Incidental Mutation 'IGL03343:Inpp1'
ID 417317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inpp1
Ensembl Gene ENSMUSG00000026102
Gene Name inositol polyphosphate-1-phosphatase
Synonyms 2300002C06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03343
Quality Score
Status
Chromosome 1
Chromosomal Location 52824586-52856847 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52838486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 54 (D54E)
Ref Sequence ENSEMBL: ENSMUSP00000124890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027271] [ENSMUST00000159725] [ENSMUST00000162576] [ENSMUST00000177279]
AlphaFold P49442
Predicted Effect probably damaging
Transcript: ENSMUST00000027271
AA Change: D54E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027271
Gene: ENSMUSG00000026102
AA Change: D54E

DomainStartEndE-ValueType
Pfam:Inositol_P 56 378 5.4e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159607
Predicted Effect probably damaging
Transcript: ENSMUST00000159725
AA Change: D54E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123977
Gene: ENSMUSG00000026102
AA Change: D54E

DomainStartEndE-ValueType
PDB:1INP|A 1 80 4e-36 PDB
SCOP:d1inp__ 1 80 8e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162351
Predicted Effect probably damaging
Transcript: ENSMUST00000162576
AA Change: D54E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124890
Gene: ENSMUSG00000026102
AA Change: D54E

DomainStartEndE-ValueType
PDB:1INP|A 1 90 8e-43 PDB
SCOP:d1inp__ 1 90 5e-39 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000177279
AA Change: D54E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135225
Gene: ENSMUSG00000026102
AA Change: D54E

DomainStartEndE-ValueType
PDB:1INP|A 1 68 8e-27 PDB
SCOP:d1inp__ 1 68 1e-31 SMART
low complexity region 71 90 N/A INTRINSIC
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 the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous for a targeted allele exhibit decreased susceptibility to bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,725,064 (GRCm39) H795R probably damaging Het
Adgrl2 A T 3: 148,565,016 (GRCm39) I188K probably damaging Het
Adgrv1 A G 13: 81,431,507 (GRCm39) Y5974H probably damaging Het
Angpt4 A G 2: 151,778,623 (GRCm39) T336A probably damaging Het
Arhgap30 C A 1: 171,236,662 (GRCm39) T1012N probably damaging Het
Asl A T 5: 130,040,908 (GRCm39) Y178N probably damaging Het
Brd1 C A 15: 88,591,454 (GRCm39) L714F possibly damaging Het
Ccdc47 A G 11: 106,095,788 (GRCm39) S303P probably damaging Het
Cdcp3 T A 7: 130,848,420 (GRCm39) I858N probably damaging Het
Cdk16 A G X: 20,561,998 (GRCm39) K264E probably damaging Het
Cenpc1 A T 5: 86,164,181 (GRCm39) F813L probably damaging Het
Cfp A C X: 20,794,248 (GRCm39) F291C possibly damaging Het
Chordc1 T G 9: 18,223,762 (GRCm39) F276V probably damaging Het
Clic4 C T 4: 134,945,889 (GRCm39) R176H possibly damaging Het
Fcer1a T G 1: 173,053,040 (GRCm39) N52T possibly damaging Het
Fndc7 A T 3: 108,774,624 (GRCm39) C545S probably damaging Het
Frem2 T C 3: 53,559,674 (GRCm39) D1611G probably damaging Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
Gga3 A T 11: 115,483,312 (GRCm39) N82K probably damaging Het
Gm43638 G A 5: 87,608,484 (GRCm39) P452S possibly damaging Het
Gpn1 T C 5: 31,662,309 (GRCm39) S244P probably damaging Het
Hspa12a T C 19: 58,787,828 (GRCm39) S665G probably benign Het
Htt A G 5: 34,983,385 (GRCm39) I995V probably benign Het
Iars1 A T 13: 49,878,223 (GRCm39) I916L probably benign Het
Ice1 C A 13: 70,751,048 (GRCm39) L1679F probably damaging Het
Irf2bpl T C 12: 86,929,713 (GRCm39) E320G possibly damaging Het
Itprid1 T G 6: 55,945,569 (GRCm39) D763E probably damaging Het
Kcnn2 T C 18: 45,810,026 (GRCm39) V421A probably damaging Het
Micu2 A G 14: 58,154,768 (GRCm39) V419A probably benign Het
Nek9 C T 12: 85,350,383 (GRCm39) C897Y probably damaging Het
Ofcc1 A C 13: 40,226,140 (GRCm39) H797Q probably benign Het
Or12d17 G A 17: 37,777,300 (GRCm39) D68N probably damaging Het
Or2y16 C A 11: 49,335,070 (GRCm39) H131N probably damaging Het
Or5m12 T C 2: 85,735,285 (GRCm39) T38A probably benign Het
Or6c69c T G 10: 129,911,125 (GRCm39) L282R probably damaging Het
Pakap C T 4: 57,688,502 (GRCm39) T115M probably damaging Het
Papss1 G A 3: 131,288,950 (GRCm39) G151S probably benign Het
Plxnb1 A G 9: 108,943,780 (GRCm39) T1956A probably damaging Het
Pomt1 A G 2: 32,143,724 (GRCm39) probably benign Het
Ppfibp2 T A 7: 107,337,126 (GRCm39) Y570* probably null Het
Ppp1r9a A G 6: 5,046,015 (GRCm39) E493G probably damaging Het
Ptk2b A G 14: 66,406,870 (GRCm39) F621L probably benign Het
Ptpn13 G T 5: 103,702,816 (GRCm39) D1261Y possibly damaging Het
Ptprd C T 4: 75,977,966 (GRCm39) G181D probably damaging Het
Rabgap1l T C 1: 160,270,853 (GRCm39) T645A probably benign Het
Slc2a7 T C 4: 150,252,797 (GRCm39) I479T probably damaging Het
Smc3 A G 19: 53,602,273 (GRCm39) N40S probably damaging Het
Spata31 A T 13: 65,067,587 (GRCm39) D83V probably benign Het
Sptb C T 12: 76,630,330 (GRCm39) probably benign Het
Ssc4d A T 5: 135,990,028 (GRCm39) C493* probably null Het
Styxl2 T C 1: 165,927,017 (GRCm39) D865G probably benign Het
Ubr2 C A 17: 47,262,844 (GRCm39) V1256L probably benign Het
Ubr3 T C 2: 69,803,490 (GRCm39) probably benign Het
Vmn2r105 C T 17: 20,446,631 (GRCm39) W456* probably null Het
Vmn2r24 T A 6: 123,793,070 (GRCm39) I799N probably damaging Het
Vps13b G A 15: 35,917,316 (GRCm39) G3720D possibly damaging Het
Other mutations in Inpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0344:Inpp1 UTSW 1 52,838,513 (GRCm39) missense probably damaging 1.00
R1356:Inpp1 UTSW 1 52,836,215 (GRCm39) missense possibly damaging 0.95
R1465:Inpp1 UTSW 1 52,829,253 (GRCm39) missense probably benign
R1465:Inpp1 UTSW 1 52,829,253 (GRCm39) missense probably benign
R1907:Inpp1 UTSW 1 52,828,829 (GRCm39) makesense probably null
R1954:Inpp1 UTSW 1 52,833,788 (GRCm39) missense probably damaging 1.00
R2033:Inpp1 UTSW 1 52,829,332 (GRCm39) missense possibly damaging 0.71
R2104:Inpp1 UTSW 1 52,838,577 (GRCm39) missense probably damaging 1.00
R2224:Inpp1 UTSW 1 52,829,290 (GRCm39) missense probably benign 0.07
R3508:Inpp1 UTSW 1 52,838,550 (GRCm39) missense probably damaging 1.00
R4682:Inpp1 UTSW 1 52,833,760 (GRCm39) missense probably benign 0.00
R5252:Inpp1 UTSW 1 52,833,706 (GRCm39) missense probably benign 0.00
R5590:Inpp1 UTSW 1 52,833,820 (GRCm39) missense probably damaging 0.96
R6354:Inpp1 UTSW 1 52,836,224 (GRCm39) missense probably damaging 1.00
R9196:Inpp1 UTSW 1 52,833,778 (GRCm39) missense probably damaging 1.00
R9255:Inpp1 UTSW 1 52,829,306 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02