Incidental Mutation 'R5972:Impa1'
ID 471448
Institutional Source Beutler Lab
Gene Symbol Impa1
Ensembl Gene ENSMUSG00000027531
Gene Name inositol (myo)-1(or 4)-monophosphatase 1
Synonyms lithium-sensitive myo-inositol monophosphatase A1, 2900059K10Rik, 2610002K09Rik
MMRRC Submission 044155-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5972 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 10377016-10396499 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 10394064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000141345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065938] [ENSMUST00000078748] [ENSMUST00000118410] [ENSMUST00000128912] [ENSMUST00000191670] [ENSMUST00000192603]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000065938
AA Change: M1T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068174
Gene: ENSMUSG00000027531
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Inositol_P 5 271 1.5e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078748
SMART Domains Protein: ENSMUSP00000077808
Gene: ENSMUSG00000058921

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:SBF 144 328 1.1e-34 PFAM
transmembrane domain 336 358 N/A INTRINSIC
transmembrane domain 365 384 N/A INTRINSIC
transmembrane domain 394 416 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118410
AA Change: M1T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113860
Gene: ENSMUSG00000027531
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Inositol_P 5 271 7.7e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128912
AA Change: M15T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116088
Gene: ENSMUSG00000027531
AA Change: M15T

DomainStartEndE-ValueType
Pfam:Inositol_P 19 90 4.4e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000191670
AA Change: M1T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141345
Gene: ENSMUSG00000027531
AA Change: M1T

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
Meta Mutation Damage Score 0.7814 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 100% (51/51)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T A 6: 58,649,070 (GRCm39) M305K probably benign Het
Accs G T 2: 93,669,572 (GRCm39) H283N probably damaging Het
Actl6b A T 5: 137,564,818 (GRCm39) H283L possibly damaging Het
Adgra1 T C 7: 139,425,583 (GRCm39) L32P probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arfgef2 T C 2: 166,733,756 (GRCm39) I1672T probably damaging Het
Bambi T A 18: 3,512,354 (GRCm39) V246E probably damaging Het
BC048679 A G 7: 81,145,479 (GRCm39) L29P probably damaging Het
Bmal2 A G 6: 146,711,187 (GRCm39) M64V probably damaging Het
Camk4 T C 18: 33,240,979 (GRCm39) L92P probably damaging Het
Ddx11 C A 17: 66,455,085 (GRCm39) Q655K probably benign Het
Ddx52 A G 11: 83,844,051 (GRCm39) probably null Het
Entrep3 T A 3: 89,093,115 (GRCm39) V213D probably damaging Het
Eps8l3 T C 3: 107,791,763 (GRCm39) probably null Het
Erap1 T A 13: 74,810,423 (GRCm39) probably null Het
Flg T A 3: 93,186,849 (GRCm39) N100K probably benign Het
Grip2 A T 6: 91,784,262 (GRCm39) V13E probably benign Het
Iars1 T C 13: 49,863,108 (GRCm39) V520A possibly damaging Het
Ip6k3 T C 17: 27,368,934 (GRCm39) T179A possibly damaging Het
Krt87 T A 15: 101,385,467 (GRCm39) M302L probably benign Het
Lrp8 T C 4: 107,726,267 (GRCm39) Y899H probably damaging Het
Lrpprc A T 17: 85,020,250 (GRCm39) I1145N possibly damaging Het
Mapk11 A T 15: 89,028,387 (GRCm39) D324E probably benign Het
Melk C T 4: 44,351,007 (GRCm39) T516I probably benign Het
Mia2 C T 12: 59,193,723 (GRCm39) H130Y probably damaging Het
Mroh5 C T 15: 73,662,568 (GRCm39) probably null Het
Ncam1 T C 9: 49,418,829 (GRCm39) T824A possibly damaging Het
Neurog1 T C 13: 56,399,211 (GRCm39) S179G probably damaging Het
Ntrk2 T A 13: 58,985,633 (GRCm39) L79Q probably damaging Het
Patj T A 4: 98,457,290 (GRCm39) M46K probably damaging Het
Pdcd6ip T C 9: 113,491,366 (GRCm39) K626E probably benign Het
Pdss2 T A 10: 43,174,922 (GRCm39) Y143N probably damaging Het
Pkhd1l1 G A 15: 44,408,812 (GRCm39) S2433N probably damaging Het
Plekha5 A G 6: 140,518,639 (GRCm39) T309A possibly damaging Het
Prdm4 C T 10: 85,743,365 (GRCm39) V297M probably damaging Het
Rab15 T C 12: 76,847,377 (GRCm39) Y148C probably damaging Het
Ryr3 A T 2: 112,664,409 (GRCm39) N1627K probably damaging Het
Scn1a G T 2: 66,181,454 (GRCm39) A23E possibly damaging Het
Smtn A T 11: 3,483,486 (GRCm39) I30N probably damaging Het
Sympk A G 7: 18,780,749 (GRCm39) K751E probably benign Het
Usp24 C T 4: 106,225,264 (GRCm39) P632L probably damaging Het
Vmn2r106 A G 17: 20,498,738 (GRCm39) I391T probably benign Het
Vmn2r54 G A 7: 12,349,279 (GRCm39) P768S probably damaging Het
Vmn2r54 C T 7: 12,369,874 (GRCm39) C63Y probably damaging Het
Zfhx3 T G 8: 109,677,483 (GRCm39) C2844W possibly damaging Het
Other mutations in Impa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01777:Impa1 APN 3 10,388,008 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGGAAATCAGCCATTTTCACTG -3'
(R):5'- CACTTGGGAGACAGCTTCATAG -3'

Sequencing Primer
(F):5'- AAATCAGCCATTTTCACTGTATTTAC -3'
(R):5'- TGGGCTATGAGACACTGACTC -3'
Posted On 2017-03-31