Incidental Mutation 'IGL02605:Minpp1'
ID300235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Minpp1
Ensembl Gene ENSMUSG00000024896
Gene Namemultiple inositol polyphosphate histidine phosphatase 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02605
Quality Score
Status
Chromosome19
Chromosomal Location32485769-32515370 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 32498415 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 316 (Y316F)
Ref Sequence ENSEMBL: ENSMUSP00000025827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025827]
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: 103,717,257 Y992F probably benign Het
Adgrg6 T A 10: 14,467,232 N324Y probably damaging Het
Ampd3 T C 7: 110,795,758 F305L probably benign Het
Ankrd35 A G 3: 96,681,072 probably null Het
Api5 A G 2: 94,429,719 I64T possibly damaging Het
Arhgap21 A G 2: 20,855,588 I1165T probably damaging Het
Bdp1 T C 13: 100,078,115 probably null Het
Capn3 T A 2: 120,496,037 I570N probably damaging Het
Catsperg2 T C 7: 29,719,565 H232R possibly damaging Het
Clcn7 T C 17: 25,146,818 L156P possibly damaging Het
Cpa3 C A 3: 20,222,212 V286F probably benign Het
Csrnp3 G A 2: 66,022,809 C527Y probably damaging Het
Dock5 A T 14: 67,828,438 V372E probably benign Het
Elmo1 T C 13: 20,605,202 L696P probably damaging Het
Fam91a1 T C 15: 58,431,196 probably benign Het
Gm12695 T A 4: 96,762,751 D155V probably null Het
Hspa4l A G 3: 40,781,623 I559V probably benign Het
Kdm1a G T 4: 136,551,037 probably benign Het
Lrrc8d A T 5: 105,826,817 noncoding transcript Het
Neto2 T C 8: 85,663,435 probably benign Het
Nrxn2 T A 19: 6,450,580 D277E probably benign Het
Ola1 A G 2: 73,142,300 probably benign Het
Olfr1298 A G 2: 111,645,505 V164A probably benign Het
Olfr550 T C 7: 102,579,395 I300T probably damaging Het
Olfr893 T A 9: 38,209,236 M61K probably damaging Het
Pam A G 1: 97,840,339 V722A possibly damaging Het
Pfdn6 T C 17: 33,939,103 Y90C probably benign Het
Pkhd1 T A 1: 20,550,902 H844L possibly damaging Het
Plk5 G A 10: 80,363,062 V422M probably damaging Het
Psmc1 G T 12: 100,119,127 R249L probably damaging Het
Ptpro C T 6: 137,380,318 P269L probably benign Het
Ralgapa1 G T 12: 55,712,665 H1480Q possibly damaging Het
Rars G A 11: 35,824,526 probably benign Het
Rbm48 G A 5: 3,590,600 R260C possibly damaging Het
Smarcc1 C T 9: 110,222,000 H963Y possibly damaging Het
Spef2 T C 15: 9,725,152 E230G probably damaging Het
Spg11 A G 2: 122,092,260 S903P probably benign Het
Tas2r122 T C 6: 132,711,609 Y107C probably damaging Het
Tpm3 C A 3: 90,088,446 N204K probably benign Het
Wdr36 T C 18: 32,851,991 I450T possibly damaging Het
Other mutations in Minpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0442:Minpp1 UTSW 19 32493948 missense possibly damaging 0.90
R4887:Minpp1 UTSW 19 32498384 missense probably benign 0.19
R5795:Minpp1 UTSW 19 32514157 missense probably damaging 1.00
R7813:Minpp1 UTSW 19 32491403 missense probably damaging 0.97
R8060:Minpp1 UTSW 19 32493903 missense probably damaging 0.97
Posted On2015-04-16