Mutagenetix > Incidental Mutation

Incidental Mutation 'R3029:Kcnh1'

265897

Institutional Source

Beutler Lab

Gene Symbol

Kcnh1

Ensembl Gene

ENSMUSG00000058248

Gene Name

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

Synonyms

ether a go-go, Eag1, Kv10.1

MMRRC Submission

040545-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R3029 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

191873082-192192467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 192188368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 970 (T970M)

Ref Sequence

ENSEMBL: ENSMUSP00000077563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078470] [ENSMUST00000110844] [ENSMUST00000128619] [ENSMUST00000151152]

AlphaFold

no structure available at present

PDB Structure

Cyclic nucleotide binding-homology domain from mouse EAG1 potassium channel [X-RAY DIFFRACTION]
Crystal structure of PAS domain from the mouse EAG1 potassium channel [X-RAY DIFFRACTION]
Structure of the eag domain-CNBHD complex of the mouse EAG1 channel [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000078470
AA Change: T970M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000077563
Gene: ENSMUSG00000058248
AA Change: T970M

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 benign
Transcript: ENSMUST00000110844
AA Change: T943M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106468
Gene: ENSMUSG00000058248
AA Change: T943M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128619

SMART Domains

Protein: ENSMUSP00000120479
Gene: ENSMUSG00000037375

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	31	43	N/A	INTRINSIC
transmembrane domain	71	88	N/A	INTRINSIC
transmembrane domain	95	117	N/A	INTRINSIC
Pfam:MBOAT	125	448	3.1e-60	PFAM
transmembrane domain	475	497	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151152

SMART Domains

Protein: ENSMUSP00000141247
Gene: ENSMUSG00000058248

Domain	Start	End	E-Value	Type
SCOP:d1rgs_2	1	51	3e-6	SMART
Blast:cNMP	1	55	4e-34	BLAST
PDB:4F8A\|A	1	60	1e-38	PDB

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.0%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	A	G	1: 85,645,966 (GRCm39)	I213T	probably benign	Het
Atp8a2	CGT	CGTGT	14: 59,928,914 (GRCm39)		probably null	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdk6	G	A	5: 3,440,817 (GRCm39)		probably null	Het
Cryab	T	A	9: 50,667,638 (GRCm39)	I124N	probably damaging	Het
E2f5	A	G	3: 14,668,725 (GRCm39)	I206V	probably benign	Het
Eya4	T	C	10: 22,999,776 (GRCm39)	T396A	probably benign	Het
Fat2	T	C	11: 55,175,535 (GRCm39)	Y1726C	probably damaging	Het
Gad1	G	A	2: 70,425,034 (GRCm39)	V443I	probably benign	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Ighv7-2	A	G	12: 113,876,100 (GRCm39)	F2L	probably benign	Het
Itgad	T	A	7: 127,777,543 (GRCm39)	I141N	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nlrp1a	T	A	11: 71,014,456 (GRCm39)	T265S	probably damaging	Het
Nsun4	A	G	4: 115,909,922 (GRCm39)	S213P	possibly damaging	Het
Pkdrej	C	T	15: 85,701,205 (GRCm39)	R1577Q	probably benign	Het
Proz	A	T	8: 13,111,042 (GRCm39)	I5F	probably benign	Het
Rbm48	A	T	5: 3,646,043 (GRCm39)	F54I	possibly damaging	Het
Rgs20	T	C	1: 5,140,276 (GRCm39)	D42G	probably benign	Het
Rxfp2	A	C	5: 149,966,595 (GRCm39)	D111A	probably benign	Het
Sparcl1	T	C	5: 104,241,092 (GRCm39)	T111A	possibly damaging	Het
Vmn2r14	T	A	5: 109,363,776 (GRCm39)	L713F	probably damaging	Het

Other mutations in Kcnh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Kcnh1	APN	1	192,101,190 (GRCm39)	missense	probably damaging	0.99
IGL01675:Kcnh1	APN	1	192,019,901 (GRCm39)	missense	probably benign	0.09
IGL01726:Kcnh1	APN	1	192,188,164 (GRCm39)	missense	possibly damaging	0.47
IGL02006:Kcnh1	APN	1	191,873,323 (GRCm39)	missense	possibly damaging	0.75
IGL02428:Kcnh1	APN	1	192,019,851 (GRCm39)	nonsense	probably null
IGL02447:Kcnh1	APN	1	191,907,224 (GRCm39)	missense	possibly damaging	0.61
IGL02512:Kcnh1	APN	1	192,187,689 (GRCm39)	missense	possibly damaging	0.64
IGL02748:Kcnh1	APN	1	191,903,728 (GRCm39)	missense	probably damaging	1.00
IGL02879:Kcnh1	APN	1	191,959,223 (GRCm39)	missense	probably damaging	1.00
IGL02926:Kcnh1	APN	1	191,959,208 (GRCm39)	missense	probably damaging	1.00
IGL03058:Kcnh1	APN	1	192,117,199 (GRCm39)	missense	probably damaging	1.00
IGL03078:Kcnh1	APN	1	192,117,108 (GRCm39)	missense	probably damaging	1.00
IGL03148:Kcnh1	APN	1	191,959,307 (GRCm39)	missense	probably damaging	0.99
3-1:Kcnh1	UTSW	1	192,019,995 (GRCm39)	nonsense	probably null
PIT4449001:Kcnh1	UTSW	1	192,100,992 (GRCm39)	missense	probably damaging	1.00
R0226:Kcnh1	UTSW	1	191,959,113 (GRCm39)	missense	probably damaging	1.00
R0226:Kcnh1	UTSW	1	191,959,112 (GRCm39)	nonsense	probably null
R0240:Kcnh1	UTSW	1	192,187,648 (GRCm39)	missense	probably benign
R0240:Kcnh1	UTSW	1	192,187,648 (GRCm39)	missense	probably benign
R0422:Kcnh1	UTSW	1	192,019,888 (GRCm39)	missense	probably benign
R0510:Kcnh1	UTSW	1	192,101,249 (GRCm39)	splice site	probably benign
R0612:Kcnh1	UTSW	1	191,959,361 (GRCm39)	missense	probably damaging	1.00
R0667:Kcnh1	UTSW	1	192,188,346 (GRCm39)	missense	probably benign	0.00
R0838:Kcnh1	UTSW	1	192,095,514 (GRCm39)	missense	probably damaging	0.99
R1303:Kcnh1	UTSW	1	191,959,010 (GRCm39)	missense	probably damaging	1.00
R1389:Kcnh1	UTSW	1	192,188,071 (GRCm39)	missense	probably benign	0.00
R1826:Kcnh1	UTSW	1	192,095,376 (GRCm39)	missense	possibly damaging	0.64
R1997:Kcnh1	UTSW	1	191,959,243 (GRCm39)	missense	probably damaging	0.99
R2254:Kcnh1	UTSW	1	192,187,722 (GRCm39)	splice site	probably null
R2274:Kcnh1	UTSW	1	192,019,829 (GRCm39)	missense	probably damaging	1.00
R2275:Kcnh1	UTSW	1	192,019,829 (GRCm39)	missense	probably damaging	1.00
R3427:Kcnh1	UTSW	1	191,924,238 (GRCm39)	missense	probably benign	0.06
R3552:Kcnh1	UTSW	1	191,921,074 (GRCm39)	missense	probably damaging	1.00
R3718:Kcnh1	UTSW	1	191,921,107 (GRCm39)	missense	probably damaging	1.00
R3760:Kcnh1	UTSW	1	192,188,332 (GRCm39)	missense	probably damaging	1.00
R4009:Kcnh1	UTSW	1	191,959,448 (GRCm39)	missense	probably benign
R4027:Kcnh1	UTSW	1	191,959,007 (GRCm39)	missense	probably benign	0.05
R4453:Kcnh1	UTSW	1	192,187,825 (GRCm39)	missense	probably damaging	0.97
R4717:Kcnh1	UTSW	1	191,959,025 (GRCm39)	missense	probably damaging	0.99
R5014:Kcnh1	UTSW	1	191,959,388 (GRCm39)	missense	probably damaging	0.99
R5040:Kcnh1	UTSW	1	192,187,783 (GRCm39)	missense	probably benign	0.00
R5110:Kcnh1	UTSW	1	192,020,055 (GRCm39)	missense	possibly damaging	0.95
R5190:Kcnh1	UTSW	1	192,187,836 (GRCm39)	missense	probably benign	0.00
R5244:Kcnh1	UTSW	1	191,907,184 (GRCm39)	missense	probably benign	0.23
R5383:Kcnh1	UTSW	1	192,187,999 (GRCm39)	missense	probably benign	0.03
R5926:Kcnh1	UTSW	1	192,095,385 (GRCm39)	missense	probably benign	0.01
R6182:Kcnh1	UTSW	1	191,873,361 (GRCm39)	missense	probably damaging	0.97
R6516:Kcnh1	UTSW	1	192,101,089 (GRCm39)	missense	possibly damaging	0.50
R6567:Kcnh1	UTSW	1	191,959,412 (GRCm39)	missense	probably benign
R6655:Kcnh1	UTSW	1	192,095,391 (GRCm39)	missense	possibly damaging	0.89
R6715:Kcnh1	UTSW	1	192,019,949 (GRCm39)	missense	probably benign	0.00
R6823:Kcnh1	UTSW	1	192,187,597 (GRCm39)	makesense	probably null
R6972:Kcnh1	UTSW	1	191,959,144 (GRCm39)	missense	probably damaging	1.00
R7199:Kcnh1	UTSW	1	192,019,913 (GRCm39)	missense	probably benign	0.01
R7219:Kcnh1	UTSW	1	192,187,945 (GRCm39)	missense	probably benign
R7749:Kcnh1	UTSW	1	191,959,447 (GRCm39)	missense	probably benign
R7799:Kcnh1	UTSW	1	192,117,183 (GRCm39)	missense	probably damaging	0.96
R7862:Kcnh1	UTSW	1	191,873,167 (GRCm39)	start gained	probably benign
R8068:Kcnh1	UTSW	1	191,924,250 (GRCm39)	missense	probably benign	0.00
R8375:Kcnh1	UTSW	1	192,117,124 (GRCm39)	missense	probably damaging	1.00
R8694:Kcnh1	UTSW	1	191,921,031 (GRCm39)	critical splice acceptor site	probably benign
R8734:Kcnh1	UTSW	1	192,188,320 (GRCm39)	missense	possibly damaging	0.79
R8809:Kcnh1	UTSW	1	191,903,722 (GRCm39)	missense	probably damaging	1.00
R9007:Kcnh1	UTSW	1	192,188,055 (GRCm39)	missense	probably benign	0.01
R9218:Kcnh1	UTSW	1	192,135,938 (GRCm39)	missense	unknown
R9431:Kcnh1	UTSW	1	192,101,123 (GRCm39)	missense	probably benign	0.23
R9465:Kcnh1	UTSW	1	191,924,233 (GRCm39)	missense	probably damaging	0.96
Z1176:Kcnh1	UTSW	1	192,101,045 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTGAGGTCAAGCATTC -3'
(R):5'- AGCCACTTGGTCTGATTTTGAC -3'

Sequencing Primer
(F):5'- GGCTGAGGTCAAGCATTCTTTCTAC -3'
(R):5'- TTCCTGTCAGAAAAAGCCCAGTATG -3'

Posted On

2015-02-05