Incidental Mutation 'IGL02044:Wdr27'
ID184881
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: 0.126) question?
Stock #IGL02044
Quality Score
Status
Chromosome17
Chromosomal Location14818519-14943158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 14901769 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 625 (Y625C)
Ref Sequence ENSEMBL: ENSMUSP00000153717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170386] [ENSMUST00000228330] [ENSMUST00000232147]
Predicted Effect possibly damaging
Transcript: ENSMUST00000170386
AA Change: Y625C

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: Y625C

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 possibly damaging
Transcript: ENSMUST00000228330
AA Change: Y625C

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232147
AA Change: Y625C

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 T C 7: 139,982,822 D772G possibly damaging Het
Atp6v0a2 T A 5: 124,646,014 N267K probably benign Het
Cx3cl1 T A 8: 94,780,540 V391D probably damaging Het
Dscaml1 C T 9: 45,746,943 R1671* probably null Het
Dzip3 A T 16: 48,948,427 S443T possibly damaging Het
Gm17727 T C 9: 35,776,663 K94E probably benign Het
Hrh2 A T 13: 54,214,946 T314S probably benign Het
Ifi206 C T 1: 173,480,991 V480M probably benign Het
Krt84 A G 15: 101,528,496 Y368H probably damaging Het
Lama1 T C 17: 67,811,490 S2566P probably benign Het
Lyst T A 13: 13,712,846 F3087I probably damaging Het
Map3k19 A T 1: 127,823,505 L703H probably damaging Het
Olfr150 C T 9: 39,736,974 S53L possibly damaging Het
Olfr25 A G 9: 38,330,165 S193G probably benign Het
Pard6a A G 8: 105,703,019 D203G probably damaging Het
Pde8a T C 7: 81,317,449 probably null Het
Pdia6 C A 12: 17,283,226 T400K probably damaging Het
Pdzd8 A T 19: 59,315,292 V354D possibly damaging Het
Sec13 A G 6: 113,736,420 I39T probably damaging Het
Smyd3 C T 1: 178,972,279 S365N probably benign Het
Sorcs1 A G 19: 50,288,159 probably benign Het
Tjp2 T G 19: 24,120,840 Y486S probably damaging Het
Tlr13 T C X: 106,157,097 F147L probably damaging Het
Ulk2 T A 11: 61,781,639 N958Y probably damaging Het
Unk T A 11: 116,049,328 M169K probably 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
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
IGL03295:Wdr27 APN 17 14934575 missense possibly damaging 0.71
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
Posted On2014-05-07