Mutagenetix > Incidental Mutation

Incidental Mutation 'R6622:Hcn4'

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

Chromosomal Location

58823412-58863175 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58857727 bp (GRCm38)

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

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,244,222	A2563D	probably damaging	Het
6030419C18Rik	A	G	9: 58,499,250	I148V	probably benign	Het
Adgrl3	A	C	5: 81,794,759	D1412A	probably benign	Het
Arhgap26	A	G	18: 38,899,863		probably benign	Het
Card14	A	G	11: 119,333,988	M614V	probably benign	Het
Cbx2	A	G	11: 119,029,135	T509A	probably damaging	Het
Cep135	A	G	5: 76,640,968	D1136G	probably benign	Het
Cep170	T	A	1: 176,756,332	Q827L	probably damaging	Het
Clock	A	T	5: 76,241,954	I349K	probably damaging	Het
Cnppd1	A	T	1: 75,136,895	V243E	probably damaging	Het
Cops3	A	G	11: 59,833,134	F93L	probably damaging	Het
Cxxc5	T	G	18: 35,859,319	C258G	possibly damaging	Het
Cycs	G	A	6: 50,566,463		probably benign	Het
Cyp2c40	A	T	19: 39,802,546	H280Q	probably damaging	Het
Cyp4f14	C	T	17: 32,914,645	R79H	probably benign	Het
Dnajc27	A	G	12: 4,103,114	S197G	probably benign	Het
Dscam	C	T	16: 96,645,073	G1456E	probably benign	Het
Dst	G	A	1: 34,179,251	V1591I	probably benign	Het
Epha5	A	G	5: 84,237,528	S315P	possibly damaging	Het
Fam46a	G	T	9: 85,326,456	R105S	probably damaging	Het
Frmd4a	A	G	2: 4,606,062	T1012A	probably benign	Het
Fxr2	G	A	11: 69,641,590		probably null	Het
Gm12394	T	A	4: 42,793,111	L340F	probably damaging	Het
Hrh4	A	G	18: 13,022,397	Y331C	probably damaging	Het
Kif16b	T	A	2: 142,712,442	H812L	probably benign	Het
Krt14	T	A	11: 100,203,960	R451S	probably benign	Het
Man2b1	A	G	8: 85,084,479	T80A	probably damaging	Het
Nedd4l	A	G	18: 65,174,234	T383A	probably damaging	Het
Pcdha9	T	A	18: 36,998,654	L259M	possibly damaging	Het
Pdgfd	T	C	9: 6,293,818	C131R	probably damaging	Het
Prrc2a	C	G	17: 35,155,420	R1418P	probably damaging	Het
Ptpa	G	T	2: 30,437,577	E114D	probably damaging	Het
Ptprt	A	T	2: 161,553,840	C1157S	probably damaging	Het
Rnf126	A	T	10: 79,761,563		probably null	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sel1l3	A	G	5: 53,139,860	V748A	probably damaging	Het
Serinc5	T	A	13: 92,688,686	S208T	probably benign	Het
Sftpb	A	G	6: 72,305,655	I74V	possibly damaging	Het
Slc22a14	A	C	9: 119,170,577	I516S	possibly damaging	Het
Slco2a1	G	A	9: 103,074,505	C411Y	possibly damaging	Het
Tet3	G	A	6: 83,403,444	P581S	probably benign	Het
Tmem231	T	C	8: 111,918,931	D112G	probably damaging	Het
Tnrc6b	T	A	15: 80,879,184	W296R	probably damaging	Het
Trpm1	T	A	7: 64,240,595	L982H	probably damaging	Het
Ttn	C	A	2: 76,720,518	R23183I	possibly damaging	Het
Tuft1	T	A	3: 94,635,419	Y46F	probably damaging	Het
Vmn1r167	T	A	7: 23,505,589	M1L	probably null	Het
Zfp808	A	G	13: 62,171,832	R292G	possibly damaging	Het
Zp2	T	C	7: 120,132,525	E669G	probably benign	Het
Zp2	C	T	7: 120,141,913	M129I	probably benign	Het

Other mutations in Hcn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Hcn4	APN	9	58860053	missense	unknown
IGL00939:Hcn4	APN	9	58843927	missense	probably benign	0.39
IGL01154:Hcn4	APN	9	58859079	missense	unknown
IGL01408:Hcn4	APN	9	58859886	missense	unknown
IGL02658:Hcn4	APN	9	58859465	missense	unknown
IGL02877:Hcn4	APN	9	58859167	missense	unknown
IGL03211:Hcn4	APN	9	58858151	missense	unknown
PIT1430001:Hcn4	UTSW	9	58859550	missense	unknown
R0049:Hcn4	UTSW	9	58860299	missense	probably damaging	0.98
R0268:Hcn4	UTSW	9	58860162	missense	unknown
R0812:Hcn4	UTSW	9	58823512	start codon destroyed	probably null
R2121:Hcn4	UTSW	9	58824058	missense	unknown
R3035:Hcn4	UTSW	9	58823680	missense	unknown
R3715:Hcn4	UTSW	9	58844036	missense	unknown
R3737:Hcn4	UTSW	9	58843889	missense	probably benign	0.39
R3958:Hcn4	UTSW	9	58844048	missense	unknown
R4035:Hcn4	UTSW	9	58843889	missense	probably benign	0.39
R4393:Hcn4	UTSW	9	58844300	missense	unknown
R4418:Hcn4	UTSW	9	58843895	missense	probably benign	0.39
R4532:Hcn4	UTSW	9	58857798	missense	unknown
R4765:Hcn4	UTSW	9	58857977	missense	unknown
R4857:Hcn4	UTSW	9	58859570	missense	unknown
R4967:Hcn4	UTSW	9	58859828	missense	unknown
R5068:Hcn4	UTSW	9	58860021	missense	unknown
R5253:Hcn4	UTSW	9	58824275	missense	unknown
R5304:Hcn4	UTSW	9	58843932	missense	probably benign	0.39
R5600:Hcn4	UTSW	9	58859293	splice site	probably null
R6346:Hcn4	UTSW	9	58859044	missense	unknown
R6575:Hcn4	UTSW	9	58824152	missense	unknown
R6967:Hcn4	UTSW	9	58823945	missense	unknown
R7038:Hcn4	UTSW	9	58823584	missense	unknown
R7054:Hcn4	UTSW	9	58855717	missense	unknown
R7229:Hcn4	UTSW	9	58853399	missense	unknown
R7407:Hcn4	UTSW	9	58859370	missense	unknown
R7448:Hcn4	UTSW	9	58844299	missense	unknown
R7531:Hcn4	UTSW	9	58860137	missense	unknown
R7572:Hcn4	UTSW	9	58823780	missense	unknown
R7680:Hcn4	UTSW	9	58860671	missense	probably benign	0.08
R7915:Hcn4	UTSW	9	58823935	missense	unknown
R7956:Hcn4	UTSW	9	58844173	missense	unknown
R8146:Hcn4	UTSW	9	58823744	missense	unknown
R8234:Hcn4	UTSW	9	58844150	missense	unknown
R8421:Hcn4	UTSW	9	58858096	missense	unknown
R8690:Hcn4	UTSW	9	58843910	missense	probably benign	0.39
R8855:Hcn4	UTSW	9	58858104	missense	unknown
R8884:Hcn4	UTSW	9	58853422	missense	unknown
R9017:Hcn4	UTSW	9	58824199	missense	unknown
R9151:Hcn4	UTSW	9	58860597	missense	possibly damaging	0.94
R9331:Hcn4	UTSW	9	58860422	missense	probably damaging	0.97
R9433:Hcn4	UTSW	9	58823939	missense	unknown
R9523:Hcn4	UTSW	9	58859526	missense	unknown
R9541:Hcn4	UTSW	9	58860402	missense	probably damaging	1.00
R9730:Hcn4	UTSW	9	58824210	missense	unknown
R9748:Hcn4	UTSW	9	58823713	missense	unknown
R9753:Hcn4	UTSW	9	58844036	missense	unknown
R9795:Hcn4	UTSW	9	58853479	nonsense	probably null
RF011:Hcn4	UTSW	9	58859915	missense	unknown
X0009:Hcn4	UTSW	9	58860759	nonsense	probably null
X0057:Hcn4	UTSW	9	58859368	missense	unknown
Z1176:Hcn4	UTSW	9	58858148	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