Mutagenetix > Incidental Mutation

Incidental Mutation 'RF021:Kcnh8'

603908

Institutional Source

Beutler Lab

Gene Symbol

Kcnh8

Ensembl Gene

ENSMUSG00000035580

Gene Name

potassium voltage-gated channel, subfamily H (eag-related), member 8

Synonyms

ELK1, Kv12.1, C130090D05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52909737-53286222 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53285267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1079 (R1079H)

Ref Sequence

ENSEMBL: ENSMUSP00000049206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039366]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039366
AA Change: R1079H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: R1079H

Domain	Start	End	E-Value	Type
Blast:PAS	16	88	9e-35	BLAST
PAC	94	136	3.42e-9	SMART
Pfam:Ion_trans	221	481	4.9e-36	PFAM
Pfam:Ion_trans_2	411	475	1.1e-12	PFAM
cNMP	551	666	1.17e-16	SMART
low complexity region	710	722	N/A	INTRINSIC
coiled coil region	853	897	N/A	INTRINSIC
low complexity region	1020	1036	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

91% (50/55)

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,891,290 (GRCm39)		probably benign	Het
AI837181	CGG	CGGTGG	19: 5,475,262 (GRCm39)		probably benign	Het
Ankrd44	T	C	1: 54,817,471 (GRCm39)	H79R	probably damaging	Het
Atg9a	T	A	1: 75,159,273 (GRCm39)	E826V	probably damaging	Het
Atrnl1	T	C	19: 57,630,905 (GRCm39)	V224A	probably benign	Het
Bltp1	TTATTATTATTAT	TTATTATTATTATTAATATTATTATTAT	3: 37,104,897 (GRCm39)		probably benign	Het
Cpn2	G	A	16: 30,078,156 (GRCm39)	A515V	probably benign	Het
Cyp2a12	T	C	7: 26,734,785 (GRCm39)	F402S	possibly damaging	Het
Defb22	TGCGGCA	TGCGGCAGAGCTGGGCGTTGCGGCA	2: 152,327,752 (GRCm39)		probably benign	Het
Dnah10	G	T	5: 124,854,971 (GRCm39)	V2016F	probably damaging	Het
Dock10	T	C	1: 80,542,290 (GRCm39)		probably null	Het
Efhd2	GCC	GCCGCCCCC	4: 141,602,084 (GRCm39)		probably benign	Het
Fam131a	A	C	16: 20,513,690 (GRCm39)		probably benign	Het
Gm7247	AGACCAGACC	A	14: 51,601,781 (GRCm39)		probably benign	Het
Gna13	T	C	11: 109,283,218 (GRCm39)	V186A	probably benign	Het
Grk3	T	A	5: 113,089,554 (GRCm39)	I333L	probably benign	Het
Gstp1	A	T	19: 4,085,507 (GRCm39)	V200E	probably benign	Het
Gtf2h1	T	G	7: 46,453,289 (GRCm39)	V74G	possibly damaging	Het
Kiz	A	G	2: 146,712,750 (GRCm39)	D138G	possibly damaging	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,285,782 (GRCm39)		probably benign	Het
Lats1	A	G	10: 7,586,372 (GRCm39)	T912A	probably damaging	Het
Lce1m	GCTGCCACC	GCTGCCACCACTTCTGCCACC	3: 92,925,576 (GRCm39)		probably benign	Het
Lce1m	TGCC	TGCCGCCGCTGCCGCC	3: 92,925,602 (GRCm39)		probably benign	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,810,744 (GRCm39)		probably null	Het
Med12l	T	C	3: 58,980,711 (GRCm39)	F359S	probably benign	Het
Mmut	A	G	17: 41,262,649 (GRCm39)	I444V	probably benign	Het
Ncoa2	CTTAAAA	C	1: 13,219,333 (GRCm39)		probably benign	Het
Ngp	A	G	9: 110,250,824 (GRCm39)	T114A	possibly damaging	Het
Nlrc5	A	T	8: 95,203,516 (GRCm39)	T539S	probably benign	Het
Nxf1	A	G	19: 8,749,673 (GRCm39)	D190G	probably damaging	Het
Or6c2b	A	T	10: 128,948,211 (GRCm39)	F28I	probably damaging	Het
Or8g2	A	T	9: 39,821,341 (GRCm39)	M81L	probably benign	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Prdm15	G	A	16: 97,609,956 (GRCm39)	H563Y	probably damaging	Het
Rbm12	CAGG	CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG	2: 155,938,026 (GRCm39)		probably benign	Het
Sema3g	C	T	14: 30,949,798 (GRCm39)	H660Y	probably damaging	Het
Slco1a8	A	T	6: 141,954,440 (GRCm39)	V31E	probably damaging	Het
Smarca2	AGCAGCAGCAGCAGCAGCAGCA	AGCAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,608,397 (GRCm39)		probably benign	Het
Stpg2	A	T	3: 138,918,011 (GRCm39)		probably null	Het
Taar7f	C	T	10: 23,926,321 (GRCm39)	T305M	possibly damaging	Het
Tbcb	C	T	7: 29,923,771 (GRCm39)	V208M	probably damaging	Het
Tenm2	T	A	11: 35,915,030 (GRCm39)	Q2169L	possibly damaging	Het
Tln1	A	G	4: 43,555,890 (GRCm39)	V108A	probably damaging	Het
Tmc8	T	C	11: 117,674,060 (GRCm39)	M42T	probably benign	Het
Trdc	T	C	14: 54,381,660 (GRCm39)	V115A		Het
Ttbk2	A	G	2: 120,579,115 (GRCm39)	V669A	probably benign	Het
Tusc1	GCC	GCCACCACC	4: 93,223,553 (GRCm39)		probably benign	Het
Utp25	A	G	1: 192,802,974 (GRCm39)	F248L	probably benign	Het
Vps16	A	G	2: 130,280,129 (GRCm39)	H118R	probably benign	Het
Wdpcp	T	A	11: 21,661,587 (GRCm39)	C286*	probably null	Het
Zbed4	C	A	15: 88,665,439 (GRCm39)	Y502*	probably null	Het
Zdbf2	T	A	1: 63,341,811 (GRCm39)	N63K	possibly damaging	Het

Other mutations in Kcnh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Kcnh8	APN	17	53,141,708 (GRCm39)	missense	probably damaging	1.00
IGL01901:Kcnh8	APN	17	53,201,148 (GRCm39)	splice site	probably benign
IGL01959:Kcnh8	APN	17	53,141,635 (GRCm39)	missense	probably damaging	1.00
IGL02214:Kcnh8	APN	17	53,184,939 (GRCm39)	missense	possibly damaging	0.88
IGL02528:Kcnh8	APN	17	53,110,556 (GRCm39)	missense	probably damaging	1.00
IGL02620:Kcnh8	APN	17	53,205,525 (GRCm39)	missense	probably damaging	0.99
IGL02688:Kcnh8	APN	17	53,266,471 (GRCm39)	missense	probably benign	0.00
IGL02931:Kcnh8	APN	17	53,263,650 (GRCm39)	missense	probably benign	0.00
IGL02950:Kcnh8	APN	17	53,263,795 (GRCm39)	missense	probably benign	0.22
Incompetent	UTSW	17	53,201,129 (GRCm39)	missense	probably damaging	1.00
leak	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R0282:Kcnh8	UTSW	17	53,032,879 (GRCm39)	missense	probably damaging	1.00
R0448:Kcnh8	UTSW	17	53,284,648 (GRCm39)	splice site	probably null
R0496:Kcnh8	UTSW	17	53,032,886 (GRCm39)	missense	probably benign	0.19
R0601:Kcnh8	UTSW	17	53,201,033 (GRCm39)	missense	probably damaging	1.00
R0671:Kcnh8	UTSW	17	53,285,141 (GRCm39)	nonsense	probably null
R0891:Kcnh8	UTSW	17	53,212,242 (GRCm39)	missense	probably damaging	1.00
R0971:Kcnh8	UTSW	17	53,032,927 (GRCm39)	missense	probably benign	0.00
R1054:Kcnh8	UTSW	17	53,110,512 (GRCm39)	missense	probably damaging	1.00
R1237:Kcnh8	UTSW	17	53,200,989 (GRCm39)	missense	probably damaging	1.00
R1237:Kcnh8	UTSW	17	53,200,988 (GRCm39)	missense	probably damaging	1.00
R1565:Kcnh8	UTSW	17	53,263,909 (GRCm39)	missense	probably benign
R1657:Kcnh8	UTSW	17	53,146,153 (GRCm39)	missense	probably damaging	1.00
R1669:Kcnh8	UTSW	17	53,200,996 (GRCm39)	missense	probably damaging	1.00
R1786:Kcnh8	UTSW	17	53,200,961 (GRCm39)	missense	probably damaging	1.00
R1803:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R1804:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R1929:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R1980:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R1981:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R1982:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2016:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2017:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2132:Kcnh8	UTSW	17	53,200,961 (GRCm39)	missense	probably damaging	1.00
R2133:Kcnh8	UTSW	17	53,200,961 (GRCm39)	missense	probably damaging	1.00
R2208:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2265:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2266:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2267:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2303:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2309:Kcnh8	UTSW	17	53,285,067 (GRCm39)	missense	probably damaging	1.00
R2760:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2764:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2857:Kcnh8	UTSW	17	53,284,961 (GRCm39)	missense	probably benign
R2898:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2987:Kcnh8	UTSW	17	53,263,763 (GRCm39)	missense	probably benign	0.05
R3031:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R3157:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R3158:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4080:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4081:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4082:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4087:Kcnh8	UTSW	17	53,110,428 (GRCm39)	missense	possibly damaging	0.93
R4132:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4158:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4213:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4301:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4302:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4383:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4385:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4400:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4490:Kcnh8	UTSW	17	53,268,905 (GRCm39)	critical splice donor site	probably null
R4493:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4494:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4611:Kcnh8	UTSW	17	52,909,864 (GRCm39)	missense	probably benign	0.22
R4728:Kcnh8	UTSW	17	53,032,898 (GRCm39)	missense	probably damaging	1.00
R4810:Kcnh8	UTSW	17	53,212,248 (GRCm39)	splice site	probably null
R4927:Kcnh8	UTSW	17	53,185,009 (GRCm39)	missense	probably damaging	1.00
R4984:Kcnh8	UTSW	17	53,184,995 (GRCm39)	missense	probably damaging	1.00
R5017:Kcnh8	UTSW	17	53,200,958 (GRCm39)	missense	probably damaging	1.00
R5214:Kcnh8	UTSW	17	53,205,486 (GRCm39)	missense	probably damaging	1.00
R5272:Kcnh8	UTSW	17	53,212,043 (GRCm39)	missense	probably damaging	0.97
R5386:Kcnh8	UTSW	17	53,033,023 (GRCm39)	missense	probably benign	0.10
R5472:Kcnh8	UTSW	17	53,284,844 (GRCm39)	missense	possibly damaging	0.71
R5500:Kcnh8	UTSW	17	53,033,008 (GRCm39)	missense	probably benign	0.00
R5714:Kcnh8	UTSW	17	53,285,150 (GRCm39)	missense	probably benign	0.31
R5866:Kcnh8	UTSW	17	53,263,804 (GRCm39)	missense	probably benign	0.05
R5903:Kcnh8	UTSW	17	53,110,364 (GRCm39)	missense	possibly damaging	0.87
R6969:Kcnh8	UTSW	17	53,184,971 (GRCm39)	nonsense	probably null
R6994:Kcnh8	UTSW	17	53,284,723 (GRCm39)	missense	probably benign	0.02
R7101:Kcnh8	UTSW	17	53,212,038 (GRCm39)	missense	probably damaging	1.00
R7189:Kcnh8	UTSW	17	53,201,145 (GRCm39)	splice site	probably null
R7228:Kcnh8	UTSW	17	53,263,744 (GRCm39)	missense	probably benign	0.01
R7372:Kcnh8	UTSW	17	53,201,129 (GRCm39)	missense	probably damaging	1.00
R7751:Kcnh8	UTSW	17	53,268,871 (GRCm39)	missense	probably damaging	1.00
R7819:Kcnh8	UTSW	17	53,263,743 (GRCm39)	missense	probably benign
R7952:Kcnh8	UTSW	17	53,266,493 (GRCm39)	missense	probably benign	0.02
R8176:Kcnh8	UTSW	17	53,285,122 (GRCm39)	missense	probably damaging	1.00
R8190:Kcnh8	UTSW	17	53,263,936 (GRCm39)	missense	probably damaging	1.00
R8407:Kcnh8	UTSW	17	53,212,101 (GRCm39)	missense	probably damaging	1.00
R8473:Kcnh8	UTSW	17	53,285,320 (GRCm39)	missense	probably benign
R8716:Kcnh8	UTSW	17	53,284,780 (GRCm39)	missense	probably benign	0.02
R8943:Kcnh8	UTSW	17	53,104,486 (GRCm39)	missense	probably benign	0.00
R9051:Kcnh8	UTSW	17	53,141,642 (GRCm39)	missense	probably damaging	1.00
R9211:Kcnh8	UTSW	17	53,146,236 (GRCm39)	missense	probably damaging	1.00
R9233:Kcnh8	UTSW	17	53,285,168 (GRCm39)	missense	probably damaging	1.00
R9243:Kcnh8	UTSW	17	53,205,542 (GRCm39)	missense	probably damaging	1.00
R9327:Kcnh8	UTSW	17	53,146,084 (GRCm39)	missense	probably damaging	0.99
R9640:Kcnh8	UTSW	17	53,185,089 (GRCm39)	missense	probably damaging	1.00
R9646:Kcnh8	UTSW	17	53,104,573 (GRCm39)	missense	probably benign	0.25
RF009:Kcnh8	UTSW	17	53,285,267 (GRCm39)	missense	probably benign	0.00
RF010:Kcnh8	UTSW	17	53,285,267 (GRCm39)	missense	probably benign	0.00
RF011:Kcnh8	UTSW	17	53,285,267 (GRCm39)	missense	probably benign	0.00
RF022:Kcnh8	UTSW	17	53,285,267 (GRCm39)	missense	probably benign	0.00
Z1088:Kcnh8	UTSW	17	53,285,320 (GRCm39)	missense	probably benign
Z1088:Kcnh8	UTSW	17	53,032,918 (GRCm39)	missense	probably damaging	1.00
Z1176:Kcnh8	UTSW	17	53,201,089 (GRCm39)	missense	probably damaging	0.98
Z1177:Kcnh8	UTSW	17	53,285,121 (GRCm39)	missense	possibly damaging	0.91
Z1177:Kcnh8	UTSW	17	53,110,499 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCAGTTCCTGAGGTGCATC -3'
(R):5'- AACTTTGCTCAGGCTCCAC -3'

Sequencing Primer
(F):5'- ACACTGACACCTTTGCAGTC -3'
(R):5'- TGCTCAGGCTCCACACCTG -3'

Posted On

2019-12-04