Incidental Mutation 'IGL02742:Wdr5'
ID305957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr5
Ensembl Gene ENSMUSG00000026917
Gene NameWD repeat domain 5
SynonymsBmp2-induced gene, 2410008O07Rik, Big-3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL02742
Quality Score
Status
Chromosome2
Chromosomal Location27515157-27536535 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 27520425 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000113952]
Predicted Effect probably benign
Transcript: ENSMUST00000113952
SMART Domains Protein: ENSMUSP00000109585
Gene: ENSMUSG00000026917

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
WD40 34 73 4.11e-10 SMART
WD40 76 115 1.69e-11 SMART
WD40 118 157 9.22e-13 SMART
WD40 160 199 1.84e-12 SMART
WD40 202 242 7.33e-7 SMART
WD40 245 287 1.17e-5 SMART
WD40 290 331 3.27e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140396
SMART Domains Protein: ENSMUSP00000121654
Gene: ENSMUSG00000026917

DomainStartEndE-ValueType
WD40 7 46 1.69e-11 SMART
WD40 49 88 9.22e-13 SMART
WD40 91 130 1.84e-12 SMART
WD40 133 189 1.33e-4 SMART
WD40 192 234 1.17e-5 SMART
WD40 237 278 3.27e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144315
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 protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,095,625 T506A probably damaging Het
AI314180 A G 4: 58,840,757 V667A probably damaging Het
Ankib1 A C 5: 3,693,479 D845E probably benign Het
Atxn2 T C 5: 121,781,336 V369A possibly damaging Het
Ccdc50 T A 16: 27,406,784 probably benign Het
Clec2g A G 6: 128,980,261 I61V possibly damaging Het
Col16a1 G A 4: 130,061,379 probably benign Het
Dapk2 A G 9: 66,231,814 Y139C probably damaging Het
Fnip1 T C 11: 54,493,351 L334P probably damaging Het
Igf1r A G 7: 68,189,991 E682G possibly damaging Het
Ints8 T C 4: 11,241,627 E272G possibly damaging Het
Jph2 G A 2: 163,375,779 P326S probably damaging Het
Krtap1-4 T C 11: 99,583,114 probably benign Het
Lrp5 A G 19: 3,604,022 I1135T probably damaging Het
Lrrk1 A G 7: 66,308,691 V320A probably benign Het
Myh6 A C 14: 54,953,924 I820S possibly damaging Het
Napg A T 18: 62,986,248 T110S probably damaging Het
Nova1 G A 12: 46,720,692 Q56* probably null Het
Phyhip A G 14: 70,461,927 probably null Het
Pkd2l2 C A 18: 34,416,917 S205* probably null Het
Ppp2r1a G T 17: 20,959,003 C101F probably benign Het
Serpinb3c G A 1: 107,273,142 R182* probably null Het
St18 A C 1: 6,802,316 probably benign Het
St6galnac4 C T 2: 32,597,084 R264C possibly damaging Het
Tmem168 T C 6: 13,603,262 Y35C probably benign Het
Tmem219 A G 7: 126,897,048 L74P probably damaging Het
Trpc4 T A 3: 54,299,246 N622K probably damaging Het
Trpm6 A C 19: 18,830,012 probably benign Het
Ttl C A 2: 129,066,293 F49L possibly damaging Het
Vmn1r123 A T 7: 21,163,043 I287F possibly damaging Het
Vmn2r97 T G 17: 18,929,170 I273M probably damaging Het
Zcchc6 C T 13: 59,816,342 D250N probably damaging Het
Zfp37 C A 4: 62,192,311 C172F possibly damaging Het
Other mutations in Wdr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Wdr5 APN 2 27520867 missense probably benign 0.00
IGL01478:Wdr5 APN 2 27533832 missense probably damaging 1.00
IGL02690:Wdr5 APN 2 27534828 missense probably benign 0.08
IGL03059:Wdr5 APN 2 27519734 unclassified probably benign
R0241:Wdr5 UTSW 2 27533013 missense probably damaging 1.00
R0630:Wdr5 UTSW 2 27520607 missense probably benign 0.05
R0738:Wdr5 UTSW 2 27519412 missense probably damaging 1.00
R1329:Wdr5 UTSW 2 27531671 missense probably damaging 1.00
R4130:Wdr5 UTSW 2 27520429 splice site probably benign
R5488:Wdr5 UTSW 2 27525153 missense probably damaging 1.00
R5859:Wdr5 UTSW 2 27533350 missense probably damaging 1.00
R5879:Wdr5 UTSW 2 27528311 missense probably benign 0.01
R6775:Wdr5 UTSW 2 27533374 missense probably damaging 1.00
R7583:Wdr5 UTSW 2 27518775 missense probably benign 0.00
R7849:Wdr5 UTSW 2 27519451 missense probably damaging 1.00
Posted On2015-04-16