Incidental Mutation 'IGL02514:Washc4'
ID296678
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 #IGL02514
Quality Score
Status
Chromosome10
Chromosomal Location83543752-83596473 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 83570083 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 481 (E481V)
Ref Sequence ENSEMBL: ENSMUSP00000039322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038388] [ENSMUST00000217842]
Predicted Effect probably damaging
Transcript: ENSMUST00000038388
AA Change: E481V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: E481V

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,852,171 C114* probably null Het
4933421I07Rik A G 7: 42,447,557 M110T probably damaging Het
Amer1 A G X: 95,426,511 V667A possibly damaging Het
Casr C T 16: 36,500,325 G487E probably damaging Het
Catsperd G A 17: 56,661,271 G552D probably damaging Het
Ceacam3 A G 7: 17,162,981 D624G possibly damaging Het
Celsr2 A G 3: 108,397,510 V2208A probably benign Het
Clca4a G A 3: 144,955,071 S664F probably damaging Het
Ddx23 A T 15: 98,658,318 S40T unknown Het
Dhodh G A 8: 109,606,264 R58* probably null Het
Dhx36 A G 3: 62,500,898 L173S possibly damaging Het
Dnaaf5 C T 5: 139,174,117 probably benign Het
Dnah3 T C 7: 119,966,247 D2546G probably damaging Het
Eef2 T G 10: 81,179,593 I316S probably benign Het
Efcab6 A T 15: 83,871,311 probably benign Het
Efcab6 T C 15: 84,032,942 D139G possibly damaging Het
Eif4g3 T A 4: 138,126,194 I357N possibly damaging Het
Elovl2 G A 13: 41,194,771 T44M probably benign Het
Fam92a T G 4: 12,164,080 probably benign Het
Fbln1 T A 15: 85,244,262 C553* probably null Het
Fip1l1 T C 5: 74,571,152 V310A probably damaging Het
Gast A G 11: 100,336,892 D100G probably benign Het
Gk G A X: 85,713,364 probably benign Het
Gm1330 G A 2: 148,999,385 probably benign Het
Hspg2 C A 4: 137,569,576 T4355K probably benign Het
Ipo7 T C 7: 110,048,828 V639A possibly damaging Het
Lrrc7 T C 3: 158,160,292 M1271V probably damaging Het
Msantd1 T A 5: 34,921,543 S141T probably damaging Het
Myo9b T C 8: 71,291,006 I237T probably damaging Het
Olfr1129 G A 2: 87,575,193 M36I probably benign Het
Olfr1286 A C 2: 111,420,772 Y60D probably damaging Het
Olfr322 T C 11: 58,665,643 F28S probably damaging Het
Olfr532 A T 7: 140,419,594 Y60N probably damaging Het
Pan2 A T 10: 128,310,741 M416L possibly damaging Het
Pank4 T C 4: 154,970,465 F209L probably damaging Het
Pcdhb13 A T 18: 37,442,991 I141L possibly damaging Het
Pik3r2 A G 8: 70,770,592 Y422H probably benign Het
Pramef17 T C 4: 143,993,202 K198E probably benign Het
Prdm4 A T 10: 85,907,917 I158N probably damaging Het
Prl T G 13: 27,059,394 L14R probably damaging Het
Rabl6 C A 2: 25,608,176 A23S probably damaging Het
Rbm15b T A 9: 106,884,977 H664L probably damaging Het
Rhobtb1 T A 10: 69,289,641 H618Q probably benign Het
Slc15a1 T C 14: 121,487,040 K140R probably damaging Het
Slc6a17 A G 3: 107,495,677 S145P possibly damaging Het
Snx31 T C 15: 36,525,582 T324A probably damaging Het
Spatc1l T C 10: 76,569,656 probably benign Het
Taar7b A G 10: 24,000,984 N349S probably benign Het
Tbx19 T C 1: 165,153,704 I74V probably benign Het
Tmtc2 G A 10: 105,190,099 T836I possibly damaging Het
Vmn2r72 C A 7: 85,738,699 M552I possibly damaging Het
Vsig10l A G 7: 43,463,914 T199A probably benign Het
Zc3h15 T A 2: 83,653,381 N33K probably damaging 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
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 On2015-04-16