Mutagenetix > Incidental Mutation

Incidental Mutation 'R1330:Kcnh7'

156135

Institutional Source

Beutler Lab

Gene Symbol

Kcnh7

Ensembl Gene

ENSMUSG00000059742

Gene Name

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

Synonyms

erg3, 9330137I11Rik, Kv11.3

MMRRC Submission

039395-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R1330 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62524428-63014980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62607755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 609 (S609P)

Ref Sequence

ENSEMBL: ENSMUSP00000074563 (fasta)

Gene Model

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

AlphaFold

Q9ER47

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075052
AA Change: S609P

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000074563
Gene: ENSMUSG00000059742
AA Change: S609P

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

Meta Mutation Damage Score

0.1913

Coding Region Coverage

1x: 98.5%
3x: 97.2%
10x: 92.6%
20x: 82.0%

Validation Efficiency

100% (40/40)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	T	C	7: 42,097,018 (GRCm39)	T98A	probably benign	Het
Adgre4	T	A	17: 56,085,814 (GRCm39)	C38S	probably benign	Het
Adgrf3	T	A	5: 30,400,093 (GRCm39)	T83S	probably benign	Het
Arhgef40	T	C	14: 52,227,613 (GRCm39)	V453A	probably benign	Het
Art4	A	T	6: 136,831,339 (GRCm39)		probably benign	Het
Cdhr2	A	G	13: 54,882,081 (GRCm39)	K1177R	possibly damaging	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Ddx6	T	C	9: 44,539,070 (GRCm39)		probably benign	Het
Dolk	A	T	2: 30,175,112 (GRCm39)	V311E	probably damaging	Het
Dstyk	A	G	1: 132,377,618 (GRCm39)	N408S	probably benign	Het
Efcab3	A	G	11: 104,637,116 (GRCm39)	Y1049C	possibly damaging	Het
Eva1c	A	C	16: 90,701,284 (GRCm39)	E318D	probably damaging	Het
Frem3	T	A	8: 81,395,468 (GRCm39)	W1832R	probably damaging	Het
Jup	A	T	11: 100,263,502 (GRCm39)	I689N	probably benign	Het
Lrch4	G	A	5: 137,636,051 (GRCm39)	R368Q	probably damaging	Het
Ncbp1	G	A	4: 46,167,354 (GRCm39)	V586M	probably benign	Het
Ncstn	C	T	1: 171,899,092 (GRCm39)	M346I	probably damaging	Het
Osbpl1a	A	G	18: 13,015,251 (GRCm39)		probably null	Het
Pcdh12	A	G	18: 38,414,914 (GRCm39)	V737A	probably benign	Het
Pds5b	T	A	5: 150,684,542 (GRCm39)	M600K	probably damaging	Het
Rbm25	A	G	12: 83,724,666 (GRCm39)	D805G	probably damaging	Het
Rfx7	C	T	9: 72,524,547 (GRCm39)	T579I	probably benign	Het
Rhod	C	A	19: 4,476,182 (GRCm39)	A190S	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Slc22a2	A	C	17: 12,805,699 (GRCm39)	D150A	possibly damaging	Het
Spink11	A	G	18: 44,329,195 (GRCm39)	I17T	unknown	Het
Tas1r2	A	G	4: 139,396,640 (GRCm39)	I660V	probably benign	Het
Utp20	G	A	10: 88,637,051 (GRCm39)	P720L	probably damaging	Het
Vmn1r1	A	T	1: 181,985,572 (GRCm39)	L31H	probably damaging	Het
Vmn2r23	T	C	6: 123,718,963 (GRCm39)	L772P	probably damaging	Het
Wap	T	C	11: 6,586,818 (GRCm39)	T94A	unknown	Het
Wdr47	T	C	3: 108,537,069 (GRCm39)	S586P	probably benign	Het
Zfp318	A	G	17: 46,724,684 (GRCm39)	Y2229C	possibly damaging	Het
Zfp429	T	C	13: 67,544,262 (GRCm39)		probably null	Het

Other mutations in Kcnh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Kcnh7	APN	2	62,595,035 (GRCm39)	missense	probably benign	0.01
IGL00693:Kcnh7	APN	2	62,564,598 (GRCm39)	missense	probably benign	0.06
IGL00776:Kcnh7	APN	2	62,680,720 (GRCm39)	missense	probably benign	0.00
IGL00956:Kcnh7	APN	2	62,607,983 (GRCm39)	missense	probably damaging	1.00
IGL01651:Kcnh7	APN	2	62,564,628 (GRCm39)	missense	possibly damaging	0.47
IGL01780:Kcnh7	APN	2	62,667,507 (GRCm39)	missense	probably benign	0.17
IGL01859:Kcnh7	APN	2	62,552,132 (GRCm39)	missense	probably benign	0.00
IGL02213:Kcnh7	APN	2	62,569,706 (GRCm39)	missense	probably damaging	1.00
IGL02302:Kcnh7	APN	2	62,536,402 (GRCm39)	missense	probably damaging	1.00
IGL02526:Kcnh7	APN	2	62,680,781 (GRCm39)	missense	possibly damaging	0.46
IGL02850:Kcnh7	APN	2	62,618,029 (GRCm39)	nonsense	probably null
IGL02989:Kcnh7	APN	2	62,552,269 (GRCm39)	missense	probably benign
IGL02990:Kcnh7	APN	2	62,536,330 (GRCm39)	missense	probably benign	0.11
G1citation:Kcnh7	UTSW	2	62,618,248 (GRCm39)	missense	probably damaging	1.00
LCD18:Kcnh7	UTSW	2	62,880,143 (GRCm39)	intron	probably benign
R0129:Kcnh7	UTSW	2	62,546,503 (GRCm39)	missense	probably benign	0.00
R0622:Kcnh7	UTSW	2	62,667,633 (GRCm39)	splice site	probably null
R0638:Kcnh7	UTSW	2	62,607,854 (GRCm39)	missense	probably benign	0.13
R1006:Kcnh7	UTSW	2	62,546,527 (GRCm39)	missense	probably benign	0.00
R1200:Kcnh7	UTSW	2	62,607,739 (GRCm39)	missense	probably damaging	1.00
R1614:Kcnh7	UTSW	2	62,680,948 (GRCm39)	missense	probably benign	0.03
R1782:Kcnh7	UTSW	2	62,566,513 (GRCm39)	missense	probably damaging	1.00
R1861:Kcnh7	UTSW	2	62,607,736 (GRCm39)	missense	probably damaging	0.97
R1862:Kcnh7	UTSW	2	62,618,098 (GRCm39)	missense	possibly damaging	0.46
R2197:Kcnh7	UTSW	2	62,607,950 (GRCm39)	missense	probably damaging	1.00
R2510:Kcnh7	UTSW	2	62,552,261 (GRCm39)	missense	probably benign
R2988:Kcnh7	UTSW	2	62,552,172 (GRCm39)	missense	probably benign	0.20
R3024:Kcnh7	UTSW	2	62,595,007 (GRCm39)	missense	probably damaging	1.00
R3433:Kcnh7	UTSW	2	62,552,261 (GRCm39)	missense	probably benign
R4415:Kcnh7	UTSW	2	62,536,417 (GRCm39)	missense	probably damaging	1.00
R4540:Kcnh7	UTSW	2	62,569,530 (GRCm39)	missense	probably damaging	1.00
R4570:Kcnh7	UTSW	2	62,667,439 (GRCm39)	missense	possibly damaging	0.91
R4827:Kcnh7	UTSW	2	62,546,564 (GRCm39)	missense	probably benign
R4990:Kcnh7	UTSW	2	62,564,632 (GRCm39)	missense	probably benign	0.00
R5172:Kcnh7	UTSW	2	62,569,508 (GRCm39)	missense	possibly damaging	0.88
R5822:Kcnh7	UTSW	2	62,546,582 (GRCm39)	missense	probably benign
R5996:Kcnh7	UTSW	2	63,014,441 (GRCm39)	start gained	probably benign
R6142:Kcnh7	UTSW	2	62,569,704 (GRCm39)	missense	possibly damaging	0.95
R6226:Kcnh7	UTSW	2	62,607,903 (GRCm39)	missense	probably damaging	1.00
R6244:Kcnh7	UTSW	2	63,012,570 (GRCm39)	missense	probably damaging	1.00
R6304:Kcnh7	UTSW	2	62,594,960 (GRCm39)	nonsense	probably null
R6400:Kcnh7	UTSW	2	62,569,688 (GRCm39)	missense	probably damaging	1.00
R6430:Kcnh7	UTSW	2	62,680,876 (GRCm39)	missense	probably benign	0.04
R6483:Kcnh7	UTSW	2	62,676,118 (GRCm39)	missense	probably benign	0.06
R6614:Kcnh7	UTSW	2	62,607,940 (GRCm39)	missense	probably damaging	1.00
R6753:Kcnh7	UTSW	2	62,680,721 (GRCm39)	missense	probably benign
R6822:Kcnh7	UTSW	2	62,618,248 (GRCm39)	missense	probably damaging	1.00
R6863:Kcnh7	UTSW	2	62,618,029 (GRCm39)	missense	possibly damaging	0.83
R7104:Kcnh7	UTSW	2	62,618,031 (GRCm39)	missense	possibly damaging	0.82
R7116:Kcnh7	UTSW	2	62,707,614 (GRCm39)	missense	probably benign	0.02
R7263:Kcnh7	UTSW	2	62,566,314 (GRCm39)	splice site	probably null
R7657:Kcnh7	UTSW	2	62,566,379 (GRCm39)	missense	probably damaging	1.00
R7855:Kcnh7	UTSW	2	62,667,538 (GRCm39)	nonsense	probably null
R7968:Kcnh7	UTSW	2	62,566,444 (GRCm39)	missense	probably damaging	1.00
R8183:Kcnh7	UTSW	2	62,533,321 (GRCm39)	missense	probably damaging	0.99
R8343:Kcnh7	UTSW	2	62,680,879 (GRCm39)	missense	probably benign	0.01
R8405:Kcnh7	UTSW	2	62,533,446 (GRCm39)	missense	probably benign	0.04
R8411:Kcnh7	UTSW	2	62,594,952 (GRCm39)	missense	probably damaging	1.00
R8493:Kcnh7	UTSW	2	62,681,003 (GRCm39)	missense	probably benign	0.31
R8744:Kcnh7	UTSW	2	63,012,433 (GRCm39)	missense	possibly damaging	0.93
R8988:Kcnh7	UTSW	2	62,552,209 (GRCm39)	missense
R9082:Kcnh7	UTSW	2	62,607,878 (GRCm39)	missense	probably damaging	1.00
R9206:Kcnh7	UTSW	2	62,607,947 (GRCm39)	missense	probably damaging	1.00
R9272:Kcnh7	UTSW	2	62,618,097 (GRCm39)	missense	probably damaging	0.99
R9382:Kcnh7	UTSW	2	62,667,612 (GRCm39)	missense	probably benign	0.01
R9674:Kcnh7	UTSW	2	62,595,060 (GRCm39)	missense	probably damaging	1.00
R9771:Kcnh7	UTSW	2	62,569,719 (GRCm39)	missense	probably damaging	1.00
X0011:Kcnh7	UTSW	2	62,595,067 (GRCm39)	missense	probably damaging	0.99
Z1088:Kcnh7	UTSW	2	63,014,412 (GRCm39)	missense	probably damaging	1.00
Z1088:Kcnh7	UTSW	2	62,566,447 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACAACATTGGGAGGCCCTAGAAC -3'
(R):5'- GCATATTTGCCCTGATTGCCCACTG -3'

Sequencing Primer
(F):5'- TGGGAGGCCCTAGAACTAACC -3'
(R):5'- CATCTGGTATGCGATTGGGA -3'

Posted On

2014-02-11