Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02931:Kcnh8'

364082

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnh8

Ensembl Gene

ENSMUSG00000035580

Gene Name

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

Synonyms

ELK1, C130090D05Rik, Kv12.1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02931

Quality Score

Status

Chromosome

Chromosomal Location

52602709-52979194 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52956622 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 716 (E716K)

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: E716K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: E716K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184279

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,079,012 (GRCm38)	R254Q	probably benign	Het
Adgrv1	T	C	13: 81,579,714 (GRCm38)	Y269C	probably damaging	Het
Apol7a	C	A	15: 77,393,450 (GRCm38)	E33*	probably null	Het
Arhgap29	T	C	3: 121,992,860 (GRCm38)	V358A	probably benign	Het
B3galt1	T	C	2: 68,118,384 (GRCm38)	S148P	probably damaging	Het
BC061237	A	G	14: 44,503,322 (GRCm38)	N60D	possibly damaging	Het
Bcl9l	C	T	9: 44,500,750 (GRCm38)	P11L	probably damaging	Het
Ccdc89	A	C	7: 90,426,902 (GRCm38)	K107Q	probably benign	Het
Col27a1	T	C	4: 63,331,426 (GRCm38)		probably benign	Het
Col5a2	T	C	1: 45,385,065 (GRCm38)	D1067G	probably damaging	Het
Col9a2	A	T	4: 121,053,192 (GRCm38)	R511S	probably benign	Het
Disp3	G	A	4: 148,249,201 (GRCm38)	S1060F	possibly damaging	Het
Dusp8	T	C	7: 142,082,930 (GRCm38)	T308A	probably benign	Het
Ern1	T	C	11: 106,423,440 (GRCm38)	N178S	probably damaging	Het
Gas6	C	A	8: 13,477,136 (GRCm38)	C204F	probably damaging	Het
Gga1	T	C	15: 78,893,322 (GRCm38)	S558P	possibly damaging	Het
Gli1	T	C	10: 127,332,410 (GRCm38)	T525A	probably benign	Het
Gm428	G	A	4: 73,687,365 (GRCm38)	A338T	probably damaging	Het
Gse1	A	G	8: 120,578,069 (GRCm38)		probably benign	Het
Hmcn1	G	A	1: 150,657,207 (GRCm38)	S3075L	probably benign	Het
Hnf4a	G	A	2: 163,566,117 (GRCm38)		probably benign	Het
Htt	A	T	5: 34,876,753 (GRCm38)	E1894D	probably damaging	Het
Kntc1	A	G	5: 123,799,811 (GRCm38)	Y1524C	probably damaging	Het
Krtap9-5	A	G	11: 99,949,105 (GRCm38)	T211A	unknown	Het
Lin54	T	C	5: 100,480,321 (GRCm38)	I8V	possibly damaging	Het
Lipe	A	G	7: 25,383,335 (GRCm38)		probably benign	Het
Lpin2	T	A	17: 71,238,683 (GRCm38)	V508E	probably damaging	Het
Lrrc9	C	A	12: 72,454,149 (GRCm38)	H216Q	probably damaging	Het
Lrrn1	T	C	6: 107,567,748 (GRCm38)	L169P	probably damaging	Het
Map9	C	A	3: 82,377,121 (GRCm38)	T334K	possibly damaging	Het
Mst1	A	T	9: 108,084,642 (GRCm38)		probably null	Het
Mtor	T	A	4: 148,464,964 (GRCm38)	F602I	probably benign	Het
Mylpf	T	A	7: 127,213,626 (GRCm38)	D98E	probably benign	Het
Naca	C	A	10: 128,047,682 (GRCm38)	Q2059K	probably damaging	Het
Nefh	G	A	11: 4,941,356 (GRCm38)	T421I	possibly damaging	Het
Nlrp4g	T	A	9: 124,348,940 (GRCm38)		noncoding transcript	Het
Npat	C	T	9: 53,571,041 (GRCm38)	Q1350*	probably null	Het
Oaz3	T	C	3: 94,434,980 (GRCm38)	N123S	probably benign	Het
Patj	A	G	4: 98,411,173 (GRCm38)		probably benign	Het
Piezo1	A	C	8: 122,483,519 (GRCm38)	D2224E	probably damaging	Het
Pnpla7	A	T	2: 25,015,229 (GRCm38)	I610F	possibly damaging	Het
Psapl1	A	T	5: 36,204,889 (GRCm38)	D275V	probably damaging	Het
Ptpdc1	T	A	13: 48,590,619 (GRCm38)		probably benign	Het
Rac2	T	C	15: 78,570,747 (GRCm38)	E31G	possibly damaging	Het
Sdhc	T	C	1: 171,143,555 (GRCm38)		probably benign	Het
Smim23	G	T	11: 32,820,667 (GRCm38)	P80T	probably damaging	Het
Snupn	C	T	9: 56,957,080 (GRCm38)	T21I	probably benign	Het
Tjp2	A	G	19: 24,096,632 (GRCm38)	V1097A	probably benign	Het
Tmem8	T	A	17: 26,117,949 (GRCm38)	F280L	probably benign	Het
Ttc16	A	G	2: 32,771,927 (GRCm38)	Y164H	probably damaging	Het
Txlnb	A	G	10: 17,827,982 (GRCm38)	E296G	probably damaging	Het
Ube2l6	G	A	2: 84,802,851 (GRCm38)	V34M	probably damaging	Het
Vwf	A	C	6: 125,615,968 (GRCm38)	S764R	possibly damaging	Het
Zfand3	A	G	17: 30,192,637 (GRCm38)	S146G	probably benign	Het
Zfp280d	T	G	9: 72,296,025 (GRCm38)	F18L	probably benign	Het

Other mutations in Kcnh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Kcnh8	APN	17	52,834,680 (GRCm38)	missense	probably damaging	1.00
IGL01901:Kcnh8	APN	17	52,894,120 (GRCm38)	splice site	probably benign
IGL01959:Kcnh8	APN	17	52,834,607 (GRCm38)	missense	probably damaging	1.00
IGL02214:Kcnh8	APN	17	52,877,911 (GRCm38)	missense	possibly damaging	0.88
IGL02528:Kcnh8	APN	17	52,803,528 (GRCm38)	missense	probably damaging	1.00
IGL02620:Kcnh8	APN	17	52,898,497 (GRCm38)	missense	probably damaging	0.99
IGL02688:Kcnh8	APN	17	52,959,443 (GRCm38)	missense	probably benign	0.00
IGL02950:Kcnh8	APN	17	52,956,767 (GRCm38)	missense	probably benign	0.22
Incompetent	UTSW	17	52,894,101 (GRCm38)	missense	probably damaging	1.00
leak	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R0282:Kcnh8	UTSW	17	52,725,851 (GRCm38)	missense	probably damaging	1.00
R0448:Kcnh8	UTSW	17	52,977,620 (GRCm38)	splice site	probably null
R0496:Kcnh8	UTSW	17	52,725,858 (GRCm38)	missense	probably benign	0.19
R0601:Kcnh8	UTSW	17	52,894,005 (GRCm38)	missense	probably damaging	1.00
R0671:Kcnh8	UTSW	17	52,978,113 (GRCm38)	nonsense	probably null
R0891:Kcnh8	UTSW	17	52,905,214 (GRCm38)	missense	probably damaging	1.00
R0971:Kcnh8	UTSW	17	52,725,899 (GRCm38)	missense	probably benign	0.00
R1054:Kcnh8	UTSW	17	52,803,484 (GRCm38)	missense	probably damaging	1.00
R1237:Kcnh8	UTSW	17	52,893,961 (GRCm38)	missense	probably damaging	1.00
R1237:Kcnh8	UTSW	17	52,893,960 (GRCm38)	missense	probably damaging	1.00
R1565:Kcnh8	UTSW	17	52,956,881 (GRCm38)	missense	probably benign
R1657:Kcnh8	UTSW	17	52,839,125 (GRCm38)	missense	probably damaging	1.00
R1669:Kcnh8	UTSW	17	52,893,968 (GRCm38)	missense	probably damaging	1.00
R1786:Kcnh8	UTSW	17	52,893,933 (GRCm38)	missense	probably damaging	1.00
R1803:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R1804:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R1929:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R1980:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R1981:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R1982:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2016:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2017:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2132:Kcnh8	UTSW	17	52,893,933 (GRCm38)	missense	probably damaging	1.00
R2133:Kcnh8	UTSW	17	52,893,933 (GRCm38)	missense	probably damaging	1.00
R2208:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2265:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2266:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2267:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2303:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2309:Kcnh8	UTSW	17	52,978,039 (GRCm38)	missense	probably damaging	1.00
R2760:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2764:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2857:Kcnh8	UTSW	17	52,977,933 (GRCm38)	missense	probably benign
R2898:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2987:Kcnh8	UTSW	17	52,956,735 (GRCm38)	missense	probably benign	0.05
R3031:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R3157:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R3158:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4080:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4081:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4082:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4087:Kcnh8	UTSW	17	52,803,400 (GRCm38)	missense	possibly damaging	0.93
R4132:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4158:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4213:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4301:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4302:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4383:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4385:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4400:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4490:Kcnh8	UTSW	17	52,961,877 (GRCm38)	critical splice donor site	probably null
R4493:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4494:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4611:Kcnh8	UTSW	17	52,602,836 (GRCm38)	missense	probably benign	0.22
R4728:Kcnh8	UTSW	17	52,725,870 (GRCm38)	missense	probably damaging	1.00
R4810:Kcnh8	UTSW	17	52,905,220 (GRCm38)	splice site	probably null
R4927:Kcnh8	UTSW	17	52,877,981 (GRCm38)	missense	probably damaging	1.00
R4984:Kcnh8	UTSW	17	52,877,967 (GRCm38)	missense	probably damaging	1.00
R5017:Kcnh8	UTSW	17	52,893,930 (GRCm38)	missense	probably damaging	1.00
R5214:Kcnh8	UTSW	17	52,898,458 (GRCm38)	missense	probably damaging	1.00
R5272:Kcnh8	UTSW	17	52,905,015 (GRCm38)	missense	probably damaging	0.97
R5386:Kcnh8	UTSW	17	52,725,995 (GRCm38)	missense	probably benign	0.10
R5472:Kcnh8	UTSW	17	52,977,816 (GRCm38)	missense	possibly damaging	0.71
R5500:Kcnh8	UTSW	17	52,725,980 (GRCm38)	missense	probably benign	0.00
R5714:Kcnh8	UTSW	17	52,978,122 (GRCm38)	missense	probably benign	0.31
R5866:Kcnh8	UTSW	17	52,956,776 (GRCm38)	missense	probably benign	0.05
R5903:Kcnh8	UTSW	17	52,803,336 (GRCm38)	missense	possibly damaging	0.87
R6969:Kcnh8	UTSW	17	52,877,943 (GRCm38)	nonsense	probably null
R6994:Kcnh8	UTSW	17	52,977,695 (GRCm38)	missense	probably benign	0.02
R7101:Kcnh8	UTSW	17	52,905,010 (GRCm38)	missense	probably damaging	1.00
R7189:Kcnh8	UTSW	17	52,894,117 (GRCm38)	splice site	probably null
R7228:Kcnh8	UTSW	17	52,956,716 (GRCm38)	missense	probably benign	0.01
R7372:Kcnh8	UTSW	17	52,894,101 (GRCm38)	missense	probably damaging	1.00
R7751:Kcnh8	UTSW	17	52,961,843 (GRCm38)	missense	probably damaging	1.00
R7819:Kcnh8	UTSW	17	52,956,715 (GRCm38)	missense	probably benign
R7952:Kcnh8	UTSW	17	52,959,465 (GRCm38)	missense	probably benign	0.02
R8176:Kcnh8	UTSW	17	52,978,094 (GRCm38)	missense	probably damaging	1.00
R8190:Kcnh8	UTSW	17	52,956,908 (GRCm38)	missense	probably damaging	1.00
R8407:Kcnh8	UTSW	17	52,905,073 (GRCm38)	missense	probably damaging	1.00
R8473:Kcnh8	UTSW	17	52,978,292 (GRCm38)	missense	probably benign
R8716:Kcnh8	UTSW	17	52,977,752 (GRCm38)	missense	probably benign	0.02
R8943:Kcnh8	UTSW	17	52,797,458 (GRCm38)	missense	probably benign	0.00
R9051:Kcnh8	UTSW	17	52,834,614 (GRCm38)	missense	probably damaging	1.00
R9211:Kcnh8	UTSW	17	52,839,208 (GRCm38)	missense	probably damaging	1.00
R9233:Kcnh8	UTSW	17	52,978,140 (GRCm38)	missense	probably damaging	1.00
R9243:Kcnh8	UTSW	17	52,898,514 (GRCm38)	missense	probably damaging	1.00
R9327:Kcnh8	UTSW	17	52,839,056 (GRCm38)	missense	probably damaging	0.99
R9640:Kcnh8	UTSW	17	52,878,061 (GRCm38)	missense	probably damaging	1.00
R9646:Kcnh8	UTSW	17	52,797,545 (GRCm38)	missense	probably benign	0.25
RF009:Kcnh8	UTSW	17	52,978,239 (GRCm38)	missense	probably benign	0.00
RF010:Kcnh8	UTSW	17	52,978,239 (GRCm38)	missense	probably benign	0.00
RF011:Kcnh8	UTSW	17	52,978,239 (GRCm38)	missense	probably benign	0.00
RF021:Kcnh8	UTSW	17	52,978,239 (GRCm38)	missense	probably benign	0.00
RF022:Kcnh8	UTSW	17	52,978,239 (GRCm38)	missense	probably benign	0.00
Z1088:Kcnh8	UTSW	17	52,978,292 (GRCm38)	missense	probably benign
Z1088:Kcnh8	UTSW	17	52,725,890 (GRCm38)	missense	probably damaging	1.00
Z1176:Kcnh8	UTSW	17	52,894,061 (GRCm38)	missense	probably damaging	0.98
Z1177:Kcnh8	UTSW	17	52,978,093 (GRCm38)	missense	possibly damaging	0.91
Z1177:Kcnh8	UTSW	17	52,803,471 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-12-18