Incidental Mutation 'IGL02411:Impa1'
ID292282
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: 0.146) question?
Stock #IGL02411
Quality Score
Status
Chromosome3
Chromosomal Location10311956-10331439 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 10322958 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 135 (K135E)
Ref Sequence ENSEMBL: ENSMUSP00000141345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065938] [ENSMUST00000118410] [ENSMUST00000128912] [ENSMUST00000191670] [ENSMUST00000192603]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065938
AA Change: K135E

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000068174
Gene: ENSMUSG00000027531
AA Change: K135E

DomainStartEndE-ValueType
Pfam:Inositol_P 5 271 1.5e-86 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000118410
AA Change: K135E

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113860
Gene: ENSMUSG00000027531
AA Change: K135E

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 possibly damaging
Transcript: ENSMUST00000191670
AA Change: K135E

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141345
Gene: ENSMUSG00000027531
AA Change: K135E

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 63,898,116 E65G probably benign Het
Abcc8 G A 7: 46,107,007 R1425C probably damaging Het
Adcy3 A T 12: 4,209,407 N895Y probably damaging Het
AI661453 T G 17: 47,467,338 L663R probably benign Het
Arhgef10 A T 8: 14,954,819 Y445F probably benign Het
Atrx G T X: 105,830,981 S1924R possibly damaging Het
Clca1 T C 3: 145,028,002 T58A possibly damaging Het
Clec1b A G 6: 129,401,841 Y129C probably damaging Het
Cobll1 A G 2: 65,097,740 S1080P probably damaging Het
Crb1 C A 1: 139,248,475 C590F probably damaging Het
Crim1 C T 17: 78,335,334 R494* probably null Het
Cyp3a25 A T 5: 146,001,447 probably benign Het
Dntt T A 19: 41,052,985 probably benign Het
Gjb1 T C X: 101,385,005 C280R probably damaging Het
Glp1r T A 17: 30,924,511 C174S probably damaging Het
Gm5414 A T 15: 101,627,834 Y119N probably benign Het
Gm9631 G A 11: 121,943,652 probably null Het
Gm9796 G T 11: 95,697,930 noncoding transcript Het
Gm9956 T C 10: 56,745,292 F17L unknown Het
Il1rap A T 16: 26,710,616 D396V probably damaging Het
Iqub G A 6: 24,449,811 A685V probably damaging Het
Jade3 T C X: 20,512,824 V512A probably benign Het
Kif3a C A 11: 53,570,698 P57T probably damaging Het
Kndc1 G T 7: 139,921,913 probably benign Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Maged2 G T X: 150,809,759 D343E probably benign Het
Magi2 T C 5: 19,678,709 S120P probably damaging Het
Nxph3 A T 11: 95,510,830 *253R probably null Het
Oog2 A T 4: 144,195,048 H194L probably damaging Het
Pcbd2 T G 13: 55,732,951 W40G probably benign Het
Pcdhb14 T G 18: 37,449,770 L643R possibly damaging Het
Plch1 G T 3: 63,697,756 R1576S probably damaging Het
Poln G T 5: 34,113,322 S455* probably null Het
Ppp2r1a T C 17: 20,951,334 probably benign Het
Rsu1 T G 2: 13,077,497 probably benign Het
Serpina10 A T 12: 103,616,943 M360K possibly damaging Het
Sox30 A T 11: 45,981,124 K269* probably null Het
Thbs1 T C 2: 118,114,970 V310A probably benign Het
Tie1 C A 4: 118,486,563 E61* probably null Het
Tm2d1 G T 4: 98,380,674 P62Q probably damaging Het
Tpp1 G T 7: 105,749,619 P201Q probably damaging Het
Trim13 A G 14: 61,605,149 E205G probably damaging Het
Other mutations in Impa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01777:Impa1 APN 3 10322948 missense probably damaging 1.00
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 benign
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 missense possibly damaging 0.48
Posted OnApr 16, 2015