Incidental Mutation 'IGL00552:Wdr20'
ID14834
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 #IGL00552
Quality Score
Status
Chromosome12
Chromosomal Location110737944-110804238 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 110779449 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 75 (K75*)
Ref Sequence ENSEMBL: ENSMUSP00000142157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095410] [ENSMUST00000192870] [ENSMUST00000193053] [ENSMUST00000195886]
Predicted Effect probably null
Transcript: ENSMUST00000095410
AA Change: K135*
SMART Domains Protein: ENSMUSP00000093059
Gene: ENSMUSG00000037957
AA Change: K135*

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 null
Transcript: ENSMUST00000192870
AA Change: K135*
SMART Domains Protein: ENSMUSP00000141887
Gene: ENSMUSG00000037957
AA Change: K135*

DomainStartEndE-ValueType
Blast:WD40 89 131 1e-16 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000193053
AA Change: K135*
SMART Domains Protein: ENSMUSP00000141678
Gene: ENSMUSG00000037957
AA Change: K135*

DomainStartEndE-ValueType
Blast:WD40 89 131 2e-16 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000195886
AA Change: K75*
SMART Domains Protein: ENSMUSP00000142157
Gene: ENSMUSG00000037957
AA Change: K75*

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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Camta1 A T 4: 151,071,424 probably null Het
Celsr3 A T 9: 108,841,263 N2338Y possibly damaging Het
Dnm3 A G 1: 162,011,926 V683A probably damaging Het
Gm11565 T C 11: 99,915,076 L98P probably damaging Het
Il21r A T 7: 125,632,525 D375V probably damaging Het
Oxct2b A G 4: 123,117,508 D407G probably damaging Het
Ppp1r3a A G 6: 14,755,084 Y55H probably damaging Het
Rftn1 A T 17: 50,055,377 V231E probably benign Het
Serpini1 C T 3: 75,640,695 R393* probably null Het
Sumo3 T A 10: 77,614,026 I66N probably damaging Het
Ubr1 T C 2: 120,875,407 H1525R possibly damaging Het
Washc2 A G 6: 116,256,824 N937S possibly damaging Het
Zscan20 G T 4: 128,586,635 Q688K probably damaging Het
Other mutations in Wdr20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01663:Wdr20 APN 12 110793514 missense probably damaging 1.00
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
R8045:Wdr20 UTSW 12 110793319
Posted On2012-12-06