Mutagenetix > Incidental Mutation

Incidental Mutation 'R3196:Impa1'

267625

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

040617-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3196 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

10377016-10396499 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 10394075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000068174
Gene: ENSMUSG00000027531

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 null
Transcript: ENSMUST00000118410

SMART Domains

Protein: ENSMUSP00000113860
Gene: ENSMUSG00000027531

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

Predicted Effect

probably null
Transcript: ENSMUST00000128912

SMART Domains

Protein: ENSMUSP00000116088
Gene: ENSMUSG00000027531

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

Predicted Effect

probably null
Transcript: ENSMUST00000191670

SMART Domains

Protein: ENSMUSP00000141345
Gene: ENSMUSG00000027531

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

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,132 (GRCm39)	N158K	probably benign	Het
Acnat1	G	C	4: 49,447,457 (GRCm39)	P357A	probably damaging	Het
Akap6	T	A	12: 53,119,240 (GRCm39)	C1102*	probably null	Het
Amelx	T	C	X: 167,964,826 (GRCm39)		probably benign	Het
Brap	G	A	5: 121,803,259 (GRCm39)	V136I	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Csgalnact1	TGG	TG	8: 68,913,737 (GRCm39)		probably null	Het
Csk	A	T	9: 57,537,556 (GRCm39)	C119*	probably null	Het
Dcbld1	T	C	10: 52,195,587 (GRCm39)	L265P	probably damaging	Het
Desi1	T	A	15: 81,887,976 (GRCm39)	K31N	probably damaging	Het
Dpy19l2	C	A	9: 24,607,285 (GRCm39)	G59C	probably damaging	Het
Eif2b5	T	C	16: 20,324,272 (GRCm39)	V498A	probably benign	Het
Epdr1	A	T	13: 19,778,815 (GRCm39)	Y94N	probably damaging	Het
Fat1	T	C	8: 45,404,905 (GRCm39)	V552A	probably benign	Het
Focad	A	G	4: 88,325,588 (GRCm39)	E151G	possibly damaging	Het
Frem1	A	G	4: 82,932,351 (GRCm39)	F117L	probably damaging	Het
Frem2	A	T	3: 53,444,752 (GRCm39)	Y2460N	probably damaging	Het
Gm3604	A	T	13: 62,517,868 (GRCm39)	C163*	probably null	Het
Gpalpp1	A	C	14: 76,336,063 (GRCm39)		probably null	Het
Grid2ip	A	G	5: 143,373,933 (GRCm39)	I858V	probably damaging	Het
Grin2b	ATTGTTGT	ATTGT	6: 135,709,453 (GRCm39)		probably benign	Het
Hps4	A	G	5: 112,512,429 (GRCm39)	T182A	probably damaging	Het
Kcnh3	T	C	15: 99,131,862 (GRCm39)	S606P	probably damaging	Het
Kif23	T	A	9: 61,839,193 (GRCm39)	R301*	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lcp2	G	T	11: 34,040,670 (GRCm39)	A529S	probably benign	Het
Lhx8	G	A	3: 154,035,925 (GRCm39)	A22V	probably benign	Het
Lin28a	A	T	4: 133,735,235 (GRCm39)	S134T	possibly damaging	Het
Med27	T	A	2: 29,236,882 (GRCm39)	V9E	possibly damaging	Het
Mmp7	C	A	9: 7,692,219 (GRCm39)	S31R	probably benign	Het
Mtcl1	T	G	17: 66,650,829 (GRCm39)	E1545D	probably benign	Het
Muc16	A	G	9: 18,409,126 (GRCm39)	Y187H	probably damaging	Het
Myo3a	G	T	2: 22,404,679 (GRCm39)	K678N	possibly damaging	Het
Nsmce1	T	C	7: 125,085,645 (GRCm39)	M15V	probably benign	Het
Nxpe3	A	T	16: 55,670,078 (GRCm39)	N342K	probably damaging	Het
Or7g25	A	G	9: 19,160,495 (GRCm39)	S67P	probably damaging	Het
Or8g2	T	A	9: 39,821,756 (GRCm39)	I219N	probably damaging	Het
Pcdhb9	A	G	18: 37,534,663 (GRCm39)	N219S	probably benign	Het
Pck2	T	A	14: 55,781,449 (GRCm39)	V190E	probably damaging	Het
Pde4b	G	A	4: 102,456,840 (GRCm39)	A429T	probably damaging	Het
Phf1	T	C	17: 27,153,429 (GRCm39)	V54A	probably damaging	Het
Pla2r1	T	C	2: 60,353,127 (GRCm39)	E278G	probably damaging	Het
Ptges3	G	T	10: 127,908,016 (GRCm39)	R122L	probably benign	Het
Rnpepl1	C	T	1: 92,844,881 (GRCm39)	T391I	probably damaging	Het
Rps6kb1	G	A	11: 86,397,633 (GRCm39)	A404V	probably benign	Het
Rrm2b	T	C	15: 37,945,391 (GRCm39)		probably null	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Skint9	T	G	4: 112,248,148 (GRCm39)	I199L	probably benign	Het
Slc9b2	G	T	3: 135,042,290 (GRCm39)	R523L	probably benign	Het
Slco1c1	T	A	6: 141,477,174 (GRCm39)		probably null	Het
Stox2	T	C	8: 47,645,865 (GRCm39)	T532A	probably damaging	Het
Tbcel	A	G	9: 42,327,248 (GRCm39)	L385P	probably damaging	Het
Tle5	A	G	10: 81,401,474 (GRCm39)	N181D	probably benign	Het
Tmem268	G	A	4: 63,496,149 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top3a	G	A	11: 60,650,182 (GRCm39)	T122M	probably damaging	Het
Trav7n-4	G	A	14: 53,329,088 (GRCm39)	V33I	probably benign	Het
Ttn	T	G	2: 76,539,551 (GRCm39)	E26151D	possibly damaging	Het
Ttn	C	T	2: 76,687,228 (GRCm39)		probably benign	Het
Tyk2	A	G	9: 21,035,328 (GRCm39)	C195R	possibly damaging	Het
Ugt2b38	T	C	5: 87,558,078 (GRCm39)	K528E	probably damaging	Het
Usp28	T	A	9: 48,937,125 (GRCm39)	D483E	probably benign	Het
Vldlr	A	G	19: 27,220,554 (GRCm39)	D598G	probably damaging	Het
Vmn1r51	T	G	6: 90,106,498 (GRCm39)	I138S	probably damaging	Het
Vps13b	G	A	15: 35,869,541 (GRCm39)	A2682T	probably damaging	Het
Wac	T	A	18: 7,917,568 (GRCm39)	V346E	probably damaging	Het
Zdbf2	T	C	1: 63,347,579 (GRCm39)	V1986A	possibly damaging	Het

Other mutations in Impa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- GCACATGTAGATTACTCAAAGCATG -3'
(R):5'- CACTTGGGAGACAGCTTCATAG -3'

Sequencing Primer
(F):5'- GCATGCTTTGTTGACCAAAACTGC -3'
(R):5'- TGGGCTATGAGACACTGACTC -3'

Posted On

2015-02-18