Incidental Mutation 'R6886:Washc1'
ID 536975
Institutional Source Beutler Lab
Gene Symbol Washc1
Ensembl Gene ENSMUSG00000024101
Gene Name WASH complex subunit 1
Synonyms ORF19, Wash, Wash1, 1110049F14Rik
MMRRC Submission 044980-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6886 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 66418540-66427498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66426061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 453 (D453G)
Ref Sequence ENSEMBL: ENSMUSP00000112255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072383] [ENSMUST00000116556] [ENSMUST00000163605] [ENSMUST00000224497] [ENSMUST00000224903] [ENSMUST00000225956]
AlphaFold Q8VDD8
Predicted Effect probably damaging
Transcript: ENSMUST00000072383
AA Change: D453G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072220
Gene: ENSMUSG00000024101
AA Change: D453G

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: D453G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112255
Gene: ENSMUSG00000024101
AA Change: D453G

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
Predicted Effect probably benign
Transcript: ENSMUST00000163605
SMART Domains Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842

DomainStartEndE-ValueType
DEXDc 11 408 1.14e-153 SMART
Blast:DEXDc2 430 479 6e-14 BLAST
HELICc 682 839 1.4e-66 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224497
Predicted Effect probably benign
Transcript: ENSMUST00000224903
Predicted Effect probably benign
Transcript: ENSMUST00000225956
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b A T 8: 22,518,706 (GRCm39) M44K probably benign Het
Bad T C 19: 6,928,702 (GRCm39) probably benign Het
Bbs12 A G 3: 37,373,390 (GRCm39) D61G probably damaging Het
Bcr C T 10: 74,989,769 (GRCm39) R722C probably damaging Het
Carf C A 1: 60,175,413 (GRCm39) probably null Het
Ccdc181 A G 1: 164,107,665 (GRCm39) E116G probably damaging Het
Celsr1 A G 15: 85,915,855 (GRCm39) V706A probably benign Het
Col9a1 T A 1: 24,224,426 (GRCm39) S203T unknown Het
Ctsl T C 13: 64,512,961 (GRCm39) probably null Het
Exosc7 A T 9: 122,965,023 (GRCm39) E277D probably benign Het
Fam20b A T 1: 156,518,081 (GRCm39) W238R probably damaging Het
Fanci A T 7: 79,070,090 (GRCm39) H430L possibly damaging Het
Fstl4 A G 11: 53,077,277 (GRCm39) D678G probably damaging Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gm11569 T A 11: 99,689,247 (GRCm39) probably benign Het
Igfn1 G A 1: 135,901,198 (GRCm39) R306W probably damaging Het
Il6 C T 5: 30,223,201 (GRCm39) probably benign Het
Khdc1c T C 1: 21,439,749 (GRCm39) L100P possibly damaging Het
Kif18a G A 2: 109,127,008 (GRCm39) R314H probably damaging Het
Kif26b A C 1: 178,701,703 (GRCm39) K694T probably damaging Het
Kndc1 A G 7: 139,493,485 (GRCm39) T484A probably benign Het
Lonrf1 T C 8: 36,696,191 (GRCm39) probably null Het
Man1a2 C T 3: 100,563,387 (GRCm39) G169D probably benign Het
Med6 G T 12: 81,638,159 (GRCm39) D17E probably damaging Het
Neb T C 2: 52,110,236 (GRCm39) K204R probably damaging Het
Nhlrc1 T A 13: 47,167,252 (GRCm39) N335I possibly damaging Het
Nlrp12 T C 7: 3,289,313 (GRCm39) M400V probably benign Het
Or7e173 G T 9: 19,938,428 (GRCm39) H269N probably benign Het
Or8k22 A T 2: 86,163,408 (GRCm39) C97* probably null Het
Pkhd1 C T 1: 20,417,504 (GRCm39) S2549N probably benign Het
Pramel26 A G 4: 143,539,332 (GRCm39) F54L probably benign Het
Rab4b A C 7: 26,872,381 (GRCm39) L145R probably damaging Het
Rad50 T C 11: 53,577,011 (GRCm39) I526V probably benign Het
Rel T C 11: 23,694,304 (GRCm39) H309R probably benign Het
Rnf2 G T 1: 151,349,017 (GRCm39) N34K possibly damaging Het
Serpina3m G T 12: 104,355,386 (GRCm39) V18F possibly damaging Het
Serpinb9c T C 13: 33,334,310 (GRCm39) K244R probably benign Het
Setbp1 T A 18: 78,900,715 (GRCm39) Y984F probably damaging Het
Slc12a5 T A 2: 164,824,825 (GRCm39) M410K probably benign Het
Smarca4 C T 9: 21,570,127 (GRCm39) A710V probably damaging Het
Snx19 C A 9: 30,340,231 (GRCm39) D456E probably damaging Het
Ssrp1 T A 2: 84,870,280 (GRCm39) D101E probably benign Het
Tax1bp1 A T 6: 52,710,208 (GRCm39) E162D probably benign Het
Tenm4 T A 7: 96,446,599 (GRCm39) M823K possibly damaging Het
Tesk1 A G 4: 43,443,592 (GRCm39) D53G possibly damaging Het
Tnrc6a T A 7: 122,786,668 (GRCm39) S1577T probably benign Het
Tpr A G 1: 150,299,716 (GRCm39) I1270V probably benign Het
Trp53bp2 T C 1: 182,256,608 (GRCm39) probably null Het
Ube4a A T 9: 44,860,141 (GRCm39) I307N probably damaging Het
Unc13b A G 4: 43,170,156 (GRCm39) probably benign Het
Vmn2r3 T C 3: 64,166,927 (GRCm39) K735E probably damaging Het
Vmn2r54 A G 7: 12,366,080 (GRCm39) F285L probably benign Het
Vmn2r81 T G 10: 79,103,988 (GRCm39) S204A possibly damaging Het
Zfp329 T A 7: 12,544,025 (GRCm39) I500L probably benign Het
Zfp516 A G 18: 82,975,125 (GRCm39) D441G probably benign Het
Zfp644 T C 5: 106,785,777 (GRCm39) T257A possibly 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
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
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'- TTACCTATTATCCATCTTCAGGGGC -3'
(R):5'- ACAGTCCCGACTCCATGAAG -3'

Sequencing Primer
(F):5'- GCTGGTGAAGTAGTACCTCAC -3'
(R):5'- TCCCGACTCCATGAAGAGGAATTAG -3'
Posted On 2018-10-18