Incidental Mutation 'IGL03296:Wdr33'
ID416075
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr33
Ensembl Gene ENSMUSG00000024400
Gene NameWD repeat domain 33
Synonyms2810021O11Rik, 1110001N06Rik, 8430413N20Rik, 2310011G05Rik, WDC146
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.958) question?
Stock #IGL03296
Quality Score
Status
Chromosome18
Chromosomal Location31804057-31908987 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 31827391 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 36 (Q36L)
Ref Sequence ENSEMBL: ENSMUSP00000025264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025264] [ENSMUST00000082319]
Predicted Effect probably benign
Transcript: ENSMUST00000025264
AA Change: Q36L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000025264
Gene: ENSMUSG00000024400
AA Change: Q36L

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 probably benign
Transcript: ENSMUST00000082319
AA Change: Q36L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080936
Gene: ENSMUSG00000024400
AA Change: Q36L

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 T C 17: 43,321,153 probably benign Het
Arhgef26 A G 3: 62,423,505 T547A probably damaging Het
Cdc14a T A 3: 116,297,158 H375L probably benign Het
Ddx43 T C 9: 78,399,098 probably null Het
Dennd6a T C 14: 26,616,960 probably null Het
Dock4 A T 12: 40,733,257 E730V possibly damaging Het
Gpr55 A G 1: 85,941,031 L276S probably damaging Het
Grid1 T C 14: 35,580,567 F930L possibly damaging Het
Inf2 C T 12: 112,604,208 Q394* probably null Het
Ints11 T C 4: 155,885,323 probably null Het
Kcnd2 T C 6: 21,714,209 V397A probably damaging Het
Lmntd1 A G 6: 145,413,477 F316L probably benign Het
Loxl4 A T 19: 42,598,823 probably benign Het
Lrrc37a C T 11: 103,497,673 E2309K unknown Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mindy4 T C 6: 55,297,753 probably null Het
Mybpc2 A T 7: 44,506,884 I835N probably damaging Het
Myo5a T C 9: 75,116,202 I15T probably damaging Het
Nfkb2 A T 19: 46,309,928 D557V probably damaging Het
Olfr743 A T 14: 50,533,945 I178L possibly damaging Het
Pdk3 T C X: 93,831,897 Y19C probably damaging Het
Pdpr G T 8: 111,114,798 V221F probably damaging Het
Rab6a T C 7: 100,634,724 Y128H probably benign Het
Rars A T 11: 35,816,696 Y429* probably null Het
Rsl24d1 T C 9: 73,117,947 probably null Het
Slc7a9 T C 7: 35,452,427 F49S probably damaging Het
St14 C T 9: 31,108,712 E34K probably damaging Het
Tcp10b A G 17: 13,073,556 T289A probably damaging Het
Tenm2 T C 11: 36,052,025 probably null Het
Tshz3 A T 7: 36,771,336 T917S probably damaging Het
Vrtn T A 12: 84,648,848 I124N probably damaging Het
Vwa8 A G 14: 79,183,100 E1747G probably damaging Het
Xpo5 C T 17: 46,221,394 R452* probably null Het
Zdhhc8 A T 16: 18,226,723 L311Q possibly damaging Het
Other mutations in Wdr33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Wdr33 APN 18 31878116 missense probably damaging 1.00
IGL01099:Wdr33 APN 18 31906789 unclassified probably benign
IGL01628:Wdr33 APN 18 31888310 missense unknown
R0103:Wdr33 UTSW 18 31833335 missense probably damaging 1.00
R0279:Wdr33 UTSW 18 31888324 missense unknown
R0563:Wdr33 UTSW 18 31886739 missense possibly damaging 0.94
R0730:Wdr33 UTSW 18 31835376 splice site probably benign
R1077:Wdr33 UTSW 18 31835461 missense probably benign 0.03
R1377:Wdr33 UTSW 18 31888641 missense unknown
R1712:Wdr33 UTSW 18 31896631 missense unknown
R1855:Wdr33 UTSW 18 31906856 unclassified probably benign
R2013:Wdr33 UTSW 18 31888976 missense unknown
R2014:Wdr33 UTSW 18 31833599 missense probably damaging 1.00
R4497:Wdr33 UTSW 18 31893079 missense unknown
R4727:Wdr33 UTSW 18 31888447 missense unknown
R4739:Wdr33 UTSW 18 31886086 missense probably benign 0.17
R4777:Wdr33 UTSW 18 31881248 missense probably damaging 1.00
R4907:Wdr33 UTSW 18 31906993 makesense probably null
R5811:Wdr33 UTSW 18 31902620 missense unknown
R6053:Wdr33 UTSW 18 31878063 missense possibly damaging 0.93
R6454:Wdr33 UTSW 18 31829975 missense possibly damaging 0.47
R7112:Wdr33 UTSW 18 31893003 missense unknown
R7369:Wdr33 UTSW 18 31886666 missense probably benign 0.00
R7519:Wdr33 UTSW 18 31896770 missense unknown
RF014:Wdr33 UTSW 18 31881273 missense probably damaging 1.00
Posted On2016-08-02