Mutagenetix > Incidental Mutation

Incidental Mutation 'R8855:Hcn4'

675254

Institutional Source

Beutler Lab

Gene Symbol

Hcn4

Ensembl Gene

ENSMUSG00000032338

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 4

Synonyms

MMRRC Submission

068736-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58730695-58770458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58765387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 623 (I623N)

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: I623N

SMART Domains

Protein: ENSMUSP00000034889
Gene: ENSMUSG00000032338
AA Change: I623N

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 59,914,511 (GRCm39)	T38I	probably benign	Het
Ace	T	A	11: 105,861,424 (GRCm39)	L191*	probably null	Het
Ahctf1	G	A	1: 179,614,341 (GRCm39)	H451Y	probably damaging	Het
Amotl1	C	A	9: 14,466,869 (GRCm39)		probably null	Het
Angptl6	T	A	9: 20,786,940 (GRCm39)	Y261F	probably damaging	Het
Arhgap1	G	T	2: 91,499,744 (GRCm39)	S293I	probably benign	Het
Atg9a	A	C	1: 75,161,867 (GRCm39)	F560V	probably damaging	Het
B4galnt4	G	A	7: 140,648,488 (GRCm39)	G668D	possibly damaging	Het
Btaf1	T	A	19: 36,935,901 (GRCm39)	N230K	probably benign	Het
Ccne1	A	C	7: 37,800,046 (GRCm39)	H179Q	probably benign	Het
Cdk5rap2	A	T	4: 70,218,887 (GRCm39)	D623E	probably damaging	Het
Cenpf	C	A	1: 189,385,430 (GRCm39)	K2283N	probably benign	Het
Clec16a	A	T	16: 10,462,731 (GRCm39)	D683V	probably damaging	Het
Clvs2	T	C	10: 33,404,400 (GRCm39)	D272G	probably benign	Het
Cnksr1	A	G	4: 133,959,494 (GRCm39)	V380A	probably damaging	Het
Col20a1	C	A	2: 180,655,684 (GRCm39)	P42T		Het
Ddx47	A	G	6: 135,000,356 (GRCm39)	K451E	probably benign	Het
Dennd4a	G	A	9: 64,819,672 (GRCm39)	G1761D	probably benign	Het
Dnah11	T	A	12: 118,156,107 (GRCm39)	H181L	probably benign	Het
Dync1h1	T	C	12: 110,602,333 (GRCm39)	C2074R	probably damaging	Het
Ell2	A	T	13: 75,917,793 (GRCm39)	Q574H	probably damaging	Het
Enpp7	A	G	11: 118,879,191 (GRCm39)	N50S	possibly damaging	Het
Fbp2	T	C	13: 62,989,709 (GRCm39)	K199R	probably benign	Het
Fetub	A	T	16: 22,758,321 (GRCm39)	E368V	possibly damaging	Het
Flt1	A	T	5: 147,507,682 (GRCm39)	D1209E	probably benign	Het
Flt1	A	T	5: 147,618,460 (GRCm39)	N260K	probably damaging	Het
Fras1	A	G	5: 96,917,465 (GRCm39)	H3495R		Het
Fsip2	A	G	2: 82,810,521 (GRCm39)	Q2280R	probably benign	Het
Gja10	A	T	4: 32,601,573 (GRCm39)	C270*	probably null	Het
Gpld1	A	G	13: 25,170,890 (GRCm39)	T794A	probably benign	Het
Gsk3b	A	G	16: 38,004,900 (GRCm39)	Y157C	probably damaging	Het
Gsta2	T	C	9: 78,244,880 (GRCm39)	K78R	probably damaging	Het
Gtf3a	A	G	5: 146,885,721 (GRCm39)	D44G	probably benign	Het
Hap1	C	A	11: 100,246,864 (GRCm39)	G14W	probably damaging	Het
Kank1	T	C	19: 25,388,702 (GRCm39)	S792P	possibly damaging	Het
Klra5	A	T	6: 129,880,533 (GRCm39)	W212R	probably damaging	Het
Kmt2d	A	T	15: 98,754,237 (GRCm39)	L1622Q	unknown	Het
Lipi	T	A	16: 75,355,481 (GRCm39)	D343V	probably damaging	Het
Lrp6	A	T	6: 134,445,785 (GRCm39)	N1009K	probably benign	Het
Lrrc39	T	A	3: 116,363,790 (GRCm39)	I121N	probably damaging	Het
Mamstr	A	T	7: 45,294,403 (GRCm39)	D419V	probably benign	Het
Map2k7	C	T	8: 4,293,594 (GRCm39)	T119I	probably damaging	Het
Mov10l1	A	T	15: 88,896,169 (GRCm39)	D671V	probably benign	Het
Mrps24	A	T	11: 5,654,642 (GRCm39)	L104Q	probably damaging	Het
Myh1	T	A	11: 67,102,247 (GRCm39)	L846H	probably damaging	Het
Ndufaf5	T	A	2: 140,025,840 (GRCm39)	I133N	possibly damaging	Het
Ndufs5	A	G	4: 123,609,655 (GRCm39)		probably null	Het
Numa1	G	C	7: 101,639,835 (GRCm39)	D62H	possibly damaging	Het
Or10g3	A	T	14: 52,610,196 (GRCm39)	Y105N	probably damaging	Het
Or52e19	T	A	7: 102,959,168 (GRCm39)	I80N	probably damaging	Het
Or52p2	G	T	7: 102,237,945 (GRCm39)	Q2K	probably benign	Het
Or8b12c	C	G	9: 37,715,709 (GRCm39)	F167L	probably damaging	Het
Pag1	T	C	3: 9,764,529 (GRCm39)	K208R	probably benign	Het
Pkd1	T	C	17: 24,792,051 (GRCm39)	V1246A	probably damaging	Het
Plekhg2	T	C	7: 28,069,526 (GRCm39)	T144A	probably benign	Het
Plekhm2	A	T	4: 141,361,658 (GRCm39)	S262T	probably benign	Het
Pramel14	A	T	4: 143,720,905 (GRCm39)	L12Q	probably damaging	Het
Prpf4	A	G	4: 62,334,235 (GRCm39)	D230G	probably benign	Het
Rbm15b	C	T	9: 106,763,595 (GRCm39)	R191Q	probably benign	Het
Sec16a	G	A	2: 26,329,852 (GRCm39)	T721I	probably benign	Het
Serpinb6c	A	T	13: 34,083,309 (GRCm39)	I35N	probably damaging	Het
Sgk1	T	G	10: 21,871,726 (GRCm39)	S181A	probably benign	Het
Slc25a10	T	C	11: 120,385,795 (GRCm39)	S74P	probably damaging	Het
Slc30a3	C	A	5: 31,245,325 (GRCm39)	V332F	possibly damaging	Het
Smg1	A	G	7: 117,806,122 (GRCm39)	S240P	unknown	Het
Snapc4	G	A	2: 26,264,545 (GRCm39)	R265W	probably damaging	Het
Taar1	C	T	10: 23,796,976 (GRCm39)	R225C	possibly damaging	Het
Tmem74	A	G	15: 43,730,231 (GRCm39)	S271P	probably damaging	Het
Trank1	T	C	9: 111,141,289 (GRCm39)	V127A	unknown	Het
Trim66	G	T	7: 109,081,188 (GRCm39)	H244N	probably damaging	Het
Tshz2	T	A	2: 169,728,425 (GRCm39)	L1007H	probably damaging	Het
Ttc39c	A	T	18: 12,831,003 (GRCm39)	S288C	probably benign	Het
Twnk	C	T	19: 45,000,272 (GRCm39)	Q663*	probably null	Het
Ucn	T	A	5: 31,295,857 (GRCm39)	Q3L	probably benign	Het
Usp9y	C	T	Y: 1,395,758 (GRCm39)	R492H	probably damaging	Het
Vars1	T	C	17: 35,234,620 (GRCm39)	S1150P	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfand1	T	C	3: 10,405,811 (GRCm39)	D264G	probably benign	Het
Zfp839	A	G	12: 110,834,848 (GRCm39)	E701G	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
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
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
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'- AAAGCATCCTGGGTGAGCTG -3'
(R):5'- GGGTATCCCTCTAGCTTAGCTC -3'

Sequencing Primer
(F):5'- CTGAGTGAGCCACTTCGAGAG -3'
(R):5'- AGCTTAGCTCCCAGTCACC -3'

Posted On

2021-07-15