Incidental Mutation 'R0510:Wdr73'
ID 47807
Institutional Source Beutler Lab
Gene Symbol Wdr73
Ensembl Gene ENSMUSG00000025722
Gene Name WD repeat domain 73
Synonyms 1200011I23Rik, 2410008B13Rik
MMRRC Submission 038704-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R0510 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 80540471-80551017 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 80547698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 107 (Q107*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026816] [ENSMUST00000026817] [ENSMUST00000119428]
AlphaFold Q9CWR1
Predicted Effect probably null
Transcript: ENSMUST00000026816
AA Change: Q109*
SMART Domains Protein: ENSMUSP00000026816
Gene: ENSMUSG00000025722
AA Change: Q109*

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000026817
SMART Domains Protein: ENSMUSP00000026817
Gene: ENSMUSG00000025723

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Bombesin 47 60 3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119428
SMART Domains Protein: ENSMUSP00000113407
Gene: ENSMUSG00000025723

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Bombesin 47 60 1.4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133979
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147154
Predicted Effect probably null
Transcript: ENSMUST00000146402
AA Change: Q107*
SMART Domains Protein: ENSMUSP00000119974
Gene: ENSMUSG00000025722
AA Change: Q107*

DomainStartEndE-ValueType
Blast:WD40 66 111 3e-26 BLAST
Blast:WD40 182 228 4e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152518
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.2%
Validation Efficiency 99% (102/103)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,125,482 (GRCm39) I67T probably damaging Het
Acoxl G A 2: 127,722,423 (GRCm39) probably null Het
Adam10 T A 9: 70,655,530 (GRCm39) W333R probably damaging Het
Ahnak C T 19: 8,995,596 (GRCm39) R5627* probably null Het
Alms1 A T 6: 85,597,351 (GRCm39) R1195* probably null Het
Ap2m1 T A 16: 20,360,990 (GRCm39) I334N possibly damaging Het
Brd8dc A T 18: 34,729,204 (GRCm39) D42E probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Ccdc110 T A 8: 46,388,194 (GRCm39) N50K probably benign Het
Ccdc168 T A 1: 44,100,257 (GRCm39) K280N possibly damaging Het
Cdhr1 T C 14: 36,802,633 (GRCm39) Y610C probably damaging Het
Cdkal1 C A 13: 29,875,579 (GRCm39) probably null Het
Celsr3 G A 9: 108,704,204 (GRCm39) C229Y possibly damaging Het
Clca4b A T 3: 144,619,112 (GRCm39) Y676N probably damaging Het
Col11a1 A T 3: 113,899,105 (GRCm39) probably benign Het
Cpe T A 8: 65,064,501 (GRCm39) I233F probably damaging Het
Cpsf1 A T 15: 76,487,857 (GRCm39) probably benign Het
Cpsf2 T C 12: 101,955,045 (GRCm39) V272A probably damaging Het
Creld2 A T 15: 88,704,159 (GRCm39) N50I probably damaging Het
Cyb5r1 T C 1: 134,337,430 (GRCm39) probably benign Het
Dcaf11 T C 14: 55,806,537 (GRCm39) V446A probably damaging Het
Defa34 A G 8: 22,155,988 (GRCm39) probably null Het
Dgat1 T C 15: 76,395,767 (GRCm39) Y72C possibly damaging Het
Efr3b G T 12: 4,032,058 (GRCm39) D183E probably benign Het
Enpp3 A T 10: 24,652,679 (GRCm39) D759E probably damaging Het
Epyc A G 10: 97,485,625 (GRCm39) T22A probably benign Het
Etfbkmt C T 6: 149,052,082 (GRCm39) R96W probably benign Het
Fam83b G T 9: 76,400,108 (GRCm39) L332I possibly damaging Het
Fat3 C A 9: 15,910,981 (GRCm39) E1674* probably null Het
Fbn1 A G 2: 125,184,845 (GRCm39) probably benign Het
Gm5134 C A 10: 75,810,079 (GRCm39) T120N probably benign Het
Gmip C T 8: 70,268,259 (GRCm39) probably benign Het
Gpbp1 G T 13: 111,577,279 (GRCm39) Q204K possibly damaging Het
Gpr108 T C 17: 57,542,358 (GRCm39) D549G possibly damaging Het
Gsdme C A 6: 50,223,107 (GRCm39) probably benign Het
Gucy2e T C 11: 69,126,402 (GRCm39) D326G probably benign Het
H2-Eb2 C T 17: 34,553,218 (GRCm39) Q135* probably null Het
Hectd4 T A 5: 121,419,959 (GRCm39) Y635N possibly damaging Het
Hectd4 G A 5: 121,443,736 (GRCm39) E1319K possibly damaging Het
Hs3st2 T C 7: 121,099,792 (GRCm39) S213P probably damaging Het
Ikbkb A T 8: 23,161,651 (GRCm39) C412* probably null Het
Itpr2 T C 6: 146,319,477 (GRCm39) T188A possibly damaging Het
Kcnh1 T A 1: 192,101,249 (GRCm39) probably benign Het
Kctd21 T C 7: 96,996,748 (GRCm39) F74L probably damaging Het
Krt23 T A 11: 99,377,608 (GRCm39) I133L probably damaging Het
Krt74 T C 15: 101,671,751 (GRCm39) noncoding transcript Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lmtk3 T A 7: 45,443,536 (GRCm39) L740M possibly damaging Het
Lrrc10 T A 10: 116,881,695 (GRCm39) L123Q probably damaging Het
Map1a A T 2: 121,136,255 (GRCm39) H2357L probably benign Het
Mbl1 A G 14: 40,880,706 (GRCm39) N198S probably damaging Het
Mcf2l A G 8: 13,047,337 (GRCm39) D233G probably damaging Het
Msto1 A G 3: 88,818,848 (GRCm39) L269P probably benign Het
Mtss1 A T 15: 58,828,387 (GRCm39) D175E probably benign Het
Myef2 A T 2: 124,950,954 (GRCm39) probably benign Het
Neb A T 2: 52,180,755 (GRCm39) probably benign Het
Or14a259 T C 7: 86,013,035 (GRCm39) N170S probably benign Het
Or4a39 A T 2: 89,237,135 (GRCm39) M96K probably damaging Het
Or5w15 A G 2: 87,567,825 (GRCm39) V281A probably damaging Het
Parp2 T A 14: 51,057,130 (GRCm39) Y361N probably damaging Het
Parp3 A G 9: 106,348,995 (GRCm39) F466L possibly damaging Het
Pcdh15 A T 10: 74,126,808 (GRCm39) N296Y probably damaging Het
Pdzrn3 A T 6: 101,128,014 (GRCm39) I884N probably damaging Het
Pim1 T C 17: 29,712,883 (GRCm39) probably benign Het
Pou6f2 A G 13: 18,314,308 (GRCm39) probably benign Het
Prelid3b A G 2: 174,307,743 (GRCm39) probably benign Het
Proc G A 18: 32,258,171 (GRCm39) T258I probably benign Het
Rab3gap2 T C 1: 184,992,705 (GRCm39) probably benign Het
Rb1cc1 A C 1: 6,319,395 (GRCm39) K938T probably benign Het
Rem2 T C 14: 54,713,754 (GRCm39) probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rin2 A G 2: 145,702,953 (GRCm39) K550E probably benign Het
Rps6ka4 G T 19: 6,817,866 (GRCm39) T17N probably benign Het
Rtn4 T A 11: 29,683,849 (GRCm39) probably benign Het
Ruvbl2 C T 7: 45,080,730 (GRCm39) probably benign Het
Scaper A G 9: 55,665,346 (GRCm39) probably benign Het
Sdc2 T C 15: 33,017,235 (GRCm39) probably benign Het
Semp2l1 T A 1: 32,584,956 (GRCm39) N318I possibly damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slco2b1 T A 7: 99,310,743 (GRCm39) M603L probably benign Het
Smpdl3b A G 4: 132,472,449 (GRCm39) V108A probably damaging Het
Sptbn4 C T 7: 27,060,991 (GRCm39) probably null Het
Srrm1 G A 4: 135,065,854 (GRCm39) probably benign Het
Ssh1 A T 5: 114,084,766 (GRCm39) D448E probably benign Het
Ssmem1 A T 6: 30,519,547 (GRCm39) probably null Het
Sv2b T G 7: 74,786,140 (GRCm39) M427L probably benign Het
Syne1 A G 10: 5,317,600 (GRCm39) L498P probably damaging Het
Syne2 T C 12: 75,900,923 (GRCm39) probably null Het
Taf6l G T 19: 8,755,885 (GRCm39) H254Q probably benign Het
Traf3ip3 T A 1: 192,860,539 (GRCm39) probably null Het
Trpm1 G A 7: 63,873,506 (GRCm39) G587D probably damaging Het
Ttn A G 2: 76,560,756 (GRCm39) V29215A probably damaging Het
Ubr4 T G 4: 139,157,534 (GRCm39) S2364A probably benign Het
Ush2a T A 1: 188,466,860 (GRCm39) probably benign Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r57 A T 7: 41,077,216 (GRCm39) S317T possibly damaging Het
Vwa2 A G 19: 56,886,500 (GRCm39) probably benign Het
Zbtb10 T A 3: 9,329,728 (GRCm39) V362E probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp296 A T 7: 19,311,831 (GRCm39) M113L probably benign Het
Zfp729b A T 13: 67,739,253 (GRCm39) V1004E probably benign Het
Other mutations in Wdr73
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00710:Wdr73 APN 7 80,543,411 (GRCm39) missense probably benign 0.01
IGL02183:Wdr73 APN 7 80,543,508 (GRCm39) missense probably damaging 1.00
IGL03253:Wdr73 APN 7 80,547,694 (GRCm39) missense probably benign 0.00
3-1:Wdr73 UTSW 7 80,547,707 (GRCm39) missense possibly damaging 0.91
R0469:Wdr73 UTSW 7 80,547,698 (GRCm39) nonsense probably null
R0507:Wdr73 UTSW 7 80,541,594 (GRCm39) missense possibly damaging 0.88
R1349:Wdr73 UTSW 7 80,543,000 (GRCm39) missense probably damaging 1.00
R1782:Wdr73 UTSW 7 80,541,526 (GRCm39) missense probably damaging 1.00
R1917:Wdr73 UTSW 7 80,543,081 (GRCm39) missense probably benign 0.17
R3085:Wdr73 UTSW 7 80,550,990 (GRCm39) unclassified probably benign
R4478:Wdr73 UTSW 7 80,542,969 (GRCm39) missense probably benign 0.06
R4479:Wdr73 UTSW 7 80,542,969 (GRCm39) missense probably benign 0.06
R4480:Wdr73 UTSW 7 80,542,969 (GRCm39) missense probably benign 0.06
R4910:Wdr73 UTSW 7 80,541,456 (GRCm39) missense probably damaging 0.97
R4925:Wdr73 UTSW 7 80,542,943 (GRCm39) missense probably benign 0.00
R5046:Wdr73 UTSW 7 80,542,173 (GRCm39) unclassified probably benign
R5286:Wdr73 UTSW 7 80,541,557 (GRCm39) missense probably benign 0.04
R5842:Wdr73 UTSW 7 80,541,458 (GRCm39) missense probably damaging 1.00
R6991:Wdr73 UTSW 7 80,541,604 (GRCm39) missense probably benign 0.17
R7182:Wdr73 UTSW 7 80,543,426 (GRCm39) missense possibly damaging 0.45
R7197:Wdr73 UTSW 7 80,542,946 (GRCm39) missense probably benign 0.02
R7362:Wdr73 UTSW 7 80,550,451 (GRCm39) missense probably damaging 1.00
R7771:Wdr73 UTSW 7 80,542,975 (GRCm39) missense probably benign 0.13
R8558:Wdr73 UTSW 7 80,548,254 (GRCm39) missense probably damaging 1.00
R8950:Wdr73 UTSW 7 80,550,131 (GRCm39) missense probably benign 0.00
X0022:Wdr73 UTSW 7 80,547,699 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- GTAGACAGAAACTGTGCTGTCCCC -3'
(R):5'- TGTCTGAAAGCTGACAGACGCC -3'

Sequencing Primer
(F):5'- CACCCCGTGAACTTTACTCA -3'
(R):5'- CGCCACAGAAGTTCAGGTTTTAG -3'
Posted On 2013-06-12