Incidental Mutation 'R5600:Hcn4'
ID 438991
Institutional Source Beutler Lab
Gene Symbol Hcn4
Ensembl Gene ENSMUSG00000032338
Gene Name hyperpolarization-activated, cyclic nucleotide-gated K+ 4
Synonyms
MMRRC Submission 043152-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5600 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 58730695-58770458 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 58766576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034889] [ENSMUST00000034889]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000034889
SMART Domains Protein: ENSMUSP00000034889
Gene: ENSMUSG00000032338

DomainStartEndE-ValueType
low complexity region 27 39 N/A INTRINSIC
low complexity region 43 59 N/A INTRINSIC
low complexity region 97 120 N/A INTRINSIC
low complexity region 150 184 N/A INTRINSIC
Pfam:Ion_trans_N 218 261 1.2e-23 PFAM
Pfam:Ion_trans 262 525 2.2e-25 PFAM
low complexity region 526 537 N/A INTRINSIC
Blast:cNMP 538 570 9e-13 BLAST
cNMP 595 708 2.27e-23 SMART
low complexity region 761 771 N/A INTRINSIC
low complexity region 775 796 N/A INTRINSIC
low complexity region 808 818 N/A INTRINSIC
low complexity region 831 856 N/A INTRINSIC
low complexity region 866 906 N/A INTRINSIC
low complexity region 915 930 N/A INTRINSIC
low complexity region 931 956 N/A INTRINSIC
low complexity region 960 987 N/A INTRINSIC
low complexity region 991 1004 N/A INTRINSIC
low complexity region 1021 1036 N/A INTRINSIC
low complexity region 1045 1073 N/A INTRINSIC
low complexity region 1123 1140 N/A INTRINSIC
low complexity region 1154 1164 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000034889
SMART Domains Protein: ENSMUSP00000034889
Gene: ENSMUSG00000032338

DomainStartEndE-ValueType
low complexity region 27 39 N/A INTRINSIC
low complexity region 43 59 N/A INTRINSIC
low complexity region 97 120 N/A INTRINSIC
low complexity region 150 184 N/A INTRINSIC
Pfam:Ion_trans_N 218 261 1.2e-23 PFAM
Pfam:Ion_trans 262 525 2.2e-25 PFAM
low complexity region 526 537 N/A INTRINSIC
Blast:cNMP 538 570 9e-13 BLAST
cNMP 595 708 2.27e-23 SMART
low complexity region 761 771 N/A INTRINSIC
low complexity region 775 796 N/A INTRINSIC
low complexity region 808 818 N/A INTRINSIC
low complexity region 831 856 N/A INTRINSIC
low complexity region 866 906 N/A INTRINSIC
low complexity region 915 930 N/A INTRINSIC
low complexity region 931 956 N/A INTRINSIC
low complexity region 960 987 N/A INTRINSIC
low complexity region 991 1004 N/A INTRINSIC
low complexity region 1021 1036 N/A INTRINSIC
low complexity region 1045 1073 N/A INTRINSIC
low complexity region 1123 1140 N/A INTRINSIC
low complexity region 1154 1164 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.0%
Validation Efficiency
MGI Phenotype 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
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol11b A C 15: 77,519,288 (GRCm39) M264R probably damaging Het
Asprv1 G T 6: 86,606,044 (GRCm39) E297* probably null Het
Atp6v1c1 T C 15: 38,687,107 (GRCm39) V234A probably benign Het
Ccp110 G A 7: 118,328,948 (GRCm39) probably null Het
Cfap251 T C 5: 123,426,761 (GRCm39) V383A possibly damaging Het
Fgfrl1 T C 5: 108,853,168 (GRCm39) C173R probably damaging Het
Gm5431 G A 11: 48,785,583 (GRCm39) T264M possibly damaging Het
Golga1 T C 2: 38,910,111 (GRCm39) E637G probably damaging Het
Gpr158 A G 2: 21,832,046 (GRCm39) T1049A probably benign Het
Krt86 G A 15: 101,374,386 (GRCm39) V260I probably benign Het
Ktn1 A T 14: 47,927,490 (GRCm39) Q548L probably damaging Het
Lingo4 A T 3: 94,309,220 (GRCm39) I53F probably benign Het
Lrrk1 A C 7: 65,956,963 (GRCm39) I336S probably benign Het
Magel2 G T 7: 62,029,514 (GRCm39) G806V unknown Het
Mrc2 T A 11: 105,224,492 (GRCm39) S501T probably damaging Het
Mrps18a T A 17: 46,436,575 (GRCm39) L128* probably null Het
Mtor G T 4: 148,575,927 (GRCm39) L1360F probably damaging Het
Mtpap A G 18: 4,379,674 (GRCm39) E88G probably damaging Het
Myo5c A G 9: 75,196,436 (GRCm39) K1294R probably benign Het
Or10al2 G A 17: 37,983,176 (GRCm39) M87I possibly damaging Het
Pik3c3 G A 18: 30,444,346 (GRCm39) V520M probably damaging Het
Pptc7 T A 5: 122,458,918 (GRCm39) V305E probably damaging Het
Ptgfrn T C 3: 100,963,566 (GRCm39) D682G probably damaging Het
Rfx6 A T 10: 51,599,157 (GRCm39) Q538L probably damaging Het
Sbk1 G A 7: 125,891,415 (GRCm39) R283H probably damaging Het
Sfswap T C 5: 129,590,222 (GRCm39) F240L probably damaging Het
Siglec1 T A 2: 130,927,503 (GRCm39) H101L probably benign Het
Smg1 A G 7: 117,767,107 (GRCm39) probably benign Het
Spink5 A G 18: 44,151,778 (GRCm39) T986A probably damaging Het
Stat1 T A 1: 52,188,101 (GRCm39) S496T probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tenm2 C T 11: 36,054,541 (GRCm39) probably null Het
Tiam1 G T 16: 89,662,253 (GRCm39) R622S probably damaging Het
Vmn2r109 C A 17: 20,761,189 (GRCm39) D723Y probably damaging Het
Vmn2r70 G T 7: 85,212,935 (GRCm39) Q491K probably benign Het
Wnk1 A C 6: 119,926,319 (GRCm39) S1297R probably damaging Het
Zan C T 5: 137,385,233 (GRCm39) V5067I unknown Het
Zfp108 A G 7: 23,960,011 (GRCm39) S201G probably benign Het
Other mutations in Hcn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Hcn4 APN 9 58,767,336 (GRCm39) missense unknown
IGL00939:Hcn4 APN 9 58,751,210 (GRCm39) missense probably benign 0.39
IGL01154:Hcn4 APN 9 58,766,362 (GRCm39) missense unknown
IGL01408:Hcn4 APN 9 58,767,169 (GRCm39) missense unknown
IGL02658:Hcn4 APN 9 58,766,748 (GRCm39) missense unknown
IGL02877:Hcn4 APN 9 58,766,450 (GRCm39) missense unknown
IGL03211:Hcn4 APN 9 58,765,434 (GRCm39) missense unknown
PIT1430001:Hcn4 UTSW 9 58,766,833 (GRCm39) missense unknown
R0049:Hcn4 UTSW 9 58,767,582 (GRCm39) missense probably damaging 0.98
R0268:Hcn4 UTSW 9 58,767,445 (GRCm39) missense unknown
R0812:Hcn4 UTSW 9 58,730,795 (GRCm39) start codon destroyed probably null
R2121:Hcn4 UTSW 9 58,731,341 (GRCm39) missense unknown
R3035:Hcn4 UTSW 9 58,730,963 (GRCm39) missense unknown
R3715:Hcn4 UTSW 9 58,751,319 (GRCm39) missense unknown
R3737:Hcn4 UTSW 9 58,751,172 (GRCm39) missense probably benign 0.39
R3958:Hcn4 UTSW 9 58,751,331 (GRCm39) missense unknown
R4035:Hcn4 UTSW 9 58,751,172 (GRCm39) missense probably benign 0.39
R4393:Hcn4 UTSW 9 58,751,583 (GRCm39) missense unknown
R4418:Hcn4 UTSW 9 58,751,178 (GRCm39) missense probably benign 0.39
R4532:Hcn4 UTSW 9 58,765,081 (GRCm39) missense unknown
R4765:Hcn4 UTSW 9 58,765,260 (GRCm39) missense unknown
R4857:Hcn4 UTSW 9 58,766,853 (GRCm39) missense unknown
R4967:Hcn4 UTSW 9 58,767,111 (GRCm39) missense unknown
R5068:Hcn4 UTSW 9 58,767,304 (GRCm39) missense unknown
R5253:Hcn4 UTSW 9 58,731,558 (GRCm39) missense unknown
R5304:Hcn4 UTSW 9 58,751,215 (GRCm39) missense probably benign 0.39
R6346:Hcn4 UTSW 9 58,766,327 (GRCm39) missense unknown
R6575:Hcn4 UTSW 9 58,731,435 (GRCm39) missense unknown
R6622:Hcn4 UTSW 9 58,765,010 (GRCm39) missense unknown
R6967:Hcn4 UTSW 9 58,731,228 (GRCm39) missense unknown
R7038:Hcn4 UTSW 9 58,730,867 (GRCm39) missense unknown
R7054:Hcn4 UTSW 9 58,763,000 (GRCm39) missense unknown
R7229:Hcn4 UTSW 9 58,760,682 (GRCm39) missense unknown
R7407:Hcn4 UTSW 9 58,766,653 (GRCm39) missense unknown
R7448:Hcn4 UTSW 9 58,751,582 (GRCm39) missense unknown
R7531:Hcn4 UTSW 9 58,767,420 (GRCm39) missense unknown
R7572:Hcn4 UTSW 9 58,731,063 (GRCm39) missense unknown
R7680:Hcn4 UTSW 9 58,767,954 (GRCm39) missense probably benign 0.08
R7915:Hcn4 UTSW 9 58,731,218 (GRCm39) missense unknown
R7956:Hcn4 UTSW 9 58,751,456 (GRCm39) missense unknown
R8146:Hcn4 UTSW 9 58,731,027 (GRCm39) missense unknown
R8234:Hcn4 UTSW 9 58,751,433 (GRCm39) missense unknown
R8421:Hcn4 UTSW 9 58,765,379 (GRCm39) missense unknown
R8690:Hcn4 UTSW 9 58,751,193 (GRCm39) missense probably benign 0.39
R8855:Hcn4 UTSW 9 58,765,387 (GRCm39) missense unknown
R8884:Hcn4 UTSW 9 58,760,705 (GRCm39) missense unknown
R9017:Hcn4 UTSW 9 58,731,482 (GRCm39) missense unknown
R9151:Hcn4 UTSW 9 58,767,880 (GRCm39) missense possibly damaging 0.94
R9331:Hcn4 UTSW 9 58,767,705 (GRCm39) missense probably damaging 0.97
R9433:Hcn4 UTSW 9 58,731,222 (GRCm39) missense unknown
R9523:Hcn4 UTSW 9 58,766,809 (GRCm39) missense unknown
R9541:Hcn4 UTSW 9 58,767,685 (GRCm39) missense probably damaging 1.00
R9730:Hcn4 UTSW 9 58,731,493 (GRCm39) missense unknown
R9748:Hcn4 UTSW 9 58,730,996 (GRCm39) missense unknown
R9753:Hcn4 UTSW 9 58,751,319 (GRCm39) missense unknown
R9795:Hcn4 UTSW 9 58,760,762 (GRCm39) nonsense probably null
RF011:Hcn4 UTSW 9 58,767,198 (GRCm39) missense unknown
X0009:Hcn4 UTSW 9 58,768,042 (GRCm39) nonsense probably null
X0057:Hcn4 UTSW 9 58,766,651 (GRCm39) missense unknown
Z1176:Hcn4 UTSW 9 58,765,431 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CGGATACTTATTGCCGCCTC -3'
(R):5'- TCCATATAACAGGCGTGGGG -3'

Sequencing Primer
(F):5'- TCACTGAGCGTGGACAACTTC -3'
(R):5'- ATATAACAGGCGTGGGGGTTGG -3'
Posted On 2016-10-26