Incidental Mutation 'R4495:Wdr53'
ID330945
Institutional Source Beutler Lab
Gene Symbol Wdr53
Ensembl Gene ENSMUSG00000022787
Gene NameWD repeat domain 53
Synonyms1500002B03Rik
MMRRC Submission 041583-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #R4495 (G1)
Quality Score225
Status Not validated
Chromosome16
Chromosomal Location32247227-32257083 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32252151 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 105 (T105A)
Ref Sequence ENSEMBL: ENSMUSP00000135908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023474] [ENSMUST00000042732] [ENSMUST00000135289] [ENSMUST00000141820] [ENSMUST00000178573]
Predicted Effect probably benign
Transcript: ENSMUST00000023474
AA Change: T105A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000023474
Gene: ENSMUSG00000022787
AA Change: T105A

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: ENSMUST00000042732
SMART Domains Protein: ENSMUSP00000040168
Gene: ENSMUSG00000035764

DomainStartEndE-ValueType
low complexity region 2 37 N/A INTRINSIC
FBOX 39 82 4e-4 SMART
SPRY 152 284 1.87e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135289
AA Change: T105A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000141820
AA Change: T105A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000178573
AA Change: T105A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000135908
Gene: ENSMUSG00000022787
AA Change: T105A

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Calcr A T 6: 3,708,484 probably null Het
Cdh4 T C 2: 179,780,389 V102A probably damaging Het
Cmya5 T C 13: 93,094,065 E1505G probably benign Het
Cyp2b9 T A 7: 26,200,755 D329E probably benign Het
Ddx47 T C 6: 135,021,466 F375S possibly damaging Het
Dnah7b T G 1: 46,085,632 S154A probably benign Het
Fry G T 5: 150,310,463 E133D probably damaging Het
Hydin T C 8: 110,595,402 L4562P probably damaging Het
Ifnlr1 A T 4: 135,705,768 E505V probably damaging Het
Igfn1 T C 1: 135,969,678 E1050G possibly damaging Het
Kidins220 T A 12: 25,038,302 probably null Het
Klra10 T G 6: 130,279,348 E114D probably benign Het
Lyst G A 13: 13,635,383 R546H probably damaging Het
Mrc2 G A 11: 105,348,431 probably null Het
Mrgpra3 T C 7: 47,590,065 I38V probably benign Het
Nfkb2 A G 19: 46,308,439 D316G probably damaging Het
Nrxn2 A T 19: 6,531,399 T412S probably benign Het
Olfr1281 T A 2: 111,329,020 N200K probably benign Het
Palm3 C T 8: 84,026,866 R97C probably damaging Het
Pdcd11 T C 19: 47,111,006 V848A probably benign Het
Prdx1 T C 4: 116,699,219 V188A probably benign Het
Prep T C 10: 45,120,819 F398L probably benign Het
Prlhr A T 19: 60,467,081 M349K probably benign Het
Rwdd2b T C 16: 87,434,562 T235A probably benign Het
Scn1a T C 2: 66,280,802 probably null Het
Sidt1 C T 16: 44,282,478 V295M probably damaging Het
Sla T C 15: 66,801,512 T10A probably benign Het
Slc22a20 A G 19: 5,984,924 S170P probably benign Het
Syt6 C A 3: 103,587,560 C280* probably null Het
Thbs2 A G 17: 14,671,413 I954T probably damaging Het
Tmprss11b T A 5: 86,665,063 K125* probably null Het
Ugt1a6a T A 1: 88,139,183 L237H probably damaging Het
Vmn2r68 TCC TC 7: 85,221,550 probably null Het
Xkrx T C X: 134,150,996 N302S possibly damaging Het
Zfp704 T A 3: 9,471,077 S128C probably benign Het
Zfp759 A G 13: 67,138,925 probably null Het
Zfyve16 A T 13: 92,488,567 D1494E probably benign Het
Other mutations in Wdr53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Wdr53 APN 16 32256497 nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- TGAAGATGGGACCCCGTTAG -3'
(R):5'- TGCTCAGAAATTACCCAAATGCTC -3'

Sequencing Primer
(F):5'- CCCGTTAGGACACATGCAATTGG -3'
(R):5'- CAGAAATTACCCAAATGCTCTTTGC -3'
Posted On2015-07-21