Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01154:Hcn4'

52024

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 #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

58823412-58863175 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58859079 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 677 (T677A)

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: T677A

SMART Domains

Protein: ENSMUSP00000034889
Gene: ENSMUSG00000032338
AA Change: T677A

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,281,094	F767V	probably benign	Het
A2m	C	A	6: 121,673,542	S1203*	probably null	Het
Abcc3	T	C	11: 94,359,232		probably benign	Het
Adamts13	T	C	2: 27,006,194	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,520,373	D51G	probably damaging	Het
Apc2	A	G	10: 80,313,069	E1319G	possibly damaging	Het
Arap3	A	T	18: 37,996,734	S125T	probably benign	Het
Atp2b1	T	A	10: 98,996,888	V417E	probably damaging	Het
Bpifa1	T	A	2: 154,144,000	D78E	probably benign	Het
Catsperb	C	A	12: 101,625,681	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,723,961	T138K	probably damaging	Het
Cenpf	T	A	1: 189,680,333	E244D	probably benign	Het
Cep135	A	T	5: 76,606,796		probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnah5	A	T	15: 28,458,656	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,690,060		probably null	Het
Flt1	A	G	5: 147,576,156	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074	M469V	probably benign	Het
Fxr2	T	C	11: 69,641,433		probably benign	Het
Gm10801	A	T	2: 98,663,983	Y135F	probably benign	Het
Grm4	A	T	17: 27,434,737	C699*	probably null	Het
Igkv9-123	G	T	6: 67,954,534		probably benign	Het
Irf4	T	A	13: 30,757,421	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,590,679		probably benign	Het
Kmt2c	A	G	5: 25,284,399	V1134A	probably damaging	Het
Limch1	G	T	5: 66,745,958	E17*	probably null	Het
Nap1l1	T	A	10: 111,486,675	N72K	probably damaging	Het
Olfr1265	T	C	2: 90,037,468	L183P	probably damaging	Het
Olfr574	T	C	7: 102,948,839	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,541,233	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,343,179	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,882,211	A197V	probably benign	Het
Psg25	C	T	7: 18,524,699	D351N	probably benign	Het
Sbno1	A	T	5: 124,410,249	I87N	probably damaging	Het
Stfa2l1	C	T	16: 36,159,937		probably benign	Het
Sugp2	T	A	8: 70,242,699	D107E	probably damaging	Het
Syne1	G	T	10: 5,360,848	F576L	probably damaging	Het
Syne3	A	G	12: 104,958,069	F357S	probably benign	Het
Tenm2	A	G	11: 36,041,544	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473	K117*	probably null	Het
Tram1	C	T	1: 13,579,449		probably null	Het
Trank1	T	A	9: 111,386,400	D1799E	probably benign	Het
Ttc14	A	T	3: 33,803,099	Y198F	probably benign	Het
Ube3b	A	G	5: 114,406,252	N570S	probably null	Het
Ube4b	A	G	4: 149,365,470	F412S	probably benign	Het
Vac14	T	C	8: 110,653,607		probably benign	Het
Vmn2r65	T	C	7: 84,943,521	T493A	probably benign	Het
Zfp408	T	C	2: 91,648,006		probably benign	Het
Zfp580	C	T	7: 5,053,268	T209I	possibly damaging	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
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
R6622:Hcn4	UTSW	9	58857727	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

Posted On

2013-06-21