Impa1 - SNV Details



 Gene Information 
Gene Name Impa1
Old Gene Names for Impa1 2900059k10rik , Ai325909 , 2610002k09rik
Gene Description inositol (myo)-1(or 4)-monophosphatase 1 [Source:MGI Symbol;Acc:MGI:1933158]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
mitochondrion; phosphate-containing compound metabolic process; cytoplasm; phosphatidylinositol biosynthetic process; signal transduction; phosphatidylinositol phosphorylation; protein homodimerization activity; inositol phosphate dephosphorylation; inositol monophosphate 1-phosphatase activity; neuronal cell body; nucleus; axon; response to lithium ion; inositol metabolic process
Homolog in other species IMPA1
Omim http://omim.org/entry/602064
Immgen Expression
HIGH(LOWER IN DC.LC.SK)
Gnf Expression
MEDIAN
HIGH
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027531
Chromosome 3
Coordinate 10,322,958     (Assembly: GRCm38)    
Ref Base T
Codon Change Aaa/Gaa
Var Base C
Zygosity Heterozygous
Read Depth 68
Allele Frequency
T:R0.54
C:V0.46
Amino Acid Position 135
Amino Acid Change K->E (Lysine -> Glutamic acid)
Sample ID IGL02411
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0.53
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved