|Institutional Source||Beutler Lab|
|Gene Name||hyperpolarization-activated, cyclic nucleotide-gated K+ 4|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4418 (G1)|
|Chromosomal Location||58823412-58863175 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 58843895 bp|
|Amino Acid Change||Threonine to Methionine at position 268 (T268M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034889 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034889]|
|Predicted Effect||probably benign
AA Change: T268M
PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: T268M
|Meta Mutation Damage Score||0.1256|
|Coding Region Coverage||
|Validation Efficiency||95% (72/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for the cardiac pacemaking process. This channel may also mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene experience embryonic lethality between E9.5 and E11.5. Conditional deletion in cardiac tissue results in severe bradycardia and death. Mice over-expressing the gene exhibit impaired firing rate in ORN, small olfactory bulb and reduced glomeruli. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hcn4||
(F):5'- TGGGAAGCTCTCAGAACACAG -3'
(R):5'- TCTGCGGGTCAAGGATGATTTC -3'
(F):5'- TACCCTGGTGAATGAGGAGTCTC -3'
(R):5'- CAAGGATGATTTCTGTGTTGTCCTCC -3'