Mutagenetix > Incidental Mutation

Incidental Mutation 'R4415:Kcnh7'

326780

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R4415 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62693414-63184287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62706073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1055 (I1055T)

Ref Sequence

ENSEMBL: ENSMUSP00000074563 (fasta)

Gene Model

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

AlphaFold

Q9ER47

Predicted Effect

probably damaging
Transcript: ENSMUST00000075052
AA Change: I1055T

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

SMART Domains

Protein: ENSMUSP00000074563
Gene: ENSMUSG00000059742
AA Change: I1055T

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
Ace3	A	T	11: 106,005,121	D631V	probably benign	Het
Adam17	T	C	12: 21,345,701	I274V	possibly damaging	Het
Aebp1	A	G	11: 5,865,451	D303G	probably damaging	Het
B020004C17Rik	T	C	14: 57,017,417	*233R	probably null	Het
Bcl9l	C	T	9: 44,501,879	P127S	possibly damaging	Het
Bdp1	T	C	13: 100,030,861	D2215G	probably damaging	Het
Caly	T	C	7: 140,072,680	T52A	probably damaging	Het
Ccdc125	T	C	13: 100,696,309	S465P	possibly damaging	Het
Cdc23	ACC	AC	18: 34,637,318		probably null	Het
Colq	T	C	14: 31,535,688	K231E	probably damaging	Het
Fam32a	T	A	8: 72,221,941	I77N	probably damaging	Het
Gm597	T	A	1: 28,777,133	Q606L	probably benign	Het
Impdh1	C	T	6: 29,209,222	V49M	probably damaging	Het
Lad1	A	G	1: 135,828,746	D364G	probably benign	Het
Lama2	G	T	10: 26,989,344	Y947*	probably null	Het
Myo5b	T	A	18: 74,580,408	I108N	probably damaging	Het
Nvl	T	C	1: 181,105,114	T713A	probably benign	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr814	T	C	10: 129,873,957	T267A	probably benign	Het
Pappa	A	G	4: 65,305,295	T1236A	probably benign	Het
Rcl1	G	A	19: 29,118,362	V116I	probably benign	Het
Rdh14	G	A	12: 10,391,231		probably null	Het
Rfx2	T	A	17: 56,787,733	T204S	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Ripor1	T	C	8: 105,617,976	S581P	probably benign	Het
Rnf213	T	A	11: 119,483,964	V5084E	probably damaging	Het
Scn9a	A	T	2: 66,526,693	V1077E	probably damaging	Het
Slc15a5	A	G	6: 138,079,756	V54A	probably benign	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Snx19	T	A	9: 30,437,483	L804Q	probably damaging	Het
Specc1l	C	A	10: 75,246,328	N519K	possibly damaging	Het
Stambp	A	T	6: 83,557,482	N274K	probably damaging	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Tacc3	T	G	5: 33,666,684		probably null	Het
Tmem55a	C	T	4: 14,912,463	R191C	probably damaging	Het
Tubb1	G	A	2: 174,457,673	E383K	probably benign	Het
Ube3b	A	T	5: 114,412,444	D844V	probably damaging	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
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
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'- AGGTGATCCCTGGAGATATGCTC -3'
(R):5'- AAGTGGGAGAGAGTCTCTGTC -3'

Sequencing Primer
(F):5'- TCCCTGGAGATATGCTCAAAGAGTC -3'
(R):5'- GAGAGAGTCTCTGTCCTTCCC -3'

Posted On

2015-07-07