Incidental Mutation 'R4629:Wasl'
ID 349030
Institutional Source Beutler Lab
Gene Symbol Wasl
Ensembl Gene ENSMUSG00000029684
Gene Name WASP like actin nucleation promoting factor
Synonyms N-WASP, Wiskott-Aldrich syndrome-like (human), 2900021I12Rik, 3110031I02Rik
MMRRC Submission 041894-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4629 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 24613804-24665008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24637680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 71 (R71G)
Ref Sequence ENSEMBL: ENSMUSP00000031695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031695] [ENSMUST00000041737]
AlphaFold Q91YD9
PDB Structure Structure of a Longitudinal Actin Dimer Assembled by Tandem W Domains [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000031695
AA Change: R71G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031695
Gene: ENSMUSG00000029684
AA Change: R71G

DomainStartEndE-ValueType
WH1 31 135 5.14e-49 SMART
low complexity region 183 197 N/A INTRINSIC
PBD 200 236 1.28e-11 SMART
low complexity region 273 388 N/A INTRINSIC
WH2 401 418 3.71e-4 SMART
WH2 429 446 1.43e-5 SMART
low complexity region 482 501 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000041737
AA Change: R71G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043968
Gene: ENSMUSG00000029684
AA Change: R71G

DomainStartEndE-ValueType
WH1 31 135 5.14e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173399
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutants exhibit developmental retardation, fail to undergo turning, show abnormal differentiation of intra- and extra-embryonal mesoderm, and die around midgestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik T C 9: 114,108,419 (GRCm39) noncoding transcript Het
Abca6 T C 11: 110,121,375 (GRCm39) probably null Het
Adam22 A G 5: 8,282,663 (GRCm39) S111P possibly damaging Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alg10b C T 15: 90,111,948 (GRCm39) A264V probably benign Het
Angpt1 T A 15: 42,301,796 (GRCm39) Y404F probably benign Het
Apol7c A G 15: 77,410,595 (GRCm39) F117S probably damaging Het
Asic5 T A 3: 81,913,811 (GRCm39) Y162N probably damaging Het
Cacna2d2 A T 9: 107,404,521 (GRCm39) E1104V probably damaging Het
Cad G A 5: 31,227,639 (GRCm39) V1263I probably damaging Het
Cdc20 T C 4: 118,290,761 (GRCm39) E413G probably damaging Het
Cfap46 A T 7: 139,260,843 (GRCm39) L85Q probably damaging Het
Cnot6l A G 5: 96,225,070 (GRCm39) V541A probably benign Het
Cubn T A 2: 13,318,790 (GRCm39) probably null Het
Cx3cr1 T C 9: 119,880,730 (GRCm39) N224S probably damaging Het
Fam98c T C 7: 28,854,693 (GRCm39) T49A possibly damaging Het
Fez2 C T 17: 78,710,183 (GRCm39) S202N probably benign Het
Fras1 A G 5: 96,924,593 (GRCm39) N3678S probably benign Het
Glyr1 A G 16: 4,854,907 (GRCm39) V57A possibly damaging Het
Gm5617 T A 9: 48,407,187 (GRCm39) L107Q possibly damaging Het
Gpnmb A G 6: 49,027,994 (GRCm39) D401G possibly damaging Het
Gtpbp6 C A 5: 110,254,774 (GRCm39) V100L possibly damaging Het
Gucy1a1 A G 3: 82,004,931 (GRCm39) V618A probably damaging Het
H6pd A T 4: 150,080,803 (GRCm39) M14K probably benign Het
Hectd4 A G 5: 121,435,266 (GRCm39) M993V probably benign Het
Kat14 A G 2: 144,246,140 (GRCm39) probably benign Het
Kctd21 A G 7: 96,996,782 (GRCm39) D85G probably damaging Het
Kera A G 10: 97,445,493 (GRCm39) N284S probably benign Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lama1 A G 17: 68,112,355 (GRCm39) probably null Het
Lgr6 T C 1: 135,032,670 (GRCm39) Y70C probably damaging Het
Lipg T A 18: 75,081,107 (GRCm39) K325* probably null Het
Lrrc43 T C 5: 123,637,583 (GRCm39) L250P probably damaging Het
Lyz1 C T 10: 117,127,041 (GRCm39) R65H probably benign Het
Marchf10 T A 11: 105,280,664 (GRCm39) L540F probably benign Het
Maz G T 7: 126,624,519 (GRCm39) H334N possibly damaging Het
Myh1 A G 11: 67,100,119 (GRCm39) K646R probably benign Het
Nf2 A T 11: 4,798,915 (GRCm39) V24E probably damaging Het
Nup210l T C 3: 90,075,182 (GRCm39) S831P probably benign Het
Nup210l C T 3: 90,098,181 (GRCm39) R1378* probably null Het
Or13a17 T A 7: 140,271,291 (GRCm39) S158T probably benign Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Palb2 A C 7: 121,727,189 (GRCm39) I227S possibly damaging Het
Pate3 A T 9: 35,557,453 (GRCm39) C68S probably damaging Het
Pcdha12 T A 18: 37,154,926 (GRCm39) N548K probably damaging Het
Prdm10 C T 9: 31,248,612 (GRCm39) Q345* probably null Het
Ptx4 A T 17: 25,341,737 (GRCm39) N71Y probably damaging Het
Rab42 C T 4: 132,030,548 (GRCm39) R34Q probably benign Het
Rergl A G 6: 139,478,850 (GRCm39) V8A probably damaging Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Rpia A G 6: 70,743,578 (GRCm39) M291T possibly damaging Het
Rplp0 G A 5: 115,699,482 (GRCm39) probably null Het
Rrp12 A T 19: 41,871,955 (GRCm39) I443N probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Saxo1 T C 4: 86,406,064 (GRCm39) Y45C probably damaging Het
Sec24a A T 11: 51,612,640 (GRCm39) probably null Het
Setdb2 A G 14: 59,646,808 (GRCm39) V585A probably benign Het
Sik1 T C 17: 32,068,581 (GRCm39) E347G probably benign Het
Srbd1 T C 17: 86,428,100 (GRCm39) T378A probably damaging Het
Tacr1 A G 6: 82,380,861 (GRCm39) T91A probably benign Het
Tas2r135 T A 6: 42,383,160 (GRCm39) M233K probably benign Het
Tfg A T 16: 56,533,039 (GRCm39) M40K probably damaging Het
Tmem35b C T 4: 127,022,796 (GRCm39) P133S probably benign Het
Tmtc2 A T 10: 105,139,511 (GRCm39) S672T probably benign Het
Trpv3 A T 11: 73,172,615 (GRCm39) K253N probably damaging Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Unc13a A G 8: 72,106,097 (GRCm39) M669T possibly damaging Het
Vmn1r61 T A 7: 5,614,249 (GRCm39) I22F probably benign Het
Vmn2r26 A T 6: 124,038,150 (GRCm39) Q575L possibly damaging Het
Vmn2r81 A T 10: 79,103,276 (GRCm39) E156D probably damaging Het
Vwa3a T A 7: 120,392,598 (GRCm39) N812K probably benign Het
Wdfy4 A T 14: 32,824,515 (GRCm39) N1301K probably damaging Het
Zfp827 G A 8: 79,787,011 (GRCm39) R59Q probably damaging Het
Zfp87 A G 13: 74,520,512 (GRCm39) C189R probably damaging Het
Other mutations in Wasl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02262:Wasl APN 6 24,619,186 (GRCm39) missense unknown
IGL02550:Wasl APN 6 24,633,883 (GRCm39) missense probably damaging 1.00
R0211:Wasl UTSW 6 24,633,892 (GRCm39) missense probably damaging 1.00
R0211:Wasl UTSW 6 24,633,892 (GRCm39) missense probably damaging 1.00
R2012:Wasl UTSW 6 24,624,360 (GRCm39) missense probably damaging 1.00
R2103:Wasl UTSW 6 24,618,377 (GRCm39) missense unknown
R2762:Wasl UTSW 6 24,619,500 (GRCm39) missense unknown
R4726:Wasl UTSW 6 24,633,110 (GRCm39) missense probably benign 0.04
R6001:Wasl UTSW 6 24,619,573 (GRCm39) missense unknown
R7109:Wasl UTSW 6 24,633,186 (GRCm39) missense probably benign 0.08
R7336:Wasl UTSW 6 24,619,686 (GRCm39) missense unknown
R7539:Wasl UTSW 6 24,619,197 (GRCm39) missense unknown
R7849:Wasl UTSW 6 24,633,922 (GRCm39) missense possibly damaging 0.52
R7860:Wasl UTSW 6 24,619,396 (GRCm39) missense unknown
R8016:Wasl UTSW 6 24,634,594 (GRCm39) missense probably damaging 1.00
R8732:Wasl UTSW 6 24,619,209 (GRCm39) missense unknown
R9186:Wasl UTSW 6 24,664,615 (GRCm39) missense probably damaging 0.97
R9748:Wasl UTSW 6 24,619,533 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CGGTTCCAATATCCCTATTGAGG -3'
(R):5'- ACATGGACTTGGTATTTGTAAGTGC -3'

Sequencing Primer
(F):5'- GGTATCAACAACAATCCTCACTTTTC -3'
(R):5'- CTCTTTCAGGAAGCTAGTGCG -3'
Posted On 2015-10-08