Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00939:Hcn4'

28188

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00939

Quality Score

Status

Chromosome

Chromosomal Location

58730695-58770458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58751210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 279 (I279V)

Ref Sequence

ENSEMBL: ENSMUSP00000034889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034889]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034889
AA Change: I279V

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034889
Gene: ENSMUSG00000032338
AA Change: I279V

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

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	A	5: 35,981,359 (GRCm39)		probably benign	Het
Ash1l	T	C	3: 88,942,543 (GRCm39)	V2061A	probably damaging	Het
Csnk1a1	A	G	18: 61,708,521 (GRCm39)	D194G	probably damaging	Het
Dop1b	T	A	16: 93,570,971 (GRCm39)	S1657T	possibly damaging	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Lamb1	T	C	12: 31,352,926 (GRCm39)	S828P	probably damaging	Het
Morc1	G	A	16: 48,272,952 (GRCm39)	C193Y	probably damaging	Het
Nudt16l1	T	C	16: 4,757,299 (GRCm39)	F71L	probably benign	Het
Nup50	T	G	15: 84,822,621 (GRCm39)	L381*	probably null	Het
Pccb	A	G	9: 100,867,922 (GRCm39)	S372P	probably damaging	Het
Rnf19b	A	G	4: 128,965,582 (GRCm39)	R227G	probably damaging	Het
Ror1	A	G	4: 100,298,423 (GRCm39)	I599V	probably benign	Het
Sipa1l2	A	G	8: 126,191,174 (GRCm39)		probably benign	Het
Sowahb	A	T	5: 93,191,701 (GRCm39)	D339E	probably benign	Het
Ssc5d	C	T	7: 4,939,280 (GRCm39)	T572I	possibly damaging	Het
Tnn	A	G	1: 159,975,100 (GRCm39)	L109P	probably damaging	Het
Ttn	T	C	2: 76,540,425 (GRCm39)	Q34187R	possibly damaging	Het
Ube2j2	A	G	4: 156,040,904 (GRCm39)	E177G	possibly damaging	Het
Vmn2r103	A	G	17: 20,015,227 (GRCm39)	T456A	probably benign	Het
Wdr1	T	C	5: 38,692,666 (GRCm39)	T80A	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
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
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

Posted On

2013-04-17