Incidental Mutation 'R6593:Washc2'
ID 523469
Institutional Source Beutler Lab
Gene Symbol Washc2
Ensembl Gene ENSMUSG00000024104
Gene Name WASH complex subunit 2
Synonyms C530005J20Rik, D6Wsu116e, Fam21
MMRRC Submission 044717-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6593 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 116184988-116239632 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116236210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1227 (I1227N)
Ref Sequence ENSEMBL: ENSMUSP00000038983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036759] [ENSMUST00000112900] [ENSMUST00000204283] [ENSMUST00000204476] [ENSMUST00000220845] [ENSMUST00000222819]
AlphaFold Q6PGL7
Predicted Effect probably damaging
Transcript: ENSMUST00000036759
AA Change: I1227N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: I1227N

DomainStartEndE-ValueType
coiled coil region 95 129 N/A INTRINSIC
low complexity region 196 213 N/A INTRINSIC
low complexity region 216 238 N/A INTRINSIC
low complexity region 262 276 N/A INTRINSIC
low complexity region 443 455 N/A INTRINSIC
low complexity region 531 561 N/A INTRINSIC
low complexity region 660 668 N/A INTRINSIC
low complexity region 801 810 N/A INTRINSIC
Pfam:CAP-ZIP_m 939 1074 4.3e-58 PFAM
low complexity region 1268 1282 N/A INTRINSIC
low complexity region 1297 1317 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112900
SMART Domains Protein: ENSMUSP00000108521
Gene: ENSMUSG00000042213

DomainStartEndE-ValueType
UBQ 54 125 4.11e-15 SMART
low complexity region 262 295 N/A INTRINSIC
low complexity region 602 616 N/A INTRINSIC
ZnF_AN1 698 736 4.18e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203980
Predicted Effect probably benign
Transcript: ENSMUST00000204283
SMART Domains Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104

DomainStartEndE-ValueType
coiled coil region 9 43 N/A INTRINSIC
low complexity region 110 127 N/A INTRINSIC
low complexity region 130 152 N/A INTRINSIC
low complexity region 176 190 N/A INTRINSIC
low complexity region 357 369 N/A INTRINSIC
low complexity region 445 475 N/A INTRINSIC
low complexity region 574 582 N/A INTRINSIC
low complexity region 715 724 N/A INTRINSIC
Pfam:CAP-ZIP_m 853 988 2.8e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204364
Predicted Effect probably benign
Transcript: ENSMUST00000204476
SMART Domains Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104

DomainStartEndE-ValueType
coiled coil region 95 129 N/A INTRINSIC
low complexity region 196 213 N/A INTRINSIC
low complexity region 216 238 N/A INTRINSIC
low complexity region 262 276 N/A INTRINSIC
low complexity region 443 455 N/A INTRINSIC
low complexity region 531 561 N/A INTRINSIC
low complexity region 660 668 N/A INTRINSIC
low complexity region 801 810 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204495
Predicted Effect probably benign
Transcript: ENSMUST00000222819
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.2%
  • 10x: 96.6%
  • 20x: 89.6%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,903,491 (GRCm39) N1047K probably benign Het
AI597479 C A 1: 43,150,408 (GRCm39) Q173K probably damaging Het
Arhgef10 T C 8: 15,012,522 (GRCm39) L282P probably damaging Het
Arhgef10 T C 8: 15,012,564 (GRCm39) I296T possibly damaging Het
Atg2b A G 12: 105,611,107 (GRCm39) S1275P probably damaging Het
Cep290 T C 10: 100,344,638 (GRCm39) M485T probably benign Het
Clca3a2 A G 3: 144,514,338 (GRCm39) probably null Het
Clcn6 C T 4: 148,095,226 (GRCm39) S731N probably benign Het
Clic6 A G 16: 92,325,005 (GRCm39) I388V possibly damaging Het
Cpsf4l G T 11: 113,600,192 (GRCm39) probably benign Het
Dlg5 G A 14: 24,200,720 (GRCm39) H1350Y probably benign Het
Dnase2b T C 3: 146,292,666 (GRCm39) Y169C probably damaging Het
Elavl3 C T 9: 21,929,843 (GRCm39) V354M possibly damaging Het
Farp2 A C 1: 93,497,662 (GRCm39) I231L possibly damaging Het
Gcc2 T A 10: 58,107,329 (GRCm39) M755K probably damaging Het
Gpr88 T C 3: 116,046,273 (GRCm39) T13A unknown Het
Gstm3 T A 3: 107,875,511 (GRCm39) N40Y probably benign Het
Krtap5-2 A T 7: 141,728,697 (GRCm39) C328S unknown Het
Lpar1 A T 4: 58,486,605 (GRCm39) V222E probably damaging Het
Neto2 A G 8: 86,396,175 (GRCm39) S192P probably damaging Het
Odad1 T A 7: 45,596,808 (GRCm39) D378E probably damaging Het
Or52n3 C T 7: 104,530,640 (GRCm39) T242I probably damaging Het
Pcdhgb1 G T 18: 37,815,134 (GRCm39) D542Y probably damaging Het
Phldb2 G A 16: 45,645,790 (GRCm39) Q264* probably null Het
Ptgs2 G A 1: 149,976,784 (GRCm39) D6N possibly damaging Het
Rasef G T 4: 73,663,327 (GRCm39) H167N probably damaging Het
Rbbp4 A G 4: 129,216,168 (GRCm39) L193S probably damaging Het
Rigi T C 4: 40,226,651 (GRCm39) I169V probably benign Het
Sec24d T C 3: 123,147,061 (GRCm39) F673S probably damaging Het
Slc9b1 T C 3: 135,063,219 (GRCm39) M1T probably null Het
Stra6 A G 9: 58,059,262 (GRCm39) T542A probably benign Het
Stt3b T C 9: 115,081,579 (GRCm39) Y569C probably damaging Het
Traf3ip1 A G 1: 91,455,417 (GRCm39) K626R possibly damaging Het
Xpo7 G A 14: 70,919,802 (GRCm39) A671V probably damaging Het
Zfp799 A G 17: 33,038,764 (GRCm39) Y501H probably damaging Het
Other mutations in Washc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Washc2 APN 6 116,233,637 (GRCm39) missense probably benign
IGL00552:Washc2 APN 6 116,233,785 (GRCm39) missense possibly damaging 0.85
IGL01397:Washc2 APN 6 116,224,959 (GRCm39) missense probably benign 0.44
IGL01668:Washc2 APN 6 116,239,299 (GRCm39) missense probably damaging 1.00
IGL01982:Washc2 APN 6 116,213,150 (GRCm39) missense probably benign 0.22
IGL02022:Washc2 APN 6 116,236,126 (GRCm39) missense probably benign 0.22
IGL02150:Washc2 APN 6 116,208,593 (GRCm39) splice site probably benign
IGL02224:Washc2 APN 6 116,197,530 (GRCm39) missense possibly damaging 0.70
IGL02553:Washc2 APN 6 116,218,571 (GRCm39) missense probably damaging 0.98
IGL02555:Washc2 APN 6 116,186,061 (GRCm39) missense probably damaging 1.00
IGL02612:Washc2 APN 6 116,197,577 (GRCm39) missense possibly damaging 0.90
IGL02622:Washc2 APN 6 116,190,979 (GRCm39) splice site probably benign
IGL02900:Washc2 APN 6 116,204,435 (GRCm39) missense probably damaging 1.00
IGL03263:Washc2 APN 6 116,215,084 (GRCm39) splice site probably benign
fading UTSW 6 116,231,114 (GRCm39) missense probably damaging 1.00
R0218:Washc2 UTSW 6 116,225,007 (GRCm39) nonsense probably null
R0285:Washc2 UTSW 6 116,198,800 (GRCm39) missense probably damaging 1.00
R0346:Washc2 UTSW 6 116,197,484 (GRCm39) splice site probably benign
R0677:Washc2 UTSW 6 116,221,577 (GRCm39) missense probably damaging 1.00
R0919:Washc2 UTSW 6 116,185,225 (GRCm39) missense probably damaging 1.00
R1144:Washc2 UTSW 6 116,201,495 (GRCm39) missense probably damaging 1.00
R1666:Washc2 UTSW 6 116,200,215 (GRCm39) critical splice donor site probably null
R1687:Washc2 UTSW 6 116,233,673 (GRCm39) missense probably benign 0.06
R1702:Washc2 UTSW 6 116,206,267 (GRCm39) missense probably damaging 0.99
R1740:Washc2 UTSW 6 116,208,593 (GRCm39) splice site probably benign
R1952:Washc2 UTSW 6 116,232,052 (GRCm39) missense possibly damaging 0.92
R1964:Washc2 UTSW 6 116,185,948 (GRCm39) missense probably damaging 0.99
R2039:Washc2 UTSW 6 116,201,400 (GRCm39) missense probably damaging 0.99
R3084:Washc2 UTSW 6 116,204,454 (GRCm39) missense probably benign 0.00
R3552:Washc2 UTSW 6 116,197,529 (GRCm39) missense probably damaging 1.00
R3790:Washc2 UTSW 6 116,224,933 (GRCm39) splice site probably benign
R3949:Washc2 UTSW 6 116,185,165 (GRCm39) utr 5 prime probably benign
R4089:Washc2 UTSW 6 116,233,253 (GRCm39) splice site probably null
R4133:Washc2 UTSW 6 116,235,891 (GRCm39) missense probably damaging 0.99
R4258:Washc2 UTSW 6 116,185,202 (GRCm39) missense probably damaging 1.00
R4510:Washc2 UTSW 6 116,197,517 (GRCm39) missense probably damaging 1.00
R4511:Washc2 UTSW 6 116,197,517 (GRCm39) missense probably damaging 1.00
R4613:Washc2 UTSW 6 116,206,230 (GRCm39) missense probably damaging 1.00
R4614:Washc2 UTSW 6 116,215,135 (GRCm39) missense possibly damaging 0.83
R4794:Washc2 UTSW 6 116,235,610 (GRCm39) missense probably benign 0.03
R5224:Washc2 UTSW 6 116,185,965 (GRCm39) makesense probably null
R5367:Washc2 UTSW 6 116,236,111 (GRCm39) missense probably damaging 1.00
R5602:Washc2 UTSW 6 116,225,056 (GRCm39) missense possibly damaging 0.73
R6013:Washc2 UTSW 6 116,231,114 (GRCm39) missense probably damaging 1.00
R6075:Washc2 UTSW 6 116,204,327 (GRCm39) missense probably benign 0.02
R6086:Washc2 UTSW 6 116,233,177 (GRCm39) splice site probably null
R6344:Washc2 UTSW 6 116,235,719 (GRCm39) missense probably benign 0.08
R7048:Washc2 UTSW 6 116,197,544 (GRCm39) missense possibly damaging 0.96
R7062:Washc2 UTSW 6 116,196,949 (GRCm39) missense possibly damaging 0.72
R7241:Washc2 UTSW 6 116,185,168 (GRCm39) start codon destroyed probably null 0.01
R7283:Washc2 UTSW 6 116,204,379 (GRCm39) missense probably damaging 0.99
R7681:Washc2 UTSW 6 116,237,618 (GRCm39) missense probably damaging 0.99
R7810:Washc2 UTSW 6 116,236,020 (GRCm39) missense probably benign
R7908:Washc2 UTSW 6 116,225,106 (GRCm39) missense probably benign
R7923:Washc2 UTSW 6 116,203,385 (GRCm39) missense possibly damaging 0.83
R8067:Washc2 UTSW 6 116,201,464 (GRCm39) missense probably damaging 0.99
R8224:Washc2 UTSW 6 116,218,457 (GRCm39) missense probably damaging 0.99
R8697:Washc2 UTSW 6 116,206,220 (GRCm39) missense probably benign 0.17
R8841:Washc2 UTSW 6 116,235,916 (GRCm39) missense probably benign 0.16
R8920:Washc2 UTSW 6 116,221,615 (GRCm39) missense possibly damaging 0.92
R8971:Washc2 UTSW 6 116,231,399 (GRCm39) missense probably damaging 0.99
R9010:Washc2 UTSW 6 116,198,823 (GRCm39) missense probably damaging 1.00
R9231:Washc2 UTSW 6 116,235,899 (GRCm39) missense probably benign 0.05
R9257:Washc2 UTSW 6 116,193,069 (GRCm39) nonsense probably null
R9361:Washc2 UTSW 6 116,239,433 (GRCm39) makesense probably null
R9571:Washc2 UTSW 6 116,237,631 (GRCm39) critical splice donor site probably null
R9764:Washc2 UTSW 6 116,186,048 (GRCm39) missense possibly damaging 0.96
X0018:Washc2 UTSW 6 116,185,219 (GRCm39) missense probably null 0.96
Predicted Primers PCR Primer
(F):5'- GGAGAAGAGCCTGGCATTTC -3'
(R):5'- GTAAAATAAAGAACTACCCCTGGATG -3'

Sequencing Primer
(F):5'- AGAAGAGCCTGGCATTTCCTGATC -3'
(R):5'- TGGATGAAACAAACCACTTCAAG -3'
Posted On 2018-06-22