Incidental Mutation 'IGL03158:Wdr4'
ID 411338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr4
Ensembl Gene ENSMUSG00000024037
Gene Name WD repeat domain 4
Synonyms Wh, D530049K22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # IGL03158
Quality Score
Status
Chromosome 17
Chromosomal Location 31713296-31738946 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31718102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 324 (Q324R)
Ref Sequence ENSEMBL: ENSMUSP00000126061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167419] [ENSMUST00000171171] [ENSMUST00000171291]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000166626
SMART Domains Protein: ENSMUSP00000125954
Gene: ENSMUSG00000024037

DomainStartEndE-ValueType
SCOP:d1kb0a2 18 93 1e-2 SMART
Blast:WD40 39 91 1e-30 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166992
Predicted Effect probably benign
Transcript: ENSMUST00000167419
SMART Domains Protein: ENSMUSP00000127617
Gene: ENSMUSG00000024037

DomainStartEndE-ValueType
SCOP:d1e1aa_ 71 143 5e-4 SMART
Blast:WD40 74 134 2e-36 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169224
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169454
Predicted Effect probably benign
Transcript: ENSMUST00000170176
SMART Domains Protein: ENSMUSP00000127073
Gene: ENSMUSG00000024037

DomainStartEndE-ValueType
SCOP:d1e1aa_ 33 105 9e-4 SMART
Blast:WD40 36 96 8e-37 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000171171
AA Change: Q324R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000126061
Gene: ENSMUSG00000024037
AA Change: Q324R

DomainStartEndE-ValueType
WD40 74 134 1.58e2 SMART
WD40 137 175 2.37e2 SMART
WD40 178 218 4.44e0 SMART
WD40 222 262 3.5e-4 SMART
low complexity region 417 434 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172284
SMART Domains Protein: ENSMUSP00000129736
Gene: ENSMUSG00000024037

DomainStartEndE-ValueType
Blast:WD40 36 88 2e-30 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000171291
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 gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a null allele display lethality during organogenesis with increased apoptosis and DNA damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc5 T C 5: 122,955,960 (GRCm39) T157A probably benign Het
Brms1l A G 12: 55,883,320 (GRCm39) E11G possibly damaging Het
C2cd3 A G 7: 100,023,683 (GRCm39) T90A probably damaging Het
Eml5 A T 12: 98,793,773 (GRCm39) probably benign Het
Fgl1 A T 8: 41,662,810 (GRCm39) H58Q probably benign Het
Ipo5 T C 14: 121,179,303 (GRCm39) probably benign Het
Lyst T C 13: 13,826,337 (GRCm39) probably null Het
Map1s T C 8: 71,367,378 (GRCm39) L761P probably damaging Het
Mup21 T C 4: 62,068,525 (GRCm39) E47G probably benign Het
Mup6 T A 4: 60,005,480 (GRCm39) F104I possibly damaging Het
Or5w12 G A 2: 87,502,135 (GRCm39) T192I probably benign Het
Or6c3b T A 10: 129,527,587 (GRCm39) T108S probably benign Het
Pdcd11 A T 19: 47,116,500 (GRCm39) D1550V possibly damaging Het
Prex2 C A 1: 11,336,291 (GRCm39) S1496R possibly damaging Het
Prpf4 A G 4: 62,334,256 (GRCm39) H237R probably benign Het
Pygl G T 12: 70,242,449 (GRCm39) T578K probably damaging Het
Rem2 A G 14: 54,716,415 (GRCm39) D176G probably benign Het
Unc80 T C 1: 66,680,833 (GRCm39) V2143A probably benign Het
Other mutations in Wdr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00817:Wdr4 APN 17 31,720,232 (GRCm39) missense possibly damaging 0.94
R0091:Wdr4 UTSW 17 31,715,890 (GRCm39) missense probably benign 0.01
R1524:Wdr4 UTSW 17 31,728,737 (GRCm39) intron probably benign
R2009:Wdr4 UTSW 17 31,719,584 (GRCm39) splice site probably benign
R3822:Wdr4 UTSW 17 31,731,195 (GRCm39) missense probably damaging 0.99
R4334:Wdr4 UTSW 17 31,718,126 (GRCm39) missense possibly damaging 0.70
R4786:Wdr4 UTSW 17 31,728,785 (GRCm39) missense probably damaging 1.00
R4873:Wdr4 UTSW 17 31,718,129 (GRCm39) missense probably benign 0.05
R4875:Wdr4 UTSW 17 31,718,129 (GRCm39) missense probably benign 0.05
R5117:Wdr4 UTSW 17 31,718,798 (GRCm39) missense probably benign 0.00
R5372:Wdr4 UTSW 17 31,729,554 (GRCm39) missense probably damaging 1.00
R5757:Wdr4 UTSW 17 31,718,063 (GRCm39) missense probably damaging 0.98
R6024:Wdr4 UTSW 17 31,720,272 (GRCm39) intron probably benign
R7401:Wdr4 UTSW 17 31,728,806 (GRCm39) missense probably damaging 1.00
R7836:Wdr4 UTSW 17 31,718,782 (GRCm39) critical splice donor site probably null
R9727:Wdr4 UTSW 17 31,718,045 (GRCm39) missense probably benign 0.14
Z1176:Wdr4 UTSW 17 31,728,873 (GRCm39) missense probably benign 0.15
Z1187:Wdr4 UTSW 17 31,731,177 (GRCm39) missense probably damaging 1.00
Z1192:Wdr4 UTSW 17 31,731,177 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02