Incidental Mutation 'R1750:Wdr53'
ID 193463
Institutional Source Beutler Lab
Gene Symbol Wdr53
Ensembl Gene ENSMUSG00000022787
Gene Name WD repeat domain 53
Synonyms 1500002B03Rik
MMRRC Submission 039782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R1750 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 32066047-32075901 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 32070935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 93 (N93K)
Ref Sequence ENSEMBL: ENSMUSP00000135908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023474] [ENSMUST00000042732] [ENSMUST00000135289] [ENSMUST00000141820] [ENSMUST00000178573]
AlphaFold Q9DB94
Predicted Effect probably damaging
Transcript: ENSMUST00000023474
AA Change: N93K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023474
Gene: ENSMUSG00000022787
AA Change: N93K

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 damaging
Transcript: ENSMUST00000135289
AA Change: N93K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000141820
AA Change: N93K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000178573
AA Change: N93K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135908
Gene: ENSMUSG00000022787
AA Change: N93K

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: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 91.9%
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik G T 7: 130,747,859 (GRCm39) N44K probably benign Het
Acd C A 8: 106,425,524 (GRCm39) A270S possibly damaging Het
Acnat1 G A 4: 49,451,042 (GRCm39) T23I probably benign Het
Adam26a T G 8: 44,023,226 (GRCm39) E88A possibly damaging Het
Adgrb1 G A 15: 74,413,676 (GRCm39) V589M probably benign Het
Agbl2 T A 2: 90,646,720 (GRCm39) probably benign Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Amh AGCGCCTTGG AG 10: 80,641,419 (GRCm39) probably null Het
Asap2 T C 12: 21,253,999 (GRCm39) L170P probably damaging Het
Btg2 T C 1: 134,006,769 (GRCm39) D8G probably benign Het
Cacna1g A T 11: 94,334,118 (GRCm39) V841E probably damaging Het
Cacna2d1 C T 5: 16,469,286 (GRCm39) P230L probably benign Het
Cacna2d2 A T 9: 107,401,843 (GRCm39) D766V probably damaging Het
Carns1 A G 19: 4,223,156 (GRCm39) W23R possibly damaging Het
Cdk11b T A 4: 155,713,137 (GRCm39) probably null Het
Chrna3 T C 9: 54,923,341 (GRCm39) S156G probably damaging Het
Cmya5 A T 13: 93,232,171 (GRCm39) N972K probably benign Het
Cpne7 C A 8: 123,861,263 (GRCm39) P541T probably damaging Het
Cracd A G 5: 77,005,522 (GRCm39) I628V unknown Het
Csmd1 A T 8: 15,967,303 (GRCm39) L3187I probably damaging Het
Dbt A G 3: 116,339,943 (GRCm39) I404V probably benign Het
Dgki A T 6: 36,893,369 (GRCm39) I819K probably damaging Het
Dip2b T A 15: 100,076,347 (GRCm39) S782T probably benign Het
Dlc1 A T 8: 37,325,244 (GRCm39) probably null Het
Dnajc13 A T 9: 104,098,676 (GRCm39) V459E probably damaging Het
Enam A G 5: 88,651,086 (GRCm39) E790G probably damaging Het
Epb41l4a G C 18: 33,961,261 (GRCm39) Y424* probably null Het
Extl1 A G 4: 134,089,999 (GRCm39) S370P probably benign Het
Fan1 T C 7: 64,022,761 (GRCm39) Y164C probably benign Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Fbxw25 A T 9: 109,479,141 (GRCm39) I370N probably benign Het
Fcgbp T A 7: 27,792,868 (GRCm39) Y957* probably null Het
Gkap1 C A 13: 58,384,857 (GRCm39) E77* probably null Het
Gkn1 A T 6: 87,326,105 (GRCm39) N28K unknown Het
Gls2 A G 10: 128,037,194 (GRCm39) E245G probably damaging Het
Glyat G A 19: 12,623,679 (GRCm39) V32I probably benign Het
Gm2431 A T 7: 141,811,762 (GRCm39) C47* probably null Het
Gm5431 T C 11: 48,785,658 (GRCm39) D239G probably benign Het
Ift70a1 C T 2: 75,810,599 (GRCm39) V495I probably benign Het
Inpp5d T C 1: 87,626,803 (GRCm39) F540L probably damaging Het
Kcna1 A C 6: 126,619,771 (GRCm39) I183S probably benign Het
Kpna2 G T 11: 106,882,271 (GRCm39) L212I probably damaging Het
Krt36 C G 11: 99,994,884 (GRCm39) R229S probably benign Het
Krt78 G A 15: 101,854,812 (GRCm39) H1000Y probably benign Het
Krt90 A G 15: 101,461,800 (GRCm39) probably benign Het
Ldlrad4 C A 18: 68,239,758 (GRCm39) F59L probably benign Het
Lrrc3b T C 14: 15,358,601 (GRCm38) N2D probably benign Het
Madd T C 2: 90,998,236 (GRCm39) D239G probably damaging Het
Mapk8ip3 C T 17: 25,133,433 (GRCm39) G332S probably null Het
Mastl A T 2: 23,036,093 (GRCm39) L141* probably null Het
Mdh1b T C 1: 63,758,681 (GRCm39) N304D probably benign Het
Mfsd4b3-ps G T 10: 39,823,929 (GRCm39) N110K probably benign Het
Mtus2 T C 5: 148,214,443 (GRCm39) S1035P probably damaging Het
Muc21 T A 17: 35,931,940 (GRCm39) probably benign Het
Myh11 T C 16: 14,033,654 (GRCm39) E1080G probably damaging Het
Myh11 T A 16: 14,018,622 (GRCm39) D1908V probably damaging Het
Mypn A C 10: 62,971,976 (GRCm39) M688R probably benign Het
Nat8l G T 5: 34,158,130 (GRCm39) C180F probably damaging Het
Nip7 T A 8: 107,784,018 (GRCm39) L86Q probably damaging Het
Nisch C T 14: 30,896,839 (GRCm39) probably benign Het
Nop2 A G 6: 125,114,601 (GRCm39) I283V probably benign Het
Oas1h T A 5: 121,009,840 (GRCm39) probably null Het
Or10ag56 T C 2: 87,139,196 (GRCm39) V41A probably benign Het
Or2g25 A C 17: 37,970,564 (GRCm39) I220S probably damaging Het
Or4c101 C A 2: 88,390,402 (GRCm39) D185E possibly damaging Het
Or4c104 T C 2: 88,586,117 (GRCm39) R301G probably benign Het
Or56b1b A T 7: 108,164,564 (GRCm39) L146* probably null Het
Or5w17 T A 2: 87,583,530 (GRCm39) D269V probably damaging Het
Or8b42 T A 9: 38,341,986 (GRCm39) M136K probably damaging Het
P4hb A G 11: 120,453,546 (GRCm39) V373A probably damaging Het
Pappa2 C A 1: 158,590,720 (GRCm39) E1645* probably null Het
Pcdh10 G T 3: 45,336,316 (GRCm39) E877* probably null Het
Pcdhb17 C T 18: 37,618,764 (GRCm39) R185C probably damaging Het
Pcdhb17 A G 18: 37,620,070 (GRCm39) H620R possibly damaging Het
Pdcl3 T A 1: 39,034,946 (GRCm39) F168I probably damaging Het
Pde4a T A 9: 21,114,528 (GRCm39) I365N probably damaging Het
Pdzd2 A G 15: 12,385,950 (GRCm39) V940A probably damaging Het
Picalm T A 7: 89,840,390 (GRCm39) S399T possibly damaging Het
Pigk A T 3: 152,450,101 (GRCm39) I249F probably damaging Het
Plxnb1 C A 9: 108,940,836 (GRCm39) H1570Q probably benign Het
Plxnc1 A G 10: 94,635,359 (GRCm39) Y1321H probably damaging Het
Ppm1g G A 5: 31,363,560 (GRCm39) S114F probably damaging Het
Rassf4 A G 6: 116,617,228 (GRCm39) M259T probably damaging Het
Rbm47 T C 5: 66,176,653 (GRCm39) K557E possibly damaging Het
Rhobtb1 A G 10: 69,115,236 (GRCm39) K21R probably damaging Het
Selenoi T C 5: 30,462,771 (GRCm39) F212S probably benign Het
Shc3 T G 13: 51,603,328 (GRCm39) Y259S probably damaging Het
Skic3 T A 13: 76,288,720 (GRCm39) L951Q possibly damaging Het
Slc11a2 T C 15: 100,299,168 (GRCm39) N134S probably damaging Het
Slc9a7 A T X: 20,028,717 (GRCm39) M368K probably damaging Het
Slx4ip T A 2: 136,888,669 (GRCm39) C117S probably damaging Het
Spata31d1d T A 13: 59,876,509 (GRCm39) Q342L probably benign Het
Spink13 T A 18: 62,740,820 (GRCm39) Y93F probably damaging Het
St6galnac5 A T 3: 152,551,958 (GRCm39) I203N possibly damaging Het
Syne2 T A 12: 76,099,579 (GRCm39) C5335S probably damaging Het
Tagap T A 17: 8,148,742 (GRCm39) D173E probably benign Het
Tekt3 A C 11: 62,960,867 (GRCm39) Y12S probably damaging Het
Tmem81 T A 1: 132,435,321 (GRCm39) N42K probably damaging Het
Tnc A G 4: 63,890,972 (GRCm39) W1728R probably damaging Het
Ttc33 C T 15: 5,241,579 (GRCm39) R135* probably null Het
Unc5c A G 3: 141,533,278 (GRCm39) D842G possibly damaging Het
Usp43 A T 11: 67,770,779 (GRCm39) H618Q probably damaging Het
Vmn2r50 T G 7: 9,786,915 (GRCm39) N64T possibly damaging Het
Vmn2r53 T C 7: 12,315,632 (GRCm39) Y729C probably damaging Het
Vmn2r59 T A 7: 41,695,251 (GRCm39) H387L possibly damaging Het
Vstm2a G T 11: 16,213,166 (GRCm39) V184F possibly damaging Het
Wdr95 A G 5: 149,505,351 (GRCm39) probably null Het
Xpot A T 10: 121,438,932 (GRCm39) probably null Het
Xrcc5 C T 1: 72,364,246 (GRCm39) Q233* probably null Het
Zbtb18 T A 1: 177,275,077 (GRCm39) C137S possibly damaging Het
Zfp58 C A 13: 67,639,598 (GRCm39) G298* probably null Het
Zfp963 A G 8: 70,196,100 (GRCm39) S118P possibly damaging Het
Zmynd15 A T 11: 70,353,393 (GRCm39) Q336L probably benign Het
Other mutations in Wdr53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Wdr53 APN 16 32,075,315 (GRCm39) nonsense probably null
IGL01399:Wdr53 APN 16 32,070,718 (GRCm39) missense possibly damaging 0.68
R0041:Wdr53 UTSW 16 32,075,473 (GRCm39) missense probably damaging 1.00
R0582:Wdr53 UTSW 16 32,070,726 (GRCm39) missense probably damaging 0.96
R1883:Wdr53 UTSW 16 32,075,316 (GRCm39) missense possibly damaging 0.93
R2428:Wdr53 UTSW 16 32,071,008 (GRCm39) missense probably benign 0.19
R3726:Wdr53 UTSW 16 32,075,538 (GRCm39) missense probably benign 0.01
R4495:Wdr53 UTSW 16 32,070,969 (GRCm39) missense probably benign 0.04
R4883:Wdr53 UTSW 16 32,075,796 (GRCm39) nonsense probably null
R4884:Wdr53 UTSW 16 32,075,796 (GRCm39) nonsense probably null
R4905:Wdr53 UTSW 16 32,075,476 (GRCm39) missense probably benign 0.03
R6031:Wdr53 UTSW 16 32,075,536 (GRCm39) missense probably damaging 1.00
R6031:Wdr53 UTSW 16 32,075,536 (GRCm39) missense probably damaging 1.00
R6222:Wdr53 UTSW 16 32,075,482 (GRCm39) missense probably benign 0.01
R8903:Wdr53 UTSW 16 32,071,130 (GRCm39) missense probably damaging 1.00
R8954:Wdr53 UTSW 16 32,075,473 (GRCm39) missense probably damaging 1.00
R9013:Wdr53 UTSW 16 32,075,413 (GRCm39) missense probably damaging 0.98
R9587:Wdr53 UTSW 16 32,075,830 (GRCm39) missense probably damaging 1.00
Z1088:Wdr53 UTSW 16 32,071,116 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTCAAGTGGACTGGTGGACATTC -3'
(R):5'- CCTCTGAGGTCGAAAAGCCACAG -3'

Sequencing Primer
(F):5'- CCTTTGCCTGAATGCAAATAAAGAC -3'
(R):5'- GCCACAGAGGAACAGATGTTG -3'
Posted On 2014-05-23