Incidental Mutation 'IGL00820:Wipi1'
ID14867
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wipi1
Ensembl Gene ENSMUSG00000041895
Gene NameWD repeat domain, phosphoinositide interacting 1
Synonyms4930533H01Rik, D11Ertd498e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.466) question?
Stock #IGL00820
Quality Score
Status
Chromosome11
Chromosomal Location109573331-109611967 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to C at 109583119 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047186] [ENSMUST00000103060] [ENSMUST00000106689]
Predicted Effect probably benign
Transcript: ENSMUST00000047186
SMART Domains Protein: ENSMUSP00000038635
Gene: ENSMUSG00000041895

DomainStartEndE-ValueType
low complexity region 68 76 N/A INTRINSIC
Blast:WD40 90 125 7e-12 BLAST
WD40 175 215 3.45e-3 SMART
WD40 218 260 4.13e0 SMART
WD40 306 342 4.93e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103060
SMART Domains Protein: ENSMUSP00000099349
Gene: ENSMUSG00000041895

DomainStartEndE-ValueType
low complexity region 68 76 N/A INTRINSIC
Blast:WD40 90 125 6e-12 BLAST
WD40 175 215 3.45e-3 SMART
WD40 218 260 4.13e0 SMART
WD40 306 342 4.93e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106689
SMART Domains Protein: ENSMUSP00000102300
Gene: ENSMUSG00000041895

DomainStartEndE-ValueType
low complexity region 68 76 N/A INTRINSIC
Blast:WD40 90 125 2e-11 BLAST
Blast:WD40 128 172 1e-6 BLAST
WD40 175 215 3.45e-3 SMART
WD40 218 260 4.13e0 SMART
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 WD40 repeat protein. Members of the WD40 repeat family are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik A T 4: 41,507,178 L206Q probably damaging Het
Abcg3 T A 5: 104,936,012 I631F probably benign Het
Baiap3 T C 17: 25,248,690 D314G probably benign Het
Ccl1 T C 11: 82,178,088 E41G possibly damaging Het
Ephx1 T C 1: 180,999,821 Y89C possibly damaging Het
Fbxw18 G A 9: 109,693,369 T144I probably damaging Het
Galt C T 4: 41,758,570 A357V probably benign Het
Gfra1 T C 19: 58,263,905 probably benign Het
Hivep1 A T 13: 42,183,818 I2458L probably benign Het
Itga8 A G 2: 12,232,892 V339A possibly damaging Het
Klk1b8 T C 7: 43,954,786 I226T probably benign Het
Mfsd6 C T 1: 52,708,306 V467M probably damaging Het
Mrpl16 T C 19: 11,774,413 V179A probably benign Het
Olfr603 G A 7: 103,383,465 T179I probably damaging Het
Pnpla6 A G 8: 3,532,358 T693A possibly damaging Het
Ptpn2 A C 18: 67,675,792 I318R possibly damaging Het
Slc17a2 A G 13: 23,819,334 H285R probably benign Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Sptb A G 12: 76,632,477 L68P probably damaging Het
Stxbp6 G A 12: 44,861,346 T163I probably damaging Het
Tex15 A G 8: 33,579,006 probably benign Het
Tti1 T C 2: 158,008,968 E117G probably damaging Het
Ube4b T C 4: 149,352,921 probably benign Het
Zan A T 5: 137,386,364 C5133S unknown Het
Other mutations in Wipi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02431:Wipi1 APN 11 109603791 missense probably damaging 1.00
R0082:Wipi1 UTSW 11 109578284 unclassified probably benign
R0400:Wipi1 UTSW 11 109577130 missense probably damaging 1.00
R1420:Wipi1 UTSW 11 109578372 missense probably benign 0.34
R2029:Wipi1 UTSW 11 109583190 missense probably damaging 1.00
R2077:Wipi1 UTSW 11 109577664 missense probably benign 0.04
R4324:Wipi1 UTSW 11 109603836 missense possibly damaging 0.63
R4928:Wipi1 UTSW 11 109579649 missense probably benign 0.04
R6964:Wipi1 UTSW 11 109603764 missense probably benign 0.15
Posted On2012-12-06