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

erg3, 9330137I11Rik, Kv11.3

Accession Numbers

Essential gene?

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

Stock #

R4415 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62524428-63014980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62536417 bp (GRCm39)

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
Ace3	A	T	11: 105,895,947 (GRCm39)	D631V	probably benign	Het
Adam17	T	C	12: 21,395,702 (GRCm39)	I274V	possibly damaging	Het
Aebp1	A	G	11: 5,815,451 (GRCm39)	D303G	probably damaging	Het
B020004C17Rik	T	C	14: 57,254,874 (GRCm39)	*233R	probably null	Het
Bcl9l	C	T	9: 44,413,176 (GRCm39)	P127S	possibly damaging	Het
Bdp1	T	C	13: 100,167,369 (GRCm39)	D2215G	probably damaging	Het
Caly	T	C	7: 139,652,593 (GRCm39)	T52A	probably damaging	Het
Ccdc125	T	C	13: 100,832,817 (GRCm39)	S465P	possibly damaging	Het
Cdc23	ACC	AC	18: 34,770,371 (GRCm39)		probably null	Het
Colq	T	C	14: 31,257,645 (GRCm39)	K231E	probably damaging	Het
Fam32a	T	A	8: 72,975,785 (GRCm39)	I77N	probably damaging	Het
Impdh1	C	T	6: 29,209,221 (GRCm39)	V49M	probably damaging	Het
Lad1	A	G	1: 135,756,484 (GRCm39)	D364G	probably benign	Het
Lama2	G	T	10: 26,865,340 (GRCm39)	Y947*	probably null	Het
Myo5b	T	A	18: 74,713,479 (GRCm39)	I108N	probably damaging	Het
Nvl	T	C	1: 180,932,679 (GRCm39)	T713A	probably benign	Het
Oit3	T	C	10: 59,263,925 (GRCm39)	Y403C	probably damaging	Het
Or6c70	T	C	10: 129,709,826 (GRCm39)	T267A	probably benign	Het
Pappa	A	G	4: 65,223,532 (GRCm39)	T1236A	probably benign	Het
Pip4p2	C	T	4: 14,912,463 (GRCm39)	R191C	probably damaging	Het
Rcl1	G	A	19: 29,095,762 (GRCm39)	V116I	probably benign	Het
Rdh14	G	A	12: 10,441,231 (GRCm39)		probably null	Het
Rfx2	T	A	17: 57,094,733 (GRCm39)	T204S	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Ripor1	T	C	8: 106,344,608 (GRCm39)	S581P	probably benign	Het
Rnf213	T	A	11: 119,374,790 (GRCm39)	V5084E	probably damaging	Het
Scn9a	A	T	2: 66,357,037 (GRCm39)	V1077E	probably damaging	Het
Slc15a5	A	G	6: 138,056,754 (GRCm39)	V54A	probably benign	Het
Slc35b2	G	A	17: 45,877,355 (GRCm39)	V161M	probably benign	Het
Snx19	T	A	9: 30,348,779 (GRCm39)	L804Q	probably damaging	Het
Spata31e5	T	A	1: 28,816,214 (GRCm39)	Q606L	probably benign	Het
Specc1l	C	A	10: 75,082,162 (GRCm39)	N519K	possibly damaging	Het
Spmip6	T	C	4: 41,505,574 (GRCm39)	T183A	possibly damaging	Het
Stambp	A	T	6: 83,534,464 (GRCm39)	N274K	probably damaging	Het
Stox1	T	C	10: 62,495,348 (GRCm39)	N975S	probably benign	Het
Tacc3	T	G	5: 33,824,028 (GRCm39)		probably null	Het
Tubb1	G	A	2: 174,299,466 (GRCm39)	E383K	probably benign	Het
Ube3b	A	T	5: 114,550,505 (GRCm39)	D844V	probably damaging	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
R1330:Kcnh7	UTSW	2	62,607,755 (GRCm39)	missense	possibly damaging	0.56
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
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'- AGGTGATCCCTGGAGATATGCTC -3'
(R):5'- AAGTGGGAGAGAGTCTCTGTC -3'

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

Posted On

2015-07-07