Mutagenetix > Incidental Mutation

Incidental Mutation 'R7038:Hcn4'

546862

Institutional Source

Beutler Lab

Gene Symbol

Hcn4

Ensembl Gene

ENSMUSG00000032338

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 4

Synonyms

MMRRC Submission

045138-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7038 (G1)

Quality Score

125.008

Status

Not validated

Chromosome

Chromosomal Location

58730695-58770458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58730867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 25 (I25F)

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: I25F

SMART Domains

Protein: ENSMUSP00000034889
Gene: ENSMUSG00000032338
AA Change: I25F

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (101/102)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,468,979 (GRCm39)	S748P	possibly damaging	Het
Alppl2	T	C	1: 87,016,833 (GRCm39)	D104G	probably damaging	Het
Als2	C	A	1: 59,206,673 (GRCm39)	W1590L	possibly damaging	Het
Aopep	G	T	13: 63,338,339 (GRCm39)	V571F	possibly damaging	Het
Aplf	C	T	6: 87,630,805 (GRCm39)	W210*	probably null	Het
Ash1l	A	T	3: 88,889,978 (GRCm39)	H619L	probably benign	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Bpifb1	G	T	2: 154,044,589 (GRCm39)	V19F	probably damaging	Het
Capn1	A	T	19: 6,064,349 (GRCm39)	L50Q	probably benign	Het
Carmil1	A	G	13: 24,323,318 (GRCm39)	S245P	probably damaging	Het
Cavin4	A	G	4: 48,672,479 (GRCm39)	H308R	probably benign	Het
Cd4	C	T	6: 124,847,217 (GRCm39)	V316M	probably damaging	Het
Cdcp1	T	C	9: 123,002,662 (GRCm39)	Y803C	probably damaging	Het
Cep295nl	A	G	11: 118,223,815 (GRCm39)	I343T	probably benign	Het
Cgn	T	G	3: 94,670,392 (GRCm39)	T1021P	possibly damaging	Het
Cilk1	C	T	9: 78,016,484 (GRCm39)		probably benign	Het
Col6a5	A	G	9: 105,822,937 (GRCm39)	V140A	unknown	Het
Cops8	T	C	1: 90,531,320 (GRCm39)		probably benign	Het
Crhbp	A	G	13: 95,580,699 (GRCm39)	Y54H	probably damaging	Het
Cyp2c29	G	A	19: 39,275,571 (GRCm39)	V4I	probably benign	Het
Cyp2j6	T	A	4: 96,423,708 (GRCm39)	Y220F	probably benign	Het
D130043K22Rik	A	G	13: 25,077,391 (GRCm39)	D1008G	probably damaging	Het
Ddx47	T	A	6: 135,000,336 (GRCm39)	V444E	possibly damaging	Het
Dnttip2	T	A	3: 122,070,181 (GRCm39)	C465*	probably null	Het
Dst	C	A	1: 34,221,879 (GRCm39)	S2561*	probably null	Het
Dstyk	T	C	1: 132,381,847 (GRCm39)	S534P	probably benign	Het
Eif4e	A	G	3: 138,232,943 (GRCm39)		probably benign	Het
Eipr1	C	T	12: 28,801,817 (GRCm39)		probably benign	Het
Fastkd2	T	A	1: 63,771,032 (GRCm39)	D129E	possibly damaging	Het
Fndc3b	C	T	3: 27,555,618 (GRCm39)	G312D	probably benign	Het
Gab2	T	A	7: 96,952,290 (GRCm39)	I562N	probably damaging	Het
Gata5	C	A	2: 179,975,685 (GRCm39)	D160Y	possibly damaging	Het
Gcn1	G	A	5: 115,749,203 (GRCm39)	V1912I	probably damaging	Het
Gdf5	C	A	2: 155,786,655 (GRCm39)	Q107H	probably damaging	Het
Gdpd1	A	G	11: 86,926,118 (GRCm39)	Y276H	probably damaging	Het
Gins1	A	G	2: 150,759,791 (GRCm39)	Y81C	probably damaging	Het
Gm28360	T	C	1: 117,781,329 (GRCm39)	C107R	probably damaging	Het
Hadha	T	C	5: 30,324,998 (GRCm39)		probably null	Het
Hectd4	A	G	5: 121,437,660 (GRCm39)	Y1095C	possibly damaging	Het
Hsp90b1	A	T	10: 86,531,730 (GRCm39)	L73Q	probably damaging	Het
Hspa12a	A	G	19: 58,793,132 (GRCm39)	V351A	probably damaging	Het
Htr1b	T	A	9: 81,514,296 (GRCm39)	M104L	probably benign	Het
Igf2r	T	C	17: 12,917,212 (GRCm39)	T1563A	probably benign	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Liph	A	T	16: 21,795,009 (GRCm39)	V201E	probably damaging	Het
Ltn1	T	C	16: 87,221,759 (GRCm39)	D196G	probably damaging	Het
Med15	C	T	16: 17,470,591 (GRCm39)	D589N	possibly damaging	Het
Mknk1	A	G	4: 115,714,307 (GRCm39)	D26G	probably damaging	Het
Mpi	T	C	9: 57,452,500 (GRCm39)	D344G	probably damaging	Het
Mrc2	A	G	11: 105,223,062 (GRCm39)	E435G	possibly damaging	Het
Mrps5	A	G	2: 127,442,786 (GRCm39)	E285G	probably damaging	Het
Ms4a20	A	T	19: 11,087,675 (GRCm39)	F85L	probably benign	Het
Muc16	T	A	9: 18,531,764 (GRCm39)	M6197L	probably damaging	Het
Myo3b	A	T	2: 69,925,552 (GRCm39)	E34D	probably benign	Het
Nsd3	T	C	8: 26,131,279 (GRCm39)	S215P	probably damaging	Het
Nsmce2	T	A	15: 59,368,679 (GRCm39)		probably benign	Het
Ntan1	T	C	16: 13,644,774 (GRCm39)	S37P	probably benign	Het
Nup210l	T	A	3: 90,067,254 (GRCm39)	Y765N	probably damaging	Het
Or10q12	A	T	19: 13,745,715 (GRCm39)	D3V	probably benign	Het
Or2aa1	T	C	11: 59,480,408 (GRCm39)	Y169C	possibly damaging	Het
Or4s2b	A	T	2: 88,509,085 (GRCm39)	R288S	probably damaging	Het
Or7g30	A	C	9: 19,352,888 (GRCm39)	L226F	possibly damaging	Het
Pald1	T	C	10: 61,175,078 (GRCm39)	H724R	probably benign	Het
Pcdhb7	A	T	18: 37,475,257 (GRCm39)	D131V	possibly damaging	Het
Pds5b	G	T	5: 150,724,225 (GRCm39)	R1269S	probably benign	Het
Pikfyve	T	C	1: 65,273,520 (GRCm39)	V645A	probably damaging	Het
Plag1	G	T	4: 3,904,676 (GRCm39)	H172N	probably damaging	Het
Plch2	G	C	4: 155,074,489 (GRCm39)		probably null	Het
Plxnb1	T	A	9: 108,929,453 (GRCm39)	V103E	probably damaging	Het
Prpf8	T	A	11: 75,386,984 (GRCm39)	M1143K	probably benign	Het
Ptpn18	T	A	1: 34,498,906 (GRCm39)	M1K	probably null	Het
Rasgrf2	G	A	13: 92,130,952 (GRCm39)	T703I	possibly damaging	Het
Rassf6	A	T	5: 90,757,584 (GRCm39)	H125Q	probably benign	Het
Sdad1	A	G	5: 92,446,049 (GRCm39)		probably null	Het
Sf3a3	T	A	4: 124,622,219 (GRCm39)	F426L	probably benign	Het
Sgsm3	T	C	15: 80,892,576 (GRCm39)	F6L	possibly damaging	Het
Slc14a2	A	T	18: 78,202,252 (GRCm39)	I626N	probably damaging	Het
Slc17a8	T	C	10: 89,436,083 (GRCm39)	N165S	probably benign	Het
Slc41a1	C	A	1: 131,769,795 (GRCm39)	A305D	possibly damaging	Het
Smyd4	C	A	11: 75,281,340 (GRCm39)	P271Q	probably damaging	Het
Spag17	C	A	3: 99,891,925 (GRCm39)	H260N	probably benign	Het
Spata2	A	T	2: 167,327,283 (GRCm39)	V38E	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Syt14	T	A	1: 192,665,966 (GRCm39)		probably benign	Het
Tbx21	A	G	11: 96,990,597 (GRCm39)	S329P	probably damaging	Het
Tex2	A	T	11: 106,402,726 (GRCm39)		probably null	Het
Tmem62	A	G	2: 120,824,058 (GRCm39)	I244M	possibly damaging	Het
Tnks	A	T	8: 35,318,790 (GRCm39)	N830K	probably damaging	Het
Tox2	A	G	2: 163,156,264 (GRCm39)	E145G	probably damaging	Het
Tpcn1	T	C	5: 120,723,342 (GRCm39)	D7G	probably damaging	Het
Ttc28	T	A	5: 111,414,445 (GRCm39)	M1320K	probably benign	Het
Tubgcp5	T	G	7: 55,455,114 (GRCm39)	V270G	probably damaging	Het
Unc5a	A	G	13: 55,152,297 (GRCm39)	R62G	probably damaging	Het
Unc5d	A	G	8: 29,205,749 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,558,082 (GRCm39)	H1459R	probably damaging	Het
Vmn2r100	T	A	17: 19,725,263 (GRCm39)	L64Q	possibly damaging	Het
Wdr55	T	G	18: 36,893,473 (GRCm39)	L45R	probably damaging	Het
Zfp292	A	G	4: 34,816,357 (GRCm39)	Y306H	probably damaging	Het
Zfp398	G	T	6: 47,843,243 (GRCm39)	D300Y	probably damaging	Het
Zfp407	A	G	18: 84,579,982 (GRCm39)	V377A	probably damaging	Het
Zfp457	G	A	13: 67,441,997 (GRCm39)	H97Y	probably benign	Het
Zfp467	T	C	6: 48,415,072 (GRCm39)	T527A	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CGATCATGGGCTCGTGAG -3'
(R):5'- TCCACTTTGATAGCGGTGTC -3'

Sequencing Primer
(F):5'- CTCGTGAGGCAGCGAAG -3'
(R):5'- TTCCTCCGCGGAGTCATG -3'

Posted On

2019-05-13