Incidental Mutation 'IGL01663:Wdr20'
ID103236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr20
Ensembl Gene ENSMUSG00000037957
Gene NameWD repeat domain 20
SynonymsWdr20a, 2310040A13Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.896) question?
Stock #IGL01663
Quality Score
Status
Chromosome12
Chromosomal Location110737944-110804238 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 110793514 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 278 (V278E)
Ref Sequence ENSEMBL: ENSMUSP00000093059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095410] [ENSMUST00000192870] [ENSMUST00000193053] [ENSMUST00000195886]
Predicted Effect probably damaging
Transcript: ENSMUST00000095410
AA Change: V278E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000093059
Gene: ENSMUSG00000037957
AA Change: V278E

DomainStartEndE-ValueType
WD40 140 178 2.66e0 SMART
WD40 209 248 4.95e-4 SMART
WD40 251 290 1.47e-6 SMART
WD40 293 382 8.59e-1 SMART
Blast:WD40 464 559 2e-36 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000192870
SMART Domains Protein: ENSMUSP00000141887
Gene: ENSMUSG00000037957

DomainStartEndE-ValueType
Blast:WD40 89 131 1e-16 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000193053
SMART Domains Protein: ENSMUSP00000141678
Gene: ENSMUSG00000037957

DomainStartEndE-ValueType
Blast:WD40 89 131 2e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194118
Predicted Effect probably benign
Transcript: ENSMUST00000195886
SMART Domains Protein: ENSMUSP00000142157
Gene: ENSMUSG00000037957

DomainStartEndE-ValueType
Blast:WD40 29 71 1e-16 BLAST
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 WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,277,802 I1085V possibly damaging Het
Adamts16 T C 13: 70,793,141 T376A probably benign Het
Aifm3 T A 16: 17,502,786 probably null Het
Ankrd16 A G 2: 11,778,662 E25G probably damaging Het
Ano6 T A 15: 95,967,614 probably null Het
Cdh18 T C 15: 23,445,991 I509T possibly damaging Het
Cdon A G 9: 35,483,214 T919A possibly damaging Het
Clca3a2 G A 3: 144,817,155 P148L probably damaging Het
Dnph1 G T 17: 46,498,482 R74L probably benign Het
Epha6 C T 16: 59,775,644 A895T probably damaging Het
Exoc3l4 T A 12: 111,429,411 probably benign Het
Fbll1 A G 11: 35,797,821 I205T probably damaging Het
Frem2 T A 3: 53,517,013 H3001L probably damaging Het
Galk2 A G 2: 125,983,179 N432D probably benign Het
Gm7535 A C 17: 17,911,357 probably benign Het
Il10 A G 1: 131,021,414 E104G probably benign Het
Il1a T C 2: 129,304,717 K152R probably benign Het
Kdm1b T A 13: 47,073,737 N568K probably damaging Het
Kmt2c A C 5: 25,310,670 L2725R probably damaging Het
Krba1 G T 6: 48,411,754 L527F probably damaging Het
Lrp2 A G 2: 69,428,706 S4547P probably benign Het
Nin G T 12: 70,043,665 A992E possibly damaging Het
Olfr510 T A 7: 108,667,891 H158Q probably benign Het
Olfr740 G A 14: 50,453,150 V33M probably benign Het
Pcdhb1 A G 18: 37,267,133 I712M possibly damaging Het
Prmt2 C T 10: 76,217,309 probably null Het
Rbm20 T G 19: 53,840,995 V608G probably damaging Het
Smarcc2 C T 10: 128,488,977 probably benign Het
Speer3 A T 5: 13,793,222 R48* probably null Het
Tlr1 A T 5: 64,925,073 N720K possibly damaging Het
Tnfrsf21 A T 17: 43,087,811 M603L probably benign Het
Ttc3 T A 16: 94,409,731 probably null Het
Usp4 C A 9: 108,365,880 A249E possibly damaging Het
Other mutations in Wdr20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00552:Wdr20 APN 12 110779449 nonsense probably null
IGL02385:Wdr20 APN 12 110793223 missense probably benign
IGL02710:Wdr20 APN 12 110793110 splice site probably benign
IGL02993:Wdr20 APN 12 110794308 nonsense probably null
R1500:Wdr20 UTSW 12 110794030 missense probably benign
R1897:Wdr20 UTSW 12 110793723 missense probably benign
R2006:Wdr20 UTSW 12 110793568 missense probably damaging 1.00
R3615:Wdr20 UTSW 12 110793939 missense probably benign
R3616:Wdr20 UTSW 12 110793939 missense probably benign
R4023:Wdr20 UTSW 12 110793516 missense probably benign 0.01
R4026:Wdr20 UTSW 12 110793516 missense probably benign 0.01
R4157:Wdr20 UTSW 12 110738174 missense possibly damaging 0.68
R4868:Wdr20 UTSW 12 110738234 missense probably damaging 1.00
R6126:Wdr20 UTSW 12 110794102 missense probably benign
R6282:Wdr20 UTSW 12 110797009 unclassified probably benign
R6867:Wdr20 UTSW 12 110793699 missense probably benign
R7081:Wdr20 UTSW 12 110803450 missense possibly damaging 0.46
R7842:Wdr20 UTSW 12 110738215 missense probably benign 0.01
R7925:Wdr20 UTSW 12 110738215 missense probably benign 0.01
Posted On2014-01-21