|Institutional Source||Beutler Lab|
|Gene Name||potassium inwardly-rectifying channel, subfamily J, member 10|
|Synonyms||BIR10, Kir4.1, Kir1.2, Kir4.1, BIRK-1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1424 (G1)|
|Chromosomal Location||172341210-172374085 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 172369255 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 112 (V112E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000054356 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056136]|
|Predicted Effect||probably damaging
AA Change: V112E
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: V112E
|Meta Mutation Damage Score||0.9390|
|Coding Region Coverage||
|Validation Efficiency||97% (57/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice show increased input resistance and high depolarization of retinal Muller cells, loss of the endocochlear potential, motor coordination deficits and hindlimb paralysis, and a hypomyelination and spongiform vacuolation in the spinalcord associated with severe axonal pathology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnj10||
(F):5'- CGACCTTCATTGACATGCAATGGC -3'
(R):5'- GGAGACTCTTCCGCATATTGGCAAC -3'
(F):5'- GGCGCTACAAGCTTCTGC -3'
(R):5'- TATTGGCAACCCGGATCATAAG -3'