Incidental Mutation 'R5757:Wdr4'
ID 445120
Institutional Source Beutler Lab
Gene Symbol Wdr4
Ensembl Gene ENSMUSG00000024037
Gene Name WD repeat domain 4
Synonyms Wh, D530049K22Rik
MMRRC Submission 043360-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R5757 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 31713296-31738946 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31718063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 337 (V337E)
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 damaging
Transcript: ENSMUST00000171171
AA Change: V337E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126061
Gene: ENSMUSG00000024037
AA Change: V337E

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
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.5%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C T 11: 109,933,794 (GRCm39) A1204T probably benign Het
Adcy5 G T 16: 35,092,451 (GRCm39) R604L probably damaging Het
Ago4 A T 4: 126,419,877 (GRCm39) N33K probably damaging Het
Arid5b T C 10: 67,937,909 (GRCm39) Y406C probably damaging Het
Asgr1 A C 11: 69,945,778 (GRCm39) H18P probably benign Het
Asph A C 4: 9,637,722 (GRCm39) probably null Het
Brd4 G A 17: 32,420,272 (GRCm39) probably benign Het
Ccdc150 T A 1: 54,302,779 (GRCm39) I133N probably damaging Het
Cdon A C 9: 35,364,068 (GRCm39) H62P probably damaging Het
Clec4b1 T A 6: 123,046,713 (GRCm39) Y157* probably null Het
Clip1 G A 5: 123,765,460 (GRCm39) T810I probably benign Het
Crocc A T 4: 140,770,875 (GRCm39) L184Q probably damaging Het
Fat2 C T 11: 55,143,172 (GRCm39) G4226R probably damaging Het
Fbxo30 T A 10: 11,166,165 (GRCm39) C296S probably benign Het
Fndc3a T C 14: 72,794,025 (GRCm39) K883E probably benign Het
Glyr1 A T 16: 4,836,856 (GRCm39) M436K probably benign Het
Gm525 A T 11: 88,965,872 (GRCm39) Q38L probably benign Het
Gnas T A 2: 174,187,040 (GRCm39) V941D probably damaging Het
Hectd4 G C 5: 121,486,682 (GRCm39) E3226Q possibly damaging Het
Ints13 G A 6: 146,451,604 (GRCm39) R714C probably benign Het
Kif12 A T 4: 63,088,755 (GRCm39) W182R probably damaging Het
Kif21a A G 15: 90,835,548 (GRCm39) L1272P probably damaging Het
Klhl14 A C 18: 21,687,791 (GRCm39) Y544D probably damaging Het
Kntc1 T C 5: 123,945,372 (GRCm39) probably null Het
Lama1 G A 17: 68,045,782 (GRCm39) R229Q possibly damaging Het
Ltbp1 T A 17: 75,580,944 (GRCm39) probably null Het
Map4k5 A T 12: 69,871,429 (GRCm39) C498S probably damaging Het
Myh9 A T 15: 77,655,362 (GRCm39) V1198E probably benign Het
Ncoa6 T C 2: 155,253,528 (GRCm39) D950G probably damaging Het
Obsl1 G T 1: 75,469,699 (GRCm39) A1106D probably damaging Het
Or5m9 T A 2: 85,876,910 (GRCm39) V28E possibly damaging Het
Or8k27 T C 2: 86,275,922 (GRCm39) I135V probably benign Het
Otog T A 7: 45,890,545 (GRCm39) probably null Het
Oxtr A T 6: 112,454,222 (GRCm39) I14N probably damaging Het
Pfkfb3 A T 2: 11,485,141 (GRCm39) S490R probably damaging Het
Polk A C 13: 96,620,760 (GRCm39) M560R probably benign Het
Polq C T 16: 36,907,043 (GRCm39) H2335Y probably benign Het
Prr14 T A 7: 127,074,725 (GRCm39) V419D possibly damaging Het
Rflnb A G 11: 75,912,992 (GRCm39) V132A probably damaging Het
Rxfp1 T G 3: 79,568,627 (GRCm39) I283L possibly damaging Het
Ryr3 G A 2: 112,672,320 (GRCm39) R1384C probably damaging Het
Scnn1g T A 7: 121,337,438 (GRCm39) C100S probably damaging Het
Sfrp2 G C 3: 83,673,933 (GRCm39) G29R possibly damaging Het
Spop A G 11: 95,381,208 (GRCm39) H312R probably damaging Het
Tpx2 A G 2: 152,727,151 (GRCm39) probably null Het
Zbtb11 A G 16: 55,827,392 (GRCm39) N953D probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably 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
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
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'- TGGATGTGAACAAGGCTGTG -3'
(R):5'- AACATGTACCATCTCCCAGGGTC -3'

Sequencing Primer
(F):5'- AACAAGGCTGTGGGGAAACC -3'
(R):5'- GCTCAGGGTCTGCAGGTAGTATAG -3'
Posted On 2016-11-21