Mutagenetix > Incidental Mutations

Incidental Mutation 'R0622:Kcnh7'

58709

Institutional Source

Beutler Lab

Gene Symbol

Kcnh7

Ensembl Gene

ENSMUSG00000059742

Gene Name

potassium voltage-gated channel, subfamily H (eag-related), member 7

Synonyms

Kv11.3, 9330137I11Rik, erg3

MMRRC Submission

038811-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R0622 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

62693414-63184287 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 62837289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075052] [ENSMUST00000112452] [ENSMUST00000112454]

AlphaFold

Q9ER47

Predicted Effect

probably null
Transcript: ENSMUST00000075052

SMART Domains

Protein: ENSMUSP00000074563
Gene: ENSMUSG00000059742

Domain	Start	End	E-Value	Type
PAS	20	87	8.97e0	SMART
PAC	93	135	3.48e-1	SMART
Pfam:Ion_trans	407	674	4.9e-39	PFAM
Pfam:Ion_trans_2	588	668	3.2e-13	PFAM
cNMP	745	863	1.5e-23	SMART
low complexity region	921	940	N/A	INTRINSIC
coiled coil region	1022	1058	N/A	INTRINSIC
low complexity region	1114	1127	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112452

SMART Domains

Protein: ENSMUSP00000108071
Gene: ENSMUSG00000059742

Domain	Start	End	E-Value	Type
PAS	20	87	8.97e0	SMART
PAC	93	135	3.48e-1	SMART
Blast:MYSc	309	426	4e-24	BLAST
low complexity region	446	461	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112454

SMART Domains

Protein: ENSMUSP00000108073
Gene: ENSMUSG00000059742

Domain	Start	End	E-Value	Type
PAS	20	87	8.97e0	SMART
PAC	93	135	3.48e-1	SMART
Blast:MYSc	316	433	3e-24	BLAST
low complexity region	453	468	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

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. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	T	A	13: 30,381,681	M243K	probably benign	Het
Ap1b1	A	G	11: 5,037,707	M744V	probably damaging	Het
C87977	T	C	4: 144,213,013		probably benign	Het
Ccdc152	T	C	15: 3,298,178	N39S	probably damaging	Het
Cd163	G	A	6: 124,317,352	V490M	probably damaging	Het
Col6a5	G	T	9: 105,925,852	H1305N	unknown	Het
Cpb1	C	A	3: 20,249,818	D361Y	probably damaging	Het
Dchs1	T	A	7: 105,763,449	Y1248F	probably damaging	Het
Dhdds	G	C	4: 133,994,236	F83L	probably damaging	Het
Dsg4	T	A	18: 20,449,788	V161E	possibly damaging	Het
Exosc4	A	G	15: 76,327,536	D15G	probably damaging	Het
F3	A	T	3: 121,725,019	D44V	probably damaging	Het
Fat2	A	T	11: 55,283,128	F2253Y	probably damaging	Het
Fbn1	T	C	2: 125,379,024	D650G	possibly damaging	Het
Gramd4	T	A	15: 86,091,389	F36I	probably damaging	Het
Grm7	G	A	6: 111,358,496	A623T	probably damaging	Het
Gys1	A	T	7: 45,439,995	T193S	probably damaging	Het
Hectd4	A	G	5: 121,348,625	T3228A	possibly damaging	Het
Itpk1	G	T	12: 102,573,980	D281E	probably damaging	Het
Klhl29	A	G	12: 5,081,224	L852P	probably damaging	Het
Lrch1	T	C	14: 74,796,051	Y509C	probably benign	Het
Lrp1b	A	G	2: 41,728,551		probably null	Het
Mcpt4	C	A	14: 56,060,662	R144L	probably benign	Het
Mia2	C	T	12: 59,131,578	R12W	probably damaging	Het
Mrps5	A	G	2: 127,594,531	K116R	probably benign	Het
Myrf	G	A	19: 10,223,452	P286S	probably damaging	Het
Nanp	A	G	2: 151,039,244	M28T	probably benign	Het
Neb	T	C	2: 52,212,951	I4472V	probably benign	Het
Nfix	A	C	8: 84,726,482	N314K	probably damaging	Het
Nlrc3	C	T	16: 3,953,968	R849Q	probably benign	Het
Nup210l	G	A	3: 90,167,740	V786M	probably damaging	Het
Olfr1346	T	C	7: 6,474,599	I163T	possibly damaging	Het
Olfr314	T	C	11: 58,786,341	S36P	probably damaging	Het
Olfr600	A	G	7: 103,346,857	S24P	probably damaging	Het
Olfr898	A	G	9: 38,349,371	N96S	possibly damaging	Het
Pdia4	A	T	6: 47,806,518	F197Y	probably damaging	Het
Phldb1	T	C	9: 44,715,852	D432G	probably damaging	Het
Pik3ca	A	G	3: 32,436,552	E116G	probably damaging	Het
Polq	T	C	16: 37,060,993	V1173A	probably benign	Het
Pou2f3	C	T	9: 43,125,119	R423H	probably damaging	Het
Prkag2	T	C	5: 24,869,249	N246S	probably damaging	Het
Proser1	A	G	3: 53,477,860	S388G	probably benign	Het
Ralgps1	G	A	2: 33,174,447	R238*	probably null	Het
Rfx2	T	C	17: 56,777,071	D657G	probably damaging	Het
Ryr3	A	G	2: 112,662,555	F3724S	probably damaging	Het
Sh2d5	T	C	4: 138,259,228	S421P	probably damaging	Het
Slc17a2	C	A	13: 23,812,611	T33K	probably damaging	Het
St8sia5	A	G	18: 77,246,113	T156A	probably damaging	Het
Stk32c	T	C	7: 139,188,110	D85G	probably benign	Het
Tnks	A	G	8: 34,940,822	S251P	probably damaging	Het
Tnxb	T	A	17: 34,718,729	L3864Q	probably damaging	Het
Trim9	A	G	12: 70,346,604	Y189H	probably damaging	Het
Vmn1r77	T	G	7: 12,041,388	F30L	probably benign	Het
Wasf3	A	G	5: 146,466,792		probably null	Het
Wdr90	C	T	17: 25,855,658	C603Y	probably damaging	Het
Zdhhc25	T	C	15: 88,601,107	L215P	probably damaging	Het
Zeb1	C	T	18: 5,759,123	Q140*	probably null	Het
Zfp677	C	T	17: 21,397,700	L340F	probably benign	Het

Other mutations in Kcnh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Kcnh7	APN	2	62764691	missense	probably benign	0.01
IGL00693:Kcnh7	APN	2	62734254	missense	probably benign	0.06
IGL00776:Kcnh7	APN	2	62850376	missense	probably benign	0.00
IGL00956:Kcnh7	APN	2	62777639	missense	probably damaging	1.00
IGL01651:Kcnh7	APN	2	62734284	missense	possibly damaging	0.47
IGL01780:Kcnh7	APN	2	62837163	missense	probably benign	0.17
IGL01859:Kcnh7	APN	2	62721788	missense	probably benign	0.00
IGL02213:Kcnh7	APN	2	62739362	missense	probably damaging	1.00
IGL02302:Kcnh7	APN	2	62706058	missense	probably damaging	1.00
IGL02526:Kcnh7	APN	2	62850437	missense	possibly damaging	0.46
IGL02850:Kcnh7	APN	2	62787685	nonsense	probably null
IGL02989:Kcnh7	APN	2	62721925	missense	probably benign
IGL02990:Kcnh7	APN	2	62705986	missense	probably benign	0.11
G1citation:Kcnh7	UTSW	2	62787904	missense	probably damaging	1.00
LCD18:Kcnh7	UTSW	2	63049799	intron	probably benign
R0129:Kcnh7	UTSW	2	62716159	missense	probably benign	0.00
R0638:Kcnh7	UTSW	2	62777510	missense	probably benign	0.13
R1006:Kcnh7	UTSW	2	62716183	missense	probably benign	0.00
R1200:Kcnh7	UTSW	2	62777395	missense	probably damaging	1.00
R1330:Kcnh7	UTSW	2	62777411	missense	possibly damaging	0.56
R1614:Kcnh7	UTSW	2	62850604	missense	probably benign	0.03
R1782:Kcnh7	UTSW	2	62736169	missense	probably damaging	1.00
R1861:Kcnh7	UTSW	2	62777392	missense	probably damaging	0.97
R1862:Kcnh7	UTSW	2	62787754	missense	possibly damaging	0.46
R2197:Kcnh7	UTSW	2	62777606	missense	probably damaging	1.00
R2510:Kcnh7	UTSW	2	62721917	missense	probably benign
R2988:Kcnh7	UTSW	2	62721828	missense	probably benign	0.20
R3024:Kcnh7	UTSW	2	62764663	missense	probably damaging	1.00
R3433:Kcnh7	UTSW	2	62721917	missense	probably benign
R4415:Kcnh7	UTSW	2	62706073	missense	probably damaging	1.00
R4540:Kcnh7	UTSW	2	62739186	missense	probably damaging	1.00
R4570:Kcnh7	UTSW	2	62837095	missense	possibly damaging	0.91
R4827:Kcnh7	UTSW	2	62716220	missense	probably benign
R4990:Kcnh7	UTSW	2	62734288	missense	probably benign	0.00
R5172:Kcnh7	UTSW	2	62739164	missense	possibly damaging	0.88
R5822:Kcnh7	UTSW	2	62716238	missense	probably benign
R5996:Kcnh7	UTSW	2	63184097	start gained	probably benign
R6142:Kcnh7	UTSW	2	62739360	missense	possibly damaging	0.95
R6226:Kcnh7	UTSW	2	62777559	missense	probably damaging	1.00
R6244:Kcnh7	UTSW	2	63182226	missense	probably damaging	1.00
R6304:Kcnh7	UTSW	2	62764616	nonsense	probably null
R6400:Kcnh7	UTSW	2	62739344	missense	probably damaging	1.00
R6430:Kcnh7	UTSW	2	62850532	missense	probably benign	0.04
R6483:Kcnh7	UTSW	2	62845774	missense	probably benign	0.06
R6614:Kcnh7	UTSW	2	62777596	missense	probably damaging	1.00
R6753:Kcnh7	UTSW	2	62850377	missense	probably benign
R6822:Kcnh7	UTSW	2	62787904	missense	probably damaging	1.00
R6863:Kcnh7	UTSW	2	62787685	missense	possibly damaging	0.83
R7104:Kcnh7	UTSW	2	62787687	missense	possibly damaging	0.82
R7116:Kcnh7	UTSW	2	62877270	missense	probably benign	0.02
R7263:Kcnh7	UTSW	2	62735970	splice site	probably null
R7657:Kcnh7	UTSW	2	62736035	missense	probably damaging	1.00
R7855:Kcnh7	UTSW	2	62837194	nonsense	probably null
R7968:Kcnh7	UTSW	2	62736100	missense	probably damaging	1.00
R8183:Kcnh7	UTSW	2	62702977	missense	probably damaging	0.99
R8343:Kcnh7	UTSW	2	62850535	missense	probably benign	0.01
R8405:Kcnh7	UTSW	2	62703102	missense	probably benign	0.04
R8411:Kcnh7	UTSW	2	62764608	missense	probably damaging	1.00
R8493:Kcnh7	UTSW	2	62850659	missense	probably benign	0.31
R8744:Kcnh7	UTSW	2	63182089	missense	possibly damaging	0.93
R8988:Kcnh7	UTSW	2	62721865	missense
R9082:Kcnh7	UTSW	2	62777534	missense	probably damaging	1.00
R9206:Kcnh7	UTSW	2	62777603	missense	probably damaging	1.00
R9272:Kcnh7	UTSW	2	62787753	missense	probably damaging	0.99
R9382:Kcnh7	UTSW	2	62837268	missense	probably benign	0.01
X0011:Kcnh7	UTSW	2	62764723	missense	probably damaging	0.99
Z1088:Kcnh7	UTSW	2	62736103	missense	probably damaging	1.00
Z1088:Kcnh7	UTSW	2	63184068	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGCTCAATTTAGTGGAATCAGTGCAA -3'
(R):5'- TCCCTCTGTGTGGCAAAAGGTG -3'

Sequencing Primer
(F):5'- GCTTCATGGTACAGAAAATAGCC -3'
(R):5'- AGGTGTTCATATATAAACTCACTGC -3'

Posted On

2013-07-11