Incidental Mutation 'R3941:Washc1'
ID 307476
Institutional Source Beutler Lab
Gene Symbol Washc1
Ensembl Gene ENSMUSG00000024101
Gene Name WASH complex subunit 1
Synonyms ORF19, Wash, Wash1, 1110049F14Rik
MMRRC Submission 040923-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3941 (G1)
Quality Score 175
Status Validated
Chromosome 17
Chromosomal Location 66418540-66427498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66425123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 376 (S376P)
Ref Sequence ENSEMBL: ENSMUSP00000112255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072383] [ENSMUST00000116556]
AlphaFold Q8VDD8
Predicted Effect probably damaging
Transcript: ENSMUST00000072383
AA Change: S376P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072220
Gene: ENSMUSG00000024101
AA Change: S376P

DomainStartEndE-ValueType
Pfam:WASH_WAHD 11 304 6.1e-142 PFAM
low complexity region 387 408 N/A INTRINSIC
low complexity region 432 446 N/A INTRINSIC
low complexity region 456 464 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000116556
AA Change: S376P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112255
Gene: ENSMUSG00000024101
AA Change: S376P

DomainStartEndE-ValueType
Pfam:WASH_WAHD 12 299 3e-129 PFAM
low complexity region 302 318 N/A INTRINSIC
low complexity region 387 408 N/A INTRINSIC
low complexity region 432 446 N/A INTRINSIC
low complexity region 456 464 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 98% (55/56)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality prior to E7.5 with increased cell death and autophagy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A T 16: 14,214,263 (GRCm39) T193S probably benign Het
Arhgap11a A T 2: 113,667,242 (GRCm39) L435Q probably damaging Het
Bin1 T C 18: 32,539,211 (GRCm39) V48A probably damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Btn1a1 T G 13: 23,643,434 (GRCm39) R338S probably benign Het
Cacnb4 C A 2: 52,359,501 (GRCm39) R169L probably damaging Het
Ccdc80 A G 16: 44,916,455 (GRCm39) T404A probably benign Het
Cd2ap G C 17: 43,119,690 (GRCm39) H488D probably damaging Het
Cdon A G 9: 35,375,467 (GRCm39) T498A probably benign Het
Cngb3 A G 4: 19,396,786 (GRCm39) N380D probably benign Het
Col6a5 G A 9: 105,817,033 (GRCm39) S426F unknown Het
Cr2 A T 1: 194,848,122 (GRCm39) H345Q probably damaging Het
Cttnbp2 T A 6: 18,427,452 (GRCm39) K743M probably benign Het
Depdc1b T C 13: 108,505,370 (GRCm39) S245P probably damaging Het
Dync2h1 G A 9: 7,124,825 (GRCm39) H2016Y probably benign Het
Eif2s3y G T Y: 1,012,079 (GRCm39) R98L probably benign Het
Eml6 C T 11: 29,753,167 (GRCm39) G915S probably damaging Het
Fcgr1 A G 3: 96,193,349 (GRCm39) L216P probably benign Het
Fpr-rs3 T C 17: 20,845,111 (GRCm39) N10S probably benign Het
Frem3 T C 8: 81,341,649 (GRCm39) I1314T possibly damaging Het
Gabrr3 A G 16: 59,253,864 (GRCm39) N194D probably damaging Het
Hey1 A G 3: 8,729,638 (GRCm39) L273P probably damaging Het
Irf6 A G 1: 192,850,857 (GRCm39) K365E probably benign Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Lrp1 G A 10: 127,389,265 (GRCm39) A3217V probably damaging Het
Mei4 C T 9: 81,809,336 (GRCm39) R140C probably benign Het
Mir100hg T C 9: 41,501,570 (GRCm39) L143P probably damaging Het
Mpo A T 11: 87,688,175 (GRCm39) K278M probably benign Het
Mprip T C 11: 59,622,328 (GRCm39) probably benign Het
Mug2 G C 6: 122,040,522 (GRCm39) G691R probably benign Het
Neto2 G A 8: 86,400,747 (GRCm39) T16I probably damaging Het
Nipal4 C T 11: 46,041,473 (GRCm39) V241M probably damaging Het
Nlrp2 A T 7: 5,330,551 (GRCm39) L615* probably null Het
Pcdh1 A G 18: 38,332,511 (GRCm39) V164A probably benign Het
Phc2 T C 4: 128,641,037 (GRCm39) probably null Het
Plekhg3 A G 12: 76,620,133 (GRCm39) E623G probably damaging Het
Psors1c2 G T 17: 35,844,825 (GRCm39) G29* probably null Het
Slc25a54 A T 3: 109,019,479 (GRCm39) D361V probably damaging Het
Slc39a12 A T 2: 14,400,992 (GRCm39) H123L possibly damaging Het
Sorl1 T C 9: 41,900,764 (GRCm39) probably null Het
Strn A T 17: 78,965,369 (GRCm39) I641N probably damaging Het
Tapbp A G 17: 34,139,457 (GRCm39) E151G possibly damaging Het
Ticrr T C 7: 79,343,445 (GRCm39) probably benign Het
Tnfrsf21 G A 17: 43,348,901 (GRCm39) C171Y probably damaging Het
Ttyh1 T A 7: 4,132,317 (GRCm39) L155H probably damaging Het
Utrn T A 10: 12,587,329 (GRCm39) probably null Het
Vmn1r175 A G 7: 23,508,393 (GRCm39) V78A probably benign Het
Vmn1r73 T C 7: 11,490,682 (GRCm39) Y167H probably damaging Het
Wnt10a T A 1: 74,842,656 (GRCm39) probably null Het
Xrcc4 A G 13: 90,219,752 (GRCm39) V16A probably benign Het
Zeb1 T C 18: 5,767,799 (GRCm39) V770A probably benign Het
Zfp410 A G 12: 84,385,527 (GRCm39) N90S probably damaging Het
Other mutations in Washc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0271:Washc1 UTSW 17 66,423,714 (GRCm39) missense possibly damaging 0.82
R3420:Washc1 UTSW 17 66,424,028 (GRCm39) missense probably damaging 0.96
R4078:Washc1 UTSW 17 66,424,156 (GRCm39) missense probably benign 0.05
R4524:Washc1 UTSW 17 66,426,087 (GRCm39) nonsense probably null
R5481:Washc1 UTSW 17 66,425,860 (GRCm39) missense probably benign 0.00
R5769:Washc1 UTSW 17 66,425,111 (GRCm39) missense probably benign 0.01
R6886:Washc1 UTSW 17 66,426,061 (GRCm39) missense probably damaging 0.98
R7803:Washc1 UTSW 17 66,426,055 (GRCm39) missense possibly damaging 0.51
R8111:Washc1 UTSW 17 66,423,033 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGTCTGCAGAATCCAAGACC -3'
(R):5'- AGCTATCAGGGTAGCCACAG -3'

Sequencing Primer
(F):5'- GTCTGCAGAATCCAAGACCATTTTG -3'
(R):5'- AGCCACAGGGACTTTTGG -3'
Posted On 2015-04-17