Incidental Mutation 'IGL00979:Washc4'
ID28429
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 #IGL00979
Quality Score
Status
Chromosome10
Chromosomal Location83543752-83596473 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 83550883 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 124 (T124S)
Ref Sequence ENSEMBL: ENSMUSP00000039322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038388] [ENSMUST00000217842]
Predicted Effect probably benign
Transcript: ENSMUST00000038388
AA Change: T124S

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: T124S

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,860,545 K84M probably damaging Het
A4gnt T A 9: 99,620,436 Y216* probably null Het
Abcb1b A G 5: 8,825,293 probably benign Het
Ankrd50 G A 3: 38,452,414 probably benign Het
Catsperb A G 12: 101,415,325 T89A probably benign Het
Ccdc15 C T 9: 37,316,490 S236N probably benign Het
Cd34 A C 1: 194,949,508 T151P possibly damaging Het
Col28a1 A T 6: 8,014,810 V865E probably damaging Het
Csf2rb T A 15: 78,348,104 V537E probably damaging Het
Cux2 A G 5: 121,873,714 F553L probably damaging Het
Dolk A T 2: 30,284,731 L434Q probably damaging Het
Dsg2 C A 18: 20,582,767 D255E probably damaging Het
Endov T C 11: 119,500,618 V144A probably damaging Het
Grik2 T C 10: 49,355,938 N499D probably damaging Het
Hephl1 G T 9: 15,067,045 T855K probably benign Het
Hif1a A G 12: 73,942,010 D557G probably damaging Het
Idh1 G A 1: 65,171,149 T75I probably damaging Het
Ighv1-37 A G 12: 114,896,450 S47P probably benign Het
Irx4 A G 13: 73,268,222 probably benign Het
Itpr1 C T 6: 108,471,120 A1871V probably damaging Het
Klkb1 A G 8: 45,294,068 probably benign Het
Lrrc8e T C 8: 4,235,080 L435P probably damaging Het
Megf11 T A 9: 64,508,727 Y73N probably damaging Het
Nfe2 T C 15: 103,249,180 D128G probably damaging Het
Olfr1301 T A 2: 111,754,426 M59K probably damaging Het
Olfr535 A G 7: 140,492,701 E21G probably benign Het
Pak6 C A 2: 118,696,482 L653I probably damaging Het
Pde4dip T A 3: 97,747,758 probably benign Het
Pds5a A G 5: 65,631,723 V831A probably benign Het
Ppp1r32 T C 19: 10,474,499 *428W probably null Het
Prc1 G T 7: 80,307,696 probably null Het
Ptprs C T 17: 56,458,243 G14S probably damaging Het
Pygb A G 2: 150,819,913 K520E probably benign Het
Rimbp2 A G 5: 128,806,441 S92P probably benign Het
Samd4b A T 7: 28,414,213 L109Q probably damaging Het
Scn8a A T 15: 100,955,406 probably benign Het
Sdc3 A G 4: 130,818,680 I23V unknown Het
Sec61a2 A G 2: 5,872,020 Y350H possibly damaging Het
Slc4a3 A T 1: 75,554,247 Q759L probably damaging Het
Speg C T 1: 75,410,734 P1378L probably damaging Het
Spta1 T G 1: 174,208,390 Y1087* probably null Het
Tenm4 A G 7: 96,729,391 E401G probably damaging Het
Tom1 C A 8: 75,054,703 probably benign Het
Ttc3 T A 16: 94,456,718 V1273D probably damaging Het
Vmn2r106 G T 17: 20,277,575 D467E possibly damaging Het
Zfp790 A G 7: 29,829,609 E573G probably benign Het
Other mutations in Washc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02619:Washc4 APN 10 83558853 missense possibly damaging 0.84
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 On2013-04-17