Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01651:Kcnh7'

102825

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01651

Quality Score

Status

Chromosome

Chromosomal Location

62524428-63014980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62564628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 877 (D877V)

Ref Sequence

ENSEMBL: ENSMUSP00000074563 (fasta)

Gene Model

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

AlphaFold

Q9ER47

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075052
AA Change: D877V

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000074563
Gene: ENSMUSG00000059742
AA Change: D877V

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	T	C	2: 181,136,531 (GRCm39)		probably benign	Het
Alms1	T	A	6: 85,633,458 (GRCm39)	V2980E	probably benign	Het
Anxa7	A	G	14: 20,506,569 (GRCm39)	L457P	probably damaging	Het
Asic2	T	C	11: 80,784,856 (GRCm39)	D310G	probably damaging	Het
Btbd9	T	C	17: 30,439,391 (GRCm39)	S599G	unknown	Het
Col25a1	G	A	3: 130,360,134 (GRCm39)	M487I	probably benign	Het
Ddx42	T	A	11: 106,138,855 (GRCm39)	F885I	probably benign	Het
Foxi3	T	C	6: 70,933,975 (GRCm39)	V154A	probably damaging	Het
Golga3	A	C	5: 110,340,771 (GRCm39)		probably null	Het
Igdcc4	T	C	9: 65,031,394 (GRCm39)	V491A	possibly damaging	Het
Kcnu1	A	G	8: 26,351,123 (GRCm39)	D162G	probably damaging	Het
Morc2a	T	C	11: 3,608,727 (GRCm39)		probably null	Het
Ndufv2	T	C	17: 66,396,466 (GRCm39)	N47S	possibly damaging	Het
Npepl1	T	A	2: 173,956,181 (GRCm39)		probably benign	Het
Or6k4	A	T	1: 173,964,907 (GRCm39)	D199V	probably damaging	Het
Otud7b	C	T	3: 96,060,807 (GRCm39)	Q441*	probably null	Het
Pard3b	A	C	1: 62,518,963 (GRCm39)		probably benign	Het
Pfkfb3	T	C	2: 11,494,495 (GRCm39)	E143G	probably damaging	Het
Pphln1	C	A	15: 93,386,864 (GRCm39)	Q321K	probably damaging	Het
Rnf121	A	G	7: 101,691,862 (GRCm39)	S2P	probably damaging	Het
Slc25a42	G	A	8: 70,639,250 (GRCm39)	R276C	possibly damaging	Het
Smgc	T	C	15: 91,743,986 (GRCm39)		probably benign	Het
Tdrd5	C	T	1: 156,129,397 (GRCm39)	M104I	probably benign	Het
Vmn2r26	T	A	6: 124,027,632 (GRCm39)	N457K	probably benign	Het
Zfp474	T	C	18: 52,771,655 (GRCm39)	S103P	probably damaging	Het
Zfp53	A	G	17: 21,728,348 (GRCm39)	N127S	probably benign	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
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
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

Posted On

2014-01-21