Incidental Mutation 'IGL02103:Washc3'
ID 279823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Washc3
Ensembl Gene ENSMUSG00000020056
Gene Name WASH complex subunit 3
Synonyms Ccdc53, 2900091E11Rik, 5730495F03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02103
Quality Score
Status
Chromosome 10
Chromosomal Location 88036955-88082020 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88037687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 22 (Q22L)
Ref Sequence ENSEMBL: ENSMUSP00000138540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020248] [ENSMUST00000171151] [ENSMUST00000182183] [ENSMUST00000182299] [ENSMUST00000182619]
AlphaFold Q9CR27
Predicted Effect probably damaging
Transcript: ENSMUST00000020248
AA Change: Q22L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020248
Gene: ENSMUSG00000020056
AA Change: Q22L

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: Q22L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132246
Gene: ENSMUSG00000020056
AA Change: Q22L

DomainStartEndE-ValueType
Pfam:DUF2360 30 167 3.5e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182183
AA Change: Q22L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138540
Gene: ENSMUSG00000020056
AA Change: Q22L

DomainStartEndE-ValueType
Pfam:DUF2360 30 167 5.5e-52 PFAM
low complexity region 176 193 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000182299
AA Change: Q22L

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138261
Gene: ENSMUSG00000020056
AA Change: Q22L

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: Q15L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138310
Gene: ENSMUSG00000020056
AA Change: Q15L

DomainStartEndE-ValueType
Pfam:DUF2360 23 159 7.3e-41 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,659,138 (GRCm39) T206M probably benign Het
Adcy3 T A 12: 4,184,390 (GRCm39) V22D possibly damaging Het
Alb G A 5: 90,611,990 (GRCm39) E140K probably benign Het
Aph1a G A 3: 95,803,125 (GRCm39) V193I probably damaging Het
Asb2 G A 12: 103,299,755 (GRCm39) R178* probably null Het
Celf3 A T 3: 94,394,108 (GRCm39) Q137L probably damaging Het
Cmya5 T C 13: 93,228,635 (GRCm39) D2151G probably benign Het
Cuedc1 T A 11: 88,079,625 (GRCm39) S353T probably damaging Het
Dlg5 A C 14: 24,194,414 (GRCm39) L1709R probably damaging Het
Dst T C 1: 34,229,199 (GRCm39) I1939T possibly damaging Het
Emx2 A T 19: 59,450,130 (GRCm39) N149I probably benign Het
Fancm A G 12: 65,142,558 (GRCm39) D472G probably benign Het
Fasn T C 11: 120,702,762 (GRCm39) Y1700C probably damaging Het
Fat2 T A 11: 55,180,122 (GRCm39) R1406S probably damaging Het
Fat4 C A 3: 38,943,348 (GRCm39) T747K probably damaging Het
Fer A G 17: 64,445,923 (GRCm39) M795V probably benign Het
Gm5916 A G 9: 36,039,970 (GRCm39) L6P probably damaging Het
Gpr139 A G 7: 118,744,355 (GRCm39) F77L possibly damaging Het
Kcnu1 T C 8: 26,395,976 (GRCm39) S654P possibly damaging Het
Kdm5c T A X: 151,031,762 (GRCm39) F408L probably damaging Het
Kel A G 6: 41,679,323 (GRCm39) S147P probably benign Het
Klra5 A T 6: 129,888,307 (GRCm39) probably null Het
Mastl A G 2: 23,030,010 (GRCm39) S239P probably benign Het
Med18 A T 4: 132,186,977 (GRCm39) V174D probably damaging Het
Mgat4a A T 1: 37,502,007 (GRCm39) M247K possibly damaging Het
Mx2 A C 16: 97,345,795 (GRCm39) D71A probably damaging Het
Nxt1 G T 2: 148,517,564 (GRCm39) E102* probably null Het
Or14j1 A G 17: 38,146,169 (GRCm39) Q93R possibly damaging Het
Or3a1 A G 11: 74,225,862 (GRCm39) F65S probably damaging Het
Or7g16 T C 9: 18,727,005 (GRCm39) N195S probably damaging Het
Pcdhb16 T A 18: 37,613,161 (GRCm39) V707E probably benign Het
Pdzrn4 T A 15: 92,667,768 (GRCm39) V640E probably damaging Het
Piwil4 T C 9: 14,637,282 (GRCm39) probably null Het
Pla2g4a A T 1: 149,776,950 (GRCm39) D55E probably damaging Het
Plekhg2 C A 7: 28,059,501 (GRCm39) R1276L probably damaging Het
Psd4 G A 2: 24,290,540 (GRCm39) W539* probably null Het
Rae1 G A 2: 172,845,306 (GRCm39) E33K probably damaging Het
Rbm12b1 T A 4: 12,145,563 (GRCm39) F512I probably damaging Het
Rfx6 A G 10: 51,602,952 (GRCm39) D823G possibly damaging Het
Samt3 A T X: 85,090,759 (GRCm39) Q217L probably damaging Het
Selenbp2 A G 3: 94,605,438 (GRCm39) N134S probably null Het
Selenoo T C 15: 88,984,173 (GRCm39) V663A probably damaging Het
Sp4 G T 12: 118,263,284 (GRCm39) T254N probably damaging Het
Spdya A G 17: 71,885,242 (GRCm39) K232R probably benign Het
Stom A T 2: 35,210,401 (GRCm39) V201E probably benign Het
Sycp3 A G 10: 88,302,334 (GRCm39) K108R possibly damaging Het
Usp2 A G 9: 44,000,425 (GRCm39) probably benign Het
Vmn1r226 T C 17: 20,907,926 (GRCm39) S53P probably damaging Het
Vmn2r14 C T 5: 109,372,349 (GRCm39) G47D probably damaging Het
Vwf T G 6: 125,623,318 (GRCm39) L1805W probably damaging Het
Wdr81 T A 11: 75,335,546 (GRCm39) D1761V probably damaging Het
Other mutations in Washc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4763:Washc3 UTSW 10 88,055,185 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16