Incidental Mutation 'R4026:Wdr20'
ID 312998
Institutional Source Beutler Lab
Gene Symbol Wdr20
Ensembl Gene ENSMUSG00000037957
Gene Name WD repeat domain 20
Synonyms Wdr20a, 2310040A13Rik
MMRRC Submission 040849-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.916) question?
Stock # R4026 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 110704378-110770672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110759950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 279 (T279A)
Ref Sequence ENSEMBL: ENSMUSP00000093059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095410] [ENSMUST00000192870] [ENSMUST00000193053] [ENSMUST00000195886]
AlphaFold Q3UWE6
Predicted Effect probably benign
Transcript: ENSMUST00000095410
AA Change: T279A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000093059
Gene: ENSMUSG00000037957
AA Change: T279A

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
Meta Mutation Damage Score 0.1728 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.1%
Validation Efficiency 97% (36/37)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 A T 16: 56,550,661 (GRCm39) Y684N probably damaging Het
Ahnak G T 19: 8,988,663 (GRCm39) V3316F probably damaging Het
Cacna1a C T 8: 85,307,962 (GRCm39) T1409I probably damaging Het
Ccdc158 A G 5: 92,791,666 (GRCm39) M698T probably benign Het
Ces2g T A 8: 105,691,377 (GRCm39) V171E probably damaging Het
Ctnna2 A T 6: 77,613,827 (GRCm39) D254E possibly damaging Het
Dlec1 T C 9: 118,966,408 (GRCm39) Y1126H probably damaging Het
Dspp G A 5: 104,325,563 (GRCm39) S642N unknown Het
Fezf2 A T 14: 12,343,986 (GRCm38) C302S probably damaging Het
Gm10754 A G 10: 97,517,978 (GRCm39) probably benign Het
Gm5581 G A 6: 131,144,031 (GRCm39) noncoding transcript Het
Gm7929 T C 14: 41,472,509 (GRCm39) K21E probably damaging Het
Hmcn1 A T 1: 150,598,120 (GRCm39) D1727E probably benign Het
Lrriq4 T C 3: 30,704,422 (GRCm39) V150A possibly damaging Het
Micu3 A G 8: 40,812,496 (GRCm39) probably benign Het
Mrpl3 T C 9: 104,948,685 (GRCm39) probably null Het
Myo1e A G 9: 70,232,157 (GRCm39) I229V probably benign Het
Ncam1 T C 9: 49,476,295 (GRCm39) I265V probably benign Het
Ncoa7 T C 10: 30,598,720 (GRCm39) T68A probably benign Het
Oprk1 T C 1: 5,668,908 (GRCm39) V118A probably benign Het
Ppp3r1 T C 11: 17,144,786 (GRCm39) V133A probably damaging Het
Sidt1 A G 16: 44,102,249 (GRCm39) S304P possibly damaging Het
Srsf6 T A 2: 162,776,211 (GRCm39) probably benign Het
Tas2r105 A G 6: 131,663,789 (GRCm39) V213A probably benign Het
Tlr12 C T 4: 128,510,301 (GRCm39) E650K probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trav4-2 T A 14: 53,656,287 (GRCm39) D96E possibly damaging Het
Vmn1r34 T A 6: 66,614,688 (GRCm39) M17L probably benign Het
Vmn2r6 A T 3: 64,445,671 (GRCm39) S685T possibly damaging Het
Vmn2r89 T C 14: 51,689,500 (GRCm39) M1T probably null Het
Zfp407 A G 18: 84,577,721 (GRCm39) S1131P possibly damaging Het
Zfyve1 A G 12: 83,641,296 (GRCm39) V120A probably benign Het
Other mutations in Wdr20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00552:Wdr20 APN 12 110,745,883 (GRCm39) nonsense probably null
IGL01663:Wdr20 APN 12 110,759,948 (GRCm39) missense probably damaging 1.00
IGL02385:Wdr20 APN 12 110,759,657 (GRCm39) missense probably benign
IGL02710:Wdr20 APN 12 110,759,544 (GRCm39) splice site probably benign
IGL02993:Wdr20 APN 12 110,760,742 (GRCm39) nonsense probably null
R1500:Wdr20 UTSW 12 110,760,464 (GRCm39) missense probably benign
R1897:Wdr20 UTSW 12 110,760,157 (GRCm39) missense probably benign
R2006:Wdr20 UTSW 12 110,760,002 (GRCm39) missense probably damaging 1.00
R3615:Wdr20 UTSW 12 110,760,373 (GRCm39) missense probably benign
R3616:Wdr20 UTSW 12 110,760,373 (GRCm39) missense probably benign
R4023:Wdr20 UTSW 12 110,759,950 (GRCm39) missense probably benign 0.01
R4157:Wdr20 UTSW 12 110,704,608 (GRCm39) missense possibly damaging 0.68
R4868:Wdr20 UTSW 12 110,704,668 (GRCm39) missense probably damaging 1.00
R6126:Wdr20 UTSW 12 110,760,536 (GRCm39) missense probably benign
R6282:Wdr20 UTSW 12 110,763,443 (GRCm39) unclassified probably benign
R6867:Wdr20 UTSW 12 110,760,133 (GRCm39) missense probably benign
R7081:Wdr20 UTSW 12 110,769,884 (GRCm39) missense possibly damaging 0.46
R7842:Wdr20 UTSW 12 110,704,649 (GRCm39) missense probably benign 0.01
R8045:Wdr20 UTSW 12 110,759,753 (GRCm39) missense probably damaging 1.00
R8244:Wdr20 UTSW 12 110,760,076 (GRCm39) missense probably benign 0.01
R9127:Wdr20 UTSW 12 110,759,597 (GRCm39) missense possibly damaging 0.93
R9561:Wdr20 UTSW 12 110,760,187 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GAACCCTCTCCTTAAGTGGACG -3'
(R):5'- GCTCGATCTCTGCCAAAATGAAG -3'

Sequencing Primer
(F):5'- CTCCTTAAGTGGACGGTGGGC -3'
(R):5'- AGAAGGTCCTGGAAGTCCTC -3'
Posted On 2015-04-30