Incidental Mutation 'R6622:Hcn4'
ID 524536
Institutional Source Beutler Lab
Gene Symbol Hcn4
Ensembl Gene ENSMUSG00000032338
Gene Name hyperpolarization-activated, cyclic nucleotide-gated K+ 4
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6622 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 58730695-58770458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58765010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 534 (V534E)
Ref Sequence ENSEMBL: ENSMUSP00000034889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034889]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000034889
AA Change: V534E
SMART Domains Protein: ENSMUSP00000034889
Gene: ENSMUSG00000032338
AA Change: V534E

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: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A C 5: 81,942,606 (GRCm39) D1412A probably benign Het
Arhgap26 A G 18: 39,032,916 (GRCm39) probably benign Het
Card14 A G 11: 119,224,814 (GRCm39) M614V probably benign Het
Cbx2 A G 11: 118,919,961 (GRCm39) T509A probably damaging Het
Cep135 A G 5: 76,788,815 (GRCm39) D1136G probably benign Het
Cep170 T A 1: 176,583,898 (GRCm39) Q827L probably damaging Het
Clock A T 5: 76,389,801 (GRCm39) I349K probably damaging Het
Cnppd1 A T 1: 75,113,539 (GRCm39) V243E probably damaging Het
Cops3 A G 11: 59,723,960 (GRCm39) F93L probably damaging Het
Cplane1 C A 15: 8,273,706 (GRCm39) A2563D probably damaging Het
Cxxc5 T G 18: 35,992,372 (GRCm39) C258G possibly damaging Het
Cycs G A 6: 50,543,443 (GRCm39) probably benign Het
Cyp2c40 A T 19: 39,790,990 (GRCm39) H280Q probably damaging Het
Cyp4f14 C T 17: 33,133,619 (GRCm39) R79H probably benign Het
Dnajc27 A G 12: 4,153,114 (GRCm39) S197G probably benign Het
Dscam C T 16: 96,446,273 (GRCm39) G1456E probably benign Het
Dst G A 1: 34,218,332 (GRCm39) V1591I probably benign Het
Epha5 A G 5: 84,385,387 (GRCm39) S315P possibly damaging Het
Frmd4a A G 2: 4,610,873 (GRCm39) T1012A probably benign Het
Fxr2 G A 11: 69,532,416 (GRCm39) probably null Het
Hrh4 A G 18: 13,155,454 (GRCm39) Y331C probably damaging Het
Insyn1 A G 9: 58,406,533 (GRCm39) I148V probably benign Het
Kif16b T A 2: 142,554,362 (GRCm39) H812L probably benign Het
Krt14 T A 11: 100,094,786 (GRCm39) R451S probably benign Het
Man2b1 A G 8: 85,811,108 (GRCm39) T80A probably damaging Het
Nedd4l A G 18: 65,307,305 (GRCm39) T383A probably damaging Het
Pcdha9 T A 18: 37,131,707 (GRCm39) L259M possibly damaging Het
Pdgfd T C 9: 6,293,818 (GRCm39) C131R probably damaging Het
Prrc2a C G 17: 35,374,396 (GRCm39) R1418P probably damaging Het
Ptpra G T 2: 30,327,589 (GRCm39) E114D probably damaging Het
Ptprt A T 2: 161,395,760 (GRCm39) C1157S probably damaging Het
Rnf126 A T 10: 79,597,397 (GRCm39) probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Sel1l3 A G 5: 53,297,202 (GRCm39) V748A probably damaging Het
Serinc5 T A 13: 92,825,194 (GRCm39) S208T probably benign Het
Sftpb A G 6: 72,282,639 (GRCm39) I74V possibly damaging Het
Slc22a14 A C 9: 118,999,643 (GRCm39) I516S possibly damaging Het
Slco2a1 G A 9: 102,951,704 (GRCm39) C411Y possibly damaging Het
Spata31f1e T A 4: 42,793,111 (GRCm39) L340F probably damaging Het
Tent5a G T 9: 85,208,509 (GRCm39) R105S probably damaging Het
Tet3 G A 6: 83,380,426 (GRCm39) P581S probably benign Het
Tmem231 T C 8: 112,645,563 (GRCm39) D112G probably damaging Het
Tnrc6b T A 15: 80,763,385 (GRCm39) W296R probably damaging Het
Trpm1 T A 7: 63,890,343 (GRCm39) L982H probably damaging Het
Ttn C A 2: 76,550,862 (GRCm39) R23183I possibly damaging Het
Tuft1 T A 3: 94,542,726 (GRCm39) Y46F probably damaging Het
Vmn1r167 T A 7: 23,205,014 (GRCm39) M1L probably null Het
Zfp808 A G 13: 62,319,646 (GRCm39) R292G possibly damaging Het
Zp2 T C 7: 119,731,748 (GRCm39) E669G probably benign Het
Zp2 C T 7: 119,741,136 (GRCm39) M129I 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
R5600:Hcn4 UTSW 9 58,766,576 (GRCm39) splice site probably null
R6346:Hcn4 UTSW 9 58,766,327 (GRCm39) missense unknown
R6575:Hcn4 UTSW 9 58,731,435 (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'- CATGGATGGAAGCCTCCTTC -3'
(R):5'- CTCCACGTACAGCAAAGGTTG -3'

Sequencing Primer
(F):5'- CCCTACCTCCATCACCCCG -3'
(R):5'- AACTGTGTGCCAGCGAG -3'
Posted On 2018-06-22