Incidental Mutation 'IGL02605:Minpp1'
ID 300235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Minpp1
Ensembl Gene ENSMUSG00000024896
Gene Name multiple inositol polyphosphate histidine phosphatase 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02605
Quality Score
Status
Chromosome 19
Chromosomal Location 32463169-32492764 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32475815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 316 (Y316F)
Ref Sequence ENSEMBL: ENSMUSP00000025827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025827]
AlphaFold Q9Z2L6
Predicted Effect possibly damaging
Transcript: ENSMUST00000025827
AA Change: Y316F

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025827
Gene: ENSMUSG00000024896
AA Change: Y316F

DomainStartEndE-ValueType
low complexity region 9 26 N/A INTRINSIC
Pfam:His_Phos_2 81 433 4.5e-37 PFAM
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 multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to 2-phosphoglycerate; an activity formerly thought to be exclusive to 2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal chondrocyte and bone development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,547,602 (GRCm39) Y992F probably benign Het
Adgrg6 T A 10: 14,342,976 (GRCm39) N324Y probably damaging Het
Ampd3 T C 7: 110,394,965 (GRCm39) F305L probably benign Het
Ankrd35 A G 3: 96,588,388 (GRCm39) probably null Het
Api5 A G 2: 94,260,064 (GRCm39) I64T possibly damaging Het
Arhgap21 A G 2: 20,860,399 (GRCm39) I1165T probably damaging Het
Bdp1 T C 13: 100,214,623 (GRCm39) probably null Het
Capn3 T A 2: 120,326,518 (GRCm39) I570N probably damaging Het
Catsperg2 T C 7: 29,418,990 (GRCm39) H232R possibly damaging Het
Clcn7 T C 17: 25,365,792 (GRCm39) L156P possibly damaging Het
Cpa3 C A 3: 20,276,376 (GRCm39) V286F probably benign Het
Csrnp3 G A 2: 65,853,153 (GRCm39) C527Y probably damaging Het
Dock5 A T 14: 68,065,887 (GRCm39) V372E probably benign Het
Elmo1 T C 13: 20,789,372 (GRCm39) L696P probably damaging Het
Fam91a1 T C 15: 58,303,045 (GRCm39) probably benign Het
Gm12695 T A 4: 96,650,988 (GRCm39) D155V probably null Het
Hspa4l A G 3: 40,736,055 (GRCm39) I559V probably benign Het
Kdm1a G T 4: 136,278,348 (GRCm39) probably benign Het
Lrrc8d A T 5: 105,974,683 (GRCm39) noncoding transcript Het
Neto2 T C 8: 86,390,064 (GRCm39) probably benign Het
Nrxn2 T A 19: 6,500,610 (GRCm39) D277E probably benign Het
Ola1 A G 2: 72,972,644 (GRCm39) probably benign Het
Or4k48 A G 2: 111,475,850 (GRCm39) V164A probably benign Het
Or51r1 T C 7: 102,228,602 (GRCm39) I300T probably damaging Het
Or8c15 T A 9: 38,120,532 (GRCm39) M61K probably damaging Het
Pam A G 1: 97,768,064 (GRCm39) V722A possibly damaging Het
Pfdn6 T C 17: 34,158,077 (GRCm39) Y90C probably benign Het
Pkhd1 T A 1: 20,621,126 (GRCm39) H844L possibly damaging Het
Plk5 G A 10: 80,198,896 (GRCm39) V422M probably damaging Het
Psmc1 G T 12: 100,085,386 (GRCm39) R249L probably damaging Het
Ptpro C T 6: 137,357,316 (GRCm39) P269L probably benign Het
Ralgapa1 G T 12: 55,759,450 (GRCm39) H1480Q possibly damaging Het
Rars1 G A 11: 35,715,353 (GRCm39) probably benign Het
Rbm48 G A 5: 3,640,600 (GRCm39) R260C possibly damaging Het
Smarcc1 C T 9: 110,051,068 (GRCm39) H963Y possibly damaging Het
Spef2 T C 15: 9,725,238 (GRCm39) E230G probably damaging Het
Spg11 A G 2: 121,922,741 (GRCm39) S903P probably benign Het
Tas2r122 T C 6: 132,688,572 (GRCm39) Y107C probably damaging Het
Tpm3 C A 3: 89,995,753 (GRCm39) N204K probably benign Het
Wdr36 T C 18: 32,985,044 (GRCm39) I450T possibly damaging Het
Other mutations in Minpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0442:Minpp1 UTSW 19 32,471,348 (GRCm39) missense possibly damaging 0.90
R4887:Minpp1 UTSW 19 32,475,784 (GRCm39) missense probably benign 0.19
R5795:Minpp1 UTSW 19 32,491,557 (GRCm39) missense probably damaging 1.00
R7813:Minpp1 UTSW 19 32,468,803 (GRCm39) missense probably damaging 0.97
R7940:Minpp1 UTSW 19 32,463,359 (GRCm39) missense possibly damaging 0.91
R8060:Minpp1 UTSW 19 32,471,303 (GRCm39) missense probably damaging 0.97
R8784:Minpp1 UTSW 19 32,491,396 (GRCm39) missense probably benign 0.05
R8817:Minpp1 UTSW 19 32,463,747 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16