Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Kcnh7'

551750

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62693414-63184287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62877270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 132 (V132A)

Ref Sequence

ENSEMBL: ENSMUSP00000074563 (fasta)

Gene Model

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

AlphaFold

Q9ER47

Predicted Effect

probably benign
Transcript: ENSMUST00000075052
AA Change: V132A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000074563
Gene: ENSMUSG00000059742
AA Change: V132A

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 benign
Transcript: ENSMUST00000112452
AA Change: V132A

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108071
Gene: ENSMUSG00000059742
AA Change: V132A

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 benign
Transcript: ENSMUST00000112454
AA Change: V132A

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108073
Gene: ENSMUSG00000059742
AA Change: V132A

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	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
R0622:Kcnh7	UTSW	2	62837289	splice site	probably null
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
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
R9674:Kcnh7	UTSW	2	62764716	missense	probably damaging	1.00
R9771:Kcnh7	UTSW	2	62739375	missense	probably damaging	1.00
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'- GCGATATGCAAGTCATATGATGTTC -3'
(R):5'- CAATGTAGTAGTAACTGGATTGCAC -3'

Sequencing Primer
(F):5'- TGCAAGTCATATGATGTTCAAAGAGG -3'
(R):5'- GTAACTGGATTGCACTGTATACTC -3'

Posted On

2019-05-15