|Institutional Source||Beutler Lab|
|Gene Name||potassium inwardly-rectifying channel, subfamily J, member 8|
|Synonyms||Kir6.1, sltr, gnite, slmbr|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4900 (G1)|
|Chromosomal Location||142564837-142571614 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 142566495 bp|
|Amino Acid Change||Serine to Proline at position 129 (S129P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000145440 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032374] [ENSMUST00000203945]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: S129P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S129P
|Meta Mutation Damage Score||0.9373|
|Coding Region Coverage||
|Validation Efficiency||100% (84/84)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit sudden cardiac death due to dysregulation of the vascular tonus in the coronary arteries, and exhibit a phenotype resembling Prinzmetal (or variant) angina in humans. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnj8||
(F):5'- GAAAATCAGCGTCTCTGCCC -3'
(R):5'- CTGGAAGTACATACATAGGTACAAACG -3'
(F):5'- AATCAGCGTCTCTGCCCTTCTG -3'
(R):5'- TACATACATAGGTACAAACGGAAAAG -3'