Incidental Mutation 'IGL02590:Wdr27'
ID299719
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 #IGL02590
Quality Score
Status
Chromosome17
Chromosomal Location14818519-14943158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 14917779 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 388 (A388T)
Ref Sequence ENSEMBL: ENSMUSP00000155992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170386] [ENSMUST00000228330] [ENSMUST00000232147]
Predicted Effect probably benign
Transcript: ENSMUST00000170386
AA Change: A388T

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: A388T

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 probably benign
Transcript: ENSMUST00000228330
AA Change: A388T

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232147
AA Change: A388T

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,457,834 F118S probably damaging Het
Adam5 T G 8: 24,744,135 probably benign Het
Bok T C 1: 93,686,675 probably benign Het
C1s1 C T 6: 124,531,276 V585I possibly damaging Het
Chd2 C T 7: 73,453,200 V1346I probably benign Het
Cyb5a A T 18: 84,871,607 T54S probably benign Het
Dnah7b A T 1: 46,123,777 T428S probably benign Het
Efhc1 T C 1: 20,967,384 Y262H probably damaging Het
Fyb2 A T 4: 104,979,053 I404F probably damaging Het
Glra2 T C X: 165,254,226 N237S probably benign Het
Gypc A G 18: 32,530,007 *96R probably null Het
Il15 T C 8: 82,343,283 I51V probably benign Het
Itgb2 T C 10: 77,559,513 C483R probably damaging Het
Kdr C T 5: 75,936,323 D1272N probably benign Het
Kif14 C A 1: 136,496,004 T969K probably benign Het
Klhl42 T C 6: 147,092,312 S261P probably damaging Het
Lrp1 C A 10: 127,552,791 G3263V probably damaging Het
Mid1 A G X: 169,927,023 E5G probably damaging Het
Mmrn2 T A 14: 34,399,267 L698* probably null Het
Myh14 T G 7: 44,624,079 Q1393P probably damaging Het
Ncoa7 C T 10: 30,694,163 E267K probably damaging Het
Obox5 T C 7: 15,757,592 I19T possibly damaging Het
Olfr1054 A G 2: 86,333,000 S119P possibly damaging Het
Olfr53 A G 7: 140,652,392 probably null Het
Pcnx A G 12: 81,994,978 Y2128C probably damaging Het
Plcb1 A G 2: 135,294,864 D293G probably benign Het
Prpf4b T C 13: 34,888,146 probably benign Het
Psapl1 A T 5: 36,205,053 T330S probably benign Het
Rap1gap A G 4: 137,720,300 T453A probably damaging Het
Ric1 T A 19: 29,567,481 probably benign Het
Robo1 A G 16: 73,043,132 E1590G probably benign Het
Sorl1 C T 9: 42,046,561 V596I probably benign Het
Tlr12 A G 4: 128,617,389 I356T probably benign Het
Trav8d-2 T C 14: 53,042,449 S8P possibly damaging Het
Tyms C A 5: 30,064,151 V75L probably benign Het
Vmn1r230 T A 17: 20,846,910 S120R probably damaging Het
Vmn2r84 T A 10: 130,391,487 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
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
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