Incidental Mutation 'R6001:Wasl'
ID 480824
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 044180-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6001 (G1)
Quality Score 147.008
Status Not validated
Chromosome 6
Chromosomal Location 24613804-24665008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24619573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 316 (T316A)
Ref Sequence ENSEMBL: ENSMUSP00000031695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031695]
AlphaFold Q91YD9
PDB Structure Structure of a Longitudinal Actin Dimer Assembled by Tandem W Domains [X-RAY DIFFRACTION]
Predicted Effect unknown
Transcript: ENSMUST00000031695
AA Change: T316A
SMART Domains Protein: ENSMUSP00000031695
Gene: ENSMUSG00000029684
AA Change: T316A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.8%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G T 4: 53,075,555 (GRCm39) R999S possibly damaging Het
Ankrd31 T A 13: 96,962,717 (GRCm39) Y503N probably damaging Het
Anks4b A G 7: 119,781,941 (GRCm39) E324G probably benign Het
Arhgap44 CTGCT CTGCTTGCT 11: 64,922,910 (GRCm39) probably null Het
Atl1 A T 12: 69,979,057 (GRCm39) T162S possibly damaging Het
Atp2b2 A G 6: 113,770,728 (GRCm39) Y394H probably damaging Het
Dennd2d A G 3: 106,399,776 (GRCm39) H233R probably benign Het
Dhx16 G T 17: 36,194,766 (GRCm39) M462I probably damaging Het
Hif3a T C 7: 16,784,486 (GRCm39) Y253C probably damaging Het
Hsf4 G A 8: 105,999,541 (GRCm39) G277R possibly damaging Het
Impg1 T C 9: 80,223,454 (GRCm39) D754G probably benign Het
Keap1 T C 9: 21,142,135 (GRCm39) S580G possibly damaging Het
Lrp6 T C 6: 134,441,481 (GRCm39) K1162E probably benign Het
Lrrc31 C T 3: 30,745,318 (GRCm39) V110I possibly damaging Het
Muc5b G T 7: 141,426,118 (GRCm39) K4738N possibly damaging Het
Myo1a G T 10: 127,542,794 (GRCm39) probably null Het
Odad2 T C 18: 7,286,838 (GRCm39) D131G probably benign Het
Or10q1b A G 19: 13,682,424 (GRCm39) T78A probably damaging Het
Or52z14 T A 7: 103,253,179 (GRCm39) M106K probably damaging Het
Or7g19 A T 9: 18,856,340 (GRCm39) Y132F probably damaging Het
Parp4 A T 14: 56,878,740 (GRCm39) H1225L probably benign Het
Pcgf2 T C 11: 97,583,606 (GRCm39) Y52C possibly damaging Het
Pkn3 T C 2: 29,978,596 (GRCm39) probably null Het
Psen2 C A 1: 180,073,234 (GRCm39) R29L possibly damaging Het
Rfx6 A G 10: 51,594,307 (GRCm39) probably null Het
Rps13 T C 7: 115,930,808 (GRCm39) T145A probably benign Het
Rsf1 A ACGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Smarca4 C T 9: 21,544,205 (GRCm39) probably benign Het
Stat4 A T 1: 52,136,026 (GRCm39) E445V probably damaging Het
Taf13 T A 3: 108,488,387 (GRCm39) I90N probably damaging Het
Tas2r124 T A 6: 132,732,416 (GRCm39) Y242N probably damaging Het
Tmem151b T C 17: 45,856,711 (GRCm39) Y243C probably damaging Het
Zbtb44 T C 9: 30,965,090 (GRCm39) C167R probably damaging Het
Zc3h7b T C 15: 81,676,236 (GRCm39) L714P possibly damaging Het
Zfp35 T A 18: 24,135,816 (GRCm39) H53Q probably benign Het
Zfp804b A G 5: 6,819,043 (GRCm39) V1340A probably benign 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
R4629:Wasl UTSW 6 24,637,680 (GRCm39) missense probably damaging 1.00
R4726:Wasl UTSW 6 24,633,110 (GRCm39) missense probably benign 0.04
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'- TGGTCACCATCAGAAGGCAG -3'
(R):5'- CCCTAGGGCATGCTAAACAAAG -3'

Sequencing Primer
(F):5'- CCATCAGAAGGCAGGCCAG -3'
(R):5'- CACAGCTGTGCATATATGGGCTC -3'
Posted On 2017-06-26