Incidental Mutation 'IGL01524:Washc4'
ID 89493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Washc4
Ensembl Gene ENSMUSG00000034560
Gene Name WASH complex subunit 4
Synonyms A230046K03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # IGL01524
Quality Score
Status
Chromosome 10
Chromosomal Location 83379616-83432337 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83411996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 709 (L709P)
Ref Sequence ENSEMBL: ENSMUSP00000039322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038388] [ENSMUST00000217842]
AlphaFold Q3UMB9
Predicted Effect probably benign
Transcript: ENSMUST00000038388
AA Change: L709P

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: L709P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218570
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat A T 8: 60,969,106 (GRCm39) D117V probably damaging Het
Abca14 T C 7: 119,852,644 (GRCm39) Y870H possibly damaging Het
Ankrd36 T C 11: 5,585,092 (GRCm39) I301T probably benign Het
Atp10b T A 11: 43,150,672 (GRCm39) S1457T probably benign Het
Bltp1 A G 3: 36,996,531 (GRCm39) D1081G possibly damaging Het
Ccdc175 G A 12: 72,177,916 (GRCm39) probably benign Het
Ccdc93 A G 1: 121,389,628 (GRCm39) K224E probably benign Het
Cep131 C T 11: 119,956,786 (GRCm39) A886T probably damaging Het
Clip1 A C 5: 123,717,442 (GRCm39) H1282Q probably damaging Het
Ctcfl T G 2: 172,959,177 (GRCm39) D183A probably benign Het
Cyp17a1 C T 19: 46,659,495 (GRCm39) V112I probably benign Het
Fhod3 T C 18: 25,263,659 (GRCm39) I1521T probably damaging Het
Gipc2 A G 3: 151,843,214 (GRCm39) I141T probably damaging Het
Glo1 T C 17: 30,815,393 (GRCm39) R141G possibly damaging Het
Ipmk C A 10: 71,208,631 (GRCm39) A140E probably damaging Het
Kynu A G 2: 43,561,394 (GRCm39) D310G possibly damaging Het
Myo1f T A 17: 33,798,857 (GRCm39) I174N probably damaging Het
Nat10 T A 2: 103,588,102 (GRCm39) N8Y probably damaging Het
Nhlrc2 A G 19: 56,564,587 (GRCm39) I304V probably benign Het
Pdk4 T C 6: 5,491,979 (GRCm39) H31R probably damaging Het
Sema6d T C 2: 124,505,995 (GRCm39) V644A possibly damaging Het
Slc30a4 T A 2: 122,544,308 (GRCm39) K11N possibly damaging Het
Slc6a3 T C 13: 73,686,668 (GRCm39) S12P probably benign Het
Spats2 C T 15: 99,110,127 (GRCm39) A508V probably benign Het
Tinag A G 9: 76,952,820 (GRCm39) Y55H probably damaging Het
Topbp1 T C 9: 103,188,844 (GRCm39) I172T possibly damaging Het
Trim17 A G 11: 58,861,423 (GRCm39) T279A probably damaging Het
Vmn1r216 C A 13: 23,283,519 (GRCm39) N67K probably benign Het
Xdh T C 17: 74,230,132 (GRCm39) probably null Het
Zfhx4 C T 3: 5,309,036 (GRCm39) P754L probably damaging Het
Zfp267 T C 3: 36,218,729 (GRCm39) Y251H possibly damaging Het
Zfp623 C A 15: 75,819,528 (GRCm39) S161R probably benign Het
Zmat3 G A 3: 32,395,827 (GRCm39) R227C possibly damaging Het
Other mutations in Washc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Washc4 APN 10 83,386,747 (GRCm39) missense probably benign 0.07
IGL01370:Washc4 APN 10 83,394,694 (GRCm39) missense probably damaging 0.98
IGL01682:Washc4 APN 10 83,416,170 (GRCm39) missense possibly damaging 0.93
IGL01973:Washc4 APN 10 83,391,973 (GRCm39) missense probably damaging 0.99
IGL02002:Washc4 APN 10 83,415,407 (GRCm39) missense possibly damaging 0.95
IGL02020:Washc4 APN 10 83,400,336 (GRCm39) missense probably damaging 0.97
IGL02230:Washc4 APN 10 83,417,233 (GRCm39) missense probably benign 0.00
IGL02421:Washc4 APN 10 83,415,414 (GRCm39) missense probably damaging 0.98
IGL02514:Washc4 APN 10 83,405,947 (GRCm39) missense probably damaging 0.98
IGL02619:Washc4 APN 10 83,394,717 (GRCm39) missense possibly damaging 0.84
IGL02852:Washc4 APN 10 83,419,173 (GRCm39) missense possibly damaging 0.95
IGL02870:Washc4 APN 10 83,421,740 (GRCm39) missense probably benign
IGL03181:Washc4 APN 10 83,426,883 (GRCm39) missense probably damaging 1.00
IGL03247:Washc4 APN 10 83,400,327 (GRCm39) missense probably benign 0.02
R0458:Washc4 UTSW 10 83,382,663 (GRCm39) missense possibly damaging 0.70
R0462:Washc4 UTSW 10 83,392,777 (GRCm39) missense probably benign 0.00
R0471:Washc4 UTSW 10 83,394,598 (GRCm39) splice site probably benign
R1144:Washc4 UTSW 10 83,416,194 (GRCm39) missense probably damaging 0.97
R1560:Washc4 UTSW 10 83,391,973 (GRCm39) missense probably damaging 0.99
R1789:Washc4 UTSW 10 83,415,389 (GRCm39) missense possibly damaging 0.92
R1819:Washc4 UTSW 10 83,386,748 (GRCm39) missense probably benign 0.08
R2421:Washc4 UTSW 10 83,415,385 (GRCm39) missense probably damaging 0.97
R2882:Washc4 UTSW 10 83,415,365 (GRCm39) missense possibly damaging 0.93
R2902:Washc4 UTSW 10 83,390,627 (GRCm39) nonsense probably null
R3436:Washc4 UTSW 10 83,405,866 (GRCm39) missense probably benign 0.33
R3437:Washc4 UTSW 10 83,405,866 (GRCm39) missense probably benign 0.33
R3552:Washc4 UTSW 10 83,382,720 (GRCm39) missense probably benign 0.45
R4646:Washc4 UTSW 10 83,410,407 (GRCm39) missense possibly damaging 0.71
R4647:Washc4 UTSW 10 83,410,407 (GRCm39) missense possibly damaging 0.71
R4648:Washc4 UTSW 10 83,410,407 (GRCm39) missense possibly damaging 0.71
R4732:Washc4 UTSW 10 83,410,343 (GRCm39) missense probably benign
R4733:Washc4 UTSW 10 83,410,343 (GRCm39) missense probably benign
R4750:Washc4 UTSW 10 83,426,916 (GRCm39) missense probably damaging 0.99
R4835:Washc4 UTSW 10 83,415,376 (GRCm39) missense possibly damaging 0.93
R5024:Washc4 UTSW 10 83,419,200 (GRCm39) missense possibly damaging 0.71
R5055:Washc4 UTSW 10 83,392,771 (GRCm39) missense probably damaging 0.99
R5414:Washc4 UTSW 10 83,391,967 (GRCm39) missense possibly damaging 0.95
R5423:Washc4 UTSW 10 83,415,418 (GRCm39) missense possibly damaging 0.71
R5428:Washc4 UTSW 10 83,410,386 (GRCm39) missense probably benign 0.00
R5506:Washc4 UTSW 10 83,417,201 (GRCm39) missense probably damaging 0.97
R5540:Washc4 UTSW 10 83,409,657 (GRCm39) missense probably damaging 0.99
R5667:Washc4 UTSW 10 83,405,892 (GRCm39) missense probably damaging 0.97
R5671:Washc4 UTSW 10 83,405,892 (GRCm39) missense probably damaging 0.97
R5777:Washc4 UTSW 10 83,391,469 (GRCm39) missense probably damaging 1.00
R6369:Washc4 UTSW 10 83,410,308 (GRCm39) missense probably damaging 1.00
R6370:Washc4 UTSW 10 83,407,226 (GRCm39) missense possibly damaging 0.85
R6500:Washc4 UTSW 10 83,394,687 (GRCm39) missense probably damaging 1.00
R6645:Washc4 UTSW 10 83,408,059 (GRCm39) nonsense probably null
R6657:Washc4 UTSW 10 83,394,482 (GRCm39) missense possibly damaging 0.92
R6829:Washc4 UTSW 10 83,396,380 (GRCm39) missense probably damaging 0.97
R6862:Washc4 UTSW 10 83,394,757 (GRCm39) missense possibly damaging 0.92
R6899:Washc4 UTSW 10 83,411,919 (GRCm39) missense probably benign 0.07
R7144:Washc4 UTSW 10 83,409,638 (GRCm39) critical splice acceptor site probably null
R7163:Washc4 UTSW 10 83,426,897 (GRCm39) missense probably damaging 0.99
R7477:Washc4 UTSW 10 83,410,307 (GRCm39) missense probably damaging 0.99
R7900:Washc4 UTSW 10 83,409,637 (GRCm39) splice site probably null
R8194:Washc4 UTSW 10 83,416,163 (GRCm39) missense possibly damaging 0.51
R8491:Washc4 UTSW 10 83,411,987 (GRCm39) missense probably benign 0.24
R8791:Washc4 UTSW 10 83,386,748 (GRCm39) missense probably benign 0.08
R8804:Washc4 UTSW 10 83,408,015 (GRCm39) missense probably damaging 0.99
R8896:Washc4 UTSW 10 83,405,882 (GRCm39) missense probably damaging 0.98
R8961:Washc4 UTSW 10 83,409,657 (GRCm39) missense probably damaging 0.99
R9084:Washc4 UTSW 10 83,422,499 (GRCm39) missense possibly damaging 0.92
R9452:Washc4 UTSW 10 83,396,387 (GRCm39) missense probably benign
R9532:Washc4 UTSW 10 83,417,258 (GRCm39) splice site probably benign
X0017:Washc4 UTSW 10 83,427,007 (GRCm39) missense probably damaging 1.00
X0066:Washc4 UTSW 10 83,394,693 (GRCm39) frame shift probably null
Z1088:Washc4 UTSW 10 83,412,605 (GRCm39) missense probably benign 0.07
Posted On 2013-12-03