Incidental Mutation 'R6344:Washc2'
ID 514048
Institutional Source Beutler Lab
Gene Symbol Washc2
Ensembl Gene ENSMUSG00000024104
Gene Name WASH complex subunit 2
Synonyms C530005J20Rik, D6Wsu116e, Fam21
MMRRC Submission 044498-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6344 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 116184988-116239632 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 116235719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 977 (Q977H)
Ref Sequence ENSEMBL: ENSMUSP00000144703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036759] [ENSMUST00000204283] [ENSMUST00000204476]
AlphaFold Q6PGL7
Predicted Effect probably benign
Transcript: ENSMUST00000036759
AA Change: Q1063H

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: Q1063H

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 noncoding transcript
Transcript: ENSMUST00000203802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203980
Predicted Effect probably benign
Transcript: ENSMUST00000204283
AA Change: Q977H

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: Q977H

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 noncoding transcript
Transcript: ENSMUST00000204495
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.3%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,327,706 (GRCm39) P707L probably damaging Het
Bbip1 A G 19: 53,919,912 (GRCm39) V23A probably benign Het
Bdnf A T 2: 109,554,022 (GRCm39) Y132F probably benign Het
C4bp T C 1: 130,583,752 (GRCm39) D72G probably benign Het
Cdcp1 T A 9: 123,011,447 (GRCm39) K343N possibly damaging Het
Cep112 A T 11: 108,410,000 (GRCm39) Y472F probably damaging Het
Cops2 A T 2: 125,700,899 (GRCm39) probably benign Het
Cyp27a1 T C 1: 74,776,008 (GRCm39) probably null Het
Dnah7a T C 1: 53,436,349 (GRCm39) I3998V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dnhd1 A G 7: 105,343,817 (GRCm39) I1720M probably benign Het
Fkbpl A G 17: 34,864,544 (GRCm39) K104R probably damaging Het
Helq G T 5: 100,914,594 (GRCm39) A966E probably benign Het
Iba57 G A 11: 59,049,119 (GRCm39) P350L probably damaging Het
Iqgap3 T C 3: 87,989,401 (GRCm39) probably null Het
Kcnj9 A G 1: 172,153,713 (GRCm39) V137A probably benign Het
Kif19a G A 11: 114,672,777 (GRCm39) probably null Het
Kmt2a A T 9: 44,733,156 (GRCm39) probably benign Het
Lilra5 T A 7: 4,241,785 (GRCm39) F195I probably damaging Het
Mcm9 A G 10: 53,414,033 (GRCm39) I349T probably benign Het
Mlst8 A G 17: 24,696,300 (GRCm39) L143P probably damaging Het
Mrc1 T C 2: 14,248,985 (GRCm39) F174L probably damaging Het
Muc5b T A 7: 141,416,708 (GRCm39) L3218Q possibly damaging Het
Myo1h A G 5: 114,466,776 (GRCm39) S275G probably damaging Het
Myo5a T A 9: 75,067,791 (GRCm39) V615D probably benign Het
Myo9b T C 8: 71,780,558 (GRCm39) L485P probably damaging Het
Nav1 A G 1: 135,378,534 (GRCm39) Y1646H probably damaging Het
Nsf A T 11: 103,752,730 (GRCm39) V539D probably damaging Het
Nutm1 A T 2: 112,079,247 (GRCm39) N889K possibly damaging Het
Or2n1b C T 17: 38,459,611 (GRCm39) A44V probably benign Het
Or55b3 A G 7: 102,126,738 (GRCm39) L113P probably damaging Het
Pcdhga2 T A 18: 37,803,815 (GRCm39) V553E probably benign Het
Pkmyt1 T C 17: 23,951,730 (GRCm39) S95P possibly damaging Het
Ranbp2 T A 10: 58,319,708 (GRCm39) probably null Het
Saxo2 T A 7: 82,284,073 (GRCm39) I262F probably damaging Het
Sco1 C T 11: 66,946,571 (GRCm39) R115W probably damaging Het
Slc27a3 G T 3: 90,294,961 (GRCm39) Y330* probably null Het
Slc6a4 C T 11: 76,909,080 (GRCm39) T364I probably damaging Het
Slit2 A G 5: 48,377,023 (GRCm39) I388V probably benign Het
Smc6 C A 12: 11,347,107 (GRCm39) probably benign Het
Snx25 C T 8: 46,488,675 (GRCm39) W747* probably null Het
Stard9 T A 2: 120,534,801 (GRCm39) M3686K probably benign Het
Syne1 T C 10: 4,972,212 (GRCm39) D8732G probably benign Het
Tcaf3 A G 6: 42,574,105 (GRCm39) S36P possibly damaging Het
Trpv6 T C 6: 41,602,356 (GRCm39) probably null Het
Tspear T C 10: 77,710,847 (GRCm39) F490L possibly damaging Het
Ttn A G 2: 76,552,196 (GRCm39) I31147T probably damaging Het
Ugt3a1 A C 15: 9,306,317 (GRCm39) E155D probably damaging Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Yars2 T A 16: 16,120,899 (GRCm39) W18R probably benign 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
R6593:Washc2 UTSW 6 116,236,210 (GRCm39) missense probably damaging 1.00
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'- GTCTTTGCTGTTAGCCTTGAAC -3'
(R):5'- TGATCCTCTGCTCTTGGGAAAG -3'

Sequencing Primer
(F):5'- GAACACGTTTCCATCAGATCATGG -3'
(R):5'- AACAGGTCAGCCTCGTTTCCAG -3'
Posted On 2018-04-27