Incidental Mutation 'IGL00503:Wdr5'
ID 332478
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: 0.968) question?
Stock # IGL00503
Quality Score
Status
Chromosome 2
Chromosomal Location 27405169-27426547 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27410879 bp (GRCm39)
Zygosity Heterozygous
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]
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: K162E

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

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

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T A 18: 69,083,173 (GRCm39) R14* probably null Het
Abcb5 A G 12: 118,871,336 (GRCm39) S688P probably benign Het
Adgb T A 10: 10,281,843 (GRCm39) Q597L possibly damaging Het
Aga G A 8: 53,971,956 (GRCm39) V210I probably benign Het
Akap17b A G X: 35,875,963 (GRCm39) S515P probably damaging Het
Brinp3 A T 1: 146,776,905 (GRCm39) T451S probably benign Het
Cabcoco1 G T 10: 68,377,635 (GRCm39) T18N possibly damaging Het
Ccar2 C T 14: 70,379,980 (GRCm39) W402* probably null Het
Ccdc15 G A 9: 37,231,769 (GRCm39) A185V probably damaging Het
Ccdc50 G A 16: 27,228,102 (GRCm39) E90K probably damaging Het
Cckbr G A 7: 105,083,449 (GRCm39) M217I probably benign Het
Clec16a A G 16: 10,512,513 (GRCm39) T398A possibly damaging Het
Col4a1 A G 8: 11,290,076 (GRCm39) probably benign Het
Cyp4v3 T A 8: 45,760,058 (GRCm39) E498V probably damaging Het
Dgke T C 11: 88,932,327 (GRCm39) I488V probably benign Het
Dip2c A G 13: 9,617,934 (GRCm39) D443G probably damaging Het
Edem3 T G 1: 151,694,264 (GRCm39) S852A probably benign Het
Fbxo8 T A 8: 57,041,058 (GRCm39) M158K probably benign Het
Galnt15 C T 14: 31,774,313 (GRCm39) T359M possibly damaging Het
Herc6 A G 6: 57,584,130 (GRCm39) N330D probably benign Het
Kdf1 T C 4: 133,255,468 (GRCm39) S62P probably damaging Het
Larp4 T A 15: 99,885,302 (GRCm39) I51N probably damaging Het
Mfsd6l T A 11: 68,447,299 (GRCm39) I50N probably damaging Het
Mroh2b A G 15: 4,928,679 (GRCm39) Y4C probably benign Het
Muc17 G T 5: 137,165,971 (GRCm39) Y343* probably null Het
Myom2 A C 8: 15,164,289 (GRCm39) probably null Het
Npat A T 9: 53,483,949 (GRCm39) probably benign Het
Pamr1 A T 2: 102,472,617 (GRCm39) I639F possibly damaging Het
Pcsk2 A G 2: 143,635,159 (GRCm39) S345G probably damaging Het
Pcyt1a A G 16: 32,285,919 (GRCm39) T197A probably damaging Het
Pkd1 A G 17: 24,784,401 (GRCm39) M316V probably benign Het
Plekhs1 T C 19: 56,453,031 (GRCm39) probably null Het
Sema3e G T 5: 14,290,586 (GRCm39) R557M probably damaging Het
Sgsm1 T C 5: 113,424,008 (GRCm39) N154S probably benign Het
Smg1 A T 7: 117,784,706 (GRCm39) probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spats1 A T 17: 45,765,011 (GRCm39) probably null Het
Tnfaip6 T G 2: 51,945,859 (GRCm39) V235G probably damaging Het
Trim34a A T 7: 103,910,538 (GRCm39) T447S probably damaging Het
Tut1 G A 19: 8,936,460 (GRCm39) A95T probably damaging Het
Urgcp C T 11: 5,666,448 (GRCm39) R630Q possibly damaging Het
Vmn1r125 G T 7: 21,006,106 (GRCm39) M1I probably null Het
Vmn2r99 A G 17: 19,599,116 (GRCm39) T267A probably benign Het
Zscan26 T G 13: 21,629,271 (GRCm39) K285Q probably damaging Het
Other mutations in Wdr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01478:Wdr5 APN 2 27,423,844 (GRCm39) missense probably damaging 1.00
IGL02690:Wdr5 APN 2 27,424,840 (GRCm39) missense probably benign 0.08
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 2015-08-05