Incidental Mutation 'R7401:Wdr4'
ID 574205
Institutional Source Beutler Lab
Gene Symbol Wdr4
Ensembl Gene ENSMUSG00000024037
Gene Name WD repeat domain 4
Synonyms Wh, D530049K22Rik
MMRRC Submission 045483-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R7401 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 31713296-31738946 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31728806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 123 (L123S)
Ref Sequence ENSEMBL: ENSMUSP00000126061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167419] [ENSMUST00000171171] [ENSMUST00000171291]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000125954
Gene: ENSMUSG00000024037
AA Change: L87S

DomainStartEndE-ValueType
SCOP:d1kb0a2 18 93 1e-2 SMART
Blast:WD40 39 91 1e-30 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000167419
AA Change: L123S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127617
Gene: ENSMUSG00000024037
AA Change: L123S

DomainStartEndE-ValueType
SCOP:d1e1aa_ 71 143 5e-4 SMART
Blast:WD40 74 134 2e-36 BLAST
Predicted Effect
SMART Domains Protein: ENSMUSP00000127073
Gene: ENSMUSG00000024037
AA Change: L84S

DomainStartEndE-ValueType
SCOP:d1e1aa_ 33 105 9e-4 SMART
Blast:WD40 36 96 8e-37 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000171171
AA Change: L123S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126061
Gene: ENSMUSG00000024037
AA Change: L123S

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: ENSMUST00000171291
Predicted Effect
SMART Domains Protein: ENSMUSP00000129736
Gene: ENSMUSG00000024037
AA Change: L84S

DomainStartEndE-ValueType
Blast:WD40 36 88 2e-30 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A T 16: 16,936,268 (GRCm39) L152Q probably benign Het
Abcg3 A T 5: 105,114,640 (GRCm39) N292K probably damaging Het
Adamts3 T A 5: 89,855,309 (GRCm39) probably null Het
Adgrg7 T C 16: 56,562,781 (GRCm39) N519D probably benign Het
Adsl A G 15: 80,846,983 (GRCm39) H263R probably damaging Het
Ak9 A T 10: 41,299,000 (GRCm39) D1567V unknown Het
Bscl2 T C 19: 8,823,914 (GRCm39) F280L possibly damaging Het
Cacna1b T A 2: 24,569,306 (GRCm39) T873S probably benign Het
Cacna1c T C 6: 119,029,669 (GRCm39) probably null Het
Cast G T 13: 74,956,577 (GRCm39) A18E unknown Het
Cd207 A C 6: 83,654,830 (GRCm39) probably benign Het
Cd79b A G 11: 106,203,678 (GRCm39) S130P probably benign Het
Cfap52 A T 11: 67,840,459 (GRCm39) N157K probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Chaf1b G T 16: 93,681,268 (GRCm39) probably benign Het
Cntn1 A G 15: 92,215,870 (GRCm39) I968V probably benign Het
Cntn5 C T 9: 9,833,466 (GRCm39) V362I probably benign Het
Crem A G 18: 3,295,329 (GRCm39) S80P probably damaging Het
Csnk1g3 C T 18: 54,063,390 (GRCm39) T267I probably damaging Het
Cyth1 A T 11: 118,073,077 (GRCm39) N274K possibly damaging Het
Dicer1 C T 12: 104,678,537 (GRCm39) G594S probably benign Het
Enpp1 C T 10: 24,521,180 (GRCm39) C849Y probably damaging Het
Fam193a A G 5: 34,622,979 (GRCm39) E1189G possibly damaging Het
Fermt1 C A 2: 132,759,479 (GRCm39) V426L probably benign Het
Fes A G 7: 80,028,524 (GRCm39) probably null Het
Gmeb1 C A 4: 131,953,085 (GRCm39) L560F probably damaging Het
Hace1 T C 10: 45,546,722 (GRCm39) L452P probably damaging Het
Hecw2 T A 1: 53,943,502 (GRCm39) H975L probably damaging Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Il1r2 T A 1: 40,162,370 (GRCm39) C338S probably damaging Het
Iqcn T C 8: 71,169,921 (GRCm39) I1337T probably benign Het
Kcnb1 T C 2: 167,030,204 (GRCm39) S114G probably damaging Het
Lce1c A T 3: 92,587,623 (GRCm39) T17S unknown Het
Lhfpl4 C A 6: 113,153,627 (GRCm39) L141F possibly damaging Het
Ms4a14 T C 19: 11,279,594 (GRCm39) E988G possibly damaging Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Neurod1 T A 2: 79,285,290 (GRCm39) D31V probably benign Het
Neurod4 A G 10: 130,106,927 (GRCm39) C116R probably damaging Het
Nisch A G 14: 30,928,537 (GRCm39) V28A probably benign Het
Odad1 A C 7: 45,592,189 (GRCm39) Q323P probably damaging Het
Or4a72 A G 2: 89,405,449 (GRCm39) V207A probably benign Het
Or5d44 T G 2: 88,141,772 (GRCm39) M123L probably benign Het
Pabpc4l T A 3: 46,401,024 (GRCm39) R207W probably damaging Het
Pabpc4l A T 3: 46,400,687 (GRCm39) I319N probably damaging Het
Pcm1 G A 8: 41,762,568 (GRCm39) D1371N probably damaging Het
Peg10 G GGTC 6: 4,756,452 (GRCm39) probably benign Het
Plxnc1 C T 10: 94,706,867 (GRCm39) A557T probably benign Het
Prkdc T A 16: 15,466,602 (GRCm39) V58D probably damaging Het
Prpf40a A G 2: 53,046,959 (GRCm39) V259A probably benign Het
Psmd3 A T 11: 98,576,466 (GRCm39) T123S probably benign Het
Ptgr2 G T 12: 84,339,103 (GRCm39) probably benign Het
Ptprr A G 10: 115,884,141 (GRCm39) H66R probably benign Het
Rftn2 A G 1: 55,233,401 (GRCm39) probably null Het
Rsph14 T A 10: 74,865,628 (GRCm39) E70V possibly damaging Het
Slc24a5 G A 2: 124,930,111 (GRCm39) V471I probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spag9 A T 11: 93,988,515 (GRCm39) T862S probably benign Het
Ssbp2 T A 13: 91,839,002 (GRCm39) D291E probably benign Het
Supt5 T C 7: 28,023,197 (GRCm39) K329E probably damaging Het
Syne2 G T 12: 76,014,155 (GRCm39) K3115N probably damaging Het
Tars1 A T 15: 11,392,095 (GRCm39) L239* probably null Het
Tbxa2r T C 10: 81,168,625 (GRCm39) Y105H probably benign Het
Tesk1 T A 4: 43,445,743 (GRCm39) D265E probably damaging Het
Tril T C 6: 53,795,266 (GRCm39) D652G possibly damaging Het
Tsga10 T C 1: 37,873,268 (GRCm39) R204G probably null Het
Twnk A G 19: 45,000,219 (GRCm39) D645G probably benign Het
Umodl1 A T 17: 31,217,122 (GRCm39) D1118V probably damaging Het
Unc119 T C 11: 78,238,071 (GRCm39) I83T probably benign Het
Unc80 T C 1: 66,685,574 (GRCm39) W2233R possibly damaging Het
Vmn1r45 T A 6: 89,910,416 (GRCm39) T185S possibly damaging Het
Vmn2r111 G T 17: 22,790,067 (GRCm39) T313K possibly damaging Het
Zfpm2 A G 15: 40,966,386 (GRCm39) E957G 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
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
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'- AGTTTTCAGTCAGTCTCACACGTAG -3'
(R):5'- AGTCTGCCATCACACTCTGG -3'

Sequencing Primer
(F):5'- GTCAGTCTCACACGTAGCTGATAC -3'
(R):5'- TCTGGCTGCATGAACTGACTGAC -3'
Posted On 2019-09-13