Mutagenetix > Incidental Mutation

Incidental Mutation 'R1997:Kcnh1'

224272

Institutional Source

Beutler Lab

Gene Symbol

Kcnh1

Ensembl Gene

ENSMUSG00000058248

Gene Name

potassium voltage-gated channel, subfamily H (eag-related), member 1

Synonyms

Kv10.1, Eag1, ether a go-go

MMRRC Submission

040007-MU

Accession Numbers

Genbank: NM_010600, NM_001038607; MGI: 1341721

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R1997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

192190774-192510159 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 192276935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 266 (V266I)

Ref Sequence

ENSEMBL: ENSMUSP00000106468 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078470] [ENSMUST00000110844]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078470
AA Change: V266I

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077563
Gene: ENSMUSG00000058248
AA Change: V266I

Domain	Start	End	E-Value	Type
PAS	16	92	2.65e0	SMART
PAC	94	136	3.67e-9	SMART
Pfam:Ion_trans	217	510	2.2e-40	PFAM
Pfam:Ion_trans_2	422	504	7e-14	PFAM
cNMP	581	699	2.2e-21	SMART
low complexity region	714	726	N/A	INTRINSIC
coiled coil region	928	958	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110844
AA Change: V266I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106468
Gene: ENSMUSG00000058248
AA Change: V266I

Domain	Start	End	E-Value	Type
PAS	16	92	2.65e0	SMART
PAC	94	136	3.67e-9	SMART
transmembrane domain	219	241	N/A	INTRINSIC
Pfam:Ion_trans	252	471	3.4e-27	PFAM
Pfam:Ion_trans_2	395	477	3.7e-14	PFAM
cNMP	554	672	2.2e-21	SMART
low complexity region	687	699	N/A	INTRINSIC
coiled coil region	901	931	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit a decreased depressive-like response during tail suspension testing. Mice homozygous for a different knock-out allele exhibit longer latency to move in haloperidol-treated mice and mild hyperactivity. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,932,429	Q536L	probably damaging	Het
3425401B19Rik	A	G	14: 32,660,048	F1320S	possibly damaging	Het
Aaas	C	T	15: 102,340,059	V241I	probably benign	Het
Abca17	A	G	17: 24,285,726	I1233T	probably benign	Het
Acin1	T	C	14: 54,646,699		probably null	Het
Acly	A	T	11: 100,519,151	I185N	probably damaging	Het
Adamts16	T	C	13: 70,753,267	D897G	probably benign	Het
Allc	A	C	12: 28,563,483	D153E	probably benign	Het
Ankrd12	A	G	17: 65,984,884	S1185P	probably damaging	Het
Ap1g2	T	C	14: 55,102,378	E448G	probably benign	Het
Atg9a	A	T	1: 75,189,626	V50D	probably benign	Het
Bace2	A	T	16: 97,415,089	D294V	possibly damaging	Het
Camsap2	T	C	1: 136,271,545	K708E	probably damaging	Het
Card10	G	A	15: 78,793,975	R358C	probably damaging	Het
Ccdc81	A	T	7: 89,898,063	V39E	probably damaging	Het
Cdh7	A	T	1: 110,048,938	D111V	probably damaging	Het
Cercam	C	A	2: 29,872,923	T223K	probably benign	Het
Cog5	A	G	12: 31,660,849	H76R	possibly damaging	Het
Col28a1	A	T	6: 7,999,644	N1024K	probably benign	Het
Csrnp3	A	T	2: 65,949,102	N41Y	probably damaging	Het
Cyp2t4	G	A	7: 27,157,613		probably null	Het
Dbn1	T	C	13: 55,482,441	H38R	probably damaging	Het
Dclre1b	A	G	3: 103,803,356	V287A	probably benign	Het
Dennd4c	A	G	4: 86,837,397	T1609A	probably benign	Het
Depdc5	T	A	5: 32,901,906		probably null	Het
Dhcr7	T	G	7: 143,847,430	D446E	probably damaging	Het
Dlx5	A	T	6: 6,879,680	M129K	possibly damaging	Het
Dnah11	C	G	12: 118,082,468	G1745A	possibly damaging	Het
Dnm3	T	C	1: 162,353,712	T133A	possibly damaging	Het
Eif3e	A	G	15: 43,265,609	L205P	probably damaging	Het
Fam166a	T	G	2: 25,220,205	L43R	probably damaging	Het
Fam91a1	A	G	15: 58,424,195		probably null	Het
Fank1	C	T	7: 133,862,225	T50I	probably damaging	Het
Fhod3	A	G	18: 25,090,416	T940A	possibly damaging	Het
Fkbp10	T	C	11: 100,416,015	F78L	probably damaging	Het
Gabbr2	A	C	4: 46,787,502	F387C	probably damaging	Het
Ggnbp2	A	T	11: 84,860,561	L138I	probably damaging	Het
Gm2832	T	A	14: 41,280,986		probably null	Het
Gm38394	A	G	1: 133,656,713	L962P	probably damaging	Het
Gm5084	T	A	13: 60,212,530		noncoding transcript	Het
Gm9979	T	C	13: 40,705,752		noncoding transcript	Het
Hepacam2	A	G	6: 3,487,241	S39P	probably damaging	Het
Hesx1	A	T	14: 27,001,383	N57Y	probably damaging	Het
Kif24	T	C	4: 41,392,904	T1168A	possibly damaging	Het
Kng2	A	T	16: 23,024,876	F118I	possibly damaging	Het
Lig3	C	T	11: 82,787,666	P245S	probably benign	Het
Loxhd1	G	T	18: 77,295,769	W121C	probably damaging	Het
Ltn1	A	G	16: 87,381,637	V1568A	probably damaging	Het
Map3k4	A	T	17: 12,254,995		probably null	Het
Mcm10	C	T	2: 4,993,760	V790M	probably damaging	Het
Mia3	A	T	1: 183,344,286	F1223I	possibly damaging	Het
Mlec	C	A	5: 115,150,346	K150N	probably damaging	Het
Morn4	T	C	19: 42,076,538	K70R	possibly damaging	Het
Mphosph10	A	C	7: 64,387,447		probably null	Het
Myocd	G	A	11: 65,204,321	Q47*	probably null	Het
Nav2	T	A	7: 49,548,471	S1283T	probably benign	Het
Nbeal2	T	C	9: 110,632,198	H1599R	probably damaging	Het
Nek10	G	T	14: 14,827,003	G67V	probably benign	Het
Nlgn2	A	C	11: 69,828,050	V271G	probably damaging	Het
Olfr167	A	C	16: 19,515,042	V198G	probably damaging	Het
Olfr97	A	G	17: 37,231,632	V246A	probably damaging	Het
Pcolce2	A	T	9: 95,694,740	M355L	probably benign	Het
Per2	T	C	1: 91,440,859	E264G	probably damaging	Het
Phf2	A	G	13: 48,828,908	L113P	unknown	Het
Piwil2	A	G	14: 70,426,658	V14A	possibly damaging	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plxnb2	C	T	15: 89,158,768	V1473I	probably benign	Het
Pms2	T	C	5: 143,913,700	L111P	probably damaging	Het
Polg	A	G	7: 79,459,231	L533P	probably damaging	Het
Ppp1r12b	A	G	1: 134,846,355		probably benign	Het
Ppp2r1b	T	A	9: 50,867,371	M208K	possibly damaging	Het
Prdm5	A	G	6: 65,936,088	Y207C	probably damaging	Het
Prkar2b	A	G	12: 31,963,935	V314A	probably damaging	Het
Proser1	T	A	3: 53,478,871	S725T	probably benign	Het
Psg20	A	G	7: 18,682,610	F194L	probably benign	Het
Ptprz1	A	G	6: 23,050,497	I2255V	probably damaging	Het
Sardh	T	G	2: 27,244,397	T36P	probably damaging	Het
Sec23a	T	A	12: 59,002,007	I110L	probably benign	Het
Slc22a29	T	A	19: 8,217,798	I158L	probably benign	Het
Slc35c1	T	C	2: 92,454,639	D210G	probably benign	Het
Syde2	A	G	3: 145,998,991	N566S	probably benign	Het
Tcf20	G	A	15: 82,857,230	Q7*	probably null	Het
Terb2	T	A	2: 122,204,857	H186Q	possibly damaging	Het
Tet2	G	A	3: 133,486,589	Q695*	probably null	Het
Tnfaip1	T	C	11: 78,530,147	Y29C	probably damaging	Het
Traf3	A	G	12: 111,260,661	K328E	probably benign	Het
Uaca	A	G	9: 60,870,341	E668G	probably damaging	Het
Ube2o	T	A	11: 116,545,337	E326V	probably damaging	Het
Ubr1	C	T	2: 120,946,273		probably null	Het
Vmn1r19	T	A	6: 57,405,048	S195R	probably damaging	Het
Vmn1r213	T	G	13: 23,012,303	V352G	probably benign	Het
Vmn2r19	T	A	6: 123,315,921	D307E	probably damaging	Het
Wdfy3	T	C	5: 101,968,946	D76G	probably damaging	Het
Zan	A	T	5: 137,403,114	C4114*	probably null	Het
Zdhhc23	A	T	16: 43,978,942	C37S	probably damaging	Het
Zfp628	G	T	7: 4,918,832	G18W	probably damaging	Het
Zfp712	T	A	13: 67,042,050	K138*	probably null	Het
Zfp867	A	T	11: 59,463,591	V304D	probably damaging	Het
Zfp870	T	C	17: 32,884,053	T102A	possibly damaging	Het
Zmym5	G	A	14: 56,797,753	S286L	possibly damaging	Het

Other mutations in Kcnh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Kcnh1	APN	1	192418882	missense	probably damaging	0.99
IGL01675:Kcnh1	APN	1	192337593	missense	probably benign	0.09
IGL01726:Kcnh1	APN	1	192505856	missense	possibly damaging	0.47
IGL02006:Kcnh1	APN	1	192191015	missense	possibly damaging	0.75
IGL02428:Kcnh1	APN	1	192337543	nonsense	probably null
IGL02447:Kcnh1	APN	1	192224916	missense	possibly damaging	0.61
IGL02512:Kcnh1	APN	1	192505381	missense	possibly damaging	0.64
IGL02748:Kcnh1	APN	1	192221420	missense	probably damaging	1.00
IGL02879:Kcnh1	APN	1	192276915	missense	probably damaging	1.00
IGL02926:Kcnh1	APN	1	192276900	missense	probably damaging	1.00
IGL03058:Kcnh1	APN	1	192434891	missense	probably damaging	1.00
IGL03078:Kcnh1	APN	1	192434800	missense	probably damaging	1.00
IGL03148:Kcnh1	APN	1	192276999	missense	probably damaging	0.99
3-1:Kcnh1	UTSW	1	192337687	nonsense	probably null
PIT4449001:Kcnh1	UTSW	1	192418684	missense	probably damaging	1.00
R0226:Kcnh1	UTSW	1	192276804	nonsense	probably null
R0226:Kcnh1	UTSW	1	192276805	missense	probably damaging	1.00
R0240:Kcnh1	UTSW	1	192505340	missense	probably benign
R0240:Kcnh1	UTSW	1	192505340	missense	probably benign
R0422:Kcnh1	UTSW	1	192337580	missense	probably benign
R0510:Kcnh1	UTSW	1	192418941	splice site	probably benign
R0612:Kcnh1	UTSW	1	192277053	missense	probably damaging	1.00
R0667:Kcnh1	UTSW	1	192506038	missense	probably benign	0.00
R0838:Kcnh1	UTSW	1	192413206	missense	probably damaging	0.99
R1303:Kcnh1	UTSW	1	192276702	missense	probably damaging	1.00
R1389:Kcnh1	UTSW	1	192505763	missense	probably benign	0.00
R1826:Kcnh1	UTSW	1	192413068	missense	possibly damaging	0.64
R2254:Kcnh1	UTSW	1	192505414	splice site	probably null
R2274:Kcnh1	UTSW	1	192337521	missense	probably damaging	1.00
R2275:Kcnh1	UTSW	1	192337521	missense	probably damaging	1.00
R3029:Kcnh1	UTSW	1	192506060	missense	probably benign	0.00
R3427:Kcnh1	UTSW	1	192241930	missense	probably benign	0.06
R3552:Kcnh1	UTSW	1	192238766	missense	probably damaging	1.00
R3718:Kcnh1	UTSW	1	192238799	missense	probably damaging	1.00
R3760:Kcnh1	UTSW	1	192506024	missense	probably damaging	1.00
R4009:Kcnh1	UTSW	1	192277140	missense	probably benign
R4027:Kcnh1	UTSW	1	192276699	missense	probably benign	0.05
R4453:Kcnh1	UTSW	1	192505517	missense	probably damaging	0.97
R4717:Kcnh1	UTSW	1	192276717	missense	probably damaging	0.99
R5014:Kcnh1	UTSW	1	192277080	missense	probably damaging	0.99
R5040:Kcnh1	UTSW	1	192505475	missense	probably benign	0.00
R5110:Kcnh1	UTSW	1	192337747	missense	possibly damaging	0.95
R5190:Kcnh1	UTSW	1	192505528	missense	probably benign	0.00
R5244:Kcnh1	UTSW	1	192224876	missense	probably benign	0.23
R5383:Kcnh1	UTSW	1	192505691	missense	probably benign	0.03
R5926:Kcnh1	UTSW	1	192413077	missense	probably benign	0.01
R6182:Kcnh1	UTSW	1	192191053	missense	probably damaging	0.97
R6516:Kcnh1	UTSW	1	192418781	missense	possibly damaging	0.50
R6567:Kcnh1	UTSW	1	192277104	missense	probably benign
R6655:Kcnh1	UTSW	1	192413083	missense	possibly damaging	0.89
R6715:Kcnh1	UTSW	1	192337641	missense	probably benign	0.00
R6823:Kcnh1	UTSW	1	192505289	makesense	probably null
R6972:Kcnh1	UTSW	1	192276836	missense	probably damaging	1.00
R7199:Kcnh1	UTSW	1	192337605	missense	probably benign	0.01
R7219:Kcnh1	UTSW	1	192505637	missense	probably benign
R7749:Kcnh1	UTSW	1	192277139	missense	probably benign
R7799:Kcnh1	UTSW	1	192434875	missense	probably damaging	0.96
R7862:Kcnh1	UTSW	1	192190859	start gained	probably benign
R8068:Kcnh1	UTSW	1	192241942	missense	probably benign	0.00
R8375:Kcnh1	UTSW	1	192434816	missense	probably damaging	1.00
R8694:Kcnh1	UTSW	1	192238723	critical splice acceptor site	probably benign
R8734:Kcnh1	UTSW	1	192506012	missense	possibly damaging	0.79
R8809:Kcnh1	UTSW	1	192221414	missense	probably damaging	1.00
R9007:Kcnh1	UTSW	1	192505747	missense	probably benign	0.01
R9218:Kcnh1	UTSW	1	192453630	missense	unknown
R9431:Kcnh1	UTSW	1	192418815	missense	probably benign	0.23
R9465:Kcnh1	UTSW	1	192241925	missense	probably damaging	0.96
Z1176:Kcnh1	UTSW	1	192418737	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTCAGACATCCTTCCCCAG -3'
(R):5'- CCTGGATCACCCATAAAGGC -3'

Sequencing Primer
(F):5'- TTCCCCAGTACAAGCAAGAGG -3'
(R):5'- GGCACTAACCTCATCCACGTTC -3'

Posted On

2014-08-25