Incidental Mutation 'IGL02619:Washc4'
ID300783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Washc4
Ensembl Gene ENSMUSG00000034560
Gene NameWASH complex subunit 4
SynonymsA230046K03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.956) question?
Stock #IGL02619
Quality Score
Status
Chromosome10
Chromosomal Location83543752-83596473 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 83558853 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 316 (V316I)
Ref Sequence ENSEMBL: ENSMUSP00000039322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038388] [ENSMUST00000217842]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038388
AA Change: V316I

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: V316I

DomainStartEndE-ValueType
Pfam:WASH-7_N 32 604 4.8e-245 PFAM
Pfam:WASH-7_mid 605 949 7.9e-176 PFAM
low complexity region 954 965 N/A INTRINSIC
Pfam:WASH-7_C 966 1135 9.1e-76 PFAM
low complexity region 1138 1156 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217842
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 C T 1: 179,792,451 G220E possibly damaging Het
Arhgef10l A G 4: 140,594,193 I101T probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
Camkk2 A T 5: 122,764,235 C4S probably damaging Het
Ccdc174 T A 6: 91,899,557 D458E possibly damaging Het
Cercam A G 2: 29,880,674 N419S probably benign Het
Clca3a2 T C 3: 144,806,322 N551S probably damaging Het
Cldn18 T A 9: 99,698,935 I87F probably damaging Het
Ctso T A 3: 81,941,529 probably benign Het
Ddhd2 C A 8: 25,746,954 probably null Het
Dscaml1 T A 9: 45,447,796 Y118N probably damaging Het
Ece1 C T 4: 137,938,733 A296V probably benign Het
Fbxo40 T A 16: 36,970,404 I115F possibly damaging Het
Fkbp9 T A 6: 56,850,624 N143K probably damaging Het
Foxk2 G T 11: 121,299,576 probably benign Het
Ggnbp1 A G 17: 27,029,555 K33E probably benign Het
Hace1 A T 10: 45,671,434 probably benign Het
Hk3 A T 13: 55,014,294 C133S probably damaging Het
Kbtbd3 C T 9: 4,331,252 A542V probably damaging Het
Lrch2 A C X: 147,480,541 V363G probably damaging Het
Lrch2 C T X: 147,519,135 C264Y probably damaging Het
Lrrc56 C A 7: 141,207,633 probably benign Het
Lrtm2 C T 6: 119,317,238 V311M probably damaging Het
N4bp1 G T 8: 86,860,901 Q470K probably benign Het
Naa15 A C 3: 51,460,131 D575A probably benign Het
Ncaph A T 2: 127,127,536 V69D probably damaging Het
Nlrp5 G A 7: 23,424,064 probably null Het
Nmbr A G 10: 14,760,587 D100G probably damaging Het
Ofcc1 C T 13: 40,097,077 V588M possibly damaging Het
Olfr142 G T 2: 90,252,505 T161N probably damaging Het
Olfr481 C A 7: 108,081,742 probably benign Het
Osmr C A 15: 6,841,994 R314M probably damaging Het
Pcdhb16 C T 18: 37,478,217 Q77* probably null Het
Pglyrp4 G A 3: 90,735,648 probably null Het
Ptprh A G 7: 4,549,499 F922S probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rp1 T A 1: 4,348,450 Q813L possibly damaging Het
Sgtb A G 13: 104,118,414 N64S probably benign Het
Slc5a12 T C 2: 110,640,856 V481A probably benign Het
Slitrk1 A G 14: 108,911,917 V454A probably benign Het
Sntg2 C A 12: 30,267,026 probably null Het
Synj1 C T 16: 90,974,045 V499I probably damaging Het
Tmco1 T C 1: 167,326,028 probably benign Het
Tmem38b T C 4: 53,848,871 I92T probably damaging Het
Tmem9 T C 1: 136,027,407 V93A probably benign Het
Ttn T A 2: 76,795,238 R15080S possibly damaging Het
Ube2e3 T C 2: 78,918,721 I138T probably damaging Het
Urgcp A G 11: 5,715,752 I862T possibly damaging Het
Vmn1r68 A T 7: 10,527,676 I165N probably benign Het
Zfp111 A T 7: 24,199,688 L166Q possibly damaging Het
Zfyve1 A T 12: 83,550,944 probably benign Het
Zscan18 A G 7: 12,774,866 probably benign Het
Other mutations in Washc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Washc4 APN 10 83550883 missense probably benign 0.07
IGL01370:Washc4 APN 10 83558830 missense probably damaging 0.98
IGL01524:Washc4 APN 10 83576132 missense probably benign 0.37
IGL01682:Washc4 APN 10 83580306 missense possibly damaging 0.93
IGL01973:Washc4 APN 10 83556109 missense probably damaging 0.99
IGL02002:Washc4 APN 10 83579543 missense possibly damaging 0.95
IGL02020:Washc4 APN 10 83564472 missense probably damaging 0.97
IGL02230:Washc4 APN 10 83581369 missense probably benign 0.00
IGL02421:Washc4 APN 10 83579550 missense probably damaging 0.98
IGL02514:Washc4 APN 10 83570083 missense probably damaging 0.98
IGL02852:Washc4 APN 10 83583309 missense possibly damaging 0.95
IGL02870:Washc4 APN 10 83585876 missense probably benign
IGL03181:Washc4 APN 10 83591019 missense probably damaging 1.00
IGL03247:Washc4 APN 10 83564463 missense probably benign 0.02
R0458:Washc4 UTSW 10 83546799 missense possibly damaging 0.70
R0462:Washc4 UTSW 10 83556913 missense probably benign 0.00
R0471:Washc4 UTSW 10 83558734 splice site probably benign
R1144:Washc4 UTSW 10 83580330 missense probably damaging 0.97
R1560:Washc4 UTSW 10 83556109 missense probably damaging 0.99
R1789:Washc4 UTSW 10 83579525 missense possibly damaging 0.92
R1819:Washc4 UTSW 10 83550884 missense probably benign 0.08
R2421:Washc4 UTSW 10 83579521 missense probably damaging 0.97
R2882:Washc4 UTSW 10 83579501 missense possibly damaging 0.93
R2902:Washc4 UTSW 10 83554763 nonsense probably null
R3436:Washc4 UTSW 10 83570002 missense probably benign 0.33
R3437:Washc4 UTSW 10 83570002 missense probably benign 0.33
R3552:Washc4 UTSW 10 83546856 missense probably benign 0.45
R4646:Washc4 UTSW 10 83574543 missense possibly damaging 0.71
R4647:Washc4 UTSW 10 83574543 missense possibly damaging 0.71
R4648:Washc4 UTSW 10 83574543 missense possibly damaging 0.71
R4732:Washc4 UTSW 10 83574479 missense probably benign
R4733:Washc4 UTSW 10 83574479 missense probably benign
R4750:Washc4 UTSW 10 83591052 missense probably damaging 0.99
R4835:Washc4 UTSW 10 83579512 missense possibly damaging 0.93
R5024:Washc4 UTSW 10 83583336 missense possibly damaging 0.71
R5055:Washc4 UTSW 10 83556907 missense probably damaging 0.99
R5414:Washc4 UTSW 10 83556103 missense possibly damaging 0.95
R5423:Washc4 UTSW 10 83579554 missense possibly damaging 0.71
R5428:Washc4 UTSW 10 83574522 missense probably benign 0.00
R5506:Washc4 UTSW 10 83581337 missense probably damaging 0.97
R5540:Washc4 UTSW 10 83573793 missense probably damaging 0.99
R5667:Washc4 UTSW 10 83570028 missense probably damaging 0.97
R5671:Washc4 UTSW 10 83570028 missense probably damaging 0.97
R5777:Washc4 UTSW 10 83555605 missense probably damaging 1.00
R6369:Washc4 UTSW 10 83574444 missense probably damaging 1.00
R6370:Washc4 UTSW 10 83571362 missense possibly damaging 0.85
R6500:Washc4 UTSW 10 83558823 missense probably damaging 1.00
R6645:Washc4 UTSW 10 83572195 nonsense probably null
R6657:Washc4 UTSW 10 83558618 missense possibly damaging 0.92
R6829:Washc4 UTSW 10 83560516 missense probably damaging 0.97
R6862:Washc4 UTSW 10 83558893 missense possibly damaging 0.92
R6899:Washc4 UTSW 10 83576055 missense probably benign 0.07
R7144:Washc4 UTSW 10 83573774 critical splice acceptor site probably null
R7163:Washc4 UTSW 10 83591033 missense probably damaging 0.99
R7477:Washc4 UTSW 10 83574443 missense probably damaging 0.99
R7900:Washc4 UTSW 10 83573773 splice site probably null
R8491:Washc4 UTSW 10 83576123 missense probably benign 0.24
R8791:Washc4 UTSW 10 83550884 missense probably benign 0.08
R8804:Washc4 UTSW 10 83572151 missense probably damaging 0.99
X0017:Washc4 UTSW 10 83591143 missense probably damaging 1.00
X0066:Washc4 UTSW 10 83558829 frame shift probably null
Z1088:Washc4 UTSW 10 83576741 missense probably benign 0.07
Posted On2015-04-16