 (GRCm38) T135N probably benign Het
Hydin G A 8: 110,532,856 (GRCm38) D2487N possibly damaging Het
Igfl3 G T 7: 18,179,800 (GRCm38) R25L probably benign Het
Igsf10 A C 3: 59,331,933 (GRCm38) S276A probably benign Het
Kctd1 A G 18: 14,973,988 (GRCm38) S211P probably damaging Het
Kctd7 A T 5: 130,152,501 (GRCm38) Q255L probably benign Het
Lrig1 A G 6: 94,625,063 (GRCm38) Y270H probably benign Het
Muc5ac C T 7: 141,809,744 (GRCm38) probably benign Het
Myh15 A G 16: 49,153,111 (GRCm38) N1248S possibly damaging Het
Nod1 A G 6: 54,944,109 (GRCm38) F408S probably benign Het
Nrp1 T C 8: 128,493,057 (GRCm38) F652S probably damaging Het
Olfr1338 G A 4: 118,754,307 (GRCm38) T79I probably damaging Het
Olfr487 A T 7: 108,211,918 (GRCm38) F204I probably benign Het
Olfr574 A T 7: 102,948,768 (GRCm38) H91L possibly damaging Het
Olfr821 T C 10: 130,034,532 (GRCm38) M302T probably benign Het
Opa1 G T 16: 29,620,868 (GRCm38) R792L probably benign Het
Pcdha6 G T 18: 36,968,343 (GRCm38) L196F probably damaging Het
Pdia2 A T 17: 26,196,970 (GRCm38) Y347* probably null Het
Pdpr G T 8: 111,124,613 (GRCm38) probably null Het
Pigt T A 2: 164,507,331 (GRCm38) L518Q probably damaging Het
Ppfibp2 A C 7: 107,737,981 (GRCm38) D591A possibly damaging Het
Prrg2 G A 7: 45,059,989 (GRCm38) T97M possibly damaging Het
Qars A G 9: 108,513,183 (GRCm38) T428A probably damaging Het
Rai1 T C 11: 60,185,715 (GRCm38) F202L probably damaging Het
Rars A T 11: 35,808,486 (GRCm38) M660K probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,579,925 (GRCm38) probably benign Het
Slc16a6 A C 11: 109,455,040 (GRCm38) F382V probably damaging Het
Slc30a7 T C 3: 115,954,153 (GRCm38) T330A probably damaging Het
Smc1b A T 15: 85,067,759 (GRCm38) L1157Q probably damaging Het
Snx4 G T 16: 33,251,470 (GRCm38) A4S possibly damaging Het
Sv2b A C 7: 75,125,767 (GRCm38) probably null Het
Syt9 A T 7: 107,425,286 (GRCm38) I129L probably damaging Het
Ttbk2 T C 2: 120,773,353 (GRCm38) E198G probably damaging Het
Ubr3 A T 2: 69,944,300 (GRCm38) D488V possibly damaging Het
Ush2a T A 1: 188,797,871 (GRCm38) C3286S probably damaging Het
Vill A G 9: 119,065,882 (GRCm38) D56G possibly damaging Het
Vmn1r41 A T 6: 89,747,370 (GRCm38) I298F probably damaging Het
Vmn2r2 A T 3: 64,117,267 (GRCm38) V631D probably damaging Het
Vmn2r32 A G 7: 7,472,574 (GRCm38) S437P possibly damaging Het
Vmn2r53 A G 7: 12,601,142 (GRCm38) V197A probably benign Het
Wasf2 G T 4: 133,194,730 (GRCm38) A387S unknown Het
Wdr92 G A 11: 17,222,309 (GRCm38) V133M probably damaging Het
Zbtb14 G A 17: 69,387,679 (GRCm38) C124Y probably damaging Het
Zfp462 G T 4: 55,007,671 (GRCm38) A37S probably damaging Het
Zfp532 A G 18: 65,686,990 (GRCm38) E882G possibly damaging Het
Other mutations in Wasf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Wasf1 APN 10 40,920,297 (GRCm38) missense probably damaging 1.00
IGL01978:Wasf1 APN 10 40,936,201 (GRCm38) missense unknown
IGL02265:Wasf1 APN 10 40,936,441 (GRCm38) missense unknown
IGL02565:Wasf1 APN 10 40,936,132 (GRCm38) missense possibly damaging 0.70
IGL02741:Wasf1 APN 10 40,930,709 (GRCm38) missense probably damaging 1.00
IGL03037:Wasf1 APN 10 40,930,658 (GRCm38) missense probably benign 0.42
potatoes UTSW 10 40,926,620 (GRCm38) critical splice donor site probably null
K3955:Wasf1 UTSW 10 40,936,195 (GRCm38) missense unknown
R0652:Wasf1 UTSW 10 40,931,906 (GRCm38) splice site probably null
R1276:Wasf1 UTSW 10 40,936,526 (GRCm38) missense unknown
R1774:Wasf1 UTSW 10 40,934,479 (GRCm38) missense possibly damaging 0.50
R1813:Wasf1 UTSW 10 40,926,589 (GRCm38) missense probably damaging 1.00
R3607:Wasf1 UTSW 10 40,936,384 (GRCm38) missense unknown
R4418:Wasf1 UTSW 10 40,936,582 (GRCm38) missense unknown
R4952:Wasf1 UTSW 10 40,936,190 (GRCm38) missense unknown
R4997:Wasf1 UTSW 10 40,934,604 (GRCm38) missense probably damaging 0.96
R5178:Wasf1 UTSW 10 40,937,676 (GRCm38) missense unknown
R5718:Wasf1 UTSW 10 40,926,574 (GRCm38) missense probably damaging 1.00
R5789:Wasf1 UTSW 10 40,926,574 (GRCm38) missense probably damaging 1.00
R5791:Wasf1 UTSW 10 40,926,574 (GRCm38) missense probably damaging 1.00
R5839:Wasf1 UTSW 10 40,936,319 (GRCm38) missense unknown
R6247:Wasf1 UTSW 10 40,937,745 (GRCm38) missense unknown
R6688:Wasf1 UTSW 10 40,926,620 (GRCm38) critical splice donor site probably null
R6977:Wasf1 UTSW 10 40,926,585 (GRCm38) missense probably damaging 0.97
R7023:Wasf1 UTSW 10 40,936,475 (GRCm38) missense unknown
R7136:Wasf1 UTSW 10 40,926,591 (GRCm38) missense possibly damaging 0.91
R7224:Wasf1 UTSW 10 40,926,550 (GRCm38) missense probably benign 0.17
R8558:Wasf1 UTSW 10 40,930,652 (GRCm38) missense possibly damaging 0.88
R9023:Wasf1 UTSW 10 40,934,575 (GRCm38) missense possibly damaging 0.70
R9731:Wasf1 UTSW 10 40,930,735 (GRCm38) missense probably damaging 1.00
R9800:Wasf1 UTSW 10 40,936,697 (GRCm38) missense unknown
X0025:Wasf1 UTSW 10 40,936,697 (GRCm38) missense unknown
X0067:Wasf1 UTSW 10 40,937,657 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-10-18