Incidental Mutation 'IGL02224:Washc2'
ID 285269
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 # IGL02224
Quality Score
Status
Chromosome 6
Chromosomal Location 116184988-116239632 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116197530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 254 (D254E)
Ref Sequence ENSEMBL: ENSMUSP00000038983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036759] [ENSMUST00000203286] [ENSMUST00000203523] [ENSMUST00000203928] [ENSMUST00000204476] [ENSMUST00000204283]
AlphaFold Q6PGL7
Predicted Effect possibly damaging
Transcript: ENSMUST00000036759
AA Change: D254E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: D254E

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: ENSMUST00000203161
Predicted Effect probably benign
Transcript: ENSMUST00000203286
Predicted Effect probably benign
Transcript: ENSMUST00000203523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203802
Predicted Effect probably benign
Transcript: ENSMUST00000203928
Predicted Effect probably benign
Transcript: ENSMUST00000204476
AA Change: D254E

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: D254E

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: ENSMUST00000204283
AA Change: D168E

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: D168E

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T A 13: 4,329,289 (GRCm39) T23S probably damaging Het
Alpk3 G A 7: 80,726,616 (GRCm39) probably benign Het
Atp8b3 A G 10: 80,361,810 (GRCm39) probably benign Het
Atr C T 9: 95,760,682 (GRCm39) R1051C probably damaging Het
B4galt2 T C 4: 117,734,110 (GRCm39) D309G probably benign Het
C130026L21Rik A G 5: 111,730,291 (GRCm39) noncoding transcript Het
Cadm3 A G 1: 173,165,628 (GRCm39) I344T possibly damaging Het
Cd101 T C 3: 100,924,318 (GRCm39) T370A probably benign Het
Col6a5 A T 9: 105,741,534 (GRCm39) S2462T probably damaging Het
Csf3r A T 4: 125,937,332 (GRCm39) N739Y probably benign Het
Ensa T C 3: 95,535,990 (GRCm39) S108P probably benign Het
Fancd2 T A 6: 113,545,281 (GRCm39) probably null Het
Fbp1 T A 13: 63,035,821 (GRCm39) T13S probably damaging Het
Flrt2 C A 12: 95,746,802 (GRCm39) T380K possibly damaging Het
Gpatch11 T C 17: 79,148,522 (GRCm39) probably benign Het
Hagh A G 17: 25,071,861 (GRCm39) D29G probably damaging Het
Hmmr T C 11: 40,600,831 (GRCm39) Q513R unknown Het
Hoxb8 T C 11: 96,173,981 (GRCm39) S65P probably benign Het
Il4ra T C 7: 125,169,271 (GRCm39) probably benign Het
Lbp A G 2: 158,148,669 (GRCm39) N27S probably damaging Het
Msh4 G A 3: 153,595,822 (GRCm39) T76I possibly damaging Het
Nfat5 T C 8: 108,071,447 (GRCm39) V281A probably benign Het
Or10ag53 C T 2: 87,082,821 (GRCm39) S180F probably benign Het
Or13c25 A T 4: 52,911,392 (GRCm39) V134D probably damaging Het
Or4p20 C T 2: 88,254,052 (GRCm39) probably null Het
Or5b106 T A 19: 13,123,120 (GRCm39) K301M probably damaging Het
Or5w16 T A 2: 87,576,757 (GRCm39) C72* probably null Het
Phf11b A T 14: 59,563,515 (GRCm39) probably benign Het
Pik3c2a A G 7: 115,962,575 (GRCm39) probably benign Het
Prdx1 T A 4: 116,549,064 (GRCm39) F66L probably damaging Het
Prss39 A G 1: 34,538,459 (GRCm39) H108R probably damaging Het
Spta1 C A 1: 174,045,255 (GRCm39) probably benign Het
Tmem87b A G 2: 128,676,127 (GRCm39) I297V possibly damaging Het
Vmn1r191 T C 13: 22,363,068 (GRCm39) R229G probably damaging Het
Vmn2r113 A T 17: 23,174,960 (GRCm39) R524* probably null Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp773 T C 7: 7,135,975 (GRCm39) H207R 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
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 2015-04-16