Incidental Mutation 'R4925:Wdr73'
ID 378957
Institutional Source Beutler Lab
Gene Symbol Wdr73
Ensembl Gene ENSMUSG00000025722
Gene Name WD repeat domain 73
Synonyms 2410008B13Rik, 1200011I23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R4925 (G1)
Quality Score 204
Status Not validated
Chromosome 7
Chromosomal Location 80890723-80901269 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80893195 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 222 (S222G)
Ref Sequence ENSEMBL: ENSMUSP00000026816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026816]
AlphaFold Q9CWR1
Predicted Effect probably benign
Transcript: ENSMUST00000026816
AA Change: S222G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026816
Gene: ENSMUSG00000025722
AA Change: S222G

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 unknown
Transcript: ENSMUST00000146402
AA Change: S195G
SMART Domains Protein: ENSMUSP00000119974
Gene: ENSMUSG00000025722
AA Change: S195G

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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.7%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T A 11: 58,425,714 (GRCm38) C173* probably null Het
2210407C18Rik T A 11: 58,610,687 (GRCm38) T157S probably damaging Het
3425401B19Rik T A 14: 32,663,180 (GRCm38) H276L possibly damaging Het
4930430A15Rik T C 2: 111,218,616 (GRCm38) K273E probably benign Het
Adam21 T G 12: 81,560,389 (GRCm38) M200L probably benign Het
Adamts3 A T 5: 89,684,323 (GRCm38) S974T probably benign Het
Adamtsl3 T A 7: 82,602,299 (GRCm38) probably null Het
Atp8b2 A G 3: 89,946,623 (GRCm38) probably null Het
Brd8 T C 18: 34,607,335 (GRCm38) T552A probably benign Het
Btaf1 A G 19: 37,011,333 (GRCm38) S1826G probably benign Het
C330027C09Rik T C 16: 49,016,363 (GRCm38) probably null Het
Ccdc163 A G 4: 116,711,331 (GRCm38) E77G possibly damaging Het
Ces2g A G 8: 104,964,894 (GRCm38) R194G probably benign Het
Cln8 A G 8: 14,895,004 (GRCm38) H106R possibly damaging Het
Col12a1 T G 9: 79,674,795 (GRCm38) L1391F probably damaging Het
Col16a1 G A 4: 130,054,176 (GRCm38) D230N probably damaging Het
Crhbp C A 13: 95,443,810 (GRCm38) G87V possibly damaging Het
Cyp3a16 C T 5: 145,452,834 (GRCm38) M240I probably benign Het
Cyp4a14 A T 4: 115,495,936 (GRCm38) W60R possibly damaging Het
Fam47e A G 5: 92,585,290 (GRCm38) Y304C probably damaging Het
Fgfbp1 A T 5: 43,979,292 (GRCm38) D219E probably damaging Het
Fgfr2 A T 7: 130,185,272 (GRCm38) Y485N probably damaging Het
Fhdc1 C T 3: 84,453,533 (GRCm38) V363M probably damaging Het
Foxb1 T A 9: 69,760,155 (GRCm38) E31V probably damaging Het
Galnt9 T C 5: 110,544,739 (GRCm38) V13A possibly damaging Het
Ghrl T C 6: 113,716,257 (GRCm38) D77G probably damaging Het
Gm21731 A G 13: 120,240,848 (GRCm38) Y60C probably damaging Het
Gpr85 A G 6: 13,835,978 (GRCm38) V309A probably benign Het
Greb1 T C 12: 16,681,471 (GRCm38) Y1622C probably damaging Het
Greb1l T A 18: 10,547,447 (GRCm38) M1555K possibly damaging Het
Grin2a T A 16: 9,669,823 (GRCm38) N404Y probably damaging Het
Gtpbp1 A C 15: 79,715,968 (GRCm38) I399L probably benign Het
Hectd4 T C 5: 121,322,690 (GRCm38) S911P possibly damaging Het
Igkc A T 6: 70,726,536 (GRCm38) K34* probably null Het
Igkv4-80 A C 6: 69,016,665 (GRCm38) S81A probably benign Het
Iqgap1 T A 7: 80,765,317 (GRCm38) I149F probably damaging Het
Lama1 C T 17: 67,794,314 (GRCm38) A1934V probably benign Het
Lrp1 C A 10: 127,575,075 (GRCm38) E1415* probably null Het
Macf1 A C 4: 123,526,652 (GRCm38) C270G probably benign Het
Marveld3 A G 8: 109,948,311 (GRCm38) V291A probably benign Het
Med23 T C 10: 24,910,747 (GRCm38) F917S probably damaging Het
Mfng C T 15: 78,764,388 (GRCm38) R163H probably benign Het
Ncan A T 8: 70,109,954 (GRCm38) D551E probably benign Het
Olfr1269 T A 2: 90,118,777 (GRCm38) T274S probably damaging Het
Olfr382 A T 11: 73,517,172 (GRCm38) I9N possibly damaging Het
Olfr649 T C 7: 104,190,180 (GRCm38) Y9C possibly damaging Het
Otx1 C A 11: 21,997,037 (GRCm38) A91S probably damaging Het
Pla2g12a T C 3: 129,878,818 (GRCm38) W34R probably damaging Het
Plekha7 A G 7: 116,158,128 (GRCm38) F529S probably damaging Het
Ppl T A 16: 5,104,982 (GRCm38) D215V probably damaging Het
Pramef20 A T 4: 144,377,932 (GRCm38) M1K probably null Het
Prdm1 T A 10: 44,440,169 (GRCm38) Y690F probably damaging Het
Prkcd T A 14: 30,607,613 (GRCm38) D124V probably damaging Het
Ptprc C A 1: 138,099,497 (GRCm38) D538Y probably benign Het
Rasl10b G A 11: 83,412,679 (GRCm38) V21M probably damaging Het
Rgsl1 T A 1: 153,812,277 (GRCm38) Y657F probably benign Het
Rrn3 T C 16: 13,799,972 (GRCm38) C360R probably damaging Het
Scarb1 T C 5: 125,297,299 (GRCm38) T257A probably damaging Het
Serpinb2 T A 1: 107,515,489 (GRCm38) M6K probably benign Het
Slco4a1 T C 2: 180,472,056 (GRCm38) Y429H probably benign Het
St13 G C 15: 81,399,585 (GRCm38) R4G probably benign Het
Taar3 T A 10: 23,950,543 (GRCm38) F329Y probably damaging Het
Tardbp A T 4: 148,618,651 (GRCm38) N285K probably benign Het
Tnni2 A T 7: 142,442,693 (GRCm38) E4V probably benign Het
Tnpo2 A T 8: 85,050,025 (GRCm38) I454F probably damaging Het
Tpr T G 1: 150,432,565 (GRCm38) H1690Q probably benign Het
Trav18 T C 14: 53,831,120 (GRCm38) S6P probably benign Het
Trf T C 9: 103,219,246 (GRCm38) N25S probably benign Het
Vmn1r59 T C 7: 5,454,116 (GRCm38) N215S probably benign Het
Vmn2r2 T C 3: 64,137,471 (GRCm38) M1V probably null Het
Wdr64 T C 1: 175,724,702 (GRCm38) probably null 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
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 2016-04-15