Incidental Mutation 'R7539:Wasl'
ID 583773
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 045611-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7539 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 24613804-24665008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24619197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 441 (I441N)
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: I441N
SMART Domains Protein: ENSMUSP00000031695
Gene: ENSMUSG00000029684
AA Change: I441N

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (63/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930516K23Rik T C 7: 103,708,470 (GRCm39) E113G probably damaging Het
Abcf3 T C 16: 20,371,382 (GRCm39) probably null Het
Agbl1 T C 7: 76,075,677 (GRCm39) probably null Het
Ap5m1 C A 14: 49,311,014 (GRCm39) P28Q probably damaging Het
Bet1l T C 7: 140,434,457 (GRCm39) D83G probably benign Het
Birc6 T C 17: 74,956,691 (GRCm39) S3571P probably damaging Het
Bod1l A T 5: 41,975,203 (GRCm39) M2037K possibly damaging Het
Ccdc80 A T 16: 44,915,445 (GRCm39) E67V probably benign Het
Cep112 A G 11: 108,746,654 (GRCm39) M133V probably benign Het
Ckmt2 C A 13: 92,008,063 (GRCm39) D224Y probably damaging Het
Cplane1 A G 15: 8,230,728 (GRCm39) I1002V probably benign Het
Crb1 T G 1: 139,175,967 (GRCm39) K672T probably damaging Het
Dnhd1 T C 7: 105,370,119 (GRCm39) S4515P probably damaging Het
Dock9 A G 14: 121,818,848 (GRCm39) S1545P probably damaging Het
Dop1a T G 9: 86,403,626 (GRCm39) S145A probably benign Het
Eps8l1 T C 7: 4,473,036 (GRCm39) S92P probably damaging Het
Faap100 T C 11: 120,268,464 (GRCm39) D103G possibly damaging Het
Fech T A 18: 64,616,565 (GRCm39) probably null Het
Folh1 T A 7: 86,375,117 (GRCm39) E623V probably benign Het
Galnt5 T C 2: 57,925,242 (GRCm39) L841P probably damaging Het
Ggh C G 4: 20,049,833 (GRCm39) S88C probably damaging Het
Gm10577 C T 4: 100,877,893 (GRCm39) V1I unknown Het
Grip1 T A 10: 119,890,776 (GRCm39) H938Q probably benign Het
Gucy2g G A 19: 55,191,586 (GRCm39) A955V probably damaging Het
Hpd G C 5: 123,316,255 (GRCm39) Y165* probably null Het
Iqsec1 C A 6: 90,639,873 (GRCm39) R955L probably benign Het
Masp1 A T 16: 23,289,128 (GRCm39) H557Q possibly damaging Het
Muc4 C T 16: 32,576,770 (GRCm39) T20M Het
Myo16 T C 8: 10,411,095 (GRCm39) probably null Het
Nfkb2 T C 19: 46,296,662 (GRCm39) F273L possibly damaging Het
Nherf2 G T 17: 24,860,873 (GRCm39) A223D probably damaging Het
Or11l3 A T 11: 58,516,782 (GRCm39) I29N probably damaging Het
Or1l8 T C 2: 36,817,221 (GRCm39) R302G probably benign Het
Or2a56 T C 6: 42,933,037 (GRCm39) C202R possibly damaging Het
Or4k49 T C 2: 111,494,778 (GRCm39) V69A possibly damaging Het
Or52ab7 A G 7: 102,977,701 (GRCm39) S3G probably benign Het
Or52e3 T C 7: 102,869,273 (GRCm39) V116A possibly damaging Het
Or5b124 C T 19: 13,610,933 (GRCm39) Q153* probably null Het
Or6c2 A T 10: 129,362,974 (GRCm39) K293* probably null Het
Or6c69 T C 10: 129,747,932 (GRCm39) T72A probably damaging Het
Or7e174 A T 9: 20,012,915 (GRCm39) M287L probably benign Het
Parp4 T A 14: 56,873,212 (GRCm39) I1152N probably damaging Het
Peg3 T C 7: 6,711,167 (GRCm39) T1352A probably benign Het
Pik3c2a T C 7: 115,939,331 (GRCm39) N1669S probably damaging Het
Pinx1 A T 14: 64,156,655 (GRCm39) Q194L probably benign Het
Podxl2 A C 6: 88,826,311 (GRCm39) S268A probably benign Het
Polr2c C A 8: 95,597,407 (GRCm39) H363N unknown Het
Prlr C T 15: 10,329,109 (GRCm39) T528I probably benign Het
Rab37 A C 11: 115,051,487 (GRCm39) Q198P probably benign Het
Rrm2b T A 15: 37,937,595 (GRCm39) probably null Het
Serpina3b T C 12: 104,096,970 (GRCm39) S84P possibly damaging Het
Stat4 A T 1: 52,110,868 (GRCm39) probably null Het
Them6 T C 15: 74,595,349 (GRCm39) I185T probably damaging Het
Tmco4 T A 4: 138,749,010 (GRCm39) M316K probably benign Het
Tmtc4 G T 14: 123,215,701 (GRCm39) probably null Het
Tnni3k A T 3: 154,667,668 (GRCm39) N248K probably benign Het
Trim43a T A 9: 88,465,096 (GRCm39) L141Q probably benign Het
Utp20 C T 10: 88,627,607 (GRCm39) V953M probably damaging Het
Vmn2r118 T A 17: 55,899,853 (GRCm39) T684S probably damaging Het
Wfikkn2 T C 11: 94,133,185 (GRCm39) D64G probably damaging Het
Zfp128 C A 7: 12,624,479 (GRCm39) Y282* probably null 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
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
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'- TGTACTCCCCTGTTTAGTAGGTAG -3'
(R):5'- ATCTATGGCAGGGTCCACAG -3'

Sequencing Primer
(F):5'- CTATCAGATCAGTGACTGTTGGAAGC -3'
(R):5'- GGGTCCACAGCACCACC -3'
Posted On 2019-10-17