Incidental Mutation 'R5117:Wdr4'
ID 392712
Institutional Source Beutler Lab
Gene Symbol Wdr4
Ensembl Gene ENSMUSG00000024037
Gene Name WD repeat domain 4
Synonyms Wh, D530049K22Rik
MMRRC Submission 042705-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R5117 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 31713296-31738946 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31718798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 304 (V304A)
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: V304A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126061
Gene: ENSMUSG00000024037
AA Change: V304A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 100% (67/67)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G A 9: 124,055,715 (GRCm39) T403I probably benign Het
4921509C19Rik T C 2: 151,314,460 (GRCm39) E406G probably benign Het
Abca8b T C 11: 109,857,629 (GRCm39) E641G probably damaging Het
Agrn T C 4: 156,270,010 (GRCm39) N49S probably benign Het
Cacna1b A G 2: 24,622,340 (GRCm39) S215P probably damaging Het
Cacna1g T A 11: 94,323,329 (GRCm39) I1292F probably damaging Het
Card14 T A 11: 119,229,076 (GRCm39) I662N probably damaging Het
Cep135 A G 5: 76,779,276 (GRCm39) K762R probably benign Het
Ces1b A G 8: 93,799,837 (GRCm39) probably null Het
Erich6 T G 3: 58,530,626 (GRCm39) I448L probably benign Het
Fads3 T G 19: 10,019,322 (GRCm39) probably null Het
Fam234a A G 17: 26,432,512 (GRCm39) F546L probably benign Het
Fbxl9 T A 8: 106,039,492 (GRCm39) R595* probably null Het
Gm10717 T C 9: 3,025,625 (GRCm39) L70S probably benign Het
Gm11787 G T 4: 3,509,524 (GRCm39) noncoding transcript Het
Gm5519 A G 19: 33,802,471 (GRCm39) *171W probably null Het
Grid2 T C 6: 63,233,917 (GRCm39) I26T probably benign Het
Hmcn2 T G 2: 31,348,061 (GRCm39) C4902W possibly damaging Het
Hsp90aa1 T C 12: 110,661,698 (GRCm39) N106S possibly damaging Het
Il18 A T 9: 50,492,809 (GRCm39) N125I possibly damaging Het
Ints9 G T 14: 65,230,540 (GRCm39) E156* probably null Het
Kalrn T C 16: 33,853,971 (GRCm39) probably null Het
Klkb1 A T 8: 45,742,149 (GRCm39) D43E possibly damaging Het
Lipo3 A T 19: 33,536,952 (GRCm39) M256K probably benign Het
Mapk6 C A 9: 75,305,017 (GRCm39) M133I possibly damaging Het
Med21 T A 6: 146,548,781 (GRCm39) probably benign Het
Myrf T A 19: 10,189,857 (GRCm39) E984V probably damaging Het
Naga A C 15: 82,221,657 (GRCm39) M28R probably damaging Het
Nphp4 T G 4: 152,608,689 (GRCm39) probably null Het
Nr1h4 T C 10: 89,314,284 (GRCm39) N295D probably damaging Het
Or10j27 T C 1: 172,958,484 (GRCm39) Q100R possibly damaging Het
Or13n4 A T 7: 106,422,869 (GRCm39) I288N probably damaging Het
Or55b3 T C 7: 102,126,709 (GRCm39) M123V probably damaging Het
Parp9 C A 16: 35,792,202 (GRCm39) probably null Het
Pax4 T C 6: 28,446,278 (GRCm39) I72V probably benign Het
Pcdh7 A G 5: 57,879,090 (GRCm39) I542V probably benign Het
Pcdhgb7 C T 18: 37,885,939 (GRCm39) R370W probably damaging Het
Pik3r1 G A 13: 101,828,744 (GRCm39) T18I probably benign Het
Ppara A G 15: 85,661,962 (GRCm39) I68V probably benign Het
Ptch2 T A 4: 116,963,146 (GRCm39) I211N probably damaging Het
Senp6 G A 9: 80,038,028 (GRCm39) V715M probably damaging Het
Serf2 C T 2: 121,281,184 (GRCm39) P41L possibly damaging Het
Serpina12 T C 12: 104,004,009 (GRCm39) I208V possibly damaging Het
Serpinf2 T C 11: 75,323,326 (GRCm39) D460G probably benign Het
Sh3d21 T C 4: 126,045,665 (GRCm39) E338G probably damaging Het
Slc7a11 T C 3: 50,333,599 (GRCm39) D384G probably damaging Het
Snx15 A G 19: 6,174,181 (GRCm39) probably null Het
Supt16 A G 14: 52,420,549 (GRCm39) F84L probably damaging Het
Tamalin A G 15: 101,128,418 (GRCm39) D152G probably damaging Het
Thoc2l A G 5: 104,668,121 (GRCm39) Y881C probably damaging Het
Tm9sf2 C A 14: 122,380,913 (GRCm39) Q169K probably benign Het
Trim56 A T 5: 137,142,832 (GRCm39) V228E probably benign Het
Triqk T A 4: 12,980,390 (GRCm39) probably null Het
Ttc21a T A 9: 119,795,631 (GRCm39) I1155N possibly damaging Het
Ube3b T G 5: 114,557,692 (GRCm39) Y1059D probably damaging Het
Vmn2r14 T C 5: 109,363,961 (GRCm39) T652A probably benign Het
Wwp2 T C 8: 108,280,694 (GRCm39) S646P possibly damaging Het
Zfand5 T A 19: 21,257,009 (GRCm39) S130T probably benign Het
Zfp599 A T 9: 22,161,396 (GRCm39) Y256* probably null Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfyve16 T A 13: 92,642,197 (GRCm39) I1209L possibly damaging Het
Other mutations in Wdr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00817:Wdr4 APN 17 31,720,232 (GRCm39) missense possibly damaging 0.94
IGL03158:Wdr4 APN 17 31,718,102 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- ACAGAAGGCTGGGTTCTCTC -3'
(R):5'- TCCAGATTGTTTCCGTGGACTC -3'

Sequencing Primer
(F):5'- GTAATATTCTCACGTCTAAGGAGAGC -3'
(R):5'- GATTGTTTCCGTGGACTCTTGCC -3'
Posted On 2016-06-15