Incidental Mutation 'R6964:Wipi1'
ID 541900
Institutional Source Beutler Lab
Gene Symbol Wipi1
Ensembl Gene ENSMUSG00000041895
Gene Name WD repeat domain, phosphoinositide interacting 1
Synonyms 4930533H01Rik, D11Ertd498e
MMRRC Submission 045074-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R6964 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 109573331-109611967 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 109603764 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 81 (R81Q)
Ref Sequence ENSEMBL: ENSMUSP00000099349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047186] [ENSMUST00000103060] [ENSMUST00000106689]
AlphaFold Q8R3E3
Predicted Effect probably benign
Transcript: ENSMUST00000047186
AA Change: R81Q

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000038635
Gene: ENSMUSG00000041895
AA Change: R81Q

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: R81Q

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099349
Gene: ENSMUSG00000041895
AA Change: R81Q

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
AA Change: R81Q

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102300
Gene: ENSMUSG00000041895
AA Change: R81Q

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630089N07Rik A T 16: 98,065,759 Y334* probably null Het
Abcc2 A C 19: 43,798,076 I116L probably benign Het
Adamts17 T A 7: 66,909,400 Y313N possibly damaging Het
Adamts17 A G 7: 67,004,353 T444A probably benign Het
Adamtsl1 A G 4: 86,156,854 I153V probably damaging Het
Ambra1 C T 2: 91,917,416 Q1046* probably null Het
Ap1g2 A T 14: 55,099,265 V750D possibly damaging Het
Bcl7a T C 5: 123,369,456 probably null Het
C4bp A T 1: 130,657,272 L9Q probably damaging Het
Cadps2 A C 6: 23,583,459 V344G probably damaging Het
Car7 A G 8: 104,543,581 D15G possibly damaging Het
Cep126 G C 9: 8,112,100 H157Q probably null Het
Chst11 C T 10: 83,191,381 T214I probably damaging Het
Cntrob G A 11: 69,309,491 R526* probably null Het
Cul1 A G 6: 47,516,509 T445A probably benign Het
Dclre1c T C 2: 3,453,169 V363A possibly damaging Het
Ddx58 A G 4: 40,225,697 S235P probably benign Het
Dock10 T A 1: 80,503,648 probably benign Het
Donson A G 16: 91,681,219 Y465H probably benign Het
Eif3e G A 15: 43,272,289 A118V probably benign Het
Fam47e A T 5: 92,566,052 Q180L probably damaging Het
Fat1 T G 8: 45,043,945 C4156G probably damaging Het
Fermt2 A T 14: 45,465,142 I441K probably damaging Het
Frmd4b C T 6: 97,305,197 R510Q probably damaging Het
Fscn1 C T 5: 142,960,660 A71V probably damaging Het
Gfap G A 11: 102,896,957 A54V possibly damaging Het
Gjc3 C T 5: 137,957,497 M175I probably benign Het
Gm10645 C T 8: 83,165,952 probably benign Het
Haus5 G A 7: 30,657,615 P464S probably benign Het
Helz2 T A 2: 181,230,428 I2584F probably damaging Het
Mak T A 13: 41,032,591 I534L probably benign Het
Map3k9 T C 12: 81,773,003 D159G probably benign Het
Mcat A G 15: 83,547,931 probably benign Het
Meltf A G 16: 31,880,162 D30G probably benign Het
Ntng2 T A 2: 29,197,029 Y452F probably benign Het
Olfr1130 T C 2: 87,607,613 L75P probably damaging Het
Olfr1245 T A 2: 89,574,989 I246F probably benign Het
Olfr1474 T A 19: 13,471,361 Y130* probably null Het
Olfr473 A T 7: 107,933,759 I80L probably benign Het
Paip1 C T 13: 119,450,770 T390I possibly damaging Het
Pianp T A 6: 124,999,390 V54D possibly damaging Het
Ptprn T C 1: 75,260,649 D103G possibly damaging Het
Rhcg A G 7: 79,600,531 V268A probably benign Het
Rhoj T A 12: 75,375,389 Y74N probably damaging Het
Snx13 A C 12: 35,119,789 T578P possibly damaging Het
Star T A 8: 25,811,823 H227Q probably benign Het
Stau2 A C 1: 16,390,005 M204R probably damaging Het
Steap4 A G 5: 7,975,568 Y43C probably damaging Het
Syt8 A G 7: 142,439,421 E21G probably benign Het
Tacr3 T C 3: 134,829,739 V156A probably damaging Het
Tmem106b C T 6: 13,082,423 T199M probably benign Het
Tmem131 T C 1: 36,796,292 T1583A probably damaging Het
Tom1 G A 8: 75,051,965 V87I probably null Het
Treml4 G T 17: 48,272,819 probably null Het
Ttn T C 2: 76,714,113 K32843R probably damaging Het
Wdr95 T G 5: 149,581,850 C223W probably damaging Het
Zc3h7a G A 16: 11,149,224 T568I probably benign Het
Zfp287 A T 11: 62,724,817 I228N probably damaging Het
Zfp606 T A 7: 12,489,592 V10E 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
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
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
R9256:Wipi1 UTSW 11 109583126 critical splice donor site probably null
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'- AGAGATGGTTTTCTTCTGCTCC -3'
(R):5'- TAAAGCCTGTTGTTGGGGCC -3'

Sequencing Primer
(F):5'- CTGCTCCAATTAACAGAAGGCTGG -3'
(R):5'- CAGACCTTGTAAACTAGCCTGTGTG -3'
Posted On 2018-11-28