Incidental Mutation 'PIT1430001:Hcn4'
ID 499882
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 # PIT1430001 (G1)
Quality Score 100
Status Validated
Chromosome 9
Chromosomal Location 58730695-58770458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 58766833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 798 (H798P)
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: H798P
SMART Domains Protein: ENSMUSP00000034889
Gene: ENSMUSG00000032338
AA Change: H798P

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: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (136/137)
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: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,207,160 (GRCm39) I524F possibly damaging Het
4930511M06Rik T C 18: 57,517,241 (GRCm39) probably benign Het
9330159F19Rik T A 10: 29,100,711 (GRCm39) N361K probably damaging Het
Adgra2 A G 8: 27,604,216 (GRCm39) M469V possibly damaging Het
Akap9 A G 5: 4,079,849 (GRCm39) D1867G probably damaging Het
Ankrd17 T C 5: 90,400,832 (GRCm39) T1687A possibly damaging Het
Ap1m2 G A 9: 21,209,548 (GRCm39) P376L probably damaging Het
Bicc1 A G 10: 70,793,511 (GRCm39) S196P possibly damaging Het
Cacnb2 C T 2: 14,976,412 (GRCm39) R228* probably null Het
Ccdc43 A G 11: 102,582,976 (GRCm39) S83P probably damaging Het
Cdc42bpg T A 19: 6,372,582 (GRCm39) probably null Het
Cdh16 C A 8: 105,344,271 (GRCm39) M89I probably benign Het
Cecr2 A C 6: 120,735,440 (GRCm39) H892P probably benign Het
Chd5 T A 4: 152,455,094 (GRCm39) S859T probably damaging Het
Chrd G A 16: 20,557,748 (GRCm39) probably null Het
Chrna2 T A 14: 66,387,186 (GRCm39) L444Q probably benign Het
Ckap4 A G 10: 84,363,630 (GRCm39) S478P probably damaging Het
Cldn4 A T 5: 134,975,514 (GRCm39) M29K possibly damaging Het
Clpb T C 7: 101,435,926 (GRCm39) V615A possibly damaging Het
Cyb5r4 G A 9: 86,920,791 (GRCm39) G142E probably benign Het
Cyp1a1 A G 9: 57,608,194 (GRCm39) Y274C probably benign Het
D2hgdh T C 1: 93,754,001 (GRCm39) probably benign Het
Dgkh T A 14: 78,818,953 (GRCm39) E919V probably damaging Het
Dnah1 A G 14: 30,984,537 (GRCm39) Y3916H probably damaging Het
Dpp10 A G 1: 123,268,911 (GRCm39) probably benign Het
Dync2i2 T C 2: 29,922,147 (GRCm39) Y438C probably damaging Het
Egfr A G 11: 16,860,214 (GRCm39) T1043A probably benign Het
Elp5 T G 11: 69,857,935 (GRCm39) probably null Het
Emilin3 A T 2: 160,750,402 (GRCm39) M449K possibly damaging Het
Epb41l4a T G 18: 33,930,400 (GRCm39) T686P probably damaging Het
Eppk1 A G 15: 76,105,236 (GRCm38) C2482R probably benign Het
Eps8l3 T C 3: 107,792,183 (GRCm39) L370P probably damaging Het
Erbin A T 13: 103,996,017 (GRCm39) S228R probably damaging Het
Fam149a C T 8: 45,804,743 (GRCm39) E280K probably benign Het
Fam78b T C 1: 166,829,313 (GRCm39) I60T probably benign Het
Fank1 A T 7: 133,478,529 (GRCm39) R197* probably null Het
Fbxo21 C T 5: 118,115,931 (GRCm39) S83F possibly damaging Het
Fbxo4 G C 15: 4,008,782 (GRCm39) T42R probably benign Het
Fhad1 C G 4: 141,637,060 (GRCm39) E1135D probably damaging Het
Fmo1 T A 1: 162,657,622 (GRCm39) E506D probably benign Het
Glipr1l2 A T 10: 111,942,745 (GRCm39) T231S probably benign Het
Gm11651 C G 11: 105,863,917 (GRCm39) probably benign Het
Gm16043 A G 6: 8,426,969 (GRCm39) probably null Het
Gm572 T G 4: 148,755,850 (GRCm39) W389G unknown Het
Gpc6 G A 14: 118,188,594 (GRCm39) W409* probably null Het
Gpr155 T C 2: 73,200,482 (GRCm39) T342A probably benign Het
Herc2 T C 7: 55,876,702 (GRCm39) S4513P probably damaging Het
Hmcn1 G A 1: 150,684,488 (GRCm39) R361C probably benign Het
Hoxa4 G T 6: 52,168,199 (GRCm39) P157Q possibly damaging Het
Ift122 A C 6: 115,902,705 (GRCm39) probably benign Het
Igfbpl1 G A 4: 45,826,756 (GRCm39) S13L unknown Het
Igsf10 T C 3: 59,235,579 (GRCm39) D1534G probably benign Het
Il1rap T G 16: 26,529,343 (GRCm39) L339V possibly damaging Het
Irf2bpl C T 12: 86,930,229 (GRCm39) R148H possibly damaging Het
Ivns1abp A T 1: 151,237,356 (GRCm39) R58W probably damaging Het
Kcnq5 C T 1: 21,605,405 (GRCm39) V167M probably damaging Het
Lrrcc1 G A 3: 14,610,656 (GRCm39) C337Y probably damaging Het
Lrriq3 A G 3: 154,804,507 (GRCm39) I56V probably benign Het
Masp1 C A 16: 23,332,694 (GRCm39) S47I probably damaging Het
Mcm7 A T 5: 138,165,708 (GRCm39) probably benign Het
Mdm2 G T 10: 117,530,840 (GRCm39) S210R probably damaging Het
Mical1 A G 10: 41,359,492 (GRCm39) R500G possibly damaging Het
Mtarc1 T G 1: 184,539,246 (GRCm39) T37P probably benign Het
Myc A C 15: 61,859,542 (GRCm39) T73P probably damaging Het
Myh15 G A 16: 49,017,254 (GRCm39) probably null Het
Myh4 A G 11: 67,149,658 (GRCm39) M1768V probably benign Het
Nap1l1 T C 10: 111,322,597 (GRCm39) Y66H probably damaging Het
Ncoa1 C T 12: 4,373,005 (GRCm39) R132K probably benign Het
Nfatc3 C T 8: 106,786,605 (GRCm39) S28F possibly damaging Het
Nhlrc3 T A 3: 53,361,050 (GRCm39) K235M probably damaging Het
Nrk G A X: 137,879,463 (GRCm39) E757K probably damaging Het
Obsl1 G A 1: 75,482,811 (GRCm39) P20S probably damaging Het
P2rx7 C T 5: 122,819,279 (GRCm39) A567V probably damaging Het
Pate9 A T 9: 36,446,295 (GRCm39) L39* probably null Het
Pcdhb15 G A 18: 37,608,724 (GRCm39) R652H probably benign Het
Pcdhga4 T C 18: 37,819,267 (GRCm39) V272A probably benign Het
Pcdhgb1 T G 18: 37,814,472 (GRCm39) V321G probably damaging Het
Pde2a C G 7: 101,100,684 (GRCm39) probably benign Het
Pdhb C T 14: 8,170,425 (GRCm38) E109K probably damaging Het
Pkd1 C A 17: 24,788,485 (GRCm39) L748M probably damaging Het
Pkd2 A T 5: 104,607,654 (GRCm39) E51V probably damaging Het
Pkdrej A G 15: 85,705,493 (GRCm39) Y148H probably damaging Het
Polr3gl C G 3: 96,488,228 (GRCm39) probably benign Het
Ppfia1 A T 7: 144,052,073 (GRCm39) L882Q probably damaging Het
Ppp4r3b G T 11: 29,159,434 (GRCm39) R596L probably benign Het
Ppp6r3 G A 19: 3,521,059 (GRCm39) Q85* probably null Het
Prss8 A G 7: 127,521,424 (GRCm39) probably benign Het
Qng1 T A 13: 58,532,827 (GRCm39) K48* probably null Het
Rab22a A G 2: 173,536,963 (GRCm39) I87V probably benign Het
Rev1 A C 1: 38,095,337 (GRCm39) probably benign Het
Rnase13 A G 14: 52,159,987 (GRCm39) Y51H probably damaging Het
Rnf26 T C 9: 44,023,942 (GRCm39) H102R probably damaging Het
Rnf5 T C 17: 34,822,341 (GRCm39) E36G probably damaging Het
Rplp1 T G 9: 61,821,658 (GRCm39) D18A probably benign Het
Rrs1 C A 1: 9,616,150 (GRCm39) D134E probably damaging Het
Sec14l1 A G 11: 117,034,629 (GRCm39) Y166C probably damaging Het
Sec14l2 A T 11: 4,059,209 (GRCm39) Y153* probably null Het
Senp1 A G 15: 97,982,870 (GRCm39) L39P probably damaging Het
Senp2 T A 16: 21,832,864 (GRCm39) probably benign Het
Sh3bp1 G A 15: 78,798,224 (GRCm39) A19T probably benign Het
Sis G A 3: 72,830,162 (GRCm39) P1130S probably damaging Het
Slc16a12 C T 19: 34,654,759 (GRCm39) A95T possibly damaging Het
Slc22a4 A G 11: 53,918,783 (GRCm39) V7A probably benign Het
Slc35c2 C T 2: 165,119,452 (GRCm39) S296N probably benign Het
Slf1 A G 13: 77,198,169 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,859 (GRCm39) V616E possibly damaging Het
Smarca2 T A 19: 26,626,493 (GRCm39) M439K probably benign Het
Snx29 G A 16: 11,221,488 (GRCm39) A305T probably benign Het
Socs5 C T 17: 87,441,044 (GRCm39) probably benign Het
Spata31d1a G T 13: 59,849,010 (GRCm39) H1039Q probably benign Het
Srgap1 G A 10: 121,732,658 (GRCm39) probably benign Het
Synj1 A T 16: 90,761,396 (GRCm39) I650N probably damaging Het
Tac4 A C 11: 95,158,190 (GRCm39) probably benign Het
Tbck A C 3: 132,428,487 (GRCm39) T281P probably benign Het
Tbx22 T C X: 106,720,611 (GRCm39) L62P probably damaging Het
Terf2 G C 8: 107,822,934 (GRCm39) R70G probably damaging Het
Tfdp1 C T 8: 13,422,526 (GRCm39) P138S probably benign Het
Tigd2 T C 6: 59,188,233 (GRCm39) Y367H probably damaging Het
Tmprss15 A T 16: 78,821,640 (GRCm39) probably null Het
Tmprss6 C T 15: 78,324,827 (GRCm39) G741D probably damaging Het
Tnrc6b A C 15: 80,813,387 (GRCm39) T1715P probably damaging Het
Tpcn1 T C 5: 120,686,388 (GRCm39) probably benign Het
Trappc2l T C 8: 123,339,874 (GRCm39) S35P probably damaging Het
Trim63 T C 4: 134,048,484 (GRCm39) probably benign Het
Trim66 G T 7: 109,074,454 (GRCm39) D602E probably damaging Het
Trp53bp1 G A 2: 121,101,756 (GRCm39) P2S probably damaging Het
Tspan14 A G 14: 40,637,488 (GRCm39) L100P probably damaging Het
Tspan15 C T 10: 62,023,899 (GRCm39) E260K probably damaging Het
Ubxn10 T C 4: 138,448,199 (GRCm39) D159G probably benign Het
Unc5a T G 13: 55,151,709 (GRCm39) V713G probably damaging Het
Usp16 C T 16: 87,270,020 (GRCm39) A324V probably damaging Het
Uvssa G A 5: 33,559,914 (GRCm39) R422Q possibly damaging Het
Wipf1 A C 2: 73,267,946 (GRCm39) F151V probably damaging Het
Xpo1 A T 11: 23,226,437 (GRCm39) K104N possibly damaging Het
Ybx3 T C 6: 131,356,422 (GRCm39) T150A probably damaging Het
Yju2 C T 17: 56,271,479 (GRCm39) probably benign Het
Zap70 T A 1: 36,818,250 (GRCm39) S312R possibly damaging Het
Zfp534 T G 4: 147,759,880 (GRCm39) K263T probably benign Het
Zfp534 T G 4: 147,759,917 (GRCm39) N251H 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
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
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
Posted On 2017-11-21