Incidental Mutation 'R8278:Wdr33'
ID 638095
Institutional Source Beutler Lab
Gene Symbol Wdr33
Ensembl Gene ENSMUSG00000024400
Gene Name WD repeat domain 33
Synonyms 8430413N20Rik, 2310011G05Rik, 2810021O11Rik, 1110001N06Rik, WDC146
MMRRC Submission 067701-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R8278 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 31937143-32040450 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31960405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 23 (R23Q)
Ref Sequence ENSEMBL: ENSMUSP00000080936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025264] [ENSMUST00000082319]
AlphaFold Q8K4P0
Predicted Effect probably benign
Transcript: ENSMUST00000025264
AA Change: R23Q

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025264
Gene: ENSMUSG00000024400
AA Change: R23Q

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000082319
AA Change: R23Q

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080936
Gene: ENSMUSG00000024400
AA Change: R23Q

DomainStartEndE-ValueType
WD40 107 147 2.15e-1 SMART
WD40 150 189 5.77e-5 SMART
WD40 191 230 1.89e-9 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,668,040 (GRCm39) Q477L probably benign Het
Adcy10 A T 1: 165,330,857 (GRCm39) D40V probably damaging Het
Cab39l T C 14: 59,776,562 (GRCm39) Y248H probably damaging Het
Casr G T 16: 36,336,011 (GRCm39) D99E probably damaging Het
Cdh16 T C 8: 105,345,107 (GRCm39) E364G probably benign Het
Cep104 C T 4: 154,068,122 (GRCm39) T189I possibly damaging Het
Cfap418 T A 4: 10,882,474 (GRCm39) probably null Het
Chd7 T A 4: 8,862,485 (GRCm39) probably null Het
Chit1 G A 1: 134,078,332 (GRCm39) R380Q probably benign Het
Cpne2 A G 8: 95,281,316 (GRCm39) K174R probably damaging Het
Dchs2 T A 3: 83,178,310 (GRCm39) I1121N probably damaging Het
Fgf6 A T 6: 126,992,781 (GRCm39) Y78F probably damaging Het
H2-T10 A T 17: 36,429,832 (GRCm39) N320K probably benign Het
Heatr3 A T 8: 88,883,361 (GRCm39) N398I possibly damaging Het
Hrh4 T C 18: 13,140,284 (GRCm39) S60P probably damaging Het
Ikbip A G 10: 90,932,190 (GRCm39) H278R probably benign Het
Jmy A T 13: 93,601,224 (GRCm39) I394N probably damaging Het
Klhl8 T C 5: 104,022,107 (GRCm39) E314G probably benign Het
Lhx9 A T 1: 138,766,324 (GRCm39) C164S probably damaging Het
Loxl3 G T 6: 83,025,697 (GRCm39) G352C probably damaging Het
Lrrk1 A G 7: 65,928,432 (GRCm39) F1232S probably benign Het
Mpnd A G 17: 56,319,469 (GRCm39) T311A probably benign Het
Mpp7 A T 18: 7,444,025 (GRCm39) D132E probably benign Het
Nck2 T C 1: 43,593,740 (GRCm39) S316P probably damaging Het
Nckap5 T C 1: 125,955,509 (GRCm39) S348G probably damaging Het
Nyap1 C T 5: 137,730,077 (GRCm39) R790H probably damaging Het
Or5b124 C T 19: 13,610,958 (GRCm39) T161I possibly damaging Het
Pdcd11 G A 19: 47,094,736 (GRCm39) V507I probably damaging Het
Pdzd2 T C 15: 12,375,995 (GRCm39) H1380R probably benign Het
Pgap1 C T 1: 54,529,430 (GRCm39) V763I probably benign Het
Pnma8b G T 7: 16,680,263 (GRCm39) V416L probably damaging Het
Prkn A T 17: 12,269,609 (GRCm39) N421Y probably benign Het
Prpf4 T C 4: 62,333,493 (GRCm39) probably null Het
Psmb5 C T 14: 54,855,342 (GRCm39) G36D probably benign Het
Ptprq A G 10: 107,522,239 (GRCm39) S571P possibly damaging Het
Rap1gap A C 4: 137,444,748 (GRCm39) S254R probably damaging Het
Rufy2 A T 10: 62,843,472 (GRCm39) D492V probably benign Het
Ryr2 C A 13: 11,610,392 (GRCm39) E4145* probably null Het
Sgsm1 A G 5: 113,407,958 (GRCm39) F898L probably damaging Het
Slc26a9 C A 1: 131,689,514 (GRCm39) A487D possibly damaging Het
Slc6a15 T C 10: 103,229,890 (GRCm39) probably null Het
Smad9 A T 3: 54,696,687 (GRCm39) T251S probably benign Het
Socs3 A T 11: 117,858,478 (GRCm39) C193* probably null Het
Sox6 T A 7: 115,076,199 (GRCm39) D813V probably damaging Het
Taf2 A T 15: 54,929,361 (GRCm39) L65* probably null Het
Taf6 G A 5: 138,178,097 (GRCm39) A468V probably benign Het
Tmem71 T C 15: 66,426,961 (GRCm39) D78G probably damaging Het
Tob2 T C 15: 81,735,288 (GRCm39) N227S probably benign Het
Trim34a C A 7: 103,898,623 (GRCm39) Q180K probably damaging Het
Ugt1a9 T C 1: 87,999,378 (GRCm39) L276P possibly damaging Het
Wnt7b T G 15: 85,427,887 (GRCm39) N189H Het
Zfp609 G A 9: 65,604,804 (GRCm39) A1308V possibly 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
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
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'- CTGAAGATGTTTTCAGGTTAGAAAATG -3'
(R):5'- TCAACATGCTAATCCATCCCACTAAT -3'

Sequencing Primer
(F):5'- GTTTTCTAGCCATAGTTGTCAAGTC -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
Posted On 2020-07-28