Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01621:Hcn3'

92597

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hcn3

Ensembl Gene

ENSMUSG00000028051

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 3

Synonyms

Hac3

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.382) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

89146074-89160196 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89147723 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 739 (S739Y)

Ref Sequence

ENSEMBL: ENSMUSP00000029686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029686] [ENSMUST00000047111] [ENSMUST00000107482]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029686
AA Change: S739Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051
AA Change: S739Y

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
Pfam:Ion_trans_N	48	91	1.3e-22	PFAM
Pfam:Ion_trans	92	357	3.7e-25	PFAM
low complexity region	358	369	N/A	INTRINSIC
Blast:cNMP	370	402	7e-14	BLAST
cNMP	427	540	2.32e-20	SMART
Blast:cNMP	548	588	2e-17	BLAST
low complexity region	636	656	N/A	INTRINSIC
low complexity region	698	717	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000047111

SMART Domains

Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:PK	85	438	6.9e-165	PFAM
Pfam:PK_C	453	571	3.6e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107482

SMART Domains

Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237

Domain	Start	End	E-Value	Type
Pfam:PK	54	407	3.1e-163	PFAM
Pfam:PK_C	421	541	4.9e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133368

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 multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ventricular action potential waveform. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 63,898,383	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 90,064,502	M56K	possibly damaging	Het
5730559C18Rik	C	A	1: 136,219,775	A402S	probably damaging	Het
A730017C20Rik	A	G	18: 59,062,386	M1V	probably null	Het
Abca6	A	G	11: 110,184,708	L1319S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aloxe3	A	G	11: 69,130,013	N188S	probably benign	Het
Ap1s1	G	A	5: 137,041,804	R119*	probably null	Het
Apc2	T	G	10: 80,306,201	L318R	probably damaging	Het
Atg101	A	G	15: 101,287,095	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,015,868		probably benign	Het
Bpifb9b	C	A	2: 154,316,951		probably null	Het
Braf	A	T	6: 39,646,853		probably benign	Het
Cabp5	A	G	7: 13,401,264	D43G	probably damaging	Het
Cfap46	T	C	7: 139,606,607	N2462S	unknown	Het
Cit	C	T	5: 115,992,603		probably benign	Het
Cpa4	T	C	6: 30,574,416	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,629,554	I474V	probably benign	Het
Dennd1a	C	A	2: 37,844,809	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,148,221	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,680,840	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897		probably null	Het
E2f6	A	G	12: 16,825,368	D268G	probably benign	Het
Evi2b	T	A	11: 79,516,300	T150S	probably damaging	Het
F13b	A	G	1: 139,503,851	D53G	probably benign	Het
Fbxo38	G	A	18: 62,522,524		probably benign	Het
Flnb	C	T	14: 7,950,470	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Gm13023	T	C	4: 143,793,932	F85L	probably benign	Het
Gm21759	A	G	5: 8,179,775		probably benign	Het
Gtse1	A	G	15: 85,875,082	N597S	probably benign	Het
Ighv9-4	T	A	12: 114,299,992	N107I	probably damaging	Het
Iqub	T	C	6: 24,446,212	K738E	probably benign	Het
Itga6	A	T	2: 71,825,656	D308V	probably benign	Het
Klf12	T	C	14: 100,023,149	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,358,816	*351Q	probably null	Het
Krt40	A	T	11: 99,542,868	N97K	probably damaging	Het
Lrit1	A	C	14: 37,060,155	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,510,910	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 132,054,143	S149P	probably benign	Het
Mipep	A	G	14: 60,796,165		probably benign	Het
Mslnl	A	G	17: 25,743,667		probably benign	Het
N4bp2	A	T	5: 65,790,924	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221	P190S	probably benign	Het
Nos1	T	A	5: 117,945,884	I1253N	probably damaging	Het
Nup210	G	T	6: 91,030,117	F572L	probably damaging	Het
Olfr1381	T	C	11: 49,552,137	L130P	probably damaging	Het
Olfr370	T	C	8: 83,541,618	V158A	probably benign	Het
Olfr390	T	C	11: 73,787,277	F113S	probably damaging	Het
P4htm	T	A	9: 108,583,736	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,504,807	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,685,422	E240G	probably benign	Het
Pex5l	T	C	3: 33,014,961		probably null	Het
Plcd1	T	C	9: 119,076,178	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,372,099	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,835,092	Q386L	possibly damaging	Het
Prpf40b	A	G	15: 99,310,045		probably benign	Het
Rdh11	C	T	12: 79,186,413		probably null	Het
Ripor3	A	T	2: 167,997,252	S110T	probably damaging	Het
Sec24d	G	A	3: 123,294,158		probably null	Het
Secisbp2l	T	C	2: 125,773,211	S165G	probably benign	Het
Shank1	C	T	7: 44,342,465	A698V	unknown	Het
Shank1	T	C	7: 44,351,599	M914T	unknown	Het
Slc22a3	T	C	17: 12,458,492	Q263R	probably benign	Het
Smc1a	C	A	X: 152,036,129	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,846,861		probably benign	Het
Tacc2	C	A	7: 130,729,768	T484K	probably damaging	Het
Ubr4	G	T	4: 139,440,783	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,308,605	M163I	probably benign	Het
Zfp69	T	A	4: 120,931,500	K206M	probably damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	probably damaging	Het

Other mutations in Hcn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02285:Hcn3	APN	3	89152812	missense	probably damaging	1.00
IGL02557:Hcn3	APN	3	89149871	missense	probably damaging	1.00
R0027:Hcn3	UTSW	3	89159825	missense	probably damaging	0.99
R0189:Hcn3	UTSW	3	89148800	missense	probably damaging	0.98
R0442:Hcn3	UTSW	3	89151540	missense	probably damaging	0.97
R0454:Hcn3	UTSW	3	89152894	missense	probably damaging	0.98
R0732:Hcn3	UTSW	3	89148786	missense	probably damaging	1.00
R1732:Hcn3	UTSW	3	89148119	missense	probably damaging	0.97
R1900:Hcn3	UTSW	3	89148263	missense	probably benign	0.00
R2277:Hcn3	UTSW	3	89147861	missense	probably benign	0.02
R2279:Hcn3	UTSW	3	89147861	missense	probably benign	0.02
R2331:Hcn3	UTSW	3	89148090	missense	probably benign	0.01
R2916:Hcn3	UTSW	3	89147613	missense	probably benign
R2918:Hcn3	UTSW	3	89147613	missense	probably benign
R4604:Hcn3	UTSW	3	89150440	missense	probably damaging	1.00
R4749:Hcn3	UTSW	3	89150063	splice site	probably null
R5095:Hcn3	UTSW	3	89149923	missense	probably damaging	0.99
R5776:Hcn3	UTSW	3	89148105	missense	probably benign	0.03
R5984:Hcn3	UTSW	3	89148263	missense	probably benign	0.00
R6389:Hcn3	UTSW	3	89150933	missense	possibly damaging	0.70
R6736:Hcn3	UTSW	3	89152674	missense	probably damaging	1.00
R6860:Hcn3	UTSW	3	89159845	missense	possibly damaging	0.73
R6909:Hcn3	UTSW	3	89152629	critical splice donor site	probably null
R7549:Hcn3	UTSW	3	89150000	missense	probably null	0.51

Posted On

2013-12-09