Incidental Mutation 'R5811:Wdr33'
ID 447537
Institutional Source Beutler Lab
Gene Symbol Wdr33
Ensembl Gene ENSMUSG00000024400
Gene Name WD repeat domain 33
Synonyms 8430413N20Rik, 2310011G05Rik, 2810021O11Rik, 1110001N06Rik, WDC146
MMRRC Submission 043213-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R5811 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 31937143-32040450 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32035673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1164 (F1164L)
Ref Sequence ENSEMBL: ENSMUSP00000025264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025264]
AlphaFold Q8K4P0
Predicted Effect unknown
Transcript: ENSMUST00000025264
AA Change: F1164L
SMART Domains Protein: ENSMUSP00000025264
Gene: ENSMUSG00000024400
AA Change: F1164L

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl1 A T 17: 34,604,503 (GRCm39) K428M probably damaging Het
Chid1 G A 7: 141,110,166 (GRCm39) T53M probably damaging Het
Clnk A G 5: 38,870,490 (GRCm39) V356A probably damaging Het
Cryba4 C T 5: 112,398,937 (GRCm39) V36I probably benign Het
Dct A G 14: 118,250,600 (GRCm39) V466A probably benign Het
Dnmt3l A G 10: 77,887,929 (GRCm39) D146G possibly damaging Het
Epas1 A G 17: 87,131,203 (GRCm39) N328D probably damaging Het
Fat4 C T 3: 38,945,936 (GRCm39) R1610W probably damaging Het
Filip1l T C 16: 57,390,657 (GRCm39) V415A probably damaging Het
Garnl3 A G 2: 32,896,911 (GRCm39) L576P probably damaging Het
Gjd3 A T 11: 98,873,226 (GRCm39) V206E possibly damaging Het
Gpr135 A T 12: 72,116,641 (GRCm39) D375E possibly damaging Het
Gsdme T A 6: 50,222,925 (GRCm39) Q130L probably benign Het
Hcls1 A G 16: 36,777,702 (GRCm39) M274V probably null Het
Kcnn4 T C 7: 24,077,030 (GRCm39) V193A probably damaging Het
Kctd16 T C 18: 40,391,505 (GRCm39) V31A probably damaging Het
Lamc2 C T 1: 153,041,999 (GRCm39) R45Q possibly damaging Het
Lrrc66 T A 5: 73,772,860 (GRCm39) I203F possibly damaging Het
Mark4 T C 7: 19,182,564 (GRCm39) D91G probably damaging Het
Mcm6 A T 1: 128,263,465 (GRCm39) probably benign Het
Mecom C T 3: 30,015,149 (GRCm39) S602N probably benign Het
Muc5ac T C 7: 141,352,721 (GRCm39) V736A possibly damaging Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Or2h2c C A 17: 37,422,649 (GRCm39) C75F probably benign Het
Pdia5 A T 16: 35,269,790 (GRCm39) M173K possibly damaging Het
Pih1d2 T C 9: 50,532,374 (GRCm39) L144P probably damaging Het
Plch2 C T 4: 155,077,024 (GRCm39) E577K possibly damaging Het
Samd4b T C 7: 28,107,445 (GRCm39) S275G probably damaging Het
Sap130 T C 18: 31,822,495 (GRCm39) V668A probably benign Het
Sema3c T A 5: 17,880,188 (GRCm39) probably null Het
Slc9a8 C T 2: 167,313,307 (GRCm39) R390* probably null Het
Vmn2r89 A T 14: 51,693,565 (GRCm39) N305I probably benign Het
Zfp873 T A 10: 81,896,567 (GRCm39) C470S probably damaging 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
R4777:Wdr33 UTSW 18 32,014,301 (GRCm39) missense probably damaging 1.00
R4907:Wdr33 UTSW 18 32,040,046 (GRCm39) makesense probably null
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'- TGATGACTTTGGTCCAGAAGAG -3'
(R):5'- CTGAAGTAGATAGACAGGAAGCC -3'

Sequencing Primer
(F):5'- TTCTGATGAAGCAGCCCGAG -3'
(R):5'- GCCAACCAGCCTCCATGG -3'
Posted On 2016-12-15