Incidental Mutation 'IGL01777:Impa1'
ID 154112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Impa1
Ensembl Gene ENSMUSG00000027531
Gene Name inositol (myo)-1(or 4)-monophosphatase 1
Synonyms lithium-sensitive myo-inositol monophosphatase A1, 2900059K10Rik, 2610002K09Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01777
Quality Score
Status
Chromosome 3
Chromosomal Location 10377016-10396499 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 10388008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 138 (G138D)
Ref Sequence ENSEMBL: ENSMUSP00000141345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065938] [ENSMUST00000118410] [ENSMUST00000128912] [ENSMUST00000191670] [ENSMUST00000192603]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000065938
AA Change: G138D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068174
Gene: ENSMUSG00000027531
AA Change: G138D

DomainStartEndE-ValueType
Pfam:Inositol_P 5 271 1.5e-86 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118410
AA Change: G138D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113860
Gene: ENSMUSG00000027531
AA Change: G138D

DomainStartEndE-ValueType
Pfam:Inositol_P 5 271 7.7e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128912
SMART Domains Protein: ENSMUSP00000116088
Gene: ENSMUSG00000027531

DomainStartEndE-ValueType
Pfam:Inositol_P 19 90 4.4e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000191670
AA Change: G138D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141345
Gene: ENSMUSG00000027531
AA Change: G138D

DomainStartEndE-ValueType
Pfam:Inositol_P 5 180 4.7e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192603
SMART Domains Protein: ENSMUSP00000141735
Gene: ENSMUSG00000103392

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 69 85 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 an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Dec 2014]
PHENOTYPE: Most mice homozygous for a knock-out allele die between E9.5 and E10.5 with surviving mice exhibiting hyperactivity, increased rearing, and increased susceptibility to pilocarpine-induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 59,932,205 (GRCm39) V240A possibly damaging Het
Aftph A T 11: 20,676,554 (GRCm39) C352S possibly damaging Het
Cand2 T C 6: 115,769,818 (GRCm39) V876A probably damaging Het
Ccar1 T C 10: 62,616,356 (GRCm39) I125V possibly damaging Het
Celsr3 A T 9: 108,713,141 (GRCm39) M1858L probably benign Het
Csmd3 A T 15: 47,561,594 (GRCm39) N2134K probably benign Het
Dhx29 A G 13: 113,067,406 (GRCm39) I96V probably benign Het
Dst A G 1: 34,238,478 (GRCm39) T3727A probably benign Het
Elavl4 T A 4: 110,063,858 (GRCm39) probably null Het
Eno2 C T 6: 124,743,600 (GRCm39) G113D probably damaging Het
Esf1 A C 2: 139,999,092 (GRCm39) probably null Het
Frmd4b T C 6: 97,272,905 (GRCm39) D783G probably benign Het
Grin2a C T 16: 9,461,994 (GRCm39) V713I probably benign Het
Kcnt2 A G 1: 140,523,736 (GRCm39) T1079A probably benign Het
Kmt2a A G 9: 44,760,302 (GRCm39) S549P probably damaging Het
Magoh C A 4: 107,740,373 (GRCm39) Q86K probably benign Het
Moxd1 C A 10: 24,128,494 (GRCm39) T182K probably benign Het
Or5p55 A G 7: 107,566,709 (GRCm39) Y35C probably damaging Het
Pramel25 T G 4: 143,521,688 (GRCm39) C435G possibly damaging Het
Rab3b A T 4: 108,786,607 (GRCm39) Q119L probably damaging Het
Snap47 T A 11: 59,312,477 (GRCm39) probably null Het
Taar3 A G 10: 23,825,903 (GRCm39) R150G probably benign Het
Tas2r102 C T 6: 132,739,815 (GRCm39) T241I probably damaging Het
Tas2r114 C T 6: 131,666,664 (GRCm39) W121* probably null Het
Trak1 G A 9: 121,260,626 (GRCm39) probably null Het
Ubn1 T C 16: 4,890,013 (GRCm39) V426A possibly damaging Het
Vmn1r40 T C 6: 89,691,204 (GRCm39) L7P probably benign Het
Vmn2r43 T C 7: 8,258,272 (GRCm39) I314V probably damaging Het
Vrtn T G 12: 84,695,696 (GRCm39) S149A probably benign Het
Other mutations in Impa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02411:Impa1 APN 3 10,388,018 (GRCm39) missense possibly damaging 0.90
IGL02733:Impa1 APN 3 10,394,025 (GRCm39) missense probably benign
IGL03183:Impa1 APN 3 10,388,054 (GRCm39) missense probably damaging 1.00
lofty UTSW 3 10,394,064 (GRCm39) start codon destroyed probably null 1.00
olympian UTSW 3 10,380,340 (GRCm39) missense probably damaging 1.00
R0166:Impa1 UTSW 3 10,394,020 (GRCm39) missense probably damaging 0.99
R0782:Impa1 UTSW 3 10,387,956 (GRCm39) splice site probably benign
R1645:Impa1 UTSW 3 10,393,501 (GRCm39) missense possibly damaging 0.79
R3196:Impa1 UTSW 3 10,394,075 (GRCm39) splice site probably null
R3905:Impa1 UTSW 3 10,381,094 (GRCm39) missense probably benign
R4953:Impa1 UTSW 3 10,380,340 (GRCm39) missense probably damaging 1.00
R5495:Impa1 UTSW 3 10,391,230 (GRCm39) missense probably benign 0.08
R5884:Impa1 UTSW 3 10,381,284 (GRCm39) missense probably damaging 1.00
R5972:Impa1 UTSW 3 10,394,064 (GRCm39) start codon destroyed probably null 1.00
R6927:Impa1 UTSW 3 10,380,348 (GRCm39) missense probably benign 0.00
R7605:Impa1 UTSW 3 10,389,147 (GRCm39) missense probably damaging 0.96
R7801:Impa1 UTSW 3 10,386,727 (GRCm39) missense probably benign
R8086:Impa1 UTSW 3 10,387,988 (GRCm39) missense probably benign 0.02
R8190:Impa1 UTSW 3 10,386,688 (GRCm39) missense possibly damaging 0.48
R9685:Impa1 UTSW 3 10,393,430 (GRCm39) missense probably benign 0.00
X0054:Impa1 UTSW 3 10,381,160 (GRCm39) splice site probably null
Z1177:Impa1 UTSW 3 10,381,134 (GRCm39) missense probably benign 0.03
Posted On 2014-02-04