Mutagenetix > Incidental Mutation

Incidental Mutation 'R4765:Hcn4'

366067

Institutional Source

Beutler Lab

Gene Symbol

Hcn4

Ensembl Gene

ENSMUSG00000032338

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 4

Synonyms

MMRRC Submission

042406-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58823412-58863175 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58857977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 581 (I581F)

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: I581F

SMART Domains

Protein: ENSMUSP00000034889
Gene: ENSMUSG00000032338
AA Change: I581F

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,881,161	R490C	probably benign	Het
Abcb11	A	T	2: 69,245,867	F1166I	probably damaging	Het
Acta2	T	C	19: 34,246,152	D181G	probably damaging	Het
Adgrv1	A	G	13: 81,106,919	I6195T	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ankfy1	T	G	11: 72,712,291	S49A	probably benign	Het
Azi2	A	T	9: 118,061,471		probably benign	Het
Bend3	A	T	10: 43,510,750	S380C	probably damaging	Het
Bicc1	T	C	10: 70,940,593	T759A	probably damaging	Het
Cdh10	G	T	15: 19,013,278	V655L	probably damaging	Het
Cdkn2aip	C	A	8: 47,713,547	W75L	probably damaging	Het
Cenpj	G	A	14: 56,549,545	R192*	probably null	Het
Cflar	T	C	1: 58,732,321	S203P	probably damaging	Het
Chd6	A	T	2: 160,966,244	C1683*	probably null	Het
Cpsf2	A	G	12: 101,997,440	Y476C	probably damaging	Het
Cyp4a12a	A	G	4: 115,326,191	D169G	possibly damaging	Het
D430041D05Rik	T	A	2: 104,214,096	R1536S	probably damaging	Het
Depdc5	A	C	5: 32,937,635	D752A	probably damaging	Het
Dnah9	C	T	11: 65,927,726	G78D	probably damaging	Het
Drc1	G	T	5: 30,348,731	Q249H	probably benign	Het
Drg1	T	C	11: 3,250,280	I364V	probably benign	Het
Dtymk	T	C	1: 93,792,909	H130R	probably damaging	Het
Elac2	T	G	11: 64,992,222	F140V	probably damaging	Het
Enpp2	A	G	15: 54,875,672	V353A	possibly damaging	Het
Fat2	T	C	11: 55,281,187	D2900G	probably damaging	Het
Fermt2	G	T	14: 45,462,236	T536K	probably benign	Het
Foxj2	G	T	6: 122,833,271	Q196H	probably benign	Het
Gadl1	A	G	9: 115,966,313	K328R	probably null	Het
Gata6	A	G	18: 11,054,394	T108A	probably benign	Het
Gm16503	G	T	4: 147,541,097	G16V	unknown	Het
Gpr37	T	G	6: 25,669,108	E579A	probably damaging	Het
Gps2	T	C	11: 69,916,361		probably benign	Het
Hfm1	T	A	5: 106,842,539	Y1335F	probably benign	Het
Igsf10	A	T	3: 59,329,705	S1018R	probably benign	Het
Katnal2	C	T	18: 76,977,543		probably null	Het
Kctd8	T	C	5: 69,340,848	K152E	possibly damaging	Het
Lrp8	T	C	4: 107,854,395	C459R	probably damaging	Het
Ly6l	A	T	15: 75,449,694	I48L	probably benign	Het
Megf10	A	T	18: 57,287,794	I835F	possibly damaging	Het
Mei1	A	T	15: 82,112,485	I946F	possibly damaging	Het
Mkl2	C	A	16: 13,412,594	P1048T	probably damaging	Het
Myo7b	G	C	18: 31,961,900	L1881V	probably benign	Het
Nfkbiz	T	C	16: 55,819,024		probably null	Het
Olfr142	T	A	2: 90,252,463	Y175F	probably damaging	Het
Olfr1449	T	C	19: 12,935,076	C113R	possibly damaging	Het
Pcdhgc5	T	C	18: 37,822,069	S799P	probably benign	Het
Plk4	A	G	3: 40,802,022	E97G	probably damaging	Het
Pole2	A	T	12: 69,222,052	H114Q	possibly damaging	Het
Rad9a	C	A	19: 4,200,489	V109L	probably benign	Het
Scn8a	A	G	15: 101,040,471	H1917R	probably benign	Het
Scyl2	C	T	10: 89,659,298	V304I	probably damaging	Het
Serpina3f	G	C	12: 104,219,431	E298D	probably benign	Het
Shoc2	A	G	19: 53,988,303	E208G	probably benign	Het
Sin3a	G	A	9: 57,096,803	V280I	probably benign	Het
Slc26a2	A	T	18: 61,199,486	I291N	probably damaging	Het
Slc4a7	T	G	14: 14,762,414	D600E	probably damaging	Het
Slc5a6	A	T	5: 31,038,083	F430L	possibly damaging	Het
Snx19	A	C	9: 30,440,157	Q840H	probably damaging	Het
Spast	C	A	17: 74,369,216	D340E	probably damaging	Het
Sprr4	G	A	3: 92,500,409	P29S	unknown	Het
Stk11ip	T	G	1: 75,527,155	L239R	probably damaging	Het
Thoc6	A	G	17: 23,670,888	L20P	probably damaging	Het
Tnfrsf8	A	T	4: 145,296,877	S129T	probably benign	Het
Tnrc6c	A	G	11: 117,742,927	I1284V	probably benign	Het
Ttn	A	G	2: 76,710,987	L33885P	probably damaging	Het
Ttn	T	C	2: 76,772,507	Y16711C	probably damaging	Het
Ubn2	T	A	6: 38,479,140	C501S	probably damaging	Het
Ubr1	A	T	2: 120,963,442	L87*	probably null	Het
Uhmk1	T	C	1: 170,199,901	Y320C	probably damaging	Het
Vldlr	T	C	19: 27,240,547	V465A	probably damaging	Het
Vmn1r1	C	T	1: 182,157,906	A65T	probably benign	Het
Vmn2r25	C	T	6: 123,823,223	C720Y	probably damaging	Het
Xrra1	T	C	7: 99,906,568	Y381H	probably benign	Het
Zfhx4	T	C	3: 5,400,152	L1790P	probably benign	Het
Zscan4d	T	A	7: 11,162,667	M259L	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
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

Predicted Primers

PCR Primer
(F):5'- TCCATGACTACTATGAACACCG -3'
(R):5'- TGTTGCCCTTAGTGAGCACG -3'

Sequencing Primer
(F):5'- CCGCTACCAAGGCAAGATGTTTG -3'
(R):5'- TTAGTGAGCACGCTGACCAC -3'

Posted On

2015-12-21