Incidental Mutation 'R0738:Wdr5'
ID 70558
Institutional Source Beutler Lab
Gene Symbol Wdr5
Ensembl Gene ENSMUSG00000026917
Gene Name WD repeat domain 5
Synonyms Bmp2-induced gene, 2410008O07Rik, Big-3
MMRRC Submission 038919-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R0738 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 27405169-27426547 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27409424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 49 (S49P)
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 damaging
Transcript: ENSMUST00000113952
AA Change: S49P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109585
Gene: ENSMUSG00000026917
AA Change: S49P

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
Meta Mutation Damage Score 0.8285 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 92.3%
Validation Efficiency 98% (46/47)
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
A930011G23Rik A T 5: 99,388,812 (GRCm39) M189K probably benign Het
Ank1 A T 8: 23,604,130 (GRCm39) E964D probably damaging Het
Ankhd1 A G 18: 36,778,302 (GRCm39) probably benign Het
Cd9 G T 6: 125,439,103 (GRCm39) Q169K probably benign Het
Cdc42bpa T A 1: 179,827,027 (GRCm39) probably benign Het
Ch25h T C 19: 34,451,787 (GRCm39) N247S possibly damaging Het
Dctn1 T C 6: 83,167,089 (GRCm39) probably null Het
Defa22 C T 8: 21,652,391 (GRCm39) T19I probably benign Het
Dscam T C 16: 96,620,981 (GRCm39) N576D possibly damaging Het
Epha3 T C 16: 63,415,975 (GRCm39) M675V probably damaging Het
Fam241a C A 3: 127,664,442 (GRCm39) A120S possibly damaging Het
Fkbp8 T A 8: 70,982,320 (GRCm39) I86N probably damaging Het
Herc4 C T 10: 63,124,928 (GRCm39) P514L possibly damaging Het
Ide A T 19: 37,255,364 (GRCm39) L813* probably null Het
Igkv12-41 G A 6: 69,835,675 (GRCm39) Q26* probably null Het
Itsn2 T C 12: 4,685,681 (GRCm39) V483A probably benign Het
Kcp A T 6: 29,490,438 (GRCm39) I1002N probably benign Het
Lrfn5 G T 12: 61,887,378 (GRCm39) E389* probably null Het
Lrp6 G T 6: 134,519,008 (GRCm39) A19E probably benign Het
Mad1l1 A G 5: 140,286,315 (GRCm39) L228P probably damaging Het
Map2 T C 1: 66,464,348 (GRCm39) probably benign Het
Med13l T A 5: 118,889,698 (GRCm39) Y1820N probably damaging Het
Mgam A G 6: 40,731,869 (GRCm39) N735S probably benign Het
Mid2 A G X: 139,664,425 (GRCm39) Y618C probably damaging Het
Mllt11 G A 3: 95,127,597 (GRCm39) Q58* probably null Het
Mttp A G 3: 137,809,074 (GRCm39) V678A probably damaging Het
Nfatc1 A G 18: 80,741,125 (GRCm39) S278P probably damaging Het
Ninj2 A G 6: 120,175,098 (GRCm39) probably benign Het
Nsd3 T A 8: 26,168,725 (GRCm39) probably null Het
Or5b102 A T 19: 13,041,102 (GRCm39) E109V probably damaging Het
Or8c17 T C 9: 38,180,421 (GRCm39) V204A possibly damaging Het
Pcdhb4 A G 18: 37,441,764 (GRCm39) N358S probably damaging Het
Plch1 T C 3: 63,609,974 (GRCm39) probably benign Het
Popdc3 T C 10: 45,191,354 (GRCm39) L155P probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm26 A T 14: 105,414,218 (GRCm39) I24N unknown Het
Rc3h2 T A 2: 37,295,386 (GRCm39) D210V probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Spopl T C 2: 23,427,533 (GRCm39) T200A probably benign Het
Tarbp1 A G 8: 127,165,540 (GRCm39) probably null Het
Thnsl1 T A 2: 21,218,173 (GRCm39) H121Q probably damaging Het
Tll1 T C 8: 64,554,984 (GRCm39) D233G probably damaging Het
Vmn2r27 A T 6: 124,200,661 (GRCm39) V432E possibly damaging Het
Zfyve26 A T 12: 79,342,308 (GRCm39) I46N 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTTTCAAGAGAGGTGCTAGGCTC -3'
(R):5'- TGCTGAATGCTAACCAACCCAGAG -3'

Sequencing Primer
(F):5'- CTCACACTGGCAGTTTAAAGG -3'
(R):5'- GAGACCAGTAACAACTAACACAGTC -3'
Posted On 2013-09-30