Incidental Mutation 'IGL00503:Wdr5'
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 #IGL00503
Quality Score
Chromosomal Location27515157-27536535 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 27520867 bp
Amino Acid Change Lysine to Glutamic Acid at position 162 (K162E)
Ref Sequence ENSEMBL: ENSMUSP00000109585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113952]
PDB Structure
Predicted Effect probably benign
Transcript: ENSMUST00000113952
AA Change: K162E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109585
Gene: ENSMUSG00000026917
AA Change: K162E

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 unknown
Transcript: ENSMUST00000140396
AA Change: K92E
SMART Domains Protein: ENSMUSP00000121654
Gene: ENSMUSG00000026917
AA Change: K92E

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T A 18: 68,950,102 R14* probably null Het
Abcb5 A G 12: 118,907,601 S688P probably benign Het
Adgb T A 10: 10,406,099 Q597L possibly damaging Het
Aga G A 8: 53,518,921 V210I probably benign Het
Akap17b A G X: 36,612,310 S515P probably damaging Het
Brinp3 A T 1: 146,901,167 T451S probably benign Het
Cabcoco1 G T 10: 68,541,805 T18N possibly damaging Het
Ccar2 C T 14: 70,142,531 W402* probably null Het
Ccdc15 G A 9: 37,320,473 A185V probably damaging Het
Ccdc50 G A 16: 27,409,352 E90K probably damaging Het
Cckbr G A 7: 105,434,242 M217I probably benign Het
Clec16a A G 16: 10,694,649 T398A possibly damaging Het
Col4a1 A G 8: 11,240,076 probably benign Het
Cyp4v3 T A 8: 45,307,021 E498V probably damaging Het
Dgke T C 11: 89,041,501 I488V probably benign Het
Dip2c A G 13: 9,567,898 D443G probably damaging Het
Edem3 T G 1: 151,818,513 S852A probably benign Het
Fbxo8 T A 8: 56,588,023 M158K probably benign Het
Galnt15 C T 14: 32,052,356 T359M possibly damaging Het
Herc6 A G 6: 57,607,145 N330D probably benign Het
Kdf1 T C 4: 133,528,157 S62P probably damaging Het
Larp4 T A 15: 99,987,421 I51N probably damaging Het
Mfsd6l T A 11: 68,556,473 I50N probably damaging Het
Mroh2b A G 15: 4,899,197 Y4C probably benign Het
Muc3 G T 5: 137,137,123 Y343* probably null Het
Myom2 A C 8: 15,114,289 probably null Het
Npat A T 9: 53,572,649 probably benign Het
Pamr1 A T 2: 102,642,272 I639F possibly damaging Het
Pcsk2 A G 2: 143,793,239 S345G probably damaging Het
Pcyt1a A G 16: 32,467,101 T197A probably damaging Het
Pkd1 A G 17: 24,565,427 M316V probably benign Het
Plekhs1 T C 19: 56,464,599 probably null Het
Sema3e G T 5: 14,240,572 R557M probably damaging Het
Sgsm1 T C 5: 113,276,142 N154S probably benign Het
Smg1 A T 7: 118,185,483 probably benign Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Spats1 A T 17: 45,454,085 probably null Het
Tnfaip6 T G 2: 52,055,847 V235G probably damaging Het
Trim34a A T 7: 104,261,331 T447S probably damaging Het
Tut1 G A 19: 8,959,096 A95T probably damaging Het
Urgcp C T 11: 5,716,448 R630Q possibly damaging Het
Vmn1r125 G T 7: 21,272,181 M1I probably null Het
Vmn2r99 A G 17: 19,378,854 T267A probably benign Het
Zscan26 T G 13: 21,445,101 K285Q probably damaging Het
Other mutations in Wdr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01478:Wdr5 APN 2 27533832 missense probably damaging 1.00
IGL02690:Wdr5 APN 2 27534828 missense probably benign 0.08
IGL02742:Wdr5 APN 2 27520425 splice site probably benign
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 On2015-08-05