Incidental Mutation 'IGL03059:Wdr5'
ID 409391
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 # IGL03059
Quality Score
Status
Chromosome 2
Chromosomal Location 27405169-27426547 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 27409746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000113952]
AlphaFold P61965
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg T C 16: 22,717,755 (GRCm39) V244A possibly damaging Het
Aoc1l3 A T 6: 48,964,349 (GRCm39) Y119F probably benign Het
Ccdc187 C A 2: 26,184,253 (GRCm39) R48M probably null Het
Cnga2 G A X: 71,051,878 (GRCm39) R251H probably damaging Het
Cop1 A C 1: 159,134,279 (GRCm39) K174Q probably damaging Het
Cul9 T C 17: 46,849,913 (GRCm39) D512G probably damaging Het
Flt4 G A 11: 49,533,134 (GRCm39) A1140T probably damaging Het
Galnt3 C T 2: 65,923,954 (GRCm39) R438H probably damaging Het
Gatm G A 2: 122,440,181 (GRCm39) A86V probably damaging Het
Klhl28 C T 12: 64,998,340 (GRCm39) A385T probably benign Het
Klhl40 T A 9: 121,607,203 (GRCm39) V121E probably damaging Het
L1cam T A X: 72,910,630 (GRCm39) H30L probably benign Het
Lss A T 10: 76,367,860 (GRCm39) probably benign Het
Mrnip A T 11: 50,090,596 (GRCm39) Q253H probably damaging Het
Mroh9 A T 1: 162,852,205 (GRCm39) F828Y possibly damaging Het
Mst1 T C 9: 107,962,012 (GRCm39) C668R probably damaging Het
Nadk A G 4: 155,671,253 (GRCm39) E143G probably benign Het
Nap1l4 C T 7: 143,080,902 (GRCm39) probably null Het
Nme8 A G 13: 19,836,414 (GRCm39) I254T possibly damaging Het
Or14c41 A G 7: 86,234,779 (GRCm39) I99V probably benign Het
Or1ab2 T A 8: 72,863,842 (GRCm39) L144Q probably damaging Het
Or2y12 A G 11: 49,426,021 (GRCm39) Y3C probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pkd1l3 C T 8: 110,374,999 (GRCm39) L1491F probably damaging Het
Plec G T 15: 76,059,968 (GRCm39) T3488N probably damaging Het
Plk2 T G 13: 110,535,668 (GRCm39) S497A probably benign Het
Polr1a G A 6: 71,913,496 (GRCm39) V617I probably benign Het
Prelid3a C A 18: 67,609,909 (GRCm39) Y112* probably null Het
Rnf113a2 C A 12: 84,464,250 (GRCm39) S47R possibly damaging Het
Rtel1 A G 2: 180,991,976 (GRCm39) N410D probably benign Het
Ryr3 C T 2: 112,630,392 (GRCm39) A2140T probably damaging Het
Slc22a29 A G 19: 8,147,354 (GRCm39) L336P probably benign Het
Sphkap T A 1: 83,234,963 (GRCm39) Q1621L probably damaging Het
Trgc1 A T 13: 19,400,072 (GRCm39) K123* probably null Het
Ttn T A 2: 76,739,863 (GRCm39) S3559C probably benign Het
Ubr4 C T 4: 139,207,987 (GRCm39) R4923W probably damaging Het
Vac14 T C 8: 111,437,084 (GRCm39) L599P 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
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 2016-08-02