Incidental Mutation 'IGL02198:Wdr27'
ID284126
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 #IGL02198
Quality Score
Status
Chromosome17
Chromosomal Location14818519-14943158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 14908598 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Valine at position 531 (G531V)
Ref Sequence ENSEMBL: ENSMUSP00000155992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170386] [ENSMUST00000228330] [ENSMUST00000232147]
Predicted Effect probably benign
Transcript: ENSMUST00000170386
AA Change: G531V

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: G531V

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: G531V

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232147
AA Change: G531V

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A G 2: 131,546,492 I381T probably damaging Het
Armt1 T A 10: 4,454,064 F383Y possibly damaging Het
Cdca2 A G 14: 67,694,996 V486A probably benign Het
Cep78 A G 19: 15,956,369 L615S probably damaging Het
Clec2h C A 6: 128,674,016 C86* probably null Het
Cntnap5a C T 1: 116,580,532 T1258I probably benign Het
Dhrs7c T A 11: 67,815,802 M262K possibly damaging Het
Dmpk C A 7: 19,088,192 F332L probably damaging Het
Dyx1c1 G A 9: 72,969,066 V308I probably benign Het
Fap A G 2: 62,554,798 F73L probably benign Het
Igsf10 A T 3: 59,325,978 I1778N possibly damaging Het
Il6ra T C 3: 89,890,348 T71A probably benign Het
Itpr2 C A 6: 146,323,227 A1389S probably damaging Het
Mob3b T C 4: 35,083,983 N69D probably damaging Het
Nr1h3 A G 2: 91,192,725 W21R probably damaging Het
Olfr1305 A T 2: 111,873,248 N202K probably damaging Het
Ovca2 A G 11: 75,178,770 V9A possibly damaging Het
Ovch2 T A 7: 107,794,834 K137N probably damaging Het
Pabpc1l A G 2: 164,027,616 N112S probably damaging Het
Plekho1 T A 3: 95,992,184 N99I probably damaging Het
Recql5 A C 11: 115,894,673 S666A probably benign Het
Scn3a G T 2: 65,508,489 H615Q probably benign Het
Sel1l3 A G 5: 53,139,799 probably benign Het
Slc38a2 A T 15: 96,692,377 S328T probably damaging Het
Taok1 T C 11: 77,575,677 probably benign Het
Tsnax T A 8: 125,032,712 Y237* probably null Het
Ttn T A 2: 76,714,630 K24382N probably damaging Het
Ugt1a9 T A 1: 88,071,443 V205E possibly damaging Het
Unc80 C A 1: 66,529,986 D933E possibly damaging Het
Vnn1 A T 10: 23,903,425 T411S probably benign Het
Zfp760 G T 17: 21,722,212 V123L 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
IGL02430:Wdr27 APN 17 14901800 missense probably damaging 0.98
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