Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02213:Kcnh7'

284760

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 #

IGL02213

Quality Score

Status

Chromosome

Chromosomal Location

62524428-63014980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62569706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 730 (D730G)

Ref Sequence

ENSEMBL: ENSMUSP00000074563 (fasta)

Gene Model

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

AlphaFold

Q9ER47

Predicted Effect

probably damaging
Transcript: ENSMUST00000075052
AA Change: D730G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074563
Gene: ENSMUSG00000059742
AA Change: D730G

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	G	A	9: 54,523,254 (GRCm39)	R458C	probably damaging	Het
Aldh6a1	T	A	12: 84,479,326 (GRCm39)		probably benign	Het
Ankrd13a	C	T	5: 114,924,029 (GRCm39)	R42W	probably damaging	Het
Arhgef17	T	C	7: 100,539,633 (GRCm39)	M73V	probably benign	Het
Borcs6	A	G	11: 68,950,679 (GRCm39)	E19G	probably benign	Het
Cacna2d2	C	T	9: 107,391,247 (GRCm39)	R425C	probably damaging	Het
Cap2	T	A	13: 46,789,087 (GRCm39)		probably benign	Het
Ccdc146	C	T	5: 21,521,902 (GRCm39)	R374H	probably benign	Het
Cdk5rap2	A	G	4: 70,235,839 (GRCm39)		probably benign	Het
Cyp3a57	A	G	5: 145,318,090 (GRCm39)	D357G	probably damaging	Het
Dleu7	C	T	14: 62,514,404 (GRCm39)	V193M	probably benign	Het
Dmxl1	T	A	18: 50,010,741 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,272,752 (GRCm39)	F2293L	probably damaging	Het
Fgf22	G	T	10: 79,592,449 (GRCm39)	V75L	probably damaging	Het
Fras1	C	A	5: 96,793,730 (GRCm39)	C1017*	probably null	Het
Frmd3	A	C	4: 74,054,109 (GRCm39)	I173L	probably benign	Het
Fst	T	C	13: 114,592,390 (GRCm39)	N109S	possibly damaging	Het
Greb1	A	G	12: 16,756,233 (GRCm39)	L801P	probably damaging	Het
Ift88	A	G	14: 57,715,502 (GRCm39)	D515G	probably damaging	Het
Mbd1	A	T	18: 74,408,453 (GRCm39)	I231F	probably damaging	Het
Mre11a	T	A	9: 14,723,180 (GRCm39)	F358I	probably damaging	Het
Mroh9	G	T	1: 162,885,648 (GRCm39)	T328K	probably damaging	Het
Nostrin	T	C	2: 69,014,262 (GRCm39)	L406P	probably benign	Het
Ntrk3	T	A	7: 78,112,679 (GRCm39)	Q159L	probably benign	Het
Oca2	T	C	7: 55,971,232 (GRCm39)		probably benign	Het
Or4k49	A	T	2: 111,495,020 (GRCm39)	T150S	probably benign	Het
Or51af1	T	A	7: 103,141,695 (GRCm39)	H130L	probably benign	Het
Or5p54	T	C	7: 107,554,511 (GRCm39)	I221T	probably damaging	Het
Pfdn4	C	T	2: 170,357,695 (GRCm39)	Q21*	probably null	Het
Pkd1l3	T	C	8: 110,357,977 (GRCm39)	F823S	probably damaging	Het
Rnf212	C	T	5: 108,895,276 (GRCm39)		probably benign	Het
Sbspon	T	C	1: 15,929,150 (GRCm39)	S214G	probably benign	Het
Slc12a7	T	C	13: 73,945,822 (GRCm39)		probably null	Het
Ugt3a1	A	T	15: 9,370,310 (GRCm39)	M485L	probably benign	Het
Vav1	T	C	17: 57,612,351 (GRCm39)	V561A	possibly damaging	Het
Vldlr	A	G	19: 27,218,726 (GRCm39)	T485A	probably benign	Het
Wiz	T	C	17: 32,586,834 (GRCm39)	T159A	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
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
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

2015-04-16