Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02733:Impa1'

305535

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02733

Quality Score

Status

Chromosome

Chromosomal Location

10311956-10331439 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10328965 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 14 (I14T)

Ref Sequence

ENSEMBL: ENSMUSP00000141345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065938] [ENSMUST00000078748] [ENSMUST00000118410] [ENSMUST00000128912] [ENSMUST00000191670] [ENSMUST00000192603]

Predicted Effect

probably benign
Transcript: ENSMUST00000065938
AA Change: I14T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068174
Gene: ENSMUSG00000027531
AA Change: I14T

Domain	Start	End	E-Value	Type
Pfam:Inositol_P	5	271	1.5e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078748

SMART Domains

Protein: ENSMUSP00000077808
Gene: ENSMUSG00000058921

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000118410
AA Change: I14T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113860
Gene: ENSMUSG00000027531
AA Change: I14T

Domain	Start	End	E-Value	Type
Pfam:Inositol_P	5	271	7.7e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128912
AA Change: I28T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116088
Gene: ENSMUSG00000027531
AA Change: I28T

Domain	Start	End	E-Value	Type
Pfam:Inositol_P	19	90	4.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191670
AA Change: I14T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141345
Gene: ENSMUSG00000027531
AA Change: I14T

Domain	Start	End	E-Value	Type
Pfam:Inositol_P	5	180	4.7e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192603

SMART Domains

Protein: ENSMUSP00000141735
Gene: ENSMUSG00000103392

Domain	Start	End	E-Value	Type
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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	T	A	4: 49,447,793	T245S	probably benign	Het
Agl	T	C	3: 116,780,997	I718V	probably benign	Het
Cbs	T	A	17: 31,625,031	N209Y	probably benign	Het
Cd163	T	C	6: 124,325,341	C955R	probably damaging	Het
Dnajb3	A	G	1: 88,204,940		probably benign	Het
Dopey2	G	A	16: 93,739,191	R59Q	possibly damaging	Het
Dtx1	A	G	5: 120,681,435	L566P	probably damaging	Het
Fam198a	A	G	9: 121,965,028	R83G	probably benign	Het
Fgf14	G	T	14: 123,983,801	P197Q	probably damaging	Het
Gcc1	G	A	6: 28,420,662	Q66*	probably null	Het
Gypc	T	C	18: 32,559,826		probably benign	Het
Helz2	G	A	2: 181,235,026	A1225V	probably benign	Het
Herc1	A	G	9: 66,450,992	T2452A	probably benign	Het
Hoxc4	A	G	15: 103,034,726	I2V	probably benign	Het
Itih1	T	A	14: 30,936,720	D400V	probably damaging	Het
Lama3	T	C	18: 12,578,127	Y3206H	probably damaging	Het
Lce1k	T	A	3: 92,806,885		probably benign	Het
Mcpt4	C	T	14: 56,060,667	M142I	probably benign	Het
Myo15b	A	G	11: 115,884,250	E2168G	probably benign	Het
Myom3	G	T	4: 135,814,303	E1402*	probably null	Het
Nfyb	G	T	10: 82,755,033	Q55K	probably damaging	Het
Nobox	T	C	6: 43,307,202	K137E	possibly damaging	Het
Pnlip	T	A	19: 58,680,788	D406E	probably benign	Het
Pole	A	T	5: 110,312,728		probably benign	Het
Ppp2r2b	T	C	18: 42,648,728	Y336C	possibly damaging	Het
Prkg1	T	C	19: 31,302,301	T178A	probably damaging	Het
Prr11	C	T	11: 87,103,545	A92T	possibly damaging	Het
Racgap1	G	T	15: 99,639,704	S67R	probably damaging	Het
Scn10a	G	A	9: 119,616,705	P1462S	probably damaging	Het
Sptbn1	T	C	11: 30,197,747	E29G	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Vmn2r72	T	A	7: 85,751,813	T133S	probably benign	Het
Zbtb20	A	G	16: 43,609,933	H269R	possibly damaging	Het
Zwilch	A	T	9: 64,146,836	N526K	probably benign	Het

Other mutations in Impa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01777:Impa1	APN	3	10322948	missense	probably damaging	1.00
IGL02411:Impa1	APN	3	10322958	missense	possibly damaging	0.90
IGL03183:Impa1	APN	3	10322994	missense	probably damaging	1.00
lofty	UTSW	3	10329004	start codon destroyed	probably null	1.00
olympian	UTSW	3	10315280	missense	probably damaging	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	start codon destroyed	probably null	1.00
R6927:Impa1	UTSW	3	10315288	missense	probably benign	0.00
R7605:Impa1	UTSW	3	10324087	missense	probably damaging	0.96
R7801:Impa1	UTSW	3	10321667	missense	probably benign
R8086:Impa1	UTSW	3	10322928	missense	probably benign	0.02
R8190:Impa1	UTSW	3	10321628	missense	possibly damaging	0.48
X0054:Impa1	UTSW	3	10316100	splice site	probably null
Z1177:Impa1	UTSW	3	10316074	missense	probably benign	0.03

Posted On

2015-04-16