Incidental Mutation 'R4763:Washc3'
ID 357040
Institutional Source Beutler Lab
Gene Symbol Washc3
Ensembl Gene ENSMUSG00000020056
Gene Name WASH complex subunit 3
Synonyms Ccdc53, 2900091E11Rik, 5730495F03Rik
MMRRC Submission 042404-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4763 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 88036955-88082020 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88055185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 125 (D125G)
Ref Sequence ENSEMBL: ENSMUSP00000138310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020248] [ENSMUST00000171151] [ENSMUST00000182183] [ENSMUST00000182299] [ENSMUST00000182619]
AlphaFold Q9CR27
Predicted Effect probably damaging
Transcript: ENSMUST00000020248
AA Change: D133G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020248
Gene: ENSMUSG00000020056
AA Change: D133G

DomainStartEndE-ValueType
Pfam:DUF2360 30 167 1.8e-51 PFAM
low complexity region 177 194 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171151
AA Change: D133G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132246
Gene: ENSMUSG00000020056
AA Change: D133G

DomainStartEndE-ValueType
Pfam:DUF2360 30 167 3.5e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182183
AA Change: D132G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138540
Gene: ENSMUSG00000020056
AA Change: D132G

DomainStartEndE-ValueType
Pfam:DUF2360 30 167 5.5e-52 PFAM
low complexity region 176 193 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182299
SMART Domains Protein: ENSMUSP00000138261
Gene: ENSMUSG00000020056

DomainStartEndE-ValueType
Pfam:DUF2360 30 50 2.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182359
Predicted Effect probably damaging
Transcript: ENSMUST00000182619
AA Change: D125G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138310
Gene: ENSMUSG00000020056
AA Change: D125G

DomainStartEndE-ValueType
Pfam:DUF2360 23 159 7.3e-41 PFAM
Meta Mutation Damage Score 0.9018 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 97% (73/75)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610303G11Rik A G 9: 98,069,176 (GRCm39) noncoding transcript Het
Abhd2 A G 7: 79,009,879 (GRCm39) E418G probably benign Het
Acox2 G T 14: 8,241,334 (GRCm38) H593N possibly damaging Het
Adam17 A G 12: 21,384,016 (GRCm39) Y495H probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arhgap44 A G 11: 64,929,991 (GRCm39) I240T probably damaging Het
Atp2c1 T C 9: 105,295,766 (GRCm39) T653A probably damaging Het
Atxn7l1 G A 12: 33,408,877 (GRCm39) probably benign Het
Cacng8 T C 7: 3,463,508 (GRCm39) V220A probably damaging Het
Card14 A T 11: 119,234,001 (GRCm39) S864C probably damaging Het
Cfap58 C T 19: 47,971,945 (GRCm39) A625V probably damaging Het
Cfap61 T C 2: 145,859,287 (GRCm39) V425A probably benign Het
Cfap73 A G 5: 120,768,294 (GRCm39) F155L probably damaging Het
Cntrl G T 2: 35,065,563 (GRCm39) R2235L probably damaging Het
Cxxc1 A G 18: 74,352,484 (GRCm39) K355E probably damaging Het
Disc1 G A 8: 125,851,277 (GRCm39) G387D probably damaging Het
Dpf2 T C 19: 5,952,480 (GRCm39) Y286C probably damaging Het
E2f7 A T 10: 110,616,710 (GRCm39) K650M probably damaging Het
Fbln2 C T 6: 91,246,982 (GRCm39) S1027F probably damaging Het
Foxj2 G T 6: 122,810,230 (GRCm39) Q196H probably benign Het
Gm6811 A G 17: 21,314,109 (GRCm39) noncoding transcript Het
Gtf2i T C 5: 134,284,818 (GRCm39) K409E probably damaging Het
Hamp T A 7: 30,641,989 (GRCm39) R55S probably damaging Het
Heatr1 C T 13: 12,445,811 (GRCm39) T1596I possibly damaging Het
Hells T C 19: 38,945,643 (GRCm39) V601A probably damaging Het
Ighv5-8 A G 12: 113,617,161 (GRCm39) S34P probably damaging Het
Lig4 T C 8: 10,022,955 (GRCm39) D275G probably damaging Het
Meak7 A G 8: 120,495,122 (GRCm39) V212A probably benign Het
Med6 T C 12: 81,629,435 (GRCm39) D59G probably damaging Het
Men1 T C 19: 6,385,102 (GRCm39) probably null Het
Mlec G A 5: 115,295,972 (GRCm39) A41V unknown Het
Ncoa1 G A 12: 4,325,297 (GRCm39) T927I probably damaging Het
Neb T A 2: 52,127,052 (GRCm39) K378* probably null Het
Neb T A 2: 52,216,732 (GRCm39) K148* probably null Het
Or4b13 T A 2: 90,082,807 (GRCm39) Y175F probably damaging Het
Or4k41 T A 2: 111,280,023 (GRCm39) C179* probably null Het
Or5p73 G A 7: 108,065,393 (GRCm39) M287I probably benign Het
Or8g26 A G 9: 39,096,256 (GRCm39) T261A probably benign Het
Parp10 C T 15: 76,117,627 (GRCm39) V920M probably damaging Het
Parp6 C A 9: 59,538,648 (GRCm39) P241H probably damaging Het
Pcyox1l A G 18: 61,830,850 (GRCm39) Y341H probably benign Het
Pfas A T 11: 68,881,020 (GRCm39) D1080E possibly damaging Het
Pi4kb G T 3: 94,911,720 (GRCm39) probably benign Het
Piwil2 C T 14: 70,614,227 (GRCm39) V846M probably damaging Het
Pkd1l2 A G 8: 117,746,168 (GRCm39) F1941L probably damaging Het
Pot1b G A 17: 56,002,160 (GRCm39) T138M possibly damaging Het
Ppp4r1 T C 17: 66,142,105 (GRCm39) I720T possibly damaging Het
Prr12 A G 7: 44,697,119 (GRCm39) L932S unknown Het
Rnaseh2a T A 8: 85,692,021 (GRCm39) E84V probably benign Het
Rpl18a G A 8: 71,348,330 (GRCm39) R118C probably benign Het
Rprm C A 2: 53,975,228 (GRCm39) C30F possibly damaging Het
Sbf2 G T 7: 110,020,124 (GRCm39) L579I probably damaging Het
Sfn C A 4: 133,328,656 (GRCm39) R142L probably benign Het
St8sia6 T C 2: 13,677,341 (GRCm39) K159E probably damaging Het
Sugct A T 13: 17,837,372 (GRCm39) F86L probably damaging Het
Tmcc3 T C 10: 94,415,173 (GRCm39) S292P probably damaging Het
Tmem33 A T 5: 67,443,479 (GRCm39) I219F probably benign Het
Trav8-1 C A 14: 53,707,492 (GRCm39) T44K possibly damaging Het
U2surp A G 9: 95,393,844 (GRCm39) probably benign Het
Use1 T C 8: 71,819,952 (GRCm39) L25P probably damaging Het
Vmn1r221 G T 13: 23,401,958 (GRCm39) noncoding transcript Het
Vmn1r50 C T 6: 90,085,062 (GRCm39) T269I probably benign Het
Zfp142 G A 1: 74,615,671 (GRCm39) H278Y probably damaging Het
Zfp418 A G 7: 7,184,444 (GRCm39) N136D possibly damaging Het
Other mutations in Washc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02103:Washc3 APN 10 88,037,687 (GRCm39) missense probably damaging 1.00
R3780:Washc3 UTSW 10 88,055,122 (GRCm39) missense probably benign 0.29
R4135:Washc3 UTSW 10 88,055,142 (GRCm39) missense probably benign 0.01
R4489:Washc3 UTSW 10 88,051,893 (GRCm39) missense probably benign 0.06
R4538:Washc3 UTSW 10 88,051,871 (GRCm39) missense probably benign 0.25
R4773:Washc3 UTSW 10 88,055,124 (GRCm39) nonsense probably null
R6572:Washc3 UTSW 10 88,049,568 (GRCm39) missense probably benign 0.01
R6933:Washc3 UTSW 10 88,037,714 (GRCm39) missense probably damaging 0.98
R7064:Washc3 UTSW 10 88,081,635 (GRCm39) missense possibly damaging 0.94
R7803:Washc3 UTSW 10 88,051,937 (GRCm39) critical splice donor site probably null
R8120:Washc3 UTSW 10 88,037,159 (GRCm39) splice site probably null
R9055:Washc3 UTSW 10 88,051,916 (GRCm39) missense probably benign 0.00
R9189:Washc3 UTSW 10 88,051,916 (GRCm39) missense probably benign 0.00
X0065:Washc3 UTSW 10 88,070,293 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- TCATTGCATCTCAGGAACAATCTG -3'
(R):5'- ATGGGAAAGGCTGGACTTCTG -3'

Sequencing Primer
(F):5'- GGATCCTTTCTGTGAACTGT -3'
(R):5'- AAAGGCTGGACTTCTGGTTTC -3'
Posted On 2015-11-11