Incidental Mutation 'IGL01099:Wdr33'
ID53171
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: 0.956) question?
Stock #IGL01099
Quality Score
Status
Chromosome18
Chromosomal Location31804057-31908987 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to A at 31906789 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025264] [ENSMUST00000054984]
Predicted Effect unknown
Transcript: ENSMUST00000025264
AA Change: Q1263K
SMART Domains Protein: ENSMUSP00000025264
Gene: ENSMUSG00000024400
AA Change: Q1263K

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: ENSMUST00000054984
SMART Domains Protein: ENSMUSP00000100656
Gene: ENSMUSG00000044982

DomainStartEndE-ValueType
low complexity region 20 39 N/A INTRINSIC
Pfam:Got1 82 199 1.6e-26 PFAM
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik A T 13: 105,109,360 H143L probably benign Het
Abca8a G A 11: 110,074,205 probably benign Het
Adam28 A G 14: 68,637,329 probably null Het
Adcy10 A G 1: 165,539,842 I560M probably benign Het
Alpl G A 4: 137,743,313 probably benign Het
Ank1 G A 8: 23,108,249 G753D probably damaging Het
Arhgef28 A T 13: 97,953,972 probably benign Het
Bmp7 A T 2: 172,875,262 C329S probably damaging Het
Capn13 T C 17: 73,351,509 D188G probably damaging Het
Car10 G A 11: 93,578,690 E164K possibly damaging Het
Cfhr1 T A 1: 139,547,759 probably benign Het
Col11a1 C T 3: 114,112,041 R562* probably null Het
Colec12 C T 18: 9,848,826 R335C probably damaging Het
Cyb561d2 C T 9: 107,540,289 probably null Het
D430042O09Rik T A 7: 125,865,320 H1286Q probably damaging Het
Epb41l3 A G 17: 69,210,193 D72G possibly damaging Het
Etl4 T C 2: 20,807,111 L1335P probably benign Het
F5 T G 1: 164,194,334 N1459K probably damaging Het
Fam161a T C 11: 23,015,894 probably benign Het
Flnc G A 6: 29,433,618 V54M probably damaging Het
Fndc3b T C 3: 27,463,817 I607V probably benign Het
Fscb A G 12: 64,472,101 S864P unknown Het
Glod4 T A 11: 76,239,550 K36* probably null Het
Gm6619 G A 6: 131,490,430 R86Q possibly damaging Het
Gm7052 T C 17: 22,039,725 probably benign Het
Gyg A T 3: 20,151,047 M119K probably benign Het
Ifit2 A T 19: 34,573,302 I81F probably damaging Het
Insr T C 8: 3,258,682 Y118C probably damaging Het
Kcnh3 T C 15: 99,239,736 S771P probably benign Het
Kndc1 C A 7: 139,920,784 H688Q probably damaging Het
Mybpc2 A G 7: 44,516,167 C330R probably damaging Het
Naa50 A T 16: 44,156,469 N23I probably damaging Het
Olfr544 T A 7: 102,484,478 D214V probably damaging Het
Olfr76 A G 19: 12,119,876 S279P probably damaging Het
Olfr894 T C 9: 38,219,743 S307P probably benign Het
Olfr912 T C 9: 38,582,077 S267P probably benign Het
Pfkp A T 13: 6,603,390 probably benign Het
Phlda2 G A 7: 143,502,139 probably null Het
Plxnd1 C A 6: 115,969,945 V823L probably benign Het
Ppil2 T A 16: 17,091,212 M368L probably damaging Het
Prpf40a T A 2: 53,141,835 H794L probably benign Het
Ripor2 A T 13: 24,701,207 H436L probably benign Het
Rnf138 T A 18: 21,020,913 C159S possibly damaging Het
Scn7a A T 2: 66,684,238 V1064D probably damaging Het
Slc12a2 T A 18: 57,906,020 C557* probably null Het
Slc1a6 T C 10: 78,788,997 S79P possibly damaging Het
Snapin G A 3: 90,490,602 probably benign Het
Tdp1 A T 12: 99,915,445 probably benign Het
Tigar G T 6: 127,088,145 A180E probably benign Het
Trav6-2 A T 14: 52,667,665 T48S probably benign Het
Ttn A G 2: 76,728,432 Y29702H probably damaging Het
Ush1c A G 7: 46,205,262 S689P probably damaging Het
Vmn1r40 A T 6: 89,714,596 I132F probably damaging Het
Vmn1r85 T A 7: 13,084,534 K228* probably null Het
Ybx2 A T 11: 69,940,730 Q136L probably damaging Het
Other mutations in Wdr33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Wdr33 APN 18 31878116 missense probably damaging 1.00
IGL01628:Wdr33 APN 18 31888310 missense unknown
IGL03296:Wdr33 APN 18 31827391 missense probably benign 0.03
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 On2013-06-21