Kcnma1 - SNV Details



 Gene Information 
Gene Name Kcnma1
Old Gene Names for Kcnma1 5730414m22rik , Slo
Gene Description potassium large conductance calcium-activated channel, subfamily M, alpha member 1 [Source:MGI Symbol;Acc:MGI:99923]
MGI phenotype Homozygous inactivation of this gene leads to cerebellar ataxia, Purkinje cell dysfunction, uneven gait patterns, bladder hyperactivity, urinary incontinence, abnormal colonic K+ secretion, and hearing impairment.
Uniprot Name
CCDS Name
Gene GO
synaptic transmission; postsynaptic membrane; membrane; potassium ion transmembrane transport; terminal button; caveola; integral to membrane; potassium channel activity; apical plasma membrane; locomotor rhythm; positive regulation of apoptotic process; cell maturation; auditory receptor cell differentiation; endoplasmic reticulum; negative regulation of cell volume; vasodilation; response to carbon monoxide; micturition; large conductance calcium-activated potassium channel activity; response to osmotic stress; cellular potassium ion homeostasis; external side of plasma membrane; response to hypoxia; protein binding; neuromuscular process controlling balance; ion channel activity; eye blink reflex; sensory perception of sound; calcium-activated potassium channel activity; adult walking behavior; ion transport; voltage-gated potassium channel activity; regulation of action potential in neuron; nucleotide binding; protein homooligomerization; smooth muscle contraction involved in micturition; transmembrane transport; cytoplasmic part; plasma membrane; response to calcium ion; regulation of aldosterone metabolic process; actin binding; regulation of membrane potential; voltage-gated potassium channel complex; saliva secretion; circadian rhythm; relaxation of vascular smooth muscle; potassium ion transport
Homolog in other species KCNMA1
Omim http://omim.org/entry/600150
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, DORSALROOTGANGLION, HIPPOCAMPUS, AMYGDALA, FRONTALCORTEX, CEREBRALCORTEX, CORTEX, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000063142
Chromosome 14
Coordinate 23,311,689     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 23
Allele Frequency
T:R0.52
C:V0.48
Amino Acid Change R->G (Arginine -> Glycine)
Sample ID IGL02491
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 56 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved