Incidental Mutation 'IGL01668:Washc2'
ID 103369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Washc2
Ensembl Gene ENSMUSG00000024104
Gene Name WASH complex subunit 2
Synonyms C530005J20Rik, D6Wsu116e, Fam21
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01668
Quality Score
Status
Chromosome 6
Chromosomal Location 116184988-116239632 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116239299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1290 (D1290G)
Ref Sequence ENSEMBL: ENSMUSP00000038983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036503] [ENSMUST00000036759] [ENSMUST00000112900] [ENSMUST00000204283] [ENSMUST00000223495] [ENSMUST00000222494] [ENSMUST00000222819] [ENSMUST00000220845]
AlphaFold Q6PGL7
Predicted Effect probably benign
Transcript: ENSMUST00000036503
SMART Domains Protein: ENSMUSP00000040057
Gene: ENSMUSG00000042213

DomainStartEndE-ValueType
low complexity region 118 151 N/A INTRINSIC
low complexity region 458 472 N/A INTRINSIC
ZnF_AN1 554 592 4.18e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000036759
AA Change: D1290G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: D1290G

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: ENSMUST00000223495
Predicted Effect probably benign
Transcript: ENSMUST00000222494
Predicted Effect probably benign
Transcript: ENSMUST00000222819
Predicted Effect probably benign
Transcript: ENSMUST00000220845
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3d1 A G 10: 80,554,993 (GRCm39) V444A possibly damaging Het
Chd9 A T 8: 91,753,404 (GRCm39) H1799L possibly damaging Het
Cic C T 7: 24,990,629 (GRCm39) P1108S possibly damaging Het
Clba1 T C 12: 112,773,264 (GRCm39) S86P probably damaging Het
Cldn16 T A 16: 26,301,296 (GRCm39) Y201* probably null Het
Col6a6 C A 9: 105,586,470 (GRCm39) R1850S probably damaging Het
Cryge A G 1: 65,087,857 (GRCm39) Y151H probably damaging Het
Dhcr7 T A 7: 143,397,048 (GRCm39) V180D probably damaging Het
Dmwd C T 7: 18,815,080 (GRCm39) R577W probably damaging Het
Gm5884 A G 6: 128,622,377 (GRCm39) noncoding transcript Het
Gm5901 C T 7: 105,026,771 (GRCm39) R180C probably benign Het
Hook2 A T 8: 85,720,207 (GRCm39) Y131F possibly damaging Het
Hsf1 T C 15: 76,381,162 (GRCm39) probably null Het
Ighv1-62-3 A G 12: 115,424,613 (GRCm39) probably benign Het
Ikbke T G 1: 131,184,675 (GRCm39) D666A probably benign Het
Il1r1 C T 1: 40,352,489 (GRCm39) T556I probably benign Het
Larp4 T C 15: 99,885,355 (GRCm39) S69P probably damaging Het
Lrrc27 G T 7: 138,807,827 (GRCm39) probably benign Het
Marchf2 A C 17: 33,922,070 (GRCm39) W97G probably damaging Het
Or4c10b C A 2: 89,711,443 (GRCm39) P91Q probably benign Het
Or5b21 A G 19: 12,839,231 (GRCm39) I31V probably benign Het
Or8k28 A G 2: 86,285,746 (GRCm39) Y290H probably damaging Het
Pah T A 10: 87,414,123 (GRCm39) I324N probably damaging Het
Pcdhb7 A G 18: 37,476,205 (GRCm39) E447G probably benign Het
Prex2 T C 1: 11,223,869 (GRCm39) V731A probably benign Het
Prpsap2 A G 11: 61,646,277 (GRCm39) V44A probably benign Het
Rp1 T C 1: 4,415,941 (GRCm39) N1724D probably damaging Het
Sap130 A G 18: 31,813,493 (GRCm39) N517D probably damaging Het
Slc13a3 A C 2: 165,272,212 (GRCm39) F277C probably damaging Het
Snx19 A G 9: 30,339,119 (GRCm39) T86A probably benign Het
Tbc1d32 A T 10: 55,999,673 (GRCm39) V833D probably benign Het
Wdr87-ps G A 7: 29,236,855 (GRCm39) noncoding transcript 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
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
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
Posted On 2014-01-21