Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Kcnh1'

33894

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

038471-MU

Accession Numbers

Genbank: NM_010600, NM_001038607; MGI: 1341721

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R0226 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

192190774-192510159 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 192276805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Cysteine at position 222 (W222C)

Ref Sequence

ENSEMBL: ENSMUSP00000106468 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000078470
AA Change: W222C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077563
Gene: ENSMUSG00000058248
AA Change: W222C

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: W222C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106468
Gene: ENSMUSG00000058248
AA Change: W222C

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

Meta Mutation Damage Score

0.8722

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,142,120	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,303,425	E876V	possibly damaging	Het
Aasdh	A	T	5: 76,902,002	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,957,018		probably null	Het
Ablim1	A	T	19: 57,043,870	L556Q	probably damaging	Het
Afdn	A	G	17: 13,899,146	T1700A	probably benign	Het
Agl	G	A	3: 116,752,071	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,278,029	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,670,270	C180*	probably null	Het
Aim2	A	G	1: 173,462,333		probably benign	Het
Angpt1	T	C	15: 42,468,235	N320S	probably benign	Het
Ankrd52	T	A	10: 128,389,858		probably null	Het
Ap1g1	C	T	8: 109,855,062	S654L	probably benign	Het
Bpifa1	T	A	2: 154,146,057	S173R	probably benign	Het
Brd8	T	C	18: 34,603,894		probably benign	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,490,843	T161A	probably benign	Het
Car6	T	C	4: 150,187,508	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,400,217	L273P	probably damaging	Het
Cit	G	A	5: 115,984,840	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,349,276	L48P	probably damaging	Het
Cttn	A	G	7: 144,441,852		probably benign	Het
Cyp4f18	T	C	8: 71,989,775		probably benign	Het
Dtnbp1	A	G	13: 44,923,193	L175P	probably damaging	Het
Efl1	T	C	7: 82,693,011		probably benign	Het
Fbn1	C	T	2: 125,320,910	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,801,061	S665T	probably benign	Het
Gm884	A	T	11: 103,603,241	F663L	probably benign	Het
Gm9843	A	T	16: 76,403,561		noncoding transcript	Het
Gpr155	C	T	2: 73,367,592	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076		probably benign	Het
Hdgfl1	A	T	13: 26,769,996	H31Q	probably benign	Het
Heatr1	T	C	13: 12,410,562	S628P	probably damaging	Het
Hivep2	A	G	10: 14,129,712	T685A	probably benign	Het
Hmgcl	T	G	4: 135,958,728	V168G	probably damaging	Het
Itch	T	C	2: 155,199,394	I454T	probably benign	Het
Itih2	T	C	2: 10,115,299	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,842,952	I304V	probably benign	Het
Kif24	T	A	4: 41,414,939	K287*	probably null	Het
Lrig3	A	G	10: 125,972,117		probably benign	Het
Lrp2	A	T	2: 69,537,563	C202S	probably null	Het
Lrrn2	A	G	1: 132,937,820	N208D	probably damaging	Het
Mcm5	C	T	8: 75,126,252	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,634,446	L365S	probably benign	Het
Mfsd6	A	G	1: 52,658,690		probably benign	Het
Mgat4e	A	G	1: 134,541,103	V401A	probably benign	Het
Mllt3	C	A	4: 87,840,732	V360L	probably benign	Het
Mrm1	G	A	11: 84,819,170	A68V	possibly damaging	Het
Myo19	A	G	11: 84,897,732		probably benign	Het
Myo3b	A	G	2: 70,217,166	T311A	probably benign	Het
Myo5b	T	C	18: 74,742,180	F1552L	probably benign	Het
Myo7b	C	T	18: 31,972,896	V1353I	probably benign	Het
Myo9b	T	C	8: 71,353,832	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,353,008	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,448,201	S703P	probably damaging	Het
Pclo	T	C	5: 14,765,223	I1231T	probably damaging	Het
Pex16	A	C	2: 92,375,687		probably benign	Het
Pfkl	T	C	10: 77,992,534	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,526,784	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,456,696	T106S	probably benign	Het
Prrc1	A	G	18: 57,363,291	M105V	probably benign	Het
Psg26	A	G	7: 18,483,958	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,731,437	S455C	probably damaging	Het
Ryr2	T	C	13: 11,772,556	K977R	probably damaging	Het
Sart1	C	T	19: 5,381,122		probably benign	Het
Sec14l5	A	G	16: 5,180,303	S509G	probably benign	Het
Sin3b	A	T	8: 72,744,508	E361V	probably benign	Het
Slc35e3	C	T	10: 117,740,890	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,001,583	S388P	probably damaging	Het
Srms	A	G	2: 181,212,382	S131P	probably benign	Het
Stxbp5	T	C	10: 9,866,698		probably benign	Het
Taar2	T	C	10: 23,941,063	V167A	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,900	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,714,169		probably benign	Het
Tmem173	A	T	18: 35,739,088	F120L	probably benign	Het
Tnfaip3	T	C	10: 19,002,747	K771R	probably damaging	Het
Treml1	C	T	17: 48,360,458	L124F	probably damaging	Het
Ttn	G	T	2: 76,780,797	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,230,711	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,703,083	V248L	possibly damaging	Het
Vps35	T	C	8: 85,273,575	Q474R	probably damaging	Het
Wdr17	T	A	8: 54,663,008	T580S	probably benign	Het
Xpnpep1	T	C	19: 53,010,152	K222E	probably benign	Het
Ylpm1	A	G	12: 85,049,737	T1446A	probably benign	Het
Zfp277	A	G	12: 40,364,162	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,813,275	K57M	probably damaging	Het
Zmpste24	A	T	4: 121,081,209	S244R	probably benign	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
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
R1997:Kcnh1	UTSW	1	192276935	missense	probably damaging	0.99
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'- GCTATCACTACAGCACGAGCACTTC -3'
(R):5'- CACGTCTTCAGGTAGTTCATGCGG -3'

Sequencing Primer
(F):5'- AGCACGAGCACTTCTGTTAC -3'
(R):5'- AAGTTTGGGGTCAGATATCACTTCC -3'

Posted On

2013-05-09