Incidental Mutation 'R2077:Wipi1'
ID229230
Institutional Source Beutler Lab
Gene Symbol Wipi1
Ensembl Gene ENSMUSG00000041895
Gene NameWD repeat domain, phosphoinositide interacting 1
Synonyms4930533H01Rik, D11Ertd498e
MMRRC Submission 040082-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.385) question?
Stock #R2077 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location109573331-109611967 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 109577664 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 368 (N368S)
Ref Sequence ENSEMBL: ENSMUSP00000099349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020928] [ENSMUST00000047186] [ENSMUST00000103060] [ENSMUST00000106689] [ENSMUST00000106696] [ENSMUST00000106697]
Predicted Effect probably benign
Transcript: ENSMUST00000020928
SMART Domains Protein: ENSMUSP00000020928
Gene: ENSMUSG00000020604

DomainStartEndE-ValueType
Pfam:Sulfatase 36 378 2e-69 PFAM
Pfam:Sulfatase_C 401 522 2.9e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047186
AA Change: N368S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000038635
Gene: ENSMUSG00000041895
AA Change: N368S

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
AA Change: N368S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099349
Gene: ENSMUSG00000041895
AA Change: N368S

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
Predicted Effect probably benign
Transcript: ENSMUST00000106696
SMART Domains Protein: ENSMUSP00000102307
Gene: ENSMUSG00000020604

DomainStartEndE-ValueType
Pfam:Sulfatase 3 55 3.8e-11 PFAM
Pfam:Sulfatase_C 78 199 5.8e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106697
SMART Domains Protein: ENSMUSP00000102308
Gene: ENSMUSG00000020604

DomainStartEndE-ValueType
Pfam:Sulfatase 36 378 2e-69 PFAM
Pfam:Sulfatase_C 401 522 4.7e-25 PFAM
Meta Mutation Damage Score 0.0585 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T A 4: 144,457,034 probably benign Het
Abhd16b A C 2: 181,493,416 D37A probably benign Het
Acp7 T C 7: 28,629,482 E91G probably damaging Het
Alms1 T A 6: 85,622,309 N1841K possibly damaging Het
Arhgap25 T A 6: 87,460,008 D620V probably damaging Het
Caps2 C T 10: 112,199,727 T371I possibly damaging Het
Ccdc175 A G 12: 72,140,020 I350T possibly damaging Het
Cdc25c G C 18: 34,738,239 L275V probably damaging Het
Cdc42bpb A G 12: 111,299,196 L1434P probably damaging Het
Cdkl3 A T 11: 52,026,839 E321V probably damaging Het
Clec2d G T 6: 129,183,190 V56L possibly damaging Het
Cops3 A T 11: 59,824,310 S301T possibly damaging Het
Crygd T C 1: 65,063,246 D19G probably damaging Het
Dnah2 T C 11: 69,496,606 I931M possibly damaging Het
Dst A T 1: 34,211,170 R4068S probably damaging Het
Fas C T 19: 34,320,553 probably benign Het
G6pd2 T A 5: 61,810,251 D456E probably damaging Het
Galnt18 G A 7: 111,554,602 R272W probably damaging Het
Grb2 C A 11: 115,645,825 G200W probably damaging Het
Herc4 A G 10: 63,264,053 N85S probably benign Het
Ighv7-2 T C 12: 113,912,107 D92G probably damaging Het
Itih3 A G 14: 30,909,835 V765A possibly damaging Het
Itm2b T C 14: 73,363,120 N247D probably benign Het
Kcnd3 T C 3: 105,666,999 V500A probably benign Het
Lrp2 C T 2: 69,507,843 G1198R probably damaging Het
Ltb4r2 A G 14: 55,761,987 T22A probably damaging Het
Mdga2 A G 12: 66,655,362 V355A probably damaging Het
Megf8 T A 7: 25,353,738 V1778E probably benign Het
Mroh2b G A 15: 4,944,966 E1143K probably damaging Het
Nbn A T 4: 15,979,389 Y458F probably damaging Het
Nlrc3 A G 16: 3,963,992 C534R probably benign Het
Nup155 A G 15: 8,143,026 E832G probably damaging Het
Olfr1131 A G 2: 87,628,829 Y122C probably damaging Het
Plcl2 A G 17: 50,606,829 T289A probably benign Het
Ptprs C T 17: 56,434,990 R7Q probably null Het
Rab3ip A T 10: 116,918,960 D198E possibly damaging Het
Scaf4 A T 16: 90,252,435 F255I unknown Het
Senp6 T C 9: 80,126,155 S475P probably benign Het
Shpk T C 11: 73,203,959 L67P probably damaging Het
Sik3 T A 9: 46,219,503 Y1246N probably damaging Het
Slc44a2 A G 9: 21,353,724 Y686C probably damaging Het
Slc6a19 A G 13: 73,700,566 V23A probably benign Het
Slit3 A T 11: 35,544,748 I169F possibly damaging Het
Stxbp5l A G 16: 37,236,275 V379A possibly damaging Het
Tex2 T C 11: 106,506,864 probably null Het
Tnpo3 A G 6: 29,586,144 V149A possibly damaging Het
Vmn1r158 T A 7: 22,790,390 R131S probably benign Het
Vmn2r24 T A 6: 123,815,399 C562S probably damaging Het
Zbtb41 T C 1: 139,424,093 S315P probably damaging Het
Other mutations in Wipi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Wipi1 APN 11 109583119 splice site probably benign
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
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
R7283:Wipi1 UTSW 11 109611311 start codon destroyed probably null 0.23
R7720:Wipi1 UTSW 11 109582423 missense probably damaging 1.00
R7739:Wipi1 UTSW 11 109579709 missense probably damaging 1.00
R8755:Wipi1 UTSW 11 109603819 missense probably damaging 1.00
Z1177:Wipi1 UTSW 11 109597198 missense probably damaging 1.00
Z1177:Wipi1 UTSW 11 109603801 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCACCTCCTGTCAGAATG -3'
(R):5'- CATGCTGATCATATAGTGTACTGGTG -3'

Sequencing Primer
(F):5'- TCTACACAGTGAGACCCTGTG -3'
(R):5'- GGGTCTGTAATTTACTCTCAAACAGC -3'
Posted On2014-09-17