Mutagenetix > Incidental Mutation

Incidental Mutation 'R0240:Kcnh1'

59276

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

038478-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R0240 (G1)

Quality Score

139

Status

Validated

Chromosome

Chromosomal Location

191873082-192192467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 192187648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 703 (I703N)

Ref Sequence

ENSEMBL: ENSMUSP00000106468 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000078470
AA Change: I730N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077563
Gene: ENSMUSG00000058248
AA Change: I730N

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: I703N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106468
Gene: ENSMUSG00000058248
AA Change: I703N

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

Meta Mutation Damage Score

0.0580

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

100% (112/112)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,506,920 (GRCm39)	L71P	probably damaging	Het
Adamts2	A	T	11: 50,666,201 (GRCm39)	D399V	probably damaging	Het
Adck2	T	A	6: 39,560,752 (GRCm39)	V380E	probably benign	Het
Alg11	T	A	8: 22,555,468 (GRCm39)	V243D	possibly damaging	Het
Ankrd27	T	A	7: 35,318,864 (GRCm39)	L585Q	probably damaging	Het
Armh4	A	G	14: 50,005,859 (GRCm39)		probably benign	Het
Atp7a	T	A	X: 105,153,447 (GRCm39)	N1117K	probably damaging	Het
Bltp3a	T	A	17: 28,114,844 (GRCm39)		probably benign	Het
Cacna1b	G	A	2: 24,528,669 (GRCm39)		probably benign	Het
Cacna1d	T	A	14: 29,818,926 (GRCm39)	M1210L	probably benign	Het
Cacna1s	T	C	1: 136,001,234 (GRCm39)		probably benign	Het
Chd7	T	C	4: 8,852,670 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,559,315 (GRCm39)	S1858T	probably benign	Het
Cotl1	C	T	8: 120,567,063 (GRCm39)	W26*	probably null	Het
Csmd3	T	C	15: 47,492,635 (GRCm39)	T3000A	probably benign	Het
Dcp1a	T	A	14: 30,206,551 (GRCm39)		probably benign	Het
Ddhd2	A	T	8: 26,229,617 (GRCm39)		probably null	Het
Dnah8	T	C	17: 30,984,653 (GRCm39)	I3117T	probably damaging	Het
Dnm3	G	T	1: 162,181,194 (GRCm39)	Q162K	probably benign	Het
Dpy19l2	G	T	9: 24,569,876 (GRCm39)	A359D	probably damaging	Het
Ece1	T	A	4: 137,676,746 (GRCm39)		probably benign	Het
Eif4g3	A	G	4: 137,897,873 (GRCm39)	K1025R	probably damaging	Het
Eml2	C	A	7: 18,918,797 (GRCm39)	Y82*	probably null	Het
Eml6	A	G	11: 29,742,367 (GRCm39)	V1057A	possibly damaging	Het
Eral1	A	G	11: 77,966,884 (GRCm39)		probably benign	Het
Espl1	T	C	15: 102,220,976 (GRCm39)	S911P	probably benign	Het
Fbxo8	A	G	8: 57,043,296 (GRCm39)		probably benign	Het
Flrt1	A	T	19: 7,074,475 (GRCm39)		probably benign	Het
Fndc7	A	G	3: 108,766,235 (GRCm39)		probably benign	Het
G3bp1	G	A	11: 55,382,854 (GRCm39)	G139D	probably damaging	Het
Gabra6	C	T	11: 42,205,774 (GRCm39)	V351I	probably benign	Het
Galc	A	T	12: 98,218,293 (GRCm39)	H186Q	probably damaging	Het
Ganab	A	G	19: 8,890,177 (GRCm39)	D702G	possibly damaging	Het
Hdac10	T	C	15: 89,010,085 (GRCm39)	E291G	possibly damaging	Het
Hectd3	T	G	4: 116,859,810 (GRCm39)	V749G	probably damaging	Het
Kash5	C	T	7: 44,849,675 (GRCm39)	A83T	probably benign	Het
Kcnma1	G	A	14: 23,544,647 (GRCm39)	T505I	probably damaging	Het
Kctd11	A	G	11: 69,770,640 (GRCm39)	C133R	probably damaging	Het
Lama3	A	T	18: 12,672,880 (GRCm39)		probably null	Het
Lamb3	T	C	1: 193,017,335 (GRCm39)	L842P	probably damaging	Het
Ldlr	T	C	9: 21,649,295 (GRCm39)		probably benign	Het
Lipk	G	A	19: 34,024,210 (GRCm39)	R336H	probably benign	Het
Lrrc24	T	A	15: 76,607,409 (GRCm39)	D58V	probably damaging	Het
Lrsam1	A	G	2: 32,845,197 (GRCm39)	L106P	probably damaging	Het
Milr1	G	A	11: 106,645,722 (GRCm39)	W88*	probably null	Het
Mmp10	A	G	9: 7,506,544 (GRCm39)	D340G	probably damaging	Het
Mybpc1	T	A	10: 88,391,600 (GRCm39)	Y285F	possibly damaging	Het
Ncoa3	A	G	2: 165,896,320 (GRCm39)	T408A	probably benign	Het
Nefm	T	A	14: 68,358,583 (GRCm39)	K484*	probably null	Het
Nfasc	A	G	1: 132,529,721 (GRCm39)	S814P	probably damaging	Het
Nlrp4a	T	C	7: 26,161,941 (GRCm39)	V863A	probably benign	Het
Nos1	C	T	5: 118,005,948 (GRCm39)	P223S	probably benign	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Or13c7	T	A	4: 43,854,512 (GRCm39)	S68T	probably damaging	Het
Or4c108	A	T	2: 88,803,740 (GRCm39)	L165Q	probably damaging	Het
Or5an6	A	T	19: 12,372,327 (GRCm39)	E233D	probably benign	Het
Or8k41	A	G	2: 86,313,730 (GRCm39)	S119P	possibly damaging	Het
Osbpl5	T	C	7: 143,295,406 (GRCm39)		probably null	Het
Otog	C	A	7: 45,913,456 (GRCm39)		probably null	Het
Pacs1	A	T	19: 5,206,402 (GRCm39)	I261N	possibly damaging	Het
Pbx1	G	A	1: 168,031,051 (GRCm39)	T189I	possibly damaging	Het
Pcnx1	T	C	12: 81,993,792 (GRCm39)	I908T	possibly damaging	Het
Pdxdc1	A	T	16: 13,697,309 (GRCm39)	W124R	probably damaging	Het
Phex	C	A	X: 155,969,214 (GRCm39)	D587Y	probably damaging	Het
Plcb3	A	T	19: 6,940,363 (GRCm39)	D435E	probably benign	Het
Plce1	A	C	19: 38,717,330 (GRCm39)	K1373T	probably damaging	Het
Prkcd	G	A	14: 30,324,045 (GRCm39)	A311V	probably damaging	Het
Ptpn3	A	T	4: 57,232,374 (GRCm39)	S421T	probably benign	Het
Ptprs	T	C	17: 56,743,087 (GRCm39)		probably null	Het
Qrich1	A	G	9: 108,411,333 (GRCm39)	D286G	probably damaging	Het
Rcc1	C	A	4: 132,060,226 (GRCm39)	G393V	probably damaging	Het
Reln	T	C	5: 22,311,043 (GRCm39)	N290S	probably benign	Het
Rgl1	T	C	1: 152,430,175 (GRCm39)		probably benign	Het
Rhpn1	C	T	15: 75,585,971 (GRCm39)	T628I	probably benign	Het
Rilp	A	G	11: 75,401,747 (GRCm39)	R176G	probably benign	Het
Riok3	C	T	18: 12,288,284 (GRCm39)	A487V	probably benign	Het
Rnf224	T	C	2: 25,126,219 (GRCm39)	T45A	probably damaging	Het
Rpa1	A	G	11: 75,219,513 (GRCm39)	V137A	probably benign	Het
Rps6ka1	C	A	4: 133,575,842 (GRCm39)	Q693H	probably benign	Het
Scn2a	G	T	2: 65,566,118 (GRCm39)	V1381F	probably benign	Het
Scp2	T	A	4: 107,955,275 (GRCm39)	H112L	probably benign	Het
Sdk1	T	C	5: 141,984,502 (GRCm39)	W696R	probably damaging	Het
Slc26a7	C	A	4: 14,532,651 (GRCm39)	V408F	probably damaging	Het
Slc28a2	T	A	2: 122,285,008 (GRCm39)	I332N	probably benign	Het
Slc37a3	A	G	6: 39,314,172 (GRCm39)	V480A	probably benign	Het
Slc45a4	T	A	15: 73,453,755 (GRCm39)	E674D	probably benign	Het
Smpd3	T	C	8: 106,991,788 (GRCm39)	E255G	probably damaging	Het
Snx29	C	T	16: 11,478,417 (GRCm39)	R658W	probably damaging	Het
Sppl2a	A	T	2: 126,762,256 (GRCm39)	M275K	probably benign	Het
Stac	T	C	9: 111,464,089 (GRCm39)	N59S	probably damaging	Het
Stk25	A	T	1: 93,554,782 (GRCm39)	L131Q	probably damaging	Het
Tep1	C	T	14: 51,100,486 (GRCm39)		probably benign	Het
Thbs1	C	A	2: 117,944,874 (GRCm39)	N229K	probably damaging	Het
Tmx2	A	T	2: 84,506,186 (GRCm39)	H89Q	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tradd	T	C	8: 105,985,924 (GRCm39)	N209S	possibly damaging	Het
Trappc3l	A	T	10: 33,974,928 (GRCm39)	R119*	probably null	Het
Trmt1l	G	A	1: 151,333,205 (GRCm39)		probably benign	Het
Ublcp1	G	T	11: 44,349,104 (GRCm39)	Y243*	probably null	Het
Usp24	C	A	4: 106,271,601 (GRCm39)	C2158*	probably null	Het
Usp34	A	T	11: 23,383,206 (GRCm39)	K2088N	probably damaging	Het
Vmn1r53	G	C	6: 90,200,925 (GRCm39)	S133C	probably damaging	Het
Vmn2r52	A	G	7: 9,893,327 (GRCm39)	V604A	probably damaging	Het
Vmn2r93	A	G	17: 18,525,061 (GRCm39)	K240E	probably benign	Het
Wdr13	T	G	X: 7,994,284 (GRCm39)	D242A	probably damaging	Het
Wwp1	C	T	4: 19,641,734 (GRCm39)		probably null	Het
Zan	G	A	5: 137,396,624 (GRCm39)	H4311Y	unknown	Het
Zc3h12c	C	A	9: 52,055,383 (GRCm39)	R123L	possibly damaging	Het
Zfp125	A	T	12: 20,950,562 (GRCm39)		noncoding transcript	Het
Zfp318	C	T	17: 46,707,739 (GRCm39)	P266S	probably benign	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
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
R3029:Kcnh1	UTSW	1	192,188,368 (GRCm39)	missense	probably benign	0.00
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'- TGGATGGTGCTTGACATTGACAGAC -3'
(R):5'- ATGGACTCTGCCTTGGACACCTTG -3'

Sequencing Primer
(F):5'- GCTTGACATTGACAGACTTGACC -3'
(R):5'- TTCCACAGGCATCTTTGAAACG -3'

Posted On

2013-07-11