Incidental Mutation 'IGL03295:Wdr27'
ID 416063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr27
Ensembl Gene ENSMUSG00000046991
Gene Name WD repeat domain 27
Synonyms 0610012K18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # IGL03295
Quality Score
Status
Chromosome 17
Chromosomal Location 15038781-15163420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15154837 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8C5V5
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: 99,390,915 (GRCm39) probably benign Het
Adamts5 T C 16: 85,674,833 (GRCm39) T444A probably damaging Het
Aldh18a1 T C 19: 40,551,386 (GRCm39) E522G probably damaging Het
Bbx T C 16: 50,044,927 (GRCm39) T437A probably damaging Het
Bsx A G 9: 40,785,743 (GRCm39) probably benign Het
Cdc42bpa A G 1: 179,977,769 (GRCm39) N729S probably benign Het
Cdk1 G T 10: 69,178,373 (GRCm39) H162Q possibly damaging Het
Chrac1 A G 15: 72,965,445 (GRCm39) probably benign Het
Cip2a T C 16: 48,814,704 (GRCm39) S22P probably damaging Het
Ddx60 A T 8: 62,409,155 (GRCm39) D397V possibly damaging Het
Edn2 T A 4: 120,019,178 (GRCm39) C56S probably damaging Het
Gm4952 T C 19: 12,595,691 (GRCm39) V27A probably benign Het
Herc1 T A 9: 66,303,985 (GRCm39) S763T possibly damaging Het
Hspd1 G A 1: 55,119,334 (GRCm39) T381I probably benign Het
Krt1c T A 15: 101,724,864 (GRCm39) I249F probably damaging Het
Lman2l T C 1: 36,477,892 (GRCm39) D148G probably damaging Het
Lrp1b C T 2: 40,568,999 (GRCm39) probably null Het
Mier3 C A 13: 111,840,215 (GRCm39) T51K probably benign Het
Ppp1r36 C T 12: 76,485,192 (GRCm39) P305L probably damaging Het
Pramel27 G A 4: 143,579,759 (GRCm39) C448Y probably damaging Het
Prdm1 T C 10: 44,315,866 (GRCm39) I790V probably damaging Het
Sephs2 T C 7: 126,871,941 (GRCm39) E384G possibly damaging Het
Sipa1l1 T A 12: 82,479,714 (GRCm39) W1466R probably damaging Het
Snai2 T C 16: 14,524,638 (GRCm39) L48P possibly damaging Het
Stt3a A G 9: 36,674,627 (GRCm39) probably null Het
Synj1 T A 16: 90,735,318 (GRCm39) N1545I probably benign Het
Vav2 A T 2: 27,165,041 (GRCm39) S607T possibly damaging Het
Xcl1 A T 1: 164,763,004 (GRCm39) V19E unknown Het
Xlr3c A T X: 72,301,240 (GRCm39) probably null Het
Zbtb44 T A 9: 30,964,753 (GRCm39) D54E probably benign Het
Zscan21 A G 5: 138,123,540 (GRCm39) D73G possibly damaging Het
Other mutations in Wdr27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Wdr27 APN 17 15,148,572 (GRCm39) nonsense probably null
IGL00973:Wdr27 APN 17 15,134,140 (GRCm39) missense probably benign 0.01
IGL01012:Wdr27 APN 17 15,146,509 (GRCm39) missense probably damaging 1.00
IGL01924:Wdr27 APN 17 15,137,488 (GRCm39) missense probably damaging 0.99
IGL02044:Wdr27 APN 17 15,122,031 (GRCm39) missense possibly damaging 0.72
IGL02198:Wdr27 APN 17 15,128,860 (GRCm39) missense possibly damaging 0.52
IGL02430:Wdr27 APN 17 15,122,062 (GRCm39) missense probably damaging 0.98
IGL02496:Wdr27 APN 17 15,112,693 (GRCm39) splice site probably benign
IGL02552:Wdr27 APN 17 15,146,453 (GRCm39) missense probably damaging 1.00
IGL02590:Wdr27 APN 17 15,138,041 (GRCm39) missense possibly damaging 0.93
IGL02892:Wdr27 APN 17 15,096,438 (GRCm39) missense possibly damaging 0.95
IGL02957:Wdr27 APN 17 15,130,372 (GRCm39) splice site probably benign
PIT4498001:Wdr27 UTSW 17 15,154,831 (GRCm39) missense probably benign 0.01
R0329:Wdr27 UTSW 17 15,154,721 (GRCm39) splice site probably benign
R0671:Wdr27 UTSW 17 15,148,658 (GRCm39) missense probably benign 0.04
R1166:Wdr27 UTSW 17 15,112,733 (GRCm39) missense probably damaging 1.00
R1308:Wdr27 UTSW 17 15,148,646 (GRCm39) missense probably damaging 0.98
R1652:Wdr27 UTSW 17 15,137,532 (GRCm39) missense probably benign 0.01
R1771:Wdr27 UTSW 17 15,112,703 (GRCm39) missense probably damaging 1.00
R1966:Wdr27 UTSW 17 15,154,861 (GRCm39) missense possibly damaging 0.86
R2106:Wdr27 UTSW 17 15,141,116 (GRCm39) missense probably benign 0.44
R2131:Wdr27 UTSW 17 15,148,594 (GRCm39) missense probably damaging 1.00
R3803:Wdr27 UTSW 17 15,138,371 (GRCm39) missense probably benign 0.01
R4335:Wdr27 UTSW 17 15,141,018 (GRCm39) splice site probably null
R4577:Wdr27 UTSW 17 15,123,724 (GRCm39) missense probably benign 0.00
R4787:Wdr27 UTSW 17 15,152,816 (GRCm39) missense possibly damaging 0.86
R4853:Wdr27 UTSW 17 15,137,475 (GRCm39) splice site probably null
R4922:Wdr27 UTSW 17 15,141,016 (GRCm39) splice site probably null
R4951:Wdr27 UTSW 17 15,096,395 (GRCm39) missense probably damaging 0.99
R5784:Wdr27 UTSW 17 15,146,495 (GRCm39) missense probably damaging 1.00
R5809:Wdr27 UTSW 17 15,103,931 (GRCm39) missense probably damaging 1.00
R6128:Wdr27 UTSW 17 15,152,796 (GRCm39) nonsense probably null
R6584:Wdr27 UTSW 17 15,122,031 (GRCm39) missense probably damaging 1.00
R6705:Wdr27 UTSW 17 15,154,852 (GRCm39) missense probably damaging 1.00
R7511:Wdr27 UTSW 17 15,103,965 (GRCm39) missense probably benign 0.00
R8273:Wdr27 UTSW 17 15,049,838 (GRCm39) missense probably benign
R8350:Wdr27 UTSW 17 15,152,787 (GRCm39) missense probably benign
R8353:Wdr27 UTSW 17 15,112,751 (GRCm39) missense probably benign 0.08
R8450:Wdr27 UTSW 17 15,152,787 (GRCm39) missense probably benign
R8453:Wdr27 UTSW 17 15,112,751 (GRCm39) missense probably benign 0.08
R8535:Wdr27 UTSW 17 15,123,799 (GRCm39) missense possibly damaging 0.88
R8735:Wdr27 UTSW 17 15,103,929 (GRCm39) missense probably damaging 1.00
R8960:Wdr27 UTSW 17 15,103,908 (GRCm39) missense probably benign 0.01
R9120:Wdr27 UTSW 17 15,152,846 (GRCm39) missense probably damaging 1.00
R9183:Wdr27 UTSW 17 15,148,651 (GRCm39) missense possibly damaging 0.50
R9351:Wdr27 UTSW 17 15,128,833 (GRCm39) missense possibly damaging 0.52
R9373:Wdr27 UTSW 17 15,154,795 (GRCm39) missense probably benign 0.00
R9389:Wdr27 UTSW 17 15,111,980 (GRCm39) missense possibly damaging 0.87
Posted On 2016-08-02