Incidental Mutation 'R9013:Wdr53'
ID 685799
Institutional Source Beutler Lab
Gene Symbol Wdr53
Ensembl Gene ENSMUSG00000022787
Gene Name WD repeat domain 53
Synonyms 1500002B03Rik
MMRRC Submission 068843-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R9013 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 32066047-32075901 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32075413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 206 (A206V)
Ref Sequence ENSEMBL: ENSMUSP00000023474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023474] [ENSMUST00000135289] [ENSMUST00000141820] [ENSMUST00000178573]
AlphaFold Q9DB94
Predicted Effect probably damaging
Transcript: ENSMUST00000023474
AA Change: A206V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023474
Gene: ENSMUSG00000022787
AA Change: A206V

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 damaging
Transcript: ENSMUST00000141820
AA Change: A206V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000178573
AA Change: A206V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135908
Gene: ENSMUSG00000022787
AA Change: A206V

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
Meta Mutation Damage Score 0.4314 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik G T 14: 70,394,176 (GRCm39) L200I probably damaging Het
Afap1 G A 5: 36,133,932 (GRCm39) D456N possibly damaging Het
Afm A T 5: 90,671,594 (GRCm39) D92V probably damaging Het
Ahi1 T C 10: 20,883,658 (GRCm39) I841T probably benign Het
Asb1 T C 1: 91,480,163 (GRCm39) probably null Het
Astn1 A T 1: 158,348,070 (GRCm39) I507F probably damaging Het
Astn2 A G 4: 65,910,584 (GRCm39) M468T probably benign Het
C030006K11Rik T C 15: 76,608,004 (GRCm39) S5G probably benign Het
C9 A T 15: 6,516,193 (GRCm39) D332V probably damaging Het
Cacna1c A T 6: 118,719,266 (GRCm39) S423T probably damaging Het
Cbx8 T C 11: 118,929,649 (GRCm39) I315V possibly damaging Het
Ccdc50 T A 16: 27,228,106 (GRCm39) I91N probably damaging Het
Col4a1 T A 8: 11,272,270 (GRCm39) I707L probably benign Het
Cyc1 T C 15: 76,229,019 (GRCm39) V154A possibly damaging Het
Cyp4f40 A T 17: 32,890,173 (GRCm39) H281L probably benign Het
D130052B06Rik T G 11: 33,573,491 (GRCm39) C74W unknown Het
Dap G A 15: 31,273,344 (GRCm39) G66D probably damaging Het
Dclk3 A T 9: 111,297,566 (GRCm39) H370L probably benign Het
Dgka C A 10: 128,566,071 (GRCm39) E360* probably null Het
Dst A G 1: 34,217,165 (GRCm39) I1202V possibly damaging Het
Fzd10 C G 5: 128,679,369 (GRCm39) P363R probably damaging Het
Gpx2 A G 12: 76,842,118 (GRCm39) L11P probably damaging Het
Greb1 A G 12: 16,789,970 (GRCm39) L26S probably damaging Het
Gtpbp2 A G 17: 46,475,740 (GRCm39) K163R probably benign Het
Hsd3b1 A T 3: 98,759,977 (GRCm39) L338Q probably damaging Het
Il15ra A G 2: 11,732,576 (GRCm39) S67G probably benign Het
Kcnc2 C T 10: 112,107,723 (GRCm39) A38V probably damaging Het
Kif19b A T 5: 140,449,368 (GRCm39) Y180F probably damaging Het
Klk1b16 A G 7: 43,790,332 (GRCm39) D169G probably benign Het
Kmt2a T C 9: 44,761,208 (GRCm39) K214E probably damaging Het
Lcor T A 19: 41,573,189 (GRCm39) V648D probably damaging Het
Lrriq1 C T 10: 103,050,931 (GRCm39) G607D probably damaging Het
Lysmd3 T A 13: 81,817,580 (GRCm39) S186T probably damaging Het
Meis1 G T 11: 18,966,354 (GRCm39) D6E probably benign Het
Mfsd4b2 T G 10: 39,798,062 (GRCm39) T98P probably benign Het
Muc16 T A 9: 18,424,069 (GRCm39) E8193V possibly damaging Het
Nr1i3 A G 1: 171,042,026 (GRCm39) T37A probably damaging Het
Nr5a2 A T 1: 136,872,745 (GRCm39) D112E probably damaging Het
Oas1c A G 5: 120,943,497 (GRCm39) I214T probably damaging Het
Omp A G 7: 97,794,552 (GRCm39) M25T probably benign Het
Or12d17 G A 17: 37,777,441 (GRCm39) V115M probably benign Het
Or12j4 A T 7: 140,046,179 (GRCm39) R22W probably benign Het
Or13c9 C A 4: 52,935,900 (GRCm39) A128S probably benign Het
Or5p58 A G 7: 107,694,471 (GRCm39) I102T probably benign Het
Or6c210 T C 10: 129,495,702 (GRCm39) F9S probably damaging Het
Or7g12 A T 9: 18,899,874 (GRCm39) I197F possibly damaging Het
Paf1 A G 7: 28,098,133 (GRCm39) E381G unknown Het
Pcdhga8 A G 18: 37,858,997 (GRCm39) T18A probably benign Het
Pclo T C 5: 14,727,627 (GRCm39) S2162P unknown Het
Psg25 T C 7: 18,258,690 (GRCm39) I329V probably benign Het
Ptov1 A G 7: 44,514,985 (GRCm39) S209P possibly damaging Het
Ralgapb A G 2: 158,279,060 (GRCm39) K397E probably damaging Het
Ryr2 T A 13: 11,618,618 (GRCm39) T3866S probably damaging Het
Sdccag8 G A 1: 176,652,371 (GRCm39) V41I probably benign Het
Sdf2l1 T A 16: 16,948,630 (GRCm39) D136V possibly damaging Het
Slc26a7 A T 4: 14,506,514 (GRCm39) S612T probably damaging Het
Snf8 T C 11: 95,930,126 (GRCm39) F43L probably benign Het
Snta1 A T 2: 154,245,809 (GRCm39) M104K probably damaging Het
Sox2 T A 3: 34,704,746 (GRCm39) M61K probably damaging Het
Spata31e3 T C 13: 50,401,588 (GRCm39) H246R possibly damaging Het
Spats2 T A 15: 99,097,128 (GRCm39) D293E probably damaging Het
Spta1 A G 1: 174,050,174 (GRCm39) D1738G probably damaging Het
Sqstm1 A T 11: 50,098,684 (GRCm39) Y89N probably damaging Het
Stat4 T A 1: 52,050,957 (GRCm39) N5K probably benign Het
Syne4 A G 7: 30,017,418 (GRCm39) H294R probably damaging Het
Tbc1d7 A C 13: 43,322,310 (GRCm39) F45V probably damaging Het
Tekt3 T A 11: 62,974,684 (GRCm39) N334K probably damaging Het
Tgfbr3l A G 8: 4,300,620 (GRCm39) H266R possibly damaging Het
Trav7-6 A G 14: 53,954,604 (GRCm39) K65E probably benign Het
Trip11 A G 12: 101,851,377 (GRCm39) S896P probably damaging Het
Tubb6 T C 18: 67,526,046 (GRCm39) V66A possibly damaging Het
Tyk2 A G 9: 21,016,403 (GRCm39) L1189P probably damaging Het
Usp34 T G 11: 23,320,302 (GRCm39) V911G Het
Xrn1 A G 9: 95,920,981 (GRCm39) E1364G probably benign Het
Ywhag T C 5: 135,940,217 (GRCm39) M126V probably damaging Het
Zfp383 C T 7: 29,614,717 (GRCm39) P324L probably damaging 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
R1750:Wdr53 UTSW 16 32,070,935 (GRCm39) missense probably damaging 1.00
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
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'- AGTTGAGCGGTGTGTCTAGAAC -3'
(R):5'- GGCAGAATCTTTGCATGCCC -3'

Sequencing Primer
(F):5'- GAACACTGTGTGACTGTAATTTCACC -3'
(R):5'- TGGAGTTTCCACCCTGCGTG -3'
Posted On 2021-10-11