Incidental Mutation 'R4952:Wasf1'
ID 382071
Institutional Source Beutler Lab
Gene Symbol Wasf1
Ensembl Gene ENSMUSG00000019831
Gene Name WASP family, member 1
Synonyms Scar, WAVE, WAVE-1
MMRRC Submission 042549-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R4952 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 40759476-40814565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 40812186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 325 (P325Q)
Ref Sequence ENSEMBL: ENSMUSP00000101148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019975] [ENSMUST00000105509]
AlphaFold Q8R5H6
Predicted Effect unknown
Transcript: ENSMUST00000019975
AA Change: P325Q
SMART Domains Protein: ENSMUSP00000019975
Gene: ENSMUSG00000019831
AA Change: P325Q

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000105509
AA Change: P325Q
SMART Domains Protein: ENSMUSP00000101148
Gene: ENSMUSG00000019831
AA Change: P325Q

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0865 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 99% (93/94)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,887,063 (GRCm39) probably null Het
4933421I07Rik T C 7: 42,097,083 (GRCm39) Y76C possibly damaging Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Ak9 A G 10: 41,296,585 (GRCm39) M1444V probably benign Het
Amfr A G 8: 94,699,787 (GRCm39) probably benign Het
Ankef1 A G 2: 136,392,449 (GRCm39) E546G probably damaging Het
Ankrd24 A G 10: 81,482,982 (GRCm39) M977V probably benign Het
Ap3m1 A T 14: 21,090,134 (GRCm39) S5T probably benign Het
Aqr C A 2: 113,940,418 (GRCm39) D1243Y probably damaging Het
Arhgef2 T C 3: 88,549,769 (GRCm39) L591P probably damaging Het
Arid4a C A 12: 71,070,299 (GRCm39) T70K possibly damaging Het
Asphd1 C T 7: 126,547,857 (GRCm39) A149T probably benign Het
Avpr1a T A 10: 122,285,659 (GRCm39) M317K probably damaging Het
Birc2 T C 9: 7,836,741 (GRCm39) I109V probably damaging Het
Catsperd A G 17: 56,939,303 (GRCm39) Y44C probably damaging Het
Crygb T G 1: 65,121,268 (GRCm39) S20R probably benign Het
Cyp3a25 T C 5: 145,928,334 (GRCm39) N237S probably benign Het
Dkk3 C T 7: 111,717,558 (GRCm39) A304T probably benign Het
Dst T C 1: 34,310,503 (GRCm39) L4101S probably damaging Het
Dysf A G 6: 84,126,968 (GRCm39) N1407S possibly damaging Het
Epb41 A G 4: 131,727,581 (GRCm39) V265A probably damaging Het
Faim2 C T 15: 99,419,109 (GRCm39) E75K possibly damaging Het
Fam237b T A 5: 5,625,387 (GRCm39) F28I probably benign Het
Fbn1 T A 2: 125,159,454 (GRCm39) D2208V probably damaging Het
Fbxo28 A G 1: 182,153,950 (GRCm39) S129P probably damaging Het
Fbxw14 T A 9: 109,105,269 (GRCm39) I299L probably benign Het
Fras1 C T 5: 96,795,357 (GRCm39) A1050V probably benign Het
Fyb1 C A 15: 6,668,292 (GRCm39) T495K probably damaging Het
Ghdc A T 11: 100,659,977 (GRCm39) W257R probably damaging Het
Gm10719 T C 9: 3,018,962 (GRCm39) L69S probably benign Het
Gm12250 G T 11: 58,079,210 (GRCm39) noncoding transcript Het
Gm4846 A T 1: 166,311,503 (GRCm39) F452Y probably damaging Het
Gpbp1 T C 13: 111,577,284 (GRCm39) D202G probably damaging Het
Gpd2 C A 2: 57,197,025 (GRCm39) Y193* probably null Het
Grhl2 G T 15: 37,287,493 (GRCm39) R229L probably benign Het
Gtf2a1 A G 12: 91,542,523 (GRCm39) F59L possibly damaging Het
Heatr1 G T 13: 12,425,480 (GRCm39) W640L probably benign Het
Kalrn A T 16: 34,177,785 (GRCm39) probably null Het
Keap1 T C 9: 21,148,582 (GRCm39) T142A probably damaging Het
Kpna2 G A 11: 106,882,061 (GRCm39) T255M probably damaging Het
Kpna3 A G 14: 61,607,838 (GRCm39) C456R probably damaging Het
Lama1 G A 17: 68,074,561 (GRCm39) probably null Het
Lrrc37 T C 11: 103,505,033 (GRCm39) T2312A possibly damaging Het
Mag C A 7: 30,608,581 (GRCm39) E178* probably null Het
Map3k13 A G 16: 21,729,769 (GRCm39) I467V probably benign Het
Mga A G 2: 119,733,782 (GRCm39) E210G probably damaging Het
Msi2 C T 11: 88,257,610 (GRCm39) probably null Het
Naa16 A T 14: 79,582,525 (GRCm39) D521E probably damaging Het
Nav2 C T 7: 48,954,288 (GRCm39) probably benign Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nek5 T C 8: 22,586,815 (GRCm39) K332R probably benign Het
Nek5 T A 8: 22,569,104 (GRCm39) I573L probably benign Het
Ntn1 CCTTCTTCT CCTTCT 11: 68,103,852 (GRCm39) probably benign Het
Odad1 A C 7: 45,591,615 (GRCm39) E293A probably damaging Het
Or2w1 G A 13: 21,317,514 (GRCm39) V190I probably benign Het
Or5v1b A T 17: 37,841,641 (GRCm39) T258S possibly damaging Het
Or6c204 T A 10: 129,022,466 (GRCm39) T275S probably benign Het
Or8b12b T A 9: 37,684,360 (GRCm39) M135K probably damaging Het
Orai1 T G 5: 123,167,313 (GRCm39) V162G probably damaging Het
P2rx6 T C 16: 17,385,308 (GRCm39) S134P probably damaging Het
Pappa2 G A 1: 158,684,706 (GRCm39) T811I probably null Het
Pcdhga10 T C 18: 37,880,213 (GRCm39) probably benign Het
Pex16 C T 2: 92,209,405 (GRCm39) R241* probably null Het
Plxnb1 T C 9: 108,943,904 (GRCm39) F1969L probably damaging Het
Postn A G 3: 54,297,736 (GRCm39) probably benign Het
Prdm15 A T 16: 97,607,277 (GRCm39) I752N probably damaging Het
Rasgef1c A T 11: 49,870,339 (GRCm39) K468M probably damaging Het
Rbfox1 A G 16: 7,094,952 (GRCm39) S111G probably benign Het
Rbm28 T C 6: 29,138,597 (GRCm39) D405G probably damaging Het
Rell1 A G 5: 64,097,010 (GRCm39) probably benign Het
Rfx3 A G 19: 27,808,072 (GRCm39) S224P probably damaging Het
Scarb2 A T 5: 92,602,636 (GRCm39) I260K probably damaging Het
Septin4 A G 11: 87,458,598 (GRCm39) N324S probably benign Het
Slc15a4 A G 5: 127,680,901 (GRCm39) F72L probably damaging Het
Spg7 C A 8: 123,816,910 (GRCm39) R534S probably damaging Het
Stoml2 T C 4: 43,029,589 (GRCm39) T164A probably benign Het
Syt11 C T 3: 88,669,590 (GRCm39) G101S possibly damaging Het
Traj12 A G 14: 54,444,013 (GRCm39) probably benign Het
Traj7 A T 14: 54,448,981 (GRCm39) probably benign Het
Tysnd1 C T 10: 61,537,855 (GRCm39) T175I possibly damaging Het
Usp48 T G 4: 137,334,004 (GRCm39) Y139* probably null Het
Vmn2r72 A G 7: 85,400,317 (GRCm39) L244P probably benign Het
Zc3h18 T A 8: 123,137,639 (GRCm39) probably benign Het
Zfp712 A G 13: 67,188,905 (GRCm39) S541P possibly damaging Het
Other mutations in Wasf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Wasf1 APN 10 40,796,293 (GRCm39) missense probably damaging 1.00
IGL01978:Wasf1 APN 10 40,812,197 (GRCm39) missense unknown
IGL02265:Wasf1 APN 10 40,812,437 (GRCm39) missense unknown
IGL02565:Wasf1 APN 10 40,812,128 (GRCm39) missense possibly damaging 0.70
IGL02741:Wasf1 APN 10 40,806,705 (GRCm39) missense probably damaging 1.00
IGL03037:Wasf1 APN 10 40,806,654 (GRCm39) missense probably benign 0.42
potatoes UTSW 10 40,802,616 (GRCm39) critical splice donor site probably null
K3955:Wasf1 UTSW 10 40,812,191 (GRCm39) missense unknown
R0652:Wasf1 UTSW 10 40,807,902 (GRCm39) splice site probably null
R1276:Wasf1 UTSW 10 40,812,522 (GRCm39) missense unknown
R1774:Wasf1 UTSW 10 40,810,475 (GRCm39) missense possibly damaging 0.50
R1813:Wasf1 UTSW 10 40,802,585 (GRCm39) missense probably damaging 1.00
R3607:Wasf1 UTSW 10 40,812,380 (GRCm39) missense unknown
R4418:Wasf1 UTSW 10 40,812,578 (GRCm39) missense unknown
R4997:Wasf1 UTSW 10 40,810,600 (GRCm39) missense probably damaging 0.96
R5178:Wasf1 UTSW 10 40,813,672 (GRCm39) missense unknown
R5718:Wasf1 UTSW 10 40,802,570 (GRCm39) missense probably damaging 1.00
R5789:Wasf1 UTSW 10 40,802,570 (GRCm39) missense probably damaging 1.00
R5791:Wasf1 UTSW 10 40,802,570 (GRCm39) missense probably damaging 1.00
R5839:Wasf1 UTSW 10 40,812,315 (GRCm39) missense unknown
R6247:Wasf1 UTSW 10 40,813,741 (GRCm39) missense unknown
R6688:Wasf1 UTSW 10 40,802,616 (GRCm39) critical splice donor site probably null
R6889:Wasf1 UTSW 10 40,796,365 (GRCm39) missense probably damaging 1.00
R6977:Wasf1 UTSW 10 40,802,581 (GRCm39) missense probably damaging 0.97
R7023:Wasf1 UTSW 10 40,812,471 (GRCm39) missense unknown
R7136:Wasf1 UTSW 10 40,802,587 (GRCm39) missense possibly damaging 0.91
R7224:Wasf1 UTSW 10 40,802,546 (GRCm39) missense probably benign 0.17
R8558:Wasf1 UTSW 10 40,806,648 (GRCm39) missense possibly damaging 0.88
R9023:Wasf1 UTSW 10 40,810,571 (GRCm39) missense possibly damaging 0.70
R9731:Wasf1 UTSW 10 40,806,731 (GRCm39) missense probably damaging 1.00
R9800:Wasf1 UTSW 10 40,812,693 (GRCm39) missense unknown
X0025:Wasf1 UTSW 10 40,812,693 (GRCm39) missense unknown
X0067:Wasf1 UTSW 10 40,813,653 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GCTTCTACAGGAACATGTTAGTGGG -3'
(R):5'- TGCAACTGCGACAGGAGATG -3'

Sequencing Primer
(F):5'- GGTTTATTTTGATGTAGCTACCGC -3'
(R):5'- TGGCACAGTCTCGCATAC -3'
Posted On 2016-04-27