Incidental Mutation 'IGL00769:Wdr53'
ID14841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr53
Ensembl Gene ENSMUSG00000022787
Gene NameWD repeat domain 53
Synonyms1500002B03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL00769
Quality Score
Status
Chromosome16
Chromosomal Location32247227-32257083 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 32256497 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 173 (W173*)
Ref Sequence ENSEMBL: ENSMUSP00000135908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023474] [ENSMUST00000135289] [ENSMUST00000141820] [ENSMUST00000178573]
Predicted Effect probably null
Transcript: ENSMUST00000023474
AA Change: W173*
SMART Domains Protein: ENSMUSP00000023474
Gene: ENSMUSG00000022787
AA Change: W173*

DomainStartEndE-ValueType
WD40 1 37 1.14e2 SMART
WD40 83 122 9.94e-1 SMART
WD40 125 165 3.09e-5 SMART
WD40 188 225 1.65e1 SMART
WD40 228 269 1.86e-8 SMART
Blast:WD40 314 354 4e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000135289
Predicted Effect probably null
Transcript: ENSMUST00000141820
AA Change: W173*
Predicted Effect probably null
Transcript: ENSMUST00000178573
AA Change: W173*
SMART Domains Protein: ENSMUSP00000135908
Gene: ENSMUSG00000022787
AA Change: W173*

DomainStartEndE-ValueType
WD40 1 37 1.14e2 SMART
WD40 83 122 9.94e-1 SMART
WD40 125 165 3.09e-5 SMART
WD40 188 225 1.65e1 SMART
WD40 228 269 1.86e-8 SMART
Blast:WD40 314 354 4e-11 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 protein containing WD domains. The function of this gene is unknown. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001P01Rik A G 11: 97,771,581 F155S probably damaging Het
9930111J21Rik1 A G 11: 48,948,212 V516A possibly damaging Het
A730017C20Rik T C 18: 59,072,277 S88P probably damaging Het
Ambp G A 4: 63,144,165 T279I probably damaging Het
Ankrd28 A G 14: 31,743,365 V285A possibly damaging Het
Arfgef3 A G 10: 18,660,604 S220P probably benign Het
Atp9b G T 18: 80,912,853 H129N probably benign Het
Cdh10 C A 15: 18,985,099 P283Q possibly damaging Het
Cep295 A G 9: 15,326,144 S1941P probably damaging Het
Dmbt1 T A 7: 131,082,500 S575R probably damaging Het
Dock11 A G X: 36,004,062 N796S possibly damaging Het
Enam A T 5: 88,501,484 Y284F possibly damaging Het
F8 A T X: 75,334,180 probably benign Het
Fbxo42 C T 4: 141,180,449 T140M probably damaging Het
Galnt13 G A 2: 54,880,104 E303K probably benign Het
Mrgprb4 T A 7: 48,198,901 D93V probably benign Het
Msl3 T A X: 168,668,748 E215V probably damaging Het
Pglyrp3 A T 3: 92,014,622 probably benign Het
Prdx1 G A 4: 116,692,965 D115N probably benign Het
Psd3 A T 8: 67,908,679 probably benign Het
Rundc1 A G 11: 101,434,274 D602G probably damaging Het
Slc4a1ap T G 5: 31,553,777 Y742D probably damaging Het
Ugt1a6a C T 1: 88,139,050 P193S probably damaging Het
Vmn2r96 G A 17: 18,583,819 V252M probably benign Het
Other mutations in Wdr53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Wdr53 APN 16 32251900 missense possibly damaging 0.68
R0041:Wdr53 UTSW 16 32256655 missense probably damaging 1.00
R0582:Wdr53 UTSW 16 32251908 missense probably damaging 0.96
R1750:Wdr53 UTSW 16 32252117 missense probably damaging 1.00
R1883:Wdr53 UTSW 16 32256498 missense possibly damaging 0.93
R2428:Wdr53 UTSW 16 32252190 missense probably benign 0.19
R3726:Wdr53 UTSW 16 32256720 missense probably benign 0.01
R4495:Wdr53 UTSW 16 32252151 missense probably benign 0.04
R4883:Wdr53 UTSW 16 32256978 nonsense probably null
R4884:Wdr53 UTSW 16 32256978 nonsense probably null
R4905:Wdr53 UTSW 16 32256658 missense probably benign 0.03
R6031:Wdr53 UTSW 16 32256718 missense probably damaging 1.00
R6031:Wdr53 UTSW 16 32256718 missense probably damaging 1.00
R6222:Wdr53 UTSW 16 32256664 missense probably benign 0.01
Z1088:Wdr53 UTSW 16 32252298 missense probably damaging 1.00
Posted On2012-12-06