Incidental Mutation 'R7739:Wipi1'
ID 596441
Institutional Source Beutler Lab
Gene Symbol Wipi1
Ensembl Gene ENSMUSG00000041895
Gene Name WD repeat domain, phosphoinositide interacting 1
Synonyms D11Ertd498e, 4930533H01Rik
MMRRC Submission 045795-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R7739 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 109464347-109502215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109470535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 295 (S295P)
Ref Sequence ENSEMBL: ENSMUSP00000099349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047186] [ENSMUST00000103060] [ENSMUST00000106689]
AlphaFold Q8R3E3
Predicted Effect probably damaging
Transcript: ENSMUST00000047186
AA Change: S295P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038635
Gene: ENSMUSG00000041895
AA Change: S295P

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 damaging
Transcript: ENSMUST00000103060
AA Change: S295P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099349
Gene: ENSMUSG00000041895
AA Change: S295P

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik C A 15: 57,885,875 (GRCm39) A336S probably benign Het
Abca8b A G 11: 109,865,417 (GRCm39) S347P probably benign Het
Acvr1 T C 2: 58,352,983 (GRCm39) T326A possibly damaging Het
Atp13a4 A G 16: 29,275,419 (GRCm39) I355T Het
Atp2a2 G A 5: 122,607,768 (GRCm39) T247I probably damaging Het
Atp2b1 T A 10: 98,837,227 (GRCm39) D555E probably benign Het
Aurkb G T 11: 68,939,058 (GRCm39) G94* probably null Het
B130006D01Rik A T 11: 95,616,986 (GRCm39) H37L unknown Het
Cabin1 A G 10: 75,494,492 (GRCm39) L1629P probably damaging Het
Ccdc168 G A 1: 44,095,578 (GRCm39) T1840I possibly damaging Het
Ccdc80 A C 16: 44,916,186 (GRCm39) D314A probably benign Het
Cdc42bpg T A 19: 6,360,845 (GRCm39) I201N probably damaging Het
Chd9 T C 8: 91,761,653 (GRCm39) L2246P probably damaging Het
Cpsf1 T A 15: 76,484,511 (GRCm39) M657L probably benign Het
Dmtf1 A G 5: 9,190,453 (GRCm39) V87A probably damaging Het
Drd5 G T 5: 38,477,421 (GRCm39) W138L probably damaging Het
Dspp G A 5: 104,326,012 (GRCm39) D792N unknown Het
Fat2 C A 11: 55,171,957 (GRCm39) E2919* probably null Het
Fgf20 A G 8: 40,732,937 (GRCm39) V167A probably damaging Het
Grm5 T C 7: 87,779,266 (GRCm39) V934A possibly damaging Het
Gtf3c3 G T 1: 54,444,198 (GRCm39) A730D possibly damaging Het
H2-T24 A G 17: 36,325,483 (GRCm39) V335A probably benign Het
Havcr2 T G 11: 46,347,384 (GRCm39) N120K probably damaging Het
Hmcn2 T C 2: 31,348,038 (GRCm39) F4895L possibly damaging Het
Igsf3 T C 3: 101,342,847 (GRCm39) Y475H probably damaging Het
Lonp1 T C 17: 56,933,620 (GRCm39) D85G probably benign Het
Lrrc49 T C 9: 60,500,975 (GRCm39) S657G probably benign Het
Lrrk2 T A 15: 91,584,816 (GRCm39) Y382N probably damaging Het
Macf1 T C 4: 123,279,391 (GRCm39) D3870G probably damaging Het
Mtf1 T A 4: 124,718,081 (GRCm39) C260S probably damaging Het
Naa35 A G 13: 59,747,598 (GRCm39) D110G probably damaging Het
Npas3 A T 12: 54,115,501 (GRCm39) T808S probably damaging Het
Or5a1 A G 19: 12,097,909 (GRCm39) W56R probably damaging Het
Pax9 A T 12: 56,746,884 (GRCm39) H240L probably benign Het
Pik3c2a T C 7: 115,993,529 (GRCm39) T413A probably benign Het
Pik3r1 A G 13: 101,846,205 (GRCm39) V127A probably benign Het
Pik3r5 A G 11: 68,381,324 (GRCm39) E170G probably damaging Het
Polr1a T C 6: 71,931,819 (GRCm39) I966T possibly damaging Het
Prelid2 A G 18: 42,045,433 (GRCm39) probably null Het
Rab29 T A 1: 131,799,923 (GRCm39) M166K probably damaging Het
Rab2b T C 14: 52,503,717 (GRCm39) E135G probably damaging Het
Rnf103 T A 6: 71,486,463 (GRCm39) S365T possibly damaging Het
Rnf213 G A 11: 119,301,687 (GRCm39) E387K Het
Sh3d19 T C 3: 86,031,038 (GRCm39) V734A probably benign Het
Spata31e5 T A 1: 28,816,689 (GRCm39) T448S possibly damaging Het
Spmip3 T A 1: 177,570,828 (GRCm39) I54K probably damaging Het
Ssbp1 T G 6: 40,454,914 (GRCm39) N124K probably damaging Het
Tbc1d31 C T 15: 57,799,494 (GRCm39) R227* probably null Het
Tcerg1 A G 18: 42,657,039 (GRCm39) T174A unknown Het
Tenm2 T C 11: 35,960,388 (GRCm39) S980G possibly damaging Het
Trim30a T C 7: 104,079,386 (GRCm39) I156M possibly damaging Het
Trim39 T C 17: 36,571,396 (GRCm39) D454G possibly damaging Het
Trpc7 A T 13: 56,921,579 (GRCm39) *863K probably null Het
Tubgcp3 A G 8: 12,707,561 (GRCm39) Y143H probably benign Het
Vmn1r33 C T 6: 66,589,357 (GRCm39) D66N probably benign Het
Vmn2r8 A T 5: 108,950,043 (GRCm39) I268N probably damaging Het
Vmn2r91 A C 17: 18,356,080 (GRCm39) E582D probably benign Het
Vtcn1 T C 3: 100,791,211 (GRCm39) F83S probably damaging Het
Wdr81 G T 11: 75,332,811 (GRCm39) D684E Het
Zfp27 A T 7: 29,593,699 (GRCm39) H755Q possibly damaging Het
Zfp963 A G 8: 70,195,533 (GRCm39) F307L possibly damaging Het
Other mutations in Wipi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Wipi1 APN 11 109,473,945 (GRCm39) splice site probably benign
IGL02431:Wipi1 APN 11 109,494,617 (GRCm39) missense probably damaging 1.00
R0082:Wipi1 UTSW 11 109,469,110 (GRCm39) unclassified probably benign
R0400:Wipi1 UTSW 11 109,467,956 (GRCm39) missense probably damaging 1.00
R1420:Wipi1 UTSW 11 109,469,198 (GRCm39) missense probably benign 0.34
R2029:Wipi1 UTSW 11 109,474,016 (GRCm39) missense probably damaging 1.00
R2077:Wipi1 UTSW 11 109,468,490 (GRCm39) missense probably benign 0.04
R4324:Wipi1 UTSW 11 109,494,662 (GRCm39) missense possibly damaging 0.63
R4928:Wipi1 UTSW 11 109,470,475 (GRCm39) missense probably benign 0.04
R6964:Wipi1 UTSW 11 109,494,590 (GRCm39) missense probably benign 0.15
R7283:Wipi1 UTSW 11 109,502,137 (GRCm39) start codon destroyed probably null 0.23
R7720:Wipi1 UTSW 11 109,473,249 (GRCm39) missense probably damaging 1.00
R8755:Wipi1 UTSW 11 109,494,645 (GRCm39) missense probably damaging 1.00
R9256:Wipi1 UTSW 11 109,473,952 (GRCm39) critical splice donor site probably null
Z1177:Wipi1 UTSW 11 109,494,627 (GRCm39) missense probably damaging 1.00
Z1177:Wipi1 UTSW 11 109,488,024 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACAGATTGTGTTTGCCCTTCC -3'
(R):5'- TGTAGCCAGAACACTGTGC -3'

Sequencing Primer
(F):5'- ACCAGTCATGTGTGCTGACTGAC -3'
(R):5'- AGAACACTGTGCTCGGGC -3'
Posted On 2019-11-26