Incidental Mutation 'R3420:Washc1'
ID 267021
Institutional Source Beutler Lab
Gene Symbol Washc1
Ensembl Gene ENSMUSG00000024101
Gene Name WASH complex subunit 1
Synonyms ORF19, Wash, Wash1, 1110049F14Rik
MMRRC Submission 040638-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3420 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 66418540-66427498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66424028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 247 (S247P)
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: S247P

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000072220
Gene: ENSMUSG00000024101
AA Change: S247P

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: S247P

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112255
Gene: ENSMUSG00000024101
AA Change: S247P

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A G 6: 34,770,900 (GRCm39) T132A probably benign Het
Amn1 A T 6: 149,070,950 (GRCm39) L196* probably null Het
Ccdc73 A T 2: 104,782,292 (GRCm39) K216M probably null Het
Ccdc73 G A 2: 104,782,293 (GRCm39) probably null Het
Celsr2 A G 3: 108,321,732 (GRCm39) V360A probably benign Het
Ckap5 T A 2: 91,400,597 (GRCm39) W650R probably damaging Het
Cyp2b9 G A 7: 25,909,528 (GRCm39) G432E probably damaging Het
Dclre1b A G 3: 103,715,412 (GRCm39) Y29H probably damaging Het
Enthd1 T C 15: 80,444,225 (GRCm39) D110G probably damaging Het
Grin1 C T 2: 25,193,926 (GRCm39) G390D probably damaging Het
Hoxc6 T A 15: 102,919,327 (GRCm39) W188R probably damaging Het
Kcnip1 A G 11: 33,595,594 (GRCm39) V43A probably damaging Het
Kifap3 T A 1: 163,621,595 (GRCm39) I81N probably damaging Het
Klb G A 5: 65,529,485 (GRCm39) G338S probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nuak2 A G 1: 132,259,818 (GRCm39) D532G probably benign Het
Or8d1 A G 9: 38,766,621 (GRCm39) K88E possibly damaging Het
Prps2 G A X: 166,165,504 (GRCm39) probably null Het
Prss23 C A 7: 89,159,107 (GRCm39) V321L possibly damaging Het
Psmb2 T C 4: 126,571,630 (GRCm39) M28T probably damaging Het
Ric1 T C 19: 29,544,990 (GRCm39) I230T probably damaging Het
Slc25a17 C T 15: 81,244,901 (GRCm39) V11I probably benign Het
Slc5a4a T C 10: 76,012,407 (GRCm39) V359A probably benign Het
Slco1a5 A T 6: 142,213,964 (GRCm39) D52E possibly damaging Het
Tafa1 C A 6: 96,626,099 (GRCm39) D112E probably damaging Het
Tlr4 A G 4: 66,757,773 (GRCm39) I189V probably benign Het
Zdhhc14 T A 17: 5,803,366 (GRCm39) *490R probably null Het
Zfp217 A G 2: 169,961,937 (GRCm39) F130S possibly damaging Het
Other mutations in Washc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0271:Washc1 UTSW 17 66,423,714 (GRCm39) missense possibly damaging 0.82
R3941:Washc1 UTSW 17 66,425,123 (GRCm39) missense probably damaging 0.99
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'- ATTCCACGGAGGGCTCTACTAAG -3'
(R):5'- TGTGGGTTGAGGAAGAACTC -3'

Sequencing Primer
(F):5'- GAGGGCTCTACTAAGCTTCTGTC -3'
(R):5'- GACTGCCTGGCTCAGTTC -3'
Posted On 2015-02-18