Incidental Mutation 'IGL01923:Wdr11'
ID180181
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr11
Ensembl Gene ENSMUSG00000042055
Gene NameWD repeat domain 11
SynonymsBrwd2, Wdr11
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.141) question?
Stock #IGL01923
Quality Score
Status
Chromosome7
Chromosomal Location129591863-129635738 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to T at 129632322 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000081567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084519]
Predicted Effect probably null
Transcript: ENSMUST00000084519
SMART Domains Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055

DomainStartEndE-ValueType
WD40 50 99 2e-1 SMART
WD40 102 145 2.84e2 SMART
low complexity region 189 200 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
low complexity region 454 465 N/A INTRINSIC
WD40 552 595 4.42e1 SMART
WD40 696 735 1.66e0 SMART
WD40 737 777 1.43e1 SMART
WD40 780 821 1.38e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136560
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140877
Predicted Effect probably benign
Transcript: ENSMUST00000148752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149541
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 located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T A 5: 129,178,079 S597T possibly damaging Het
Btnl9 T C 11: 49,180,582 D138G probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cep135 T A 5: 76,640,982 *1141K probably null Het
Ctnnd2 A T 15: 30,480,828 Q74L probably damaging Het
Cyp2j13 A T 4: 96,062,057 W236R probably benign Het
Dixdc1 A T 9: 50,695,503 I271N possibly damaging Het
Dlec1 A G 9: 119,128,114 probably null Het
Dnah9 C A 11: 66,125,235 probably benign Het
Dopey1 A T 9: 86,522,867 Y275F probably damaging Het
Dysf T A 6: 84,210,829 *2105R probably null Het
Eif4a1 A T 11: 69,672,303 D25E possibly damaging Het
Fras1 T A 5: 96,735,280 I2557N probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm12253 G T 11: 58,434,901 probably null Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hsd17b7 A G 1: 169,959,466 V254A probably benign Het
Kif21a T A 15: 90,956,430 D143V probably damaging Het
Lrrc9 T C 12: 72,510,412 V1417A possibly damaging Het
Macf1 C T 4: 123,380,444 A4926T possibly damaging Het
Mef2a A C 7: 67,264,872 S91R probably damaging Het
Myh7 A G 14: 54,985,459 probably null Het
Olfr808 T A 10: 129,768,104 F203I probably benign Het
Pbx2 A G 17: 34,594,050 D160G probably damaging Het
Pcdhb17 T C 18: 37,486,737 F527L probably benign Het
Ppm1b T C 17: 84,994,061 L123P probably damaging Het
Ppm1k T A 6: 57,522,828 K154N probably benign Het
Ppp2r1a T G 17: 20,965,469 *590G probably null Het
Raver1 A T 9: 21,079,240 L589Q probably damaging Het
Rrbp1 A G 2: 143,990,161 S29P probably damaging Het
Senp5 A G 16: 31,965,816 Y673H probably damaging Het
Serpina3j T A 12: 104,315,214 probably benign Het
Serpinc1 A G 1: 160,989,546 E70G probably damaging Het
Stag3 A G 5: 138,289,230 Q139R probably damaging Het
Sva T A 6: 42,042,170 H91Q probably benign Het
Tmem263 C T 10: 85,114,431 Q29* probably null Het
Tpp1 T C 7: 105,751,650 N57D probably benign Het
Vmn2r27 T A 6: 124,200,525 I507L probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp236 C T 18: 82,682,219 E42K probably damaging Het
Other mutations in Wdr11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Wdr11 APN 7 129593093 splice site probably null
IGL01121:Wdr11 APN 7 129628022 missense probably benign 0.02
IGL01385:Wdr11 APN 7 129607913 missense probably benign
IGL02274:Wdr11 APN 7 129631172 critical splice acceptor site probably null
IGL02894:Wdr11 APN 7 129631166 splice site probably benign
IGL02927:Wdr11 APN 7 129607098 critical splice donor site probably null
IGL03008:Wdr11 APN 7 129606991 unclassified probably benign
IGL03026:Wdr11 APN 7 129624336 missense probably damaging 1.00
IGL03354:Wdr11 APN 7 129625302 missense probably benign 0.01
IGL03379:Wdr11 APN 7 129599123 missense probably damaging 1.00
propeller UTSW 7 129606675 missense possibly damaging 0.91
R0003:Wdr11 UTSW 7 129599061 missense probably damaging 1.00
R0928:Wdr11 UTSW 7 129606653 missense probably damaging 1.00
R1170:Wdr11 UTSW 7 129607107 unclassified probably benign
R1645:Wdr11 UTSW 7 129613889 missense probably benign 0.29
R1908:Wdr11 UTSW 7 129605230 missense possibly damaging 0.60
R1938:Wdr11 UTSW 7 129606607 missense probably benign 0.08
R2122:Wdr11 UTSW 7 129631766 missense probably damaging 1.00
R2148:Wdr11 UTSW 7 129629083 intron probably null
R2240:Wdr11 UTSW 7 129605694 critical splice acceptor site probably null
R2362:Wdr11 UTSW 7 129634836 missense probably benign 0.05
R3774:Wdr11 UTSW 7 129631693 splice site probably null
R4297:Wdr11 UTSW 7 129625186 missense probably benign 0.18
R4546:Wdr11 UTSW 7 129629005 missense probably damaging 1.00
R4787:Wdr11 UTSW 7 129608934 splice site probably benign
R4789:Wdr11 UTSW 7 129618670 nonsense probably null
R4807:Wdr11 UTSW 7 129628022 missense probably benign 0.02
R4855:Wdr11 UTSW 7 129600434 splice site probably null
R4898:Wdr11 UTSW 7 129633721 missense probably benign
R5022:Wdr11 UTSW 7 129624711 missense probably benign 0.10
R5326:Wdr11 UTSW 7 129625249 missense probably damaging 1.00
R5398:Wdr11 UTSW 7 129631232 missense probably damaging 1.00
R6120:Wdr11 UTSW 7 129624791 missense probably damaging 0.99
R6136:Wdr11 UTSW 7 129618703 missense possibly damaging 0.86
R6280:Wdr11 UTSW 7 129599106 nonsense probably null
R6352:Wdr11 UTSW 7 129606675 missense possibly damaging 0.91
R6432:Wdr11 UTSW 7 129606518 missense possibly damaging 0.83
R6766:Wdr11 UTSW 7 129624312 missense probably benign 0.02
R6911:Wdr11 UTSW 7 129607095 missense probably benign 0.28
R7135:Wdr11 UTSW 7 129628106 missense possibly damaging 0.76
R7151:Wdr11 UTSW 7 129606652 missense probably damaging 1.00
R7463:Wdr11 UTSW 7 129607086 missense probably damaging 0.99
R7503:Wdr11 UTSW 7 129603110 missense probably benign
Posted On2014-05-07