Mutagenetix > Incidental Mutation

Incidental Mutation 'R0510:Kcnh1'

47770

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

038704-MU

Accession Numbers

Essential gene?

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

Stock #

R0510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

191873082-192192467 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 192101249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106468 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000078470

SMART Domains

Protein: ENSMUSP00000077563
Gene: ENSMUSG00000058248

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

SMART Domains

Protein: ENSMUSP00000106468
Gene: ENSMUSG00000058248

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: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

99% (102/103)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,125,482 (GRCm39)	I67T	probably damaging	Het
Acoxl	G	A	2: 127,722,423 (GRCm39)		probably null	Het
Adam10	T	A	9: 70,655,530 (GRCm39)	W333R	probably damaging	Het
Ahnak	C	T	19: 8,995,596 (GRCm39)	R5627*	probably null	Het
Alms1	A	T	6: 85,597,351 (GRCm39)	R1195*	probably null	Het
Ap2m1	T	A	16: 20,360,990 (GRCm39)	I334N	possibly damaging	Het
Brd8dc	A	T	18: 34,729,204 (GRCm39)	D42E	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ccdc110	T	A	8: 46,388,194 (GRCm39)	N50K	probably benign	Het
Ccdc168	T	A	1: 44,100,257 (GRCm39)	K280N	possibly damaging	Het
Cdhr1	T	C	14: 36,802,633 (GRCm39)	Y610C	probably damaging	Het
Cdkal1	C	A	13: 29,875,579 (GRCm39)		probably null	Het
Celsr3	G	A	9: 108,704,204 (GRCm39)	C229Y	possibly damaging	Het
Clca4b	A	T	3: 144,619,112 (GRCm39)	Y676N	probably damaging	Het
Col11a1	A	T	3: 113,899,105 (GRCm39)		probably benign	Het
Cpe	T	A	8: 65,064,501 (GRCm39)	I233F	probably damaging	Het
Cpsf1	A	T	15: 76,487,857 (GRCm39)		probably benign	Het
Cpsf2	T	C	12: 101,955,045 (GRCm39)	V272A	probably damaging	Het
Creld2	A	T	15: 88,704,159 (GRCm39)	N50I	probably damaging	Het
Cyb5r1	T	C	1: 134,337,430 (GRCm39)		probably benign	Het
Dcaf11	T	C	14: 55,806,537 (GRCm39)	V446A	probably damaging	Het
Defa34	A	G	8: 22,155,988 (GRCm39)		probably null	Het
Dgat1	T	C	15: 76,395,767 (GRCm39)	Y72C	possibly damaging	Het
Efr3b	G	T	12: 4,032,058 (GRCm39)	D183E	probably benign	Het
Enpp3	A	T	10: 24,652,679 (GRCm39)	D759E	probably damaging	Het
Epyc	A	G	10: 97,485,625 (GRCm39)	T22A	probably benign	Het
Etfbkmt	C	T	6: 149,052,082 (GRCm39)	R96W	probably benign	Het
Fam83b	G	T	9: 76,400,108 (GRCm39)	L332I	possibly damaging	Het
Fat3	C	A	9: 15,910,981 (GRCm39)	E1674*	probably null	Het
Fbn1	A	G	2: 125,184,845 (GRCm39)		probably benign	Het
Gm5134	C	A	10: 75,810,079 (GRCm39)	T120N	probably benign	Het
Gmip	C	T	8: 70,268,259 (GRCm39)		probably benign	Het
Gpbp1	G	T	13: 111,577,279 (GRCm39)	Q204K	possibly damaging	Het
Gpr108	T	C	17: 57,542,358 (GRCm39)	D549G	possibly damaging	Het
Gsdme	C	A	6: 50,223,107 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
H2-Eb2	C	T	17: 34,553,218 (GRCm39)	Q135*	probably null	Het
Hectd4	T	A	5: 121,419,959 (GRCm39)	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,443,736 (GRCm39)	E1319K	possibly damaging	Het
Hs3st2	T	C	7: 121,099,792 (GRCm39)	S213P	probably damaging	Het
Ikbkb	A	T	8: 23,161,651 (GRCm39)	C412*	probably null	Het
Itpr2	T	C	6: 146,319,477 (GRCm39)	T188A	possibly damaging	Het
Kctd21	T	C	7: 96,996,748 (GRCm39)	F74L	probably damaging	Het
Krt23	T	A	11: 99,377,608 (GRCm39)	I133L	probably damaging	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lmtk3	T	A	7: 45,443,536 (GRCm39)	L740M	possibly damaging	Het
Lrrc10	T	A	10: 116,881,695 (GRCm39)	L123Q	probably damaging	Het
Map1a	A	T	2: 121,136,255 (GRCm39)	H2357L	probably benign	Het
Mbl1	A	G	14: 40,880,706 (GRCm39)	N198S	probably damaging	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Mtss1	A	T	15: 58,828,387 (GRCm39)	D175E	probably benign	Het
Myef2	A	T	2: 124,950,954 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,180,755 (GRCm39)		probably benign	Het
Or14a259	T	C	7: 86,013,035 (GRCm39)	N170S	probably benign	Het
Or4a39	A	T	2: 89,237,135 (GRCm39)	M96K	probably damaging	Het
Or5w15	A	G	2: 87,567,825 (GRCm39)	V281A	probably damaging	Het
Parp2	T	A	14: 51,057,130 (GRCm39)	Y361N	probably damaging	Het
Parp3	A	G	9: 106,348,995 (GRCm39)	F466L	possibly damaging	Het
Pcdh15	A	T	10: 74,126,808 (GRCm39)	N296Y	probably damaging	Het
Pdzrn3	A	T	6: 101,128,014 (GRCm39)	I884N	probably damaging	Het
Pim1	T	C	17: 29,712,883 (GRCm39)		probably benign	Het
Pou6f2	A	G	13: 18,314,308 (GRCm39)		probably benign	Het
Prelid3b	A	G	2: 174,307,743 (GRCm39)		probably benign	Het
Proc	G	A	18: 32,258,171 (GRCm39)	T258I	probably benign	Het
Rab3gap2	T	C	1: 184,992,705 (GRCm39)		probably benign	Het
Rb1cc1	A	C	1: 6,319,395 (GRCm39)	K938T	probably benign	Het
Rem2	T	C	14: 54,713,754 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rin2	A	G	2: 145,702,953 (GRCm39)	K550E	probably benign	Het
Rps6ka4	G	T	19: 6,817,866 (GRCm39)	T17N	probably benign	Het
Rtn4	T	A	11: 29,683,849 (GRCm39)		probably benign	Het
Ruvbl2	C	T	7: 45,080,730 (GRCm39)		probably benign	Het
Scaper	A	G	9: 55,665,346 (GRCm39)		probably benign	Het
Sdc2	T	C	15: 33,017,235 (GRCm39)		probably benign	Het
Semp2l1	T	A	1: 32,584,956 (GRCm39)	N318I	possibly damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slco2b1	T	A	7: 99,310,743 (GRCm39)	M603L	probably benign	Het
Smpdl3b	A	G	4: 132,472,449 (GRCm39)	V108A	probably damaging	Het
Sptbn4	C	T	7: 27,060,991 (GRCm39)		probably null	Het
Srrm1	G	A	4: 135,065,854 (GRCm39)		probably benign	Het
Ssh1	A	T	5: 114,084,766 (GRCm39)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,547 (GRCm39)		probably null	Het
Sv2b	T	G	7: 74,786,140 (GRCm39)	M427L	probably benign	Het
Syne1	A	G	10: 5,317,600 (GRCm39)	L498P	probably damaging	Het
Syne2	T	C	12: 75,900,923 (GRCm39)		probably null	Het
Taf6l	G	T	19: 8,755,885 (GRCm39)	H254Q	probably benign	Het
Traf3ip3	T	A	1: 192,860,539 (GRCm39)		probably null	Het
Trpm1	G	A	7: 63,873,506 (GRCm39)	G587D	probably damaging	Het
Ttn	A	G	2: 76,560,756 (GRCm39)	V29215A	probably damaging	Het
Ubr4	T	G	4: 139,157,534 (GRCm39)	S2364A	probably benign	Het
Ush2a	T	A	1: 188,466,860 (GRCm39)		probably benign	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r57	A	T	7: 41,077,216 (GRCm39)	S317T	possibly damaging	Het
Vwa2	A	G	19: 56,886,500 (GRCm39)		probably benign	Het
Wdr73	G	A	7: 80,547,698 (GRCm39)	Q107*	probably null	Het
Zbtb10	T	A	3: 9,329,728 (GRCm39)	V362E	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp296	A	T	7: 19,311,831 (GRCm39)	M113L	probably benign	Het
Zfp729b	A	T	13: 67,739,253 (GRCm39)	V1004E	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
R0240:Kcnh1	UTSW	1	192,187,648 (GRCm39)	missense	probably benign
R0422:Kcnh1	UTSW	1	192,019,888 (GRCm39)	missense	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'- CACCTGAACCGCAAAGTGTTCAAAG -3'
(R):5'- ACCTGTCCCTGTGAATCACACCTG -3'

Sequencing Primer
(F):5'- GTTCAAAGAACACCCTGCCTTTC -3'
(R):5'- GGAAGCGTTCCCATTTGAATC -3'

Posted On

2013-06-12