Mutagenetix > Incidental Mutation

Incidental Mutation 'R2988:Kcnh7'

257832

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 #

R2988 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62524428-63014980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62552172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 940 (I940F)

Ref Sequence

ENSEMBL: ENSMUSP00000074563 (fasta)

Gene Model

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

AlphaFold

Q9ER47

Predicted Effect

probably benign
Transcript: ENSMUST00000075052
AA Change: I940F

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000074563
Gene: ENSMUSG00000059742
AA Change: I940F

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: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.4%

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	C	A	12: 80,239,162 (GRCm39)	A248S	possibly damaging	Het
Chd9	A	G	8: 91,757,088 (GRCm39)		probably null	Het
Cnot1	T	C	8: 96,470,906 (GRCm39)	E1314G	possibly damaging	Het
Exoc6b	T	A	6: 84,828,929 (GRCm39)	K485I	probably damaging	Het
Foxn1	C	G	11: 78,249,603 (GRCm39)	G641R	possibly damaging	Het
Lipk	T	C	19: 33,999,137 (GRCm39)	F139S	probably damaging	Het
Nr1h3	T	C	2: 91,015,349 (GRCm39)	N285S	probably damaging	Het
Or1r1	C	A	11: 73,874,627 (GRCm39)	R269L	probably benign	Het
Or5p60	G	A	7: 107,724,045 (GRCm39)	Q142*	probably null	Het
Ptpro	C	T	6: 137,420,597 (GRCm39)	Q188*	probably null	Het
Skic3	T	A	13: 76,303,808 (GRCm39)	M1242K	probably benign	Het
Slc22a8	A	G	19: 8,587,612 (GRCm39)	T529A	probably benign	Het
Spef2	A	T	15: 9,682,709 (GRCm39)	S591T	probably benign	Het
Tmem161b	C	T	13: 84,440,574 (GRCm39)	R149*	probably null	Het
Trp53	T	C	11: 69,479,332 (GRCm39)	V170A	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
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'- TGGGAACAATGTTGTAAAATTGTGT -3'
(R):5'- CAAAGTCCCAGGTTTGGCTT -3'

Sequencing Primer
(F):5'- TGTTTCATGAAAGAATCGGAAGG -3'
(R):5'- AAAGTCCCAGGTTTGGCTTTTCAC -3'

Posted On

2015-01-11