Incidental Mutation 'IGL00679:Wipi2'
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ID14868
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wipi2
Ensembl Gene ENSMUSG00000029578
Gene NameWD repeat domain, phosphoinositide interacting 2
Synonyms1110018O08Rik, 2510001I10Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.844) question?
Stock #IGL00679
Quality Score
Status
Chromosome5
Chromosomal Location142627698-142670588 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 142659149 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 170 (D170G)
Ref Sequence ENSEMBL: ENSMUSP00000106405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036872] [ENSMUST00000110778]
Predicted Effect probably damaging
Transcript: ENSMUST00000036872
AA Change: D170G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045201
Gene: ENSMUSG00000029578
AA Change: D170G

DomainStartEndE-ValueType
Blast:WD40 88 123 5e-14 BLAST
WD40 173 213 1.92e-1 SMART
WD40 216 258 1.99e0 SMART
WD40 298 340 4.75e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110778
AA Change: D170G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106405
Gene: ENSMUSG00000029578
AA Change: D170G

DomainStartEndE-ValueType
Blast:WD40 88 123 6e-14 BLAST
WD40 173 213 1.92e-1 SMART
WD40 216 258 1.99e0 SMART
WD40 298 340 4.75e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153936
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WD40 repeat proteins 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, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013F07Rik A G 3: 108,537,635 E6G possibly damaging Het
Arhgap5 C A 12: 52,517,281 A345D probably damaging Het
Ccdc73 C T 2: 104,994,591 P990S probably damaging Het
Cep112 A G 11: 108,591,053 K692R probably damaging Het
Cep57l1 A T 10: 41,719,800 C319* probably null Het
Cntnap5c A G 17: 58,055,678 D342G probably damaging Het
Exoc1 A T 5: 76,567,023 H742L possibly damaging Het
Faah A T 4: 116,008,283 L69Q possibly damaging Het
Fbxw21 G A 9: 109,161,964 P9L probably damaging Het
Irak4 T A 15: 94,556,628 M218K probably benign Het
Kdm2a A T 19: 4,326,841 C235S probably damaging Het
Rab4a A G 8: 123,827,414 D29G probably damaging Het
Slc22a8 A G 19: 8,604,855 I133M possibly damaging Het
Other mutations in Wipi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Wipi2 APN 5 142666870 missense probably benign 0.00
IGL01388:Wipi2 APN 5 142661043 missense possibly damaging 0.82
IGL02523:Wipi2 APN 5 142661032 missense probably damaging 1.00
IGL02725:Wipi2 APN 5 142666863 missense possibly damaging 0.62
IGL03121:Wipi2 APN 5 142663102 missense probably benign 0.39
PIT4445001:Wipi2 UTSW 5 142666884 missense probably benign
R0677:Wipi2 UTSW 5 142658234 missense probably damaging 1.00
R1818:Wipi2 UTSW 5 142658208 missense probably damaging 1.00
R4670:Wipi2 UTSW 5 142659590 missense probably benign
R6414:Wipi2 UTSW 5 142655938 missense probably damaging 1.00
R6820:Wipi2 UTSW 5 142629800 missense probably benign 0.00
R7575:Wipi2 UTSW 5 142658232 missense probably damaging 1.00
Posted On2012-12-06