Incidental Mutation 'R9452:Washc4'
ID 714342
Institutional Source Beutler Lab
Gene Symbol Washc4
Ensembl Gene ENSMUSG00000034560
Gene Name WASH complex subunit 4
Synonyms A230046K03Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R9452 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 83379616-83432337 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83396387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 399 (N399S)
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: N399S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: N399S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,612,382 (GRCm39) Y564C probably null Het
Ablim2 A T 5: 36,015,198 (GRCm39) D470V probably benign Het
Actr10 T C 12: 71,006,818 (GRCm39) probably null Het
Adam4 T A 12: 81,467,071 (GRCm39) I517L probably benign Het
Ank1 C A 8: 23,622,429 (GRCm39) D1659E probably benign Het
Arnt2 A G 7: 83,933,334 (GRCm39) V308A probably benign Het
Avl9 T C 6: 56,706,726 (GRCm39) V184A probably damaging Het
Bag1 A T 4: 40,947,733 (GRCm39) I157N probably benign Het
Bicc1 A T 10: 70,792,981 (GRCm39) D224E probably damaging Het
C2 T G 17: 35,095,319 (GRCm39) I209L probably benign Het
Cacna1e A T 1: 154,289,720 (GRCm39) probably null Het
Capn1 T C 19: 6,057,287 (GRCm39) Y387C probably damaging Het
Cebpa A G 7: 34,819,033 (GRCm39) I64V possibly damaging Het
Celf4 T G 18: 25,624,219 (GRCm39) M436L probably benign Het
Cfb C A 17: 35,078,084 (GRCm39) V436L probably benign Het
Ciart C T 3: 95,788,527 (GRCm39) C104Y probably benign Het
Cmya5 A G 13: 93,232,394 (GRCm39) L898P probably benign Het
Cyp2c68 A T 19: 39,687,833 (GRCm39) M388K possibly damaging Het
Cypt12 T C 3: 18,002,843 (GRCm39) V72A probably benign Het
Dlec1 A G 9: 118,941,541 (GRCm39) D309G probably benign Het
Dnah1 A G 14: 31,018,448 (GRCm39) V1394A probably benign Het
Dpp3 A C 19: 4,973,750 (GRCm39) S108A probably benign Het
Eif5b C T 1: 38,084,861 (GRCm39) P903S probably damaging Het
Erc2 A G 14: 27,733,690 (GRCm39) D580G probably damaging Het
Fam98c A G 7: 28,852,901 (GRCm39) V44A probably benign Het
Fer A G 17: 64,231,067 (GRCm39) K273E probably benign Het
Gzme T A 14: 56,355,854 (GRCm39) I153F probably benign Het
Ice1 A T 13: 70,744,462 (GRCm39) N2040K probably damaging Het
Ifi214 G T 1: 173,356,894 (GRCm39) Q70K possibly damaging Het
Itpripl1 C A 2: 126,983,334 (GRCm39) E263* probably null Het
Kat8 A G 7: 127,524,421 (GRCm39) K433R probably benign Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Lefty1 A T 1: 180,762,849 (GRCm39) T59S probably benign Het
Lig3 C T 11: 82,681,448 (GRCm39) T481M probably damaging Het
Lrfn1 A T 7: 28,159,157 (GRCm39) I359F probably damaging Het
Lrp1b A T 2: 41,850,726 (GRCm39) C90* probably null Het
Micall2 T G 5: 139,703,311 (GRCm39) probably null Het
Mtmr3 G T 11: 4,441,037 (GRCm39) L539I probably damaging Het
Obscn C A 11: 58,924,962 (GRCm39) probably null Het
Olfml3 T C 3: 103,643,575 (GRCm39) T269A probably benign Het
Oprl1 C T 2: 181,360,454 (GRCm39) A170V possibly damaging Het
Or4c112 C T 2: 88,854,234 (GRCm39) G38R Het
Pdgfrb G A 18: 61,198,798 (GRCm39) V319M possibly damaging Het
Pirb G A 7: 3,720,617 (GRCm39) R294C possibly damaging Het
Piwil1 T C 5: 128,824,957 (GRCm39) S552P probably benign Het
Pkd2 T C 5: 104,614,841 (GRCm39) F228L probably damaging Het
Pkhd1 T A 1: 20,682,953 (GRCm39) D83V possibly damaging Het
Plcl1 A G 1: 55,734,992 (GRCm39) D111G probably damaging Het
Plpp2 A G 10: 79,363,702 (GRCm39) S162P probably damaging Het
Prex2 T A 1: 11,256,151 (GRCm39) I1174K probably benign Het
Prkdc T A 16: 15,485,465 (GRCm39) Y431N possibly damaging Het
Pter A G 2: 12,985,111 (GRCm39) D147G probably benign Het
Rbsn T C 6: 92,178,745 (GRCm39) D134G possibly damaging Het
Rnf220 T C 4: 117,153,339 (GRCm39) D299G probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,133 (GRCm39) probably benign Het
Scn2a G A 2: 65,595,163 (GRCm39) S2004N probably benign Het
Slc7a4 T A 16: 17,391,271 (GRCm39) N593I probably damaging Het
Spata31e3 T C 13: 50,400,808 (GRCm39) H506R possibly damaging Het
Speg T C 1: 75,399,152 (GRCm39) S2200P probably benign Het
Thoc2l T A 5: 104,669,610 (GRCm39) N1377K probably benign Het
Tle1 A T 4: 72,040,596 (GRCm39) H654Q probably benign Het
Ttll6 G A 11: 96,026,588 (GRCm39) R124H probably damaging Het
Vmn2r111 A G 17: 22,778,132 (GRCm39) C516R probably damaging Het
Vmn2r89 T C 14: 51,693,288 (GRCm39) S213P probably damaging Het
Vmn2r-ps158 A T 7: 42,697,257 (GRCm39) L771F possibly damaging Het
Wdr37 G A 13: 8,897,663 (GRCm39) H198Y Het
Zfp407 A G 18: 84,580,579 (GRCm39) L178P probably benign Het
Zfp882 C T 8: 72,668,831 (GRCm39) H553Y probably damaging Het
Zfp956 T C 6: 47,940,370 (GRCm39) V243A probably benign 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
IGL01524:Washc4 APN 10 83,411,996 (GRCm39) missense probably benign 0.37
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
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
Predicted Primers PCR Primer
(F):5'- CTGTAGCACTCTTCAGCACAGC -3'
(R):5'- AAAGAGCCAGCTCCTGCAAG -3'

Sequencing Primer
(F):5'- TTCAGCACAGCATCATTGGG -3'
(R):5'- GCAAGCTGTCTTCTTTCACACG -3'
Posted On 2022-06-15