Incidental Mutation 'R4777:Wdr33'
ID 368063
Institutional Source Beutler Lab
Gene Symbol Wdr33
Ensembl Gene ENSMUSG00000024400
Gene Name WD repeat domain 33
Synonyms 8430413N20Rik, 2310011G05Rik, 2810021O11Rik, 1110001N06Rik, WDC146
MMRRC Submission 041992-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R4777 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 31937143-32040450 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32014301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 388 (H388Y)
Ref Sequence ENSEMBL: ENSMUSP00000025264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025264]
AlphaFold Q8K4P0
Predicted Effect probably damaging
Transcript: ENSMUST00000025264
AA Change: H388Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025264
Gene: ENSMUSG00000024400
AA Change: H388Y

DomainStartEndE-ValueType
WD40 107 147 2.15e-1 SMART
WD40 150 189 5.77e-5 SMART
WD40 191 230 1.89e-9 SMART
WD40 233 274 2.59e-7 SMART
WD40 277 316 2.73e-6 SMART
WD40 320 360 1.71e-7 SMART
WD40 364 403 1.52e-4 SMART
low complexity region 481 499 N/A INTRINSIC
coiled coil region 531 559 N/A INTRINSIC
low complexity region 573 587 N/A INTRINSIC
low complexity region 608 624 N/A INTRINSIC
low complexity region 628 668 N/A INTRINSIC
low complexity region 679 722 N/A INTRINSIC
low complexity region 725 761 N/A INTRINSIC
internal_repeat_1 778 803 3.47e-9 PROSPERO
low complexity region 806 818 N/A INTRINSIC
internal_repeat_1 821 845 3.47e-9 PROSPERO
low complexity region 848 881 N/A INTRINSIC
low complexity region 920 935 N/A INTRINSIC
low complexity region 938 951 N/A INTRINSIC
low complexity region 1000 1018 N/A INTRINSIC
low complexity region 1041 1049 N/A INTRINSIC
low complexity region 1057 1100 N/A INTRINSIC
low complexity region 1137 1154 N/A INTRINSIC
low complexity region 1190 1207 N/A INTRINSIC
low complexity region 1251 1262 N/A INTRINSIC
low complexity region 1287 1330 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A C 3: 137,771,503 (GRCm39) S231R probably benign Het
5730455P16Rik A T 11: 80,265,041 (GRCm39) I137N probably damaging Het
Abhd10 G A 16: 45,557,279 (GRCm39) Q176* probably null Het
Acer3 T C 7: 97,910,804 (GRCm39) Y86C probably damaging Het
Ankrd36 T C 11: 5,557,120 (GRCm39) V356A probably benign Het
Atp1a1 A G 3: 101,502,312 (GRCm39) probably null Het
Bmp8b G A 4: 123,015,793 (GRCm39) R260Q possibly damaging Het
C2cd3 T A 7: 100,065,539 (GRCm39) V775D possibly damaging Het
Cacna1b T A 2: 24,622,337 (GRCm39) I216F probably damaging Het
Capn5 T A 7: 97,780,925 (GRCm39) N284I probably damaging Het
Cbr1 C A 16: 93,406,942 (GRCm39) D219E probably benign Het
Cdca2 C T 14: 67,950,589 (GRCm39) R114Q probably damaging Het
Cdh20 G A 1: 109,922,055 (GRCm39) W49* probably null Het
Cep152 C T 2: 125,406,015 (GRCm39) V1506I probably benign Het
Cfap97 C T 8: 46,648,334 (GRCm39) Q537* probably null Het
Cpsf2 T A 12: 101,963,091 (GRCm39) V385E probably damaging Het
Dse A G 10: 34,029,584 (GRCm39) V502A possibly damaging Het
Fam171a1 T A 2: 3,224,550 (GRCm39) F300L probably benign Het
Fnip1 T G 11: 54,391,382 (GRCm39) N438K probably damaging Het
Fstl5 C T 3: 76,500,807 (GRCm39) T412M probably damaging Het
Gm11938 T A 11: 99,494,059 (GRCm39) Q12L unknown Het
Hcls1 G T 16: 36,775,678 (GRCm39) A171S probably damaging Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,269 (GRCm39) probably benign Het
Hydin G T 8: 111,137,096 (GRCm39) C633F probably damaging Het
Ica1 A T 6: 8,644,145 (GRCm39) D381E probably benign Het
Ift74 A G 4: 94,541,234 (GRCm39) K220E probably benign Het
Igfn1 A T 1: 135,882,600 (GRCm39) D2748E probably benign Het
Il16 A C 7: 83,300,104 (GRCm39) D396E probably benign Het
Impdh1 G T 6: 29,205,201 (GRCm39) A200E possibly damaging Het
Itga4 C T 2: 79,144,054 (GRCm39) T647I possibly damaging Het
Jpt1 A T 11: 115,391,497 (GRCm39) M104K probably benign Het
Krt73 C A 15: 101,702,436 (GRCm39) A476S probably benign Het
Lama3 T C 18: 12,546,828 (GRCm39) Y363H probably damaging Het
Lgr4 C T 2: 109,827,027 (GRCm39) P177L probably damaging Het
Lrp2 T C 2: 69,312,608 (GRCm39) D2560G probably damaging Het
Ly6m T C 15: 74,752,532 (GRCm39) N48S probably benign Het
Macf1 A T 4: 123,270,295 (GRCm39) F6617I probably damaging Het
Mcf2l T A 8: 13,068,051 (GRCm39) probably null Het
Mcub T A 3: 129,763,600 (GRCm39) Q42L probably damaging Het
Mfsd9 C T 1: 40,820,700 (GRCm39) V150I possibly damaging Het
Myo15b T C 11: 115,770,478 (GRCm39) V96A probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10aa3 T G 1: 173,878,244 (GRCm39) Y102D probably damaging Het
Or10g6 T C 9: 39,933,994 (GRCm39) F102L possibly damaging Het
Or1r1 A G 11: 73,875,221 (GRCm39) V71A probably benign Het
Pgap6 T C 17: 26,340,515 (GRCm39) V633A probably damaging Het
Pinlyp T A 7: 24,241,568 (GRCm39) I153F possibly damaging Het
Plk2 A C 13: 110,534,307 (GRCm39) M296L probably benign Het
Plvap T C 8: 71,960,630 (GRCm39) Y262C probably benign Het
Ppfia3 C A 7: 44,990,581 (GRCm39) G1066V probably damaging Het
Prokr1 A G 6: 87,565,842 (GRCm39) M1T probably null Het
Ptgs2 G T 1: 149,981,138 (GRCm39) A474S probably benign Het
Pth2r A G 1: 65,427,676 (GRCm39) T450A possibly damaging Het
Ranbp6 A T 19: 29,789,037 (GRCm39) F438L probably damaging Het
Ripor1 A T 8: 106,341,622 (GRCm39) Q102L probably damaging Het
Rprd2 C T 3: 95,694,686 (GRCm39) V116I probably benign Het
Sacs T C 14: 61,449,258 (GRCm39) V3768A probably damaging Het
Scn8a T C 15: 100,913,832 (GRCm39) Y1075H probably damaging Het
Senp3 C T 11: 69,569,063 (GRCm39) G366D probably damaging Het
Smim1 T C 4: 154,108,107 (GRCm39) probably benign Het
Sptan1 A G 2: 29,886,447 (GRCm39) I817V probably damaging Het
Stag3 A T 5: 138,307,461 (GRCm39) probably benign Het
Stk17b A T 1: 53,810,867 (GRCm39) H79Q probably damaging Het
Svil A G 18: 5,088,813 (GRCm39) K1296E probably damaging Het
Tmem117 T A 15: 94,992,331 (GRCm39) Y330* probably null Het
Tnxb G T 17: 34,890,917 (GRCm39) R420L probably damaging Het
Trim9 C A 12: 70,393,845 (GRCm39) C33F probably damaging Het
Usp29 A C 7: 6,965,747 (GRCm39) Y530S probably benign Het
Vps26b T C 9: 26,921,752 (GRCm39) T258A possibly damaging Het
Vrtn C A 12: 84,695,600 (GRCm39) H117N probably damaging Het
Zfp451 A T 1: 33,821,186 (GRCm39) V222D possibly damaging Het
Zfp953 A G 13: 67,491,193 (GRCm39) I253T probably benign Het
Zfy2 A G Y: 2,116,194 (GRCm39) V282A probably benign Het
Zscan29 A T 2: 120,999,805 (GRCm39) V132D probably damaging Het
Zswim4 G T 8: 84,963,586 (GRCm39) D16E probably benign Het
Other mutations in Wdr33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Wdr33 APN 18 32,011,169 (GRCm39) missense probably damaging 1.00
IGL01099:Wdr33 APN 18 32,039,842 (GRCm39) unclassified probably benign
IGL01628:Wdr33 APN 18 32,021,363 (GRCm39) missense unknown
IGL03296:Wdr33 APN 18 31,960,444 (GRCm39) missense probably benign 0.03
R0103:Wdr33 UTSW 18 31,966,388 (GRCm39) missense probably damaging 1.00
R0279:Wdr33 UTSW 18 32,021,377 (GRCm39) missense unknown
R0563:Wdr33 UTSW 18 32,019,792 (GRCm39) missense possibly damaging 0.94
R0730:Wdr33 UTSW 18 31,968,429 (GRCm39) splice site probably benign
R1077:Wdr33 UTSW 18 31,968,514 (GRCm39) missense probably benign 0.03
R1377:Wdr33 UTSW 18 32,021,694 (GRCm39) missense unknown
R1712:Wdr33 UTSW 18 32,029,684 (GRCm39) missense unknown
R1855:Wdr33 UTSW 18 32,039,909 (GRCm39) unclassified probably benign
R2013:Wdr33 UTSW 18 32,022,029 (GRCm39) missense unknown
R2014:Wdr33 UTSW 18 31,966,652 (GRCm39) missense probably damaging 1.00
R4497:Wdr33 UTSW 18 32,026,132 (GRCm39) missense unknown
R4727:Wdr33 UTSW 18 32,021,500 (GRCm39) missense unknown
R4739:Wdr33 UTSW 18 32,019,139 (GRCm39) missense probably benign 0.17
R4907:Wdr33 UTSW 18 32,040,046 (GRCm39) makesense probably null
R5811:Wdr33 UTSW 18 32,035,673 (GRCm39) missense unknown
R6053:Wdr33 UTSW 18 32,011,116 (GRCm39) missense possibly damaging 0.93
R6454:Wdr33 UTSW 18 31,963,028 (GRCm39) missense possibly damaging 0.47
R7112:Wdr33 UTSW 18 32,026,056 (GRCm39) missense unknown
R7369:Wdr33 UTSW 18 32,019,719 (GRCm39) missense probably benign 0.00
R7519:Wdr33 UTSW 18 32,029,823 (GRCm39) missense unknown
R8278:Wdr33 UTSW 18 31,960,405 (GRCm39) missense possibly damaging 0.59
R8558:Wdr33 UTSW 18 31,962,947 (GRCm39) missense probably benign 0.10
R8952:Wdr33 UTSW 18 31,960,393 (GRCm39) missense possibly damaging 0.61
R8994:Wdr33 UTSW 18 31,960,459 (GRCm39) missense probably benign 0.02
R9586:Wdr33 UTSW 18 31,966,669 (GRCm39) missense probably damaging 1.00
R9775:Wdr33 UTSW 18 32,037,406 (GRCm39) missense unknown
RF014:Wdr33 UTSW 18 32,014,326 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTCAAAGTAAACGATGCTGAGAG -3'
(R):5'- AGCCCATTTCTTCGAATGCC -3'

Sequencing Primer
(F):5'- ACGATGCTGAGAGTTCTTTATTAAG -3'
(R):5'- ATTTCTTCGAATGCCACCCCAC -3'
Posted On 2015-12-29