Incidental Mutation 'IGL02690:Wdr5'
ID 303704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr5
Ensembl Gene ENSMUSG00000026917
Gene Name WD repeat domain 5
Synonyms Bmp2-induced gene, 2410008O07Rik, Big-3
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # IGL02690
Quality Score
Status
Chromosome 2
Chromosomal Location 27405169-27426547 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27424840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 326 (T326S)
Ref Sequence ENSEMBL: ENSMUSP00000109585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113952]
AlphaFold P61965
PDB Structure WDR5 IN COMPLEX WITH AN RBBP5 PEPTIDE RECRUITED TO NOVEL SITE [X-RAY DIFFRACTION]
WDR5 IN COMPLEX WITH AN RBBP5 PEPTIDE AND HISTONE H3 PEPTIDE [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000113952
AA Change: T326S

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000109585
Gene: ENSMUSG00000026917
AA Change: T326S

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 noncoding transcript
Transcript: ENSMUST00000116888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125088
Predicted Effect unknown
Transcript: ENSMUST00000140396
AA Change: T272S
SMART Domains Protein: ENSMUSP00000121654
Gene: ENSMUSG00000026917
AA Change: T272S

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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T C 17: 57,787,921 (GRCm39) V896A probably damaging Het
Ahnak C A 19: 8,989,948 (GRCm39) S3744* probably null Het
Aldh7a1 A G 18: 56,661,427 (GRCm39) probably benign Het
Ankk1 T A 9: 49,333,200 (GRCm39) I95F probably damaging Het
Borcs8 C A 8: 70,617,738 (GRCm39) A32D probably damaging Het
Ccn3 A G 15: 54,611,198 (GRCm39) Y111C probably damaging Het
Cdh1 T A 8: 107,384,516 (GRCm39) I328N probably damaging Het
Cebpz C T 17: 79,229,986 (GRCm39) D856N probably damaging Het
Clip2 T A 5: 134,539,013 (GRCm39) probably benign Het
Dock7 C A 4: 98,857,872 (GRCm39) V1451F possibly damaging Het
Edem3 T G 1: 151,680,550 (GRCm39) C558W probably damaging Het
Eif3f T C 7: 108,533,925 (GRCm39) V96A probably damaging Het
Gen1 A G 12: 11,291,576 (GRCm39) S738P probably damaging Het
Ipo8 A T 6: 148,678,861 (GRCm39) S912R probably benign Het
Kcp G T 6: 29,484,998 (GRCm39) probably benign Het
Larp7-ps T A 4: 92,079,248 (GRCm39) D191V probably damaging Het
Lrrfip1 A G 1: 90,981,383 (GRCm39) T2A probably damaging Het
Lyst A G 13: 13,815,710 (GRCm39) E1198G possibly damaging Het
Maml1 A G 11: 50,149,457 (GRCm39) L761P probably damaging Het
Mon2 T A 10: 122,845,532 (GRCm39) E1392V possibly damaging Het
Nol12 A G 15: 78,821,374 (GRCm39) E78G probably damaging Het
Or13c7b G A 4: 43,821,190 (GRCm39) T57M possibly damaging Het
Or5k17 G A 16: 58,746,214 (GRCm39) T240I possibly damaging Het
Rag2 A T 2: 101,459,839 (GRCm39) I50L probably benign Het
Rasgrf2 T C 13: 92,167,273 (GRCm39) N267D probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rsc1a1 A T 4: 141,412,612 (GRCm39) V100D probably damaging Het
Rtp1 T C 16: 23,250,132 (GRCm39) Y166H probably damaging Het
Scly A T 1: 91,233,047 (GRCm39) T109S probably benign Het
Scn8a A T 15: 100,868,135 (GRCm39) S327C probably damaging Het
Sgsm1 T C 5: 113,434,633 (GRCm39) probably benign Het
Slc4a9 A G 18: 36,665,040 (GRCm39) Y463C probably damaging Het
Speer1j C T 5: 11,555,228 (GRCm39) Q66* probably null Het
Sptan1 A G 2: 29,888,195 (GRCm39) M936V possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tbx20 T A 9: 24,685,033 (GRCm39) N37Y probably benign Het
Tent4a T A 13: 69,658,744 (GRCm39) M364L probably benign Het
Tex14 C T 11: 87,377,100 (GRCm39) T148I probably benign Het
Ubxn7 A G 16: 32,200,423 (GRCm39) E371G probably benign Het
Ugt2b35 T C 5: 87,149,096 (GRCm39) F116L probably benign Het
Vmn2r111 C T 17: 22,778,023 (GRCm39) probably null Het
Vmn2r26 T C 6: 124,003,091 (GRCm39) L167P probably benign Het
Vps13b T C 15: 35,917,288 (GRCm39) W3711R probably damaging Het
Other mutations in Wdr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Wdr5 APN 2 27,410,879 (GRCm39) missense probably benign 0.00
IGL01478:Wdr5 APN 2 27,423,844 (GRCm39) missense probably damaging 1.00
IGL02742:Wdr5 APN 2 27,410,437 (GRCm39) splice site probably benign
IGL03059:Wdr5 APN 2 27,409,746 (GRCm39) unclassified probably benign
R0241:Wdr5 UTSW 2 27,423,025 (GRCm39) missense probably damaging 1.00
R0630:Wdr5 UTSW 2 27,410,619 (GRCm39) missense probably benign 0.05
R0738:Wdr5 UTSW 2 27,409,424 (GRCm39) missense probably damaging 1.00
R1329:Wdr5 UTSW 2 27,421,683 (GRCm39) missense probably damaging 1.00
R4130:Wdr5 UTSW 2 27,410,441 (GRCm39) splice site probably benign
R5488:Wdr5 UTSW 2 27,415,165 (GRCm39) missense probably damaging 1.00
R5859:Wdr5 UTSW 2 27,423,362 (GRCm39) missense probably damaging 1.00
R5879:Wdr5 UTSW 2 27,418,323 (GRCm39) missense probably benign 0.01
R6775:Wdr5 UTSW 2 27,423,386 (GRCm39) missense probably damaging 1.00
R7583:Wdr5 UTSW 2 27,408,787 (GRCm39) missense probably benign 0.00
R7849:Wdr5 UTSW 2 27,409,463 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16