Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02879:Kcnh1'

362754

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

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

Stock #

IGL02879

Quality Score

Status

Chromosome

Chromosomal Location

191873082-192192467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 191959223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 259 (V259A)

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: V259A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077563
Gene: ENSMUSG00000058248
AA Change: V259A

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: V259A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106468
Gene: ENSMUSG00000058248
AA Change: V259A

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	G	5: 81,659,966 (GRCm39)	Y245C	probably damaging	Het
Asb3	G	A	11: 31,051,067 (GRCm39)	R507H	probably damaging	Het
Cacna1g	A	C	11: 94,300,431 (GRCm39)	I2118S	probably benign	Het
Col3a1	A	T	1: 45,380,119 (GRCm39)		probably benign	Het
Ecscr	T	C	18: 35,846,731 (GRCm39)	N221S	possibly damaging	Het
Enpp4	T	C	17: 44,412,841 (GRCm39)	D231G	probably benign	Het
Fastkd5	A	G	2: 130,456,341 (GRCm39)	Y750H	probably damaging	Het
Gm42688	A	G	6: 83,084,125 (GRCm39)	Y510C	probably damaging	Het
Gtse1	T	C	15: 85,753,264 (GRCm39)		probably benign	Het
Il4ra	A	G	7: 125,176,069 (GRCm39)	E759G	possibly damaging	Het
Itgb4	A	G	11: 115,885,178 (GRCm39)	D1019G	probably benign	Het
Ksr1	G	A	11: 78,965,270 (GRCm39)	L15F	probably damaging	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Myh15	A	T	16: 48,993,422 (GRCm39)	T1686S	possibly damaging	Het
Neb	A	C	2: 52,146,697 (GRCm39)	L2856V	possibly damaging	Het
Nkapd1	C	T	9: 50,520,671 (GRCm39)		probably null	Het
Pcnx2	A	T	8: 126,498,796 (GRCm39)	C1568S	probably damaging	Het
Pld5	T	A	1: 175,798,157 (GRCm39)	K352I	probably damaging	Het
Prmt3	A	G	7: 49,467,811 (GRCm39)	D339G	probably benign	Het
Ptbp2	A	G	3: 119,534,054 (GRCm39)	Y272H	probably damaging	Het
Ptprb	A	G	10: 116,163,873 (GRCm39)	D847G	probably benign	Het
Rin1	C	T	19: 5,101,383 (GRCm39)	T89I	probably damaging	Het
Runx1t1	T	C	4: 13,889,868 (GRCm39)	I599T	unknown	Het
Serinc3	A	G	2: 163,474,172 (GRCm39)		probably benign	Het
Slc27a5	C	T	7: 12,728,971 (GRCm39)		probably benign	Het
Terf2	C	T	8: 107,803,329 (GRCm39)	S417N	probably benign	Het
Tyw1	T	C	5: 130,325,612 (GRCm39)	V500A	probably damaging	Het
Upk1b	G	A	16: 38,596,640 (GRCm39)		probably benign	Het
Vmn1r81	C	T	7: 11,994,319 (GRCm39)	M96I	probably benign	Het
Vmn2r11	A	T	5: 109,201,704 (GRCm39)	Y267N	possibly 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
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
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

Posted On

2015-12-18