Incidental Mutation 'IGL01777:Impa1'
ID154112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Impa1
Ensembl Gene ENSMUSG00000027531
Gene Nameinositol (myo)-1(or 4)-monophosphatase 1
Synonymslithium-sensitive myo-inositol monophosphatase A1, 2900059K10Rik, 2610002K09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.144) question?
Stock #IGL01777
Quality Score
Status
Chromosome3
Chromosomal Location10311956-10331439 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 10322948 bp
ZygosityHeterozygous
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]
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: 60,024,784 V240A possibly damaging Het
Aftph A T 11: 20,726,554 C352S possibly damaging Het
Cand2 T C 6: 115,792,857 V876A probably damaging Het
Ccar1 T C 10: 62,780,577 I125V possibly damaging Het
Celsr3 A T 9: 108,835,942 M1858L probably benign Het
Csmd3 A T 15: 47,698,198 N2134K probably benign Het
Dhx29 A G 13: 112,930,872 I96V probably benign Het
Dst A G 1: 34,199,397 T3727A probably benign Het
Elavl4 T A 4: 110,206,661 R272W probably null Het
Eno2 C T 6: 124,766,637 G113D probably damaging Het
Esf1 A C 2: 140,157,172 probably null Het
Frmd4b T C 6: 97,295,944 D783G probably benign Het
Gm13023 T G 4: 143,795,118 C435G possibly damaging Het
Grin2a C T 16: 9,644,130 V713I probably benign Het
Kcnt2 A G 1: 140,595,998 T1079A probably benign Het
Kmt2a A G 9: 44,849,005 S549P probably damaging Het
Magoh C A 4: 107,883,176 Q86K probably benign Het
Moxd1 C A 10: 24,252,596 T182K probably benign Het
Olfr476 A G 7: 107,967,502 Y35C probably damaging Het
Rab3b A T 4: 108,929,410 Q119L probably damaging Het
Snap47 T A 11: 59,421,651 probably null Het
Taar3 A G 10: 23,950,005 R150G probably benign Het
Tas2r102 C T 6: 132,762,852 T241I probably damaging Het
Tas2r114 C T 6: 131,689,701 W121* probably null Het
Trak1 G A 9: 121,431,560 probably null Het
Ubn1 T C 16: 5,072,149 V426A possibly damaging Het
Vmn1r40 T C 6: 89,714,222 L7P probably benign Het
Vmn2r43 T C 7: 8,255,273 I314V probably damaging Het
Vrtn T G 12: 84,648,922 S149A probably benign Het
Other mutations in Impa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02411:Impa1 APN 3 10322958 missense possibly damaging 0.90
IGL02733:Impa1 APN 3 10328965 missense probably benign
IGL03183:Impa1 APN 3 10322994 missense probably damaging 1.00
lofty UTSW 3 10329004 missense probably null 1.00
R0166:Impa1 UTSW 3 10328960 missense probably damaging 0.99
R0782:Impa1 UTSW 3 10322896 splice site probably benign
R1645:Impa1 UTSW 3 10328441 missense possibly damaging 0.79
R3196:Impa1 UTSW 3 10329015 splice site probably null
R3905:Impa1 UTSW 3 10316034 missense probably benign
R4953:Impa1 UTSW 3 10315280 missense probably damaging 1.00
R5495:Impa1 UTSW 3 10326170 missense probably benign 0.08
R5884:Impa1 UTSW 3 10316224 missense probably damaging 1.00
R5972:Impa1 UTSW 3 10329004 missense probably null 1.00
X0054:Impa1 UTSW 3 10316100 splice site probably null
Posted On2014-02-04