Incidental Mutation 'IGL02430:Wdr27'
ID293096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr27
Ensembl Gene ENSMUSG00000046991
Gene NameWD repeat domain 27
Synonyms0610012K18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #IGL02430
Quality Score
Status
Chromosome17
Chromosomal Location14818519-14943158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 14901800 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 615 (S615A)
Ref Sequence ENSEMBL: ENSMUSP00000155992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170386] [ENSMUST00000228330] [ENSMUST00000232147]
Predicted Effect probably benign
Transcript: ENSMUST00000170386
AA Change: S615A

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: S615A

DomainStartEndE-ValueType
WD40 59 99 4.79e-1 SMART
WD40 114 149 6.36e1 SMART
WD40 152 192 3.93e-7 SMART
WD40 195 235 2.38e1 SMART
low complexity region 473 492 N/A INTRINSIC
WD40 498 539 1.48e1 SMART
WD40 542 581 5.26e-8 SMART
WD40 642 684 2.97e0 SMART
WD40 687 737 7.64e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228233
Predicted Effect probably benign
Transcript: ENSMUST00000228330
AA Change: S615A

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably damaging
Transcript: ENSMUST00000232147
AA Change: S615A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,522,760 E1249G probably benign Het
C8a G A 4: 104,817,522 T540I probably damaging Het
Clcnkb C A 4: 141,409,390 W388L possibly damaging Het
Cnbp A T 6: 87,845,178 Y114* probably null Het
Col13a1 A G 10: 61,874,751 V337A probably benign Het
Cyp2e1 A G 7: 140,770,226 K275E probably damaging Het
Dchs1 A G 7: 105,771,971 V414A probably benign Het
Ebf1 G A 11: 44,924,576 probably null Het
Gabbr1 C T 17: 37,056,308 R198* probably null Het
Gm12800 A G 4: 101,910,280 Y242C probably benign Het
Gpaa1 T C 15: 76,332,188 S36P possibly damaging Het
Hipk1 A G 3: 103,760,655 V532A probably damaging Het
Klhl18 A T 9: 110,437,401 C217S probably benign Het
Lmntd1 T A 6: 145,413,414 T191S probably benign Het
Ltbp2 T A 12: 84,799,401 Y925F probably damaging Het
Lvrn A G 18: 46,894,730 I871V probably benign Het
Mrgprb1 A G 7: 48,447,661 S168P possibly damaging Het
Olfr495 A T 7: 108,395,722 I201F probably benign Het
Olfr739 A G 14: 50,425,151 I211V probably benign Het
Pcnx T A 12: 81,919,322 N754K possibly damaging Het
Plaa A T 4: 94,582,573 M442K probably benign Het
Pole3 T C 4: 62,524,819 N28S possibly damaging Het
Prlr A G 15: 10,325,391 K4E probably damaging Het
Rp1l1 A T 14: 64,029,286 T774S probably benign Het
Selp C A 1: 164,126,383 P84Q probably damaging Het
Sh3bp4 T A 1: 89,153,163 W901R probably null Het
Slc6a20b A G 9: 123,597,240 Y527H probably damaging Het
Slit3 T A 11: 35,177,774 probably null Het
Spidr C T 16: 16,114,910 D169N probably damaging Het
Sstr2 T C 11: 113,624,804 L183P probably damaging Het
Tmem62 C T 2: 120,986,662 T233I probably damaging Het
Uba7 A G 9: 107,979,468 probably benign Het
Ubc A T 5: 125,387,570 I231N probably damaging Het
Ubl3 A T 5: 148,551,956 D8E probably benign Het
Unc5a A G 13: 55,002,482 I465M probably damaging Het
Vmn2r106 A G 17: 20,278,896 I251T probably benign Het
Vwa8 T C 14: 78,934,645 probably null Het
Washc5 A G 15: 59,366,291 Y195H probably damaging Het
Zfp160 T A 17: 21,025,530 L114H possibly damaging Het
Zfp523 T C 17: 28,195,139 probably benign Het
Other mutations in Wdr27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Wdr27 APN 17 14928310 nonsense probably null
IGL00973:Wdr27 APN 17 14913878 missense probably benign 0.01
IGL01012:Wdr27 APN 17 14926247 missense probably damaging 1.00
IGL01924:Wdr27 APN 17 14917226 missense probably damaging 0.99
IGL02044:Wdr27 APN 17 14901769 missense possibly damaging 0.72
IGL02198:Wdr27 APN 17 14908598 missense possibly damaging 0.52
IGL02496:Wdr27 APN 17 14892431 splice site probably benign
IGL02552:Wdr27 APN 17 14926191 missense probably damaging 1.00
IGL02590:Wdr27 APN 17 14917779 missense possibly damaging 0.93
IGL02892:Wdr27 APN 17 14876176 missense possibly damaging 0.95
IGL02957:Wdr27 APN 17 14910110 splice site probably benign
IGL03295:Wdr27 APN 17 14934575 missense possibly damaging 0.71
PIT4498001:Wdr27 UTSW 17 14934569 missense probably benign 0.01
R0329:Wdr27 UTSW 17 14934459 splice site probably benign
R0671:Wdr27 UTSW 17 14928396 missense probably benign 0.04
R1166:Wdr27 UTSW 17 14892471 missense probably damaging 1.00
R1308:Wdr27 UTSW 17 14928384 missense probably damaging 0.98
R1652:Wdr27 UTSW 17 14917270 missense probably benign 0.01
R1771:Wdr27 UTSW 17 14892441 missense probably damaging 1.00
R1966:Wdr27 UTSW 17 14934599 missense possibly damaging 0.86
R2106:Wdr27 UTSW 17 14920854 missense probably benign 0.44
R2131:Wdr27 UTSW 17 14928332 missense probably damaging 1.00
R3803:Wdr27 UTSW 17 14918109 missense probably benign 0.01
R4335:Wdr27 UTSW 17 14920756 splice site probably null
R4577:Wdr27 UTSW 17 14903462 missense probably benign 0.00
R4787:Wdr27 UTSW 17 14932554 missense possibly damaging 0.86
R4853:Wdr27 UTSW 17 14917213 splice site probably null
R4922:Wdr27 UTSW 17 14920754 splice site probably null
R4951:Wdr27 UTSW 17 14876133 missense probably damaging 0.99
R5784:Wdr27 UTSW 17 14926233 missense probably damaging 1.00
R5809:Wdr27 UTSW 17 14883669 missense probably damaging 1.00
R6128:Wdr27 UTSW 17 14932534 nonsense probably null
R6584:Wdr27 UTSW 17 14901769 missense probably damaging 1.00
R6705:Wdr27 UTSW 17 14934590 missense probably damaging 1.00
R7511:Wdr27 UTSW 17 14883703 missense probably benign 0.00
Posted On2015-04-16