Incidental Mutation 'R1917:Wdr73'
ID 212605
Institutional Source Beutler Lab
Gene Symbol Wdr73
Ensembl Gene ENSMUSG00000025722
Gene Name WD repeat domain 73
Synonyms 2410008B13Rik, 1200011I23Rik
MMRRC Submission 039935-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R1917 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 80890723-80901269 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80893333 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 176 (D176N)
Ref Sequence ENSEMBL: ENSMUSP00000026816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026816]
AlphaFold Q9CWR1
Predicted Effect probably benign
Transcript: ENSMUST00000026816
AA Change: D176N

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000026816
Gene: ENSMUSG00000025722
AA Change: D176N

WD40 67 112 8.52e1 SMART
Blast:WD40 162 204 3e-6 BLAST
Blast:WD40 208 254 3e-17 BLAST
WD40 263 304 2.57e0 SMART
WD40 314 364 8.91e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133979
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139990
Predicted Effect probably benign
Transcript: ENSMUST00000146402
SMART Domains Protein: ENSMUSP00000119974
Gene: ENSMUSG00000025722

Blast:WD40 66 111 3e-26 BLAST
Blast:WD40 182 228 4e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152518
Meta Mutation Damage Score 0.0947 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.8%
  • 20x: 93.6%
Validation Efficiency 100% (83/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik A G 11: 29,824,039 (GRCm38) S473P probably benign Het
Abca8a A G 11: 110,091,515 (GRCm38) probably benign Het
Adgre5 A G 8: 83,729,109 (GRCm38) V190A probably damaging Het
Akap6 A G 12: 53,104,612 (GRCm38) N1153S probably benign Het
Aldh1a7 G A 19: 20,727,455 (GRCm38) H20Y probably benign Het
B430306N03Rik A G 17: 48,324,148 (GRCm38) E278G probably benign Het
Cacna1b C A 2: 24,616,879 (GRCm38) R72L probably null Het
Cc2d2a C G 5: 43,706,222 (GRCm38) S675R probably damaging Het
Ccdc88b T A 19: 6,849,226 (GRCm38) E1040D probably damaging Het
Cmtm7 A G 9: 114,763,364 (GRCm38) V55A probably damaging Het
Coq4 A C 2: 29,789,926 (GRCm38) T77P probably damaging Het
Cyp2j11 C A 4: 96,339,974 (GRCm38) W136L probably damaging Het
Dctn2 T A 10: 127,275,049 (GRCm38) Y86* probably null Het
Ddx56 A G 11: 6,263,937 (GRCm38) probably null Het
Dopey2 T C 16: 93,716,262 (GRCm38) S30P probably damaging Het
Ep400 T C 5: 110,703,575 (GRCm38) K1347R unknown Het
Fat3 T A 9: 15,997,057 (GRCm38) T2550S possibly damaging Het
Fcrla G T 1: 170,927,526 (GRCm38) C5* probably null Het
Fermt1 T A 2: 132,922,842 (GRCm38) D365V probably damaging Het
Fhod3 A G 18: 24,989,965 (GRCm38) probably benign Het
Fhod3 A G 18: 25,085,601 (GRCm38) D807G probably benign Het
Fnip1 C T 11: 54,480,684 (GRCm38) T177I probably damaging Het
Gart T C 16: 91,628,149 (GRCm38) Y662C probably damaging Het
Gda A T 19: 21,397,640 (GRCm38) probably benign Het
Gk A G X: 85,760,580 (GRCm38) I85T probably damaging Het
Gm12169 A G 11: 46,528,531 (GRCm38) D58G possibly damaging Het
Gm14548 C T 7: 3,897,638 (GRCm38) V38M probably damaging Het
Gm3476 A G 14: 6,118,358 (GRCm38) L255P possibly damaging Het
Gm9966 T C 7: 95,958,477 (GRCm38) C2R unknown Het
Gnpda1 T C 18: 38,333,190 (GRCm38) probably null Het
Gtf2h4 G A 17: 35,670,198 (GRCm38) L246F possibly damaging Het
Hao1 A T 2: 134,523,060 (GRCm38) S216T probably benign Het
Hnrnpr C A 4: 136,332,488 (GRCm38) S301* probably null Het
Hsd3b2 A G 3: 98,712,026 (GRCm38) I201T probably benign Het
Jade2 T C 11: 51,818,538 (GRCm38) E548G possibly damaging Het
Katnbl1 T C 2: 112,409,179 (GRCm38) I241T probably benign Het
Keap1 G T 9: 21,233,806 (GRCm38) Q299K probably benign Het
Kif1a T C 1: 93,019,031 (GRCm38) I1650V possibly damaging Het
Lrba G A 3: 86,664,501 (GRCm38) G275R probably damaging Het
Map3k9 C A 12: 81,780,790 (GRCm38) E29* probably null Het
Mat1a G A 14: 41,121,437 (GRCm38) V307I probably damaging Het
Mcm2 A T 6: 88,891,803 (GRCm38) M324K possibly damaging Het
Metap1d T C 2: 71,511,527 (GRCm38) V155A probably damaging Het
Mtbp A G 15: 55,564,677 (GRCm38) probably benign Het
Myh14 T C 7: 44,657,925 (GRCm38) T231A probably benign Het
Mylk4 A T 13: 32,724,853 (GRCm38) D90E probably benign Het
Myo15b T A 11: 115,882,254 (GRCm38) I1837K possibly damaging Het
Myo3a T A 2: 22,291,922 (GRCm38) H242Q probably damaging Het
Nxn A G 11: 76,261,672 (GRCm38) probably benign Het
Olfr791 T A 10: 129,527,049 (GRCm38) V274D probably damaging Het
Pak3 C A X: 143,791,302 (GRCm38) A553E possibly damaging Het
Pdia2 T A 17: 26,198,105 (GRCm38) T122S possibly damaging Het
Plod2 A G 9: 92,581,257 (GRCm38) T132A probably benign Het
Ptprz1 T A 6: 23,035,040 (GRCm38) probably benign Het
Rad54b A C 4: 11,601,693 (GRCm38) N416T probably damaging Het
Recql4 A T 15: 76,703,837 (GRCm38) Y1142* probably null Het
Rnf216 A G 5: 142,992,806 (GRCm38) V859A probably benign Het
Scnm1 G T 3: 95,130,273 (GRCm38) P161T possibly damaging Het
Serpinb6b A G 13: 32,978,240 (GRCm38) I222V probably benign Het
Serpinf1 A G 11: 75,411,007 (GRCm38) I274T possibly damaging Het
Slc28a1 T C 7: 81,169,586 (GRCm38) F641L probably benign Het
Slc8a2 A G 7: 16,152,920 (GRCm38) I657V probably benign Het
Smchd1 A G 17: 71,407,237 (GRCm38) I877T possibly damaging Het
Spata31 T C 13: 64,920,865 (GRCm38) Y276H possibly damaging Het
Spire2 A G 8: 123,363,071 (GRCm38) D447G probably benign Het
Stk3 G A 15: 35,073,217 (GRCm38) T119I probably damaging Het
Stxbp5 C A 10: 9,812,298 (GRCm38) V420F possibly damaging Het
Sult2a5 T C 7: 13,670,684 (GRCm38) F282S probably damaging Het
Syk A T 13: 52,622,708 (GRCm38) D248V probably damaging Het
Thoc6 C T 17: 23,669,390 (GRCm38) probably benign Het
Tll2 T A 19: 41,128,497 (GRCm38) D293V possibly damaging Het
Umodl1 G A 17: 30,984,043 (GRCm38) V457M probably damaging Het
Usp19 T A 9: 108,499,325 (GRCm38) C689* probably null Het
Usp24 T G 4: 106,410,286 (GRCm38) V1955G probably damaging Het
Vmn1r226 T C 17: 20,687,580 (GRCm38) S25P probably damaging Het
Vmn2r69 C T 7: 85,411,683 (GRCm38) C231Y probably damaging Het
Wnt7b T A 15: 85,559,080 (GRCm38) I41F probably damaging Het
Zfhx3 T C 8: 108,956,248 (GRCm38) S3440P unknown Het
Zfp52 T G 17: 21,560,164 (GRCm38) N91K probably benign Het
Zfp930 C A 8: 69,228,705 (GRCm38) Q350K probably benign Het
Zfp949 T C 9: 88,570,062 (GRCm38) S562P probably damaging Het
Other mutations in Wdr73
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00710:Wdr73 APN 7 80,893,663 (GRCm38) missense probably benign 0.01
IGL02183:Wdr73 APN 7 80,893,760 (GRCm38) missense probably damaging 1.00
IGL03253:Wdr73 APN 7 80,897,946 (GRCm38) missense probably benign 0.00
3-1:Wdr73 UTSW 7 80,897,959 (GRCm38) missense possibly damaging 0.91
R0469:Wdr73 UTSW 7 80,897,950 (GRCm38) nonsense probably null
R0507:Wdr73 UTSW 7 80,891,846 (GRCm38) missense possibly damaging 0.88
R0510:Wdr73 UTSW 7 80,897,950 (GRCm38) nonsense probably null
R1349:Wdr73 UTSW 7 80,893,252 (GRCm38) missense probably damaging 1.00
R1782:Wdr73 UTSW 7 80,891,778 (GRCm38) missense probably damaging 1.00
R3085:Wdr73 UTSW 7 80,901,242 (GRCm38) unclassified probably benign
R4478:Wdr73 UTSW 7 80,893,221 (GRCm38) missense probably benign 0.06
R4479:Wdr73 UTSW 7 80,893,221 (GRCm38) missense probably benign 0.06
R4480:Wdr73 UTSW 7 80,893,221 (GRCm38) missense probably benign 0.06
R4910:Wdr73 UTSW 7 80,891,708 (GRCm38) missense probably damaging 0.97
R4925:Wdr73 UTSW 7 80,893,195 (GRCm38) missense probably benign 0.00
R5046:Wdr73 UTSW 7 80,892,425 (GRCm38) unclassified probably benign
R5286:Wdr73 UTSW 7 80,891,809 (GRCm38) missense probably benign 0.04
R5842:Wdr73 UTSW 7 80,891,710 (GRCm38) missense probably damaging 1.00
R6991:Wdr73 UTSW 7 80,891,856 (GRCm38) missense probably benign 0.17
R7182:Wdr73 UTSW 7 80,893,678 (GRCm38) missense possibly damaging 0.45
R7197:Wdr73 UTSW 7 80,893,198 (GRCm38) missense probably benign 0.02
R7362:Wdr73 UTSW 7 80,900,703 (GRCm38) missense probably damaging 1.00
R7771:Wdr73 UTSW 7 80,893,227 (GRCm38) missense probably benign 0.13
R8558:Wdr73 UTSW 7 80,898,506 (GRCm38) missense probably damaging 1.00
R8950:Wdr73 UTSW 7 80,900,383 (GRCm38) missense probably benign 0.00
X0022:Wdr73 UTSW 7 80,897,951 (GRCm38) missense possibly damaging 0.47
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-07-14