Incidental Mutation 'R5842:Wdr73'
ID 450496
Institutional Source Beutler Lab
Gene Symbol Wdr73
Ensembl Gene ENSMUSG00000025722
Gene Name WD repeat domain 73
Synonyms 2410008B13Rik, 1200011I23Rik
MMRRC Submission 043223-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.259) question?
Stock # R5842 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 80890723-80901269 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80891710 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 361 (H361Q)
Ref Sequence ENSEMBL: ENSMUSP00000026816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026816]
AlphaFold Q9CWR1
Predicted Effect probably damaging
Transcript: ENSMUST00000026816
AA Change: H361Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026816
Gene: ENSMUSG00000025722
AA Change: H361Q

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: ENSMUST00000147589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152518
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.3%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 G A 3: 127,680,969 (GRCm38) H462Y probably damaging Het
Atp12a T C 14: 56,378,290 (GRCm38) I503T probably damaging Het
Bmp6 T A 13: 38,346,567 (GRCm38) V212D probably damaging Het
Col7a1 A G 9: 108,965,815 (GRCm38) D1479G unknown Het
Eea1 A G 10: 96,018,124 (GRCm38) D548G probably damaging Het
Eif5a2 T C 3: 28,794,397 (GRCm38) V135A probably benign Het
Eml2 G A 7: 19,201,163 (GRCm38) V432I probably damaging Het
Fstl5 T G 3: 76,322,283 (GRCm38) N130K possibly damaging Het
Gatm T C 2: 122,603,627 (GRCm38) I147V probably benign Het
Jakmip1 C T 5: 37,107,268 (GRCm38) R418C probably damaging Het
Kmt2d G A 15: 98,852,109 (GRCm38) probably benign Het
Matn2 A T 15: 34,399,056 (GRCm38) D363V probably damaging Het
Mov10 G A 3: 104,799,379 (GRCm38) probably benign Het
Mtpn C T 6: 35,512,290 (GRCm38) D100N probably benign Het
Nbas T C 12: 13,269,266 (GRCm38) probably null Het
Nlgn1 A T 3: 26,133,743 (GRCm38) probably null Het
Nnt T A 13: 119,394,747 (GRCm38) I155F probably damaging Het
Or5p80 A G 7: 108,630,652 (GRCm38) Y220C probably benign Het
Pacc1 G T 1: 191,346,789 (GRCm38) C223F probably damaging Het
Parp9 A G 16: 35,943,408 (GRCm38) I19V possibly damaging Het
Pcdha11 T A 18: 37,011,284 (GRCm38) S143T possibly damaging Het
Pdzph1 T G 17: 58,974,412 (GRCm38) S292R possibly damaging Het
Pmvk T A 3: 89,467,620 (GRCm38) V108D probably damaging Het
Ppil2 T C 16: 17,094,987 (GRCm38) T26A possibly damaging Het
Rc3h2 T C 2: 37,378,371 (GRCm38) T916A possibly damaging Het
Slc23a1 T A 18: 35,622,882 (GRCm38) I393F probably damaging Het
Slc4a7 T A 14: 14,778,866 (GRCm38) M925K probably damaging Het
Spag17 A G 3: 99,939,250 (GRCm38) D30G possibly damaging Het
Syde2 A G 3: 145,999,020 (GRCm38) I576V probably benign Het
Tgm2 C T 2: 158,143,081 (GRCm38) R35H probably damaging Het
Tiam1 A G 16: 89,855,999 (GRCm38) V745A probably benign Het
Timeless T C 10: 128,247,459 (GRCm38) probably null Het
Trp53tg5 T C 2: 164,471,369 (GRCm38) K129E possibly damaging Het
Ttc6 T C 12: 57,737,016 (GRCm38) Y1754H probably damaging Het
Ube4b G T 4: 149,331,430 (GRCm38) T1069N probably benign Het
Ugcg C T 4: 59,219,545 (GRCm38) S294L possibly damaging Het
Vgll2 T C 10: 52,025,292 (GRCm38) L106P probably damaging Het
Vsig10l T A 7: 43,468,972 (GRCm38) V798E probably benign Het
Xrcc3 A T 12: 111,804,530 (GRCm38) F322I possibly 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
R1917:Wdr73 UTSW 7 80,893,333 (GRCm38) missense probably benign 0.17
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
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 2016-12-20