Incidental Mutation 'IGL03295:Wdr27'
ID416063
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: 0.125) question?
Stock #IGL03295
Quality Score
Status
Chromosome17
Chromosomal Location14818519-14943158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 14934575 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 27 (K27E)
Ref Sequence ENSEMBL: ENSMUSP00000155992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170386] [ENSMUST00000228330] [ENSMUST00000232147]
Predicted Effect probably benign
Transcript: ENSMUST00000170386
AA Change: K27E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: K27E

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: ENSMUST00000228221
Predicted Effect probably benign
Transcript: ENSMUST00000228330
AA Change: K27E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228869
Predicted Effect possibly damaging
Transcript: ENSMUST00000232147
AA Change: K27E

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
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
A930011G23Rik A T 5: 99,243,056 probably benign Het
Adamts5 T C 16: 85,877,945 T444A probably damaging Het
Aldh18a1 T C 19: 40,562,942 E522G probably damaging Het
Bbx T C 16: 50,224,564 T437A probably damaging Het
Bsx A G 9: 40,874,447 probably benign Het
C330027C09Rik T C 16: 48,994,341 S22P probably damaging Het
Cdc42bpa A G 1: 180,150,204 N729S probably benign Het
Cdk1 G T 10: 69,342,543 H162Q possibly damaging Het
Chrac1 A G 15: 73,093,596 probably benign Het
Ddx60 A T 8: 61,956,121 D397V possibly damaging Het
Edn2 T A 4: 120,161,981 C56S probably damaging Het
Gm13103 G A 4: 143,853,189 C448Y probably damaging Het
Gm4952 T C 19: 12,618,327 V27A probably benign Het
Herc1 T A 9: 66,396,703 S763T possibly damaging Het
Hspd1 G A 1: 55,080,175 T381I probably benign Het
Krt2 T A 15: 101,816,429 I249F probably damaging Het
Lman2l T C 1: 36,438,811 D148G probably damaging Het
Lrp1b C T 2: 40,678,987 probably null Het
Mier3 C A 13: 111,703,681 T51K probably benign Het
Ppp1r36 C T 12: 76,438,418 P305L probably damaging Het
Prdm1 T C 10: 44,439,870 I790V probably damaging Het
Sephs2 T C 7: 127,272,769 E384G possibly damaging Het
Sipa1l1 T A 12: 82,432,940 W1466R probably damaging Het
Snai2 T C 16: 14,706,774 L48P possibly damaging Het
Stt3a A G 9: 36,763,331 probably null Het
Synj1 T A 16: 90,938,430 N1545I probably benign Het
Vav2 A T 2: 27,275,029 S607T possibly damaging Het
Xcl1 A T 1: 164,935,435 V19E unknown Het
Xlr3c A T X: 73,257,634 probably null Het
Zbtb44 T A 9: 31,053,457 D54E probably benign Het
Zscan21 A G 5: 138,125,278 D73G possibly damaging 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
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
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 On2016-08-02