Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02748:Kcnh1'

306163

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: 0.138) question?

Stock #

IGL02748

Quality Score

Status

Chromosome

Chromosomal Location

191873082-192192467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 191903728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 56 (H56R)

Ref Sequence

ENSEMBL: ENSMUSP00000106468 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078470
AA Change: H56R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077563
Gene: ENSMUSG00000058248
AA Change: H56R

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: H56R

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

SMART Domains

Protein: ENSMUSP00000106468
Gene: ENSMUSG00000058248
AA Change: H56R

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baiap2l1	T	A	5: 144,203,415 (GRCm39)		probably benign	Het
Btbd9	T	C	17: 30,553,271 (GRCm39)	N397S	possibly damaging	Het
Crlf3	A	G	11: 79,950,145 (GRCm39)	S162P	probably damaging	Het
Dctn2	C	T	10: 127,113,142 (GRCm39)	R231C	probably damaging	Het
Dhcr24	T	C	4: 106,421,589 (GRCm39)		probably benign	Het
Efcab12	T	A	6: 115,797,063 (GRCm39)	T364S	probably damaging	Het
Eps8l3	A	G	3: 107,786,684 (GRCm39)		probably benign	Het
Ezh2	A	G	6: 47,535,173 (GRCm39)	L92P	probably damaging	Het
Fbxw15	A	G	9: 109,387,278 (GRCm39)	I239T	possibly damaging	Het
Fndc4	T	C	5: 31,452,130 (GRCm39)	T96A	possibly damaging	Het
Gcn1	G	A	5: 115,748,859 (GRCm39)		probably null	Het
Ifna13	A	G	4: 88,562,097 (GRCm39)	S176P	probably damaging	Het
Lrp1b	T	C	2: 40,592,761 (GRCm39)	D3786G	probably damaging	Het
Mcm3ap	T	A	10: 76,337,082 (GRCm39)	V1339E	probably damaging	Het
Mthfd1l	T	C	10: 3,968,587 (GRCm39)	V414A	possibly damaging	Het
Mthfd1l	T	G	10: 3,930,268 (GRCm39)		probably null	Het
Or10ag56	T	A	2: 87,140,009 (GRCm39)	L312Q	probably damaging	Het
Or5an1c	A	G	19: 12,218,204 (GRCm39)	F274L	probably benign	Het
Or6b3	A	G	1: 92,439,189 (GRCm39)	L187P	probably damaging	Het
Pcdhb15	T	C	18: 37,608,273 (GRCm39)	S502P	probably damaging	Het
Pde5a	T	A	3: 122,554,541 (GRCm39)	N242K	probably damaging	Het
Pik3cb	A	T	9: 98,945,021 (GRCm39)		probably benign	Het
Rab3gap1	A	G	1: 127,865,198 (GRCm39)	M729V	probably damaging	Het
Rai14	A	G	15: 10,589,421 (GRCm39)	V259A	probably benign	Het
Rassf4	T	C	6: 116,616,418 (GRCm39)	I298V	possibly damaging	Het
Senp7	C	T	16: 56,006,457 (GRCm39)	T927M	probably damaging	Het
Snx27	A	T	3: 94,410,872 (GRCm39)	I426N	probably benign	Het
Syce1l	A	T	8: 114,382,097 (GRCm39)		probably benign	Het
Tmem18	T	C	12: 30,638,744 (GRCm39)	*141Q	probably null	Het
Tnrc6c	T	C	11: 117,622,996 (GRCm39)	S1006P	probably benign	Het
Utp20	T	C	10: 88,653,157 (GRCm39)	T308A	probably benign	Het
Vmn2r24	T	A	6: 123,793,057 (GRCm39)	C795S	possibly damaging	Het
Zdhhc20	A	G	14: 58,096,010 (GRCm39)	S143P	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
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
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

2015-04-16