Incidental Mutation 'R4967:Hcn4'
ID 384127
Institutional Source Beutler Lab
Gene Symbol Hcn4
Ensembl Gene ENSMUSG00000032338
Gene Name hyperpolarization-activated, cyclic nucleotide-gated K+ 4
Synonyms
MMRRC Submission 042563-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4967 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 58730695-58770458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 58767111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 891 (P891A)
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: P891A
SMART Domains Protein: ENSMUSP00000034889
Gene: ENSMUSG00000032338
AA Change: P891A

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
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (102/102)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,956,502 (GRCm39) Y199* probably null Het
Adhfe1 A T 1: 9,637,029 (GRCm39) I394F probably benign Het
Arhgap26 G T 18: 39,379,893 (GRCm39) R485L probably damaging Het
Atat1 T A 17: 36,212,467 (GRCm39) N231I probably damaging Het
B4galnt2 T C 11: 95,760,100 (GRCm39) N309S probably benign Het
Bank1 A T 3: 135,772,134 (GRCm39) F499I probably damaging Het
Bcl9l A G 9: 44,416,365 (GRCm39) D146G possibly damaging Het
Bglap3 A T 3: 88,283,671 (GRCm39) probably benign Het
Bscl2 C A 19: 8,825,344 (GRCm39) T376K probably benign Het
Cercam A T 2: 29,761,033 (GRCm39) probably null Het
Clec4f C T 6: 83,633,012 (GRCm39) M1I probably null Het
Clec4n A T 6: 123,209,066 (GRCm39) I14F probably benign Het
Cmya5 T C 13: 93,227,093 (GRCm39) E2665G probably damaging Het
Cog4 T A 8: 111,578,915 (GRCm39) probably null Het
Cubn A G 2: 13,352,856 (GRCm39) F1961L probably benign Het
Cyp4a29 A T 4: 115,104,196 (GRCm39) H88L probably benign Het
Dhdh A G 7: 45,128,530 (GRCm39) L216P probably damaging Het
Dpp6 T C 5: 27,871,509 (GRCm39) F544S probably damaging Het
Dthd1 C T 5: 63,045,549 (GRCm39) T771I probably benign Het
Emc10 A G 7: 44,142,612 (GRCm39) probably null Het
Fgg A T 3: 82,920,072 (GRCm39) T284S probably benign Het
Gask1a C T 9: 121,794,784 (GRCm39) R313W probably damaging Het
Gm3002 T A 14: 3,824,737 (GRCm38) N24K probably damaging Het
Gm8674 G A 13: 50,056,034 (GRCm39) noncoding transcript Het
Gpr63 G A 4: 25,008,368 (GRCm39) W364* probably null Het
Hcrtr1 A T 4: 130,024,792 (GRCm39) F365I possibly damaging Het
Hmcn2 A G 2: 31,244,176 (GRCm39) probably null Het
Hoxc5 T A 15: 102,923,786 (GRCm39) L194H probably damaging Het
Ifna11 A G 4: 88,738,287 (GRCm39) N31S probably null Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Iqgap2 A T 13: 95,766,514 (GRCm39) D1496E probably benign Het
Kif28 G T 1: 179,536,007 (GRCm39) Q556K probably damaging Het
Klhl42 C T 6: 147,009,502 (GRCm39) T447I possibly damaging Het
Lrp1b A C 2: 41,678,986 (GRCm39) D35E probably damaging Het
Lsm14b A G 2: 179,675,692 (GRCm39) probably benign Het
Map3k1 T C 13: 111,909,272 (GRCm39) E226G probably damaging Het
Map3k14 T A 11: 103,130,357 (GRCm39) N187Y probably benign Het
Mcm6 A T 1: 128,263,586 (GRCm39) V645E probably damaging Het
Mdh1b G T 1: 63,759,022 (GRCm39) P190Q probably damaging Het
Meiob T G 17: 25,037,353 (GRCm39) L77R probably damaging Het
Mrgpra3 A T 7: 47,239,267 (GRCm39) F220I probably benign Het
Mrtfa C A 15: 80,929,476 (GRCm39) probably benign Het
Mtor T A 4: 148,575,817 (GRCm39) S1324T possibly damaging Het
Myot T A 18: 44,487,995 (GRCm39) D437E possibly damaging Het
Ncoa6 G T 2: 155,263,252 (GRCm39) T394K possibly damaging Het
Nf1 T A 11: 79,456,379 (GRCm39) probably null Het
Nup210 T A 6: 91,013,451 (GRCm39) T1190S possibly damaging Het
Odf1 T A 15: 38,226,652 (GRCm39) I184N probably damaging Het
Or10d1 C T 9: 39,484,054 (GRCm39) C167Y probably damaging Het
Or13d1 T C 4: 52,970,960 (GRCm39) V113A possibly damaging Het
Or1n1b A G 2: 36,780,719 (GRCm39) I47T probably damaging Het
Or5k15 G T 16: 58,709,957 (GRCm39) Q209K possibly damaging Het
Padi1 A G 4: 140,572,901 (GRCm39) V21A probably benign Het
Pdzrn3 C T 6: 101,128,551 (GRCm39) R705H probably damaging Het
Pik3cb T C 9: 98,987,685 (GRCm39) I18V probably benign Het
Pmpca T C 2: 26,280,320 (GRCm39) S117P probably damaging Het
Poteg T A 8: 27,985,009 (GRCm39) probably benign Het
Pramel32 T C 4: 88,547,432 (GRCm39) T80A probably damaging Het
Rab30 G A 7: 92,478,771 (GRCm39) R72H probably damaging Het
Ramp2 T A 11: 101,138,383 (GRCm39) probably null Het
Rbks G A 5: 31,781,876 (GRCm39) T308I probably damaging Het
Rnf112 A G 11: 61,343,752 (GRCm39) probably benign Het
Rnf38 G A 4: 44,152,460 (GRCm39) P3S probably damaging Het
Sec16a A G 2: 26,302,883 (GRCm39) S2344P probably benign Het
Slc16a8 C T 15: 79,137,084 (GRCm39) V109M possibly damaging Het
Slc28a1 A T 7: 80,791,757 (GRCm39) T308S possibly damaging Het
Slc39a3 T C 10: 80,867,453 (GRCm39) T98A possibly damaging Het
Smarcc2 T C 10: 128,319,049 (GRCm39) F731L probably damaging Het
Smc4 A G 3: 68,925,572 (GRCm39) probably benign Het
Sparcl1 T G 5: 104,240,776 (GRCm39) D216A probably damaging Het
Speg G A 1: 75,364,513 (GRCm39) R192H probably damaging Het
Sspo T C 6: 48,441,539 (GRCm39) L1892P probably damaging Het
Styxl2 A T 1: 165,954,675 (GRCm39) V25E probably damaging Het
Tacc2 A G 7: 130,225,678 (GRCm39) N807D probably damaging Het
Teddm1a A T 1: 153,767,979 (GRCm39) K148* probably null Het
Tex15 T A 8: 34,064,498 (GRCm39) D1309E probably benign Het
Thbs1 A T 2: 117,945,259 (GRCm39) E277D probably benign Het
Ticrr G A 7: 79,310,158 (GRCm39) R24Q probably damaging Het
Tigd4 A G 3: 84,502,460 (GRCm39) E459G probably benign Het
Tln2 C A 9: 67,262,407 (GRCm39) A615S probably damaging Het
Tmprss5 T C 9: 49,026,817 (GRCm39) V410A probably damaging Het
Tnrc6a G T 7: 122,789,095 (GRCm39) W1638L probably damaging Het
Tpr A G 1: 150,285,810 (GRCm39) D424G probably damaging Het
Trim34a A T 7: 103,910,271 (GRCm39) K358* probably null Het
Tssk5 T A 15: 76,258,856 (GRCm39) D10V possibly damaging Het
Usp35 A C 7: 96,962,782 (GRCm39) L470R probably damaging Het
Usp42 T C 5: 143,701,119 (GRCm39) D968G possibly damaging Het
Utrn A G 10: 12,331,164 (GRCm39) V2924A probably damaging Het
Wdtc1 C A 4: 133,021,654 (GRCm39) A627S probably damaging Het
Xrra1 A G 7: 99,555,730 (GRCm39) T366A probably damaging Het
Zfp712 T A 13: 67,188,773 (GRCm39) K585* probably null Het
Zfp97 T A 17: 17,365,393 (GRCm39) N297K probably damaging Het
Zfp97 G T 17: 17,364,938 (GRCm39) E146* probably null 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
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 PCR Primer
(F):5'- TTGATCCCTTCAGCTCTGGG -3'
(R):5'- AGACCTAGGGACAACTCTCC -3'

Sequencing Primer
(F):5'- TGGGCTCTGCTTCACCCG -3'
(R):5'- CAAGAAGTGCTCCAGGAGTCC -3'
Posted On 2016-04-27