Incidental Mutation 'IGL01397:Washc2'
ID 79517
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 # IGL01397
Quality Score
Status
Chromosome 6
Chromosomal Location 116184988-116239632 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116224959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 683 (D683G)
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: D769G

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: D769G

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 probably benign
Transcript: ENSMUST00000204283
AA Change: D683G

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: D683G

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 probably benign
Transcript: ENSMUST00000204476
AA Change: D769G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: D769G

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A C 2: 127,876,811 (GRCm39) T436P possibly damaging Het
Afap1 T A 5: 36,126,052 (GRCm39) V349E probably damaging Het
Arfgef1 C T 1: 10,229,796 (GRCm39) V1302I probably benign Het
Atp11a T A 8: 12,862,321 (GRCm39) W58R probably damaging Het
Brpf3 A T 17: 29,036,606 (GRCm39) K670N probably benign Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Cenpp T C 13: 49,794,759 (GRCm39) D136G probably damaging Het
Cep85 T C 4: 133,883,517 (GRCm39) E124G probably damaging Het
Crybb3 T C 5: 113,227,701 (GRCm39) E40G probably damaging Het
Dennd2d G T 3: 106,394,365 (GRCm39) probably null Het
Dhx34 A G 7: 15,944,468 (GRCm39) L582P probably damaging Het
Dst A G 1: 34,296,825 (GRCm39) K5738R probably damaging Het
Eif4g1 T A 16: 20,498,425 (GRCm39) L328Q probably damaging Het
Eya4 T C 10: 23,015,897 (GRCm39) K357E probably benign Het
F8 A G X: 74,423,145 (GRCm39) S25P probably benign Het
Fgd2 A G 17: 29,586,949 (GRCm39) E293G probably damaging Het
Foxi1 T A 11: 34,157,599 (GRCm39) Q142L probably damaging Het
Gfm1 A G 3: 67,350,991 (GRCm39) E316G probably benign Het
Glb1l3 C T 9: 26,736,491 (GRCm39) D524N probably benign Het
Heatr5a A T 12: 51,941,152 (GRCm39) V1366D possibly damaging Het
Idh1 T C 1: 65,207,754 (GRCm39) T142A possibly damaging Het
Lamc1 C A 1: 153,126,880 (GRCm39) G422V probably damaging Het
Lars1 A T 18: 42,361,094 (GRCm39) H691Q probably damaging Het
Ltbp2 T C 12: 84,837,042 (GRCm39) Y1259C probably damaging Het
Muc19 T A 15: 91,778,498 (GRCm39) noncoding transcript Het
Nphs1 A G 7: 30,186,089 (GRCm39) D1240G probably benign Het
Or3a1b T A 11: 74,012,590 (GRCm39) N158K probably damaging Het
Or5w1 A T 2: 87,487,249 (GRCm39) N5K probably damaging Het
Pabir2 G A X: 52,349,088 (GRCm39) T121I probably damaging Het
Parp14 T C 16: 35,679,098 (GRCm39) N290S probably benign Het
Pex5l G A 3: 33,006,746 (GRCm39) T541I probably damaging Het
Plch1 A C 3: 63,639,150 (GRCm39) probably null Het
Ppp4r3b C T 11: 29,163,594 (GRCm39) A722V probably benign Het
Ptges3 T C 10: 127,906,069 (GRCm39) S85P probably benign Het
R3hdm2 C T 10: 127,294,719 (GRCm39) R201W probably damaging Het
Rcan2 C A 17: 44,147,359 (GRCm39) Q66K possibly damaging Het
Skint4 A G 4: 111,977,207 (GRCm39) N199S possibly damaging Het
Smc4 A G 3: 68,938,877 (GRCm39) T951A probably benign Het
Smg1 A T 7: 117,762,444 (GRCm39) probably benign Het
Snx30 T C 4: 59,894,526 (GRCm39) V368A probably benign Het
Spata31d1a C T 13: 59,849,552 (GRCm39) A859T probably damaging Het
Tg G A 15: 66,567,941 (GRCm39) probably benign Het
Tmem132b T C 5: 125,775,792 (GRCm39) V422A probably benign Het
Tnxb T C 17: 34,933,647 (GRCm39) S2356P probably damaging Het
Vmn1r122 A G 7: 20,867,707 (GRCm39) V116A possibly damaging Het
Wdr35 C A 12: 9,058,550 (GRCm39) T580K probably benign Het
Wwc2 T A 8: 48,321,311 (GRCm39) N601I unknown 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
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
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 2013-11-05