Mutagenetix > Incidental Mutation

Incidental Mutation 'R7448:Hcn4'

577480

Institutional Source

Beutler Lab

Gene Symbol

Hcn4

Ensembl Gene

ENSMUSG00000032338

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 4

Synonyms

MMRRC Submission

045523-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7448 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58730695-58770458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58751582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 403 (E403K)

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: E403K

SMART Domains

Protein: ENSMUSP00000034889
Gene: ENSMUSG00000032338
AA Change: E403K

Domain	Start	End	E-Value	Type
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

0.3948

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (117/117)

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	C	2: 155,360,186 (GRCm39)	S54P	probably damaging	Het
Ahnak2	T	C	12: 112,746,605 (GRCm39)	K1242E		Het
Alpi	T	A	1: 87,029,257 (GRCm39)	M1L	possibly damaging	Het
Atp2c1	C	T	9: 105,329,982 (GRCm39)	A283T	probably damaging	Het
Atp8b5	T	G	4: 43,366,021 (GRCm39)	M764R	probably benign	Het
B4galnt2	T	A	11: 95,760,193 (GRCm39)	H278L	probably damaging	Het
Bcl9l	G	T	9: 44,420,634 (GRCm39)	A1347S	probably benign	Het
Bicd2	A	G	13: 49,533,427 (GRCm39)	E671G	probably damaging	Het
Bmp3	A	T	5: 99,020,077 (GRCm39)	I167F	probably damaging	Het
Bpifb5	T	A	2: 154,072,105 (GRCm39)	C271S	possibly damaging	Het
Camsap2	T	A	1: 136,198,644 (GRCm39)	H793L		Het
Casp8ap2	T	A	4: 32,643,974 (GRCm39)	S1016T	possibly damaging	Het
Castor1	A	G	11: 4,171,897 (GRCm39)	S325G	not run	Het
Ccdc134	T	A	15: 82,025,149 (GRCm39)	I216N	possibly damaging	Het
Ccdc63	G	T	5: 122,246,245 (GRCm39)	R559S	probably benign	Het
Cd276	T	C	9: 58,442,895 (GRCm39)	T187A	probably benign	Het
Ciao1	C	T	2: 127,087,678 (GRCm39)	R219H	probably damaging	Het
Clmn	T	C	12: 104,751,687 (GRCm39)	D256G	possibly damaging	Het
Cobl	A	C	11: 12,206,225 (GRCm39)	M550R	possibly damaging	Het
Cracr2b	A	T	7: 141,044,118 (GRCm39)	T117S	probably benign	Het
Cx3cr1	G	A	9: 119,881,282 (GRCm39)	A40V	probably benign	Het
Cxcl14	A	G	13: 56,440,344 (GRCm39)	C72R	probably damaging	Het
Dab2	T	A	15: 6,451,747 (GRCm39)	I121N	probably damaging	Het
Dapk1	A	G	13: 60,898,990 (GRCm39)	Y820C	probably damaging	Het
Dele1	A	G	18: 38,390,319 (GRCm39)	N256D	probably damaging	Het
Ech1	T	A	7: 28,525,623 (GRCm39)	C91S	probably damaging	Het
Exosc5	T	G	7: 25,358,734 (GRCm39)	V25G	probably benign	Het
Fbp1	A	C	13: 63,020,564 (GRCm39)	D122E	possibly damaging	Het
Fbxw13	A	G	9: 109,014,471 (GRCm39)	Y101H	unknown	Het
Fcsk	C	T	8: 111,616,963 (GRCm39)	G396S	possibly damaging	Het
Fhip1a	G	A	3: 85,579,871 (GRCm39)	S778L	probably benign	Het
Fmnl1	T	A	11: 103,077,453 (GRCm39)	V271E	probably damaging	Het
Galnt1	T	A	18: 24,417,866 (GRCm39)	S545T	probably benign	Het
Galnt13	G	A	2: 54,406,576 (GRCm39)	V9M	possibly damaging	Het
Gm7995	A	T	14: 42,132,302 (GRCm39)	I45F		Het
Gpr137	C	T	19: 6,917,726 (GRCm39)	R134Q	possibly damaging	Het
Gpr22	T	G	12: 31,759,514 (GRCm39)	I203L	probably benign	Het
H2-Q10	T	C	17: 35,784,457 (GRCm39)	Y324H	not run	Het
Hddc2	T	A	10: 31,189,412 (GRCm39)	M1K	probably null	Het
Hps3	A	G	3: 20,089,329 (GRCm39)	F34S	probably damaging	Het
Ift56	T	A	6: 38,381,422 (GRCm39)	Y319*	probably null	Het
Igdcc4	G	T	9: 65,031,276 (GRCm39)	V405L	possibly damaging	Het
Itpr2	C	A	6: 146,231,006 (GRCm39)	V1215L	probably damaging	Het
Kif26b	T	C	1: 178,742,339 (GRCm39)	S812P	probably damaging	Het
Lgi1	T	A	19: 38,289,713 (GRCm39)	C260S	probably damaging	Het
Lhfpl6	A	G	3: 53,168,020 (GRCm39)	Y198C	probably damaging	Het
Lrp5	T	C	19: 3,699,439 (GRCm39)	D282G	probably benign	Het
Lrpprc	T	C	17: 85,079,567 (GRCm39)	T230A	probably damaging	Het
Lrtm2	A	G	6: 119,297,784 (GRCm39)	W86R	probably benign	Het
Maco1	A	T	4: 134,555,590 (GRCm39)	N294K	possibly damaging	Het
Magi2	G	A	5: 20,563,954 (GRCm39)	G199D	probably damaging	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Marchf7	T	A	2: 60,077,858 (GRCm39)		probably null	Het
Morc1	A	G	16: 48,251,708 (GRCm39)	D2G	probably damaging	Het
Mpp7	A	T	18: 7,351,079 (GRCm39)	F539L	probably damaging	Het
Muc13	A	T	16: 33,634,951 (GRCm39)	I502F	probably damaging	Het
Myh13	A	G	11: 67,255,286 (GRCm39)		probably null	Het
Nat10	C	G	2: 103,578,390 (GRCm39)	L238F	probably damaging	Het
Nckap1	G	A	2: 80,354,885 (GRCm39)	T679I	probably damaging	Het
Npy6r	T	A	18: 44,409,260 (GRCm39)	I227N	probably damaging	Het
Nudt18	A	T	14: 70,815,389 (GRCm39)	M1L	unknown	Het
Or13d1	T	A	4: 52,971,207 (GRCm39)	N195K	probably damaging	Het
Or14a257	G	A	7: 86,138,417 (GRCm39)	T114I	probably damaging	Het
Or4f14	T	A	2: 111,742,637 (GRCm39)	I213L	probably benign	Het
Or8d1	C	A	9: 38,766,412 (GRCm39)	T18K	probably damaging	Het
Or8u8	T	C	2: 86,011,678 (GRCm39)	Y259C	probably damaging	Het
Pcdha3	T	A	18: 37,079,266 (GRCm39)	F3I	probably benign	Het
Pcdhga3	T	A	18: 37,808,917 (GRCm39)	Y457N	possibly damaging	Het
Pclo	A	T	5: 14,719,631 (GRCm39)	Q1256L	unknown	Het
Piezo2	C	T	18: 63,157,543 (GRCm39)	R2389H	probably damaging	Het
Pml	G	T	9: 58,154,496 (GRCm39)	Q126K	probably benign	Het
Ppef2	A	G	5: 92,376,563 (GRCm39)	Y655H	probably damaging	Het
Ppp4r1	T	C	17: 66,147,936 (GRCm39)	V926A	probably damaging	Het
Psg29	A	G	7: 16,945,648 (GRCm39)	D406G	possibly damaging	Het
Ptprf	T	C	4: 118,092,864 (GRCm39)	D517G	probably benign	Het
Ptprg	G	A	14: 12,142,461 (GRCm38)	E371K	probably benign	Het
Pttg1ip2	T	C	5: 5,505,952 (GRCm39)	I110V	probably benign	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rasgrp1	T	A	2: 117,122,178 (GRCm39)	D404V	possibly damaging	Het
Rb1cc1	T	A	1: 6,315,727 (GRCm39)	F541I	probably damaging	Het
Rgsl1	C	A	1: 153,719,847 (GRCm39)		probably null	Het
Rhobtb2	C	T	14: 70,033,397 (GRCm39)	W524*	probably null	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rims1	A	G	1: 22,474,699 (GRCm39)	S211P		Het
Ripor2	A	T	13: 24,854,054 (GRCm39)	Q54L	possibly damaging	Het
Rnf213	A	G	11: 119,372,117 (GRCm39)	I4903V		Het
Robo3	T	A	9: 37,336,111 (GRCm39)	I452F	possibly damaging	Het
Rpl27rt	A	G	18: 34,870,580 (GRCm39)	K38R	probably damaging	Het
Seh1l	C	T	18: 67,916,988 (GRCm39)	H56Y	probably damaging	Het
Sema3b	T	A	9: 107,480,162 (GRCm39)	D192V	probably damaging	Het
Sidt1	A	T	16: 44,106,763 (GRCm39)	C222*	probably null	Het
Skor1	A	G	9: 63,053,385 (GRCm39)	F195L	probably damaging	Het
Slc44a2	A	C	9: 21,259,642 (GRCm39)	K596N	possibly damaging	Het
Smgc	A	G	15: 91,729,696 (GRCm39)	K217E	probably benign	Het
Socs7	C	A	11: 97,267,917 (GRCm39)	H349Q	possibly damaging	Het
Speer4f2	A	G	5: 17,581,540 (GRCm39)	T161A		Het
Spg11	T	C	2: 121,924,026 (GRCm39)		probably null	Het
Ssb	A	G	2: 69,693,624 (GRCm39)	T11A	probably benign	Het
Sun1	A	G	5: 139,232,589 (GRCm39)	S837G	probably damaging	Het
Szt2	A	C	4: 118,220,668 (GRCm39)	S3385A	unknown	Het
Tapbp	T	C	17: 34,139,391 (GRCm39)	V129A	possibly damaging	Het
Thsd1	T	C	8: 22,733,349 (GRCm39)	I132T	possibly damaging	Het
Tm6sf2	T	A	8: 70,530,589 (GRCm39)	V223E	possibly damaging	Het
Tm9sf4	T	A	2: 153,036,267 (GRCm39)	M343K	probably benign	Het
Trank1	C	A	9: 111,195,417 (GRCm39)	P1147Q	probably benign	Het
Trip4	G	A	9: 65,773,757 (GRCm39)	T275M	probably damaging	Het
Tsen34	T	C	7: 3,698,834 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,680,422 (GRCm39)	E1086G	unknown	Het
Ubr4	A	T	4: 139,189,778 (GRCm39)	M853L	unknown	Het
Ubxn11	A	T	4: 133,852,466 (GRCm39)	R352W	probably damaging	Het
Vmn1r35	G	A	6: 66,656,219 (GRCm39)		probably benign	Het
Vmn2r107	C	T	17: 20,595,994 (GRCm39)	T849I	probably benign	Het
Vmn2r93	C	A	17: 18,546,248 (GRCm39)	L707I	probably benign	Het
Wwc1	G	A	11: 35,766,533 (GRCm39)	T574I	probably benign	Het
Zfp143	A	G	7: 109,669,705 (GRCm39)	M45V	probably benign	Het
Zfp518a	T	A	19: 40,902,601 (GRCm39)	N843K	possibly damaging	Het
Zfp87	A	T	13: 67,665,163 (GRCm39)	M433K	probably benign	Het
Zfp873	C	A	10: 81,896,461 (GRCm39)	H397Q	probably damaging	Het
Zscan21	A	T	5: 138,116,110 (GRCm39)		probably benign	Het

Other mutations in Hcn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ACCCGCAGAGGATCAAGATG -3'
(R):5'- GATGCAATCTGTGAAACGCTTTG -3'

Sequencing Primer
(F):5'- AAGTACCTGAAAAGCTGGTTTGTG -3'
(R):5'- GTTCTCTGTGAGTACCCA -3'

Posted On

2019-10-07