Mutagenetix > Incidental Mutation

Incidental Mutation 'R1804:Kcnh8'

203418

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

MMRRC Submission

039834-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1804 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

52909737-53286222 bp(+) (GRCm39)

Type of Mutation

small deletion (8 aa in frame mutation)

DNA Base Change (assembly)

GAGACCAACGAGCAGCTGATGCTTCAGA to GAGA at 53032934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

at position 74 (74)

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: 74

SMART Domains

Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: 74

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.5%
20x: 89.8%

Validation Efficiency

96% (77/80)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 183,765,400 (GRCm39)	Y220H	probably benign	Het
4930579C12Rik	T	C	9: 89,034,113 (GRCm39)		noncoding transcript	Het
Abcc8	T	C	7: 45,769,903 (GRCm39)	S871G	probably benign	Het
Acly	T	C	11: 100,406,731 (GRCm39)	Y288C	probably damaging	Het
Adgrb1	T	A	15: 74,401,389 (GRCm39)	D128E	probably damaging	Het
Alms1	C	T	6: 85,598,257 (GRCm39)	Q1497*	probably null	Het
Bltp2	A	G	11: 78,164,295 (GRCm39)	H1165R	probably damaging	Het
Cacna1c	G	A	6: 118,664,007 (GRCm39)	T688M	probably damaging	Het
Ccdc7a	A	T	8: 129,715,247 (GRCm39)	L279*	probably null	Het
Cep135	A	G	5: 76,784,779 (GRCm39)	E958G	probably benign	Het
Clec4n	G	T	6: 123,206,981 (GRCm39)	V2L	possibly damaging	Het
Col28a1	C	T	6: 8,164,612 (GRCm39)		probably null	Het
Dcaf5	A	G	12: 80,386,603 (GRCm39)	S508P	probably benign	Het
Dlgap2	C	A	8: 14,777,809 (GRCm39)	N351K	possibly damaging	Het
Dnah8	T	A	17: 30,927,381 (GRCm39)	Y1346N	probably benign	Het
Dqx1	T	C	6: 83,037,303 (GRCm39)	V322A	probably damaging	Het
Ebf3	A	C	7: 136,802,250 (GRCm39)	L412V	possibly damaging	Het
Epha5	T	C	5: 84,479,674 (GRCm39)	N110S	probably benign	Het
Fcgbp	T	C	7: 27,785,564 (GRCm39)	C334R	probably benign	Het
Glp1r	T	A	17: 31,149,687 (GRCm39)		probably null	Het
Gm4952	G	T	19: 12,595,784 (GRCm39)	R58L	probably damaging	Het
Gm7579	G	A	7: 141,765,675 (GRCm39)	C27Y	unknown	Het
Golm1	T	A	13: 59,790,203 (GRCm39)		probably null	Het
Gucy2g	T	A	19: 55,198,741 (GRCm39)	I801F	probably benign	Het
H2-D1	T	C	17: 35,482,528 (GRCm39)	Y83H	probably damaging	Het
Homez	A	T	14: 55,094,598 (GRCm39)	I19N	probably damaging	Het
Hoxa5	T	C	6: 52,179,628 (GRCm39)	K249R	probably damaging	Het
Hsd17b4	A	T	18: 50,311,051 (GRCm39)	N550Y	probably damaging	Het
Ipo4	A	T	14: 55,866,913 (GRCm39)	N668K	probably damaging	Het
Klb	A	G	5: 65,537,196 (GRCm39)	D842G	probably damaging	Het
Minar1	T	A	9: 89,485,152 (GRCm39)	M82L	possibly damaging	Het
Mmp21	G	T	7: 133,280,611 (GRCm39)	P120T	probably benign	Het
Mroh7	T	A	4: 106,551,589 (GRCm39)	I918F	possibly damaging	Het
Muc5b	A	G	7: 141,417,517 (GRCm39)	T3488A	possibly damaging	Het
Npc1	C	T	18: 12,356,145 (GRCm39)	C42Y	probably damaging	Het
Ogdh	A	G	11: 6,288,565 (GRCm39)	Y214C	probably damaging	Het
Or2q1	G	A	6: 42,795,155 (GRCm39)	C250Y	possibly damaging	Het
Or4k15c	A	T	14: 50,321,359 (GRCm39)	W260R	probably damaging	Het
Or4k35	T	C	2: 111,100,275 (GRCm39)	M146V	probably benign	Het
Or5al1	G	T	2: 85,990,417 (GRCm39)	T99N	probably benign	Het
Or8d23	A	G	9: 38,841,946 (GRCm39)	T160A	possibly damaging	Het
Phtf1	A	G	3: 103,894,883 (GRCm39)		probably benign	Het
Plb1	A	G	5: 32,511,041 (GRCm39)	N1302S	possibly damaging	Het
Prex2	A	G	1: 11,202,566 (GRCm39)	K492E	probably damaging	Het
Prkaa1	A	G	15: 5,208,259 (GRCm39)	D509G	probably benign	Het
Rims2	C	T	15: 39,300,439 (GRCm39)	Q57*	probably null	Het
Rnf40	T	C	7: 127,195,120 (GRCm39)	V411A	possibly damaging	Het
Rraga	A	G	4: 86,494,681 (GRCm39)	I176V	probably damaging	Het
Rrm2	T	C	12: 24,758,611 (GRCm39)	I51T	probably benign	Het
Serpina3a	T	A	12: 104,084,675 (GRCm39)		probably benign	Het
Skint7	T	C	4: 111,839,209 (GRCm39)	W168R	probably damaging	Het
Slc27a4	A	G	2: 29,701,279 (GRCm39)	M357V	probably benign	Het
Slc4a3	A	G	1: 75,528,361 (GRCm39)	H452R	probably damaging	Het
Smc1b	A	T	15: 85,011,991 (GRCm39)	I127K	possibly damaging	Het
Snap91	T	A	9: 86,665,470 (GRCm39)	M383L	probably benign	Het
Taf6l	A	T	19: 8,750,998 (GRCm39)	L52Q	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tas2r124	A	G	6: 132,732,488 (GRCm39)	I266V	probably benign	Het
Tesk2	T	C	4: 116,657,818 (GRCm39)		probably benign	Het
Tmem131l	T	G	3: 83,817,786 (GRCm39)	Q1237P	possibly damaging	Het
Tmem67	A	G	4: 12,045,789 (GRCm39)		probably null	Het
Tnfaip8	T	A	18: 50,223,728 (GRCm39)	C179S	probably damaging	Het
Ush2a	G	A	1: 188,365,926 (GRCm39)		probably null	Het
Vps13b	A	T	15: 35,917,283 (GRCm39)	E3709V	probably damaging	Het
Wdr7	A	T	18: 63,998,511 (GRCm39)	S1153C	probably damaging	Het
Zc2hc1b	A	C	10: 13,047,012 (GRCm39)		probably benign	Het
Zfp438	A	G	18: 5,213,689 (GRCm39)	I423T	probably damaging	Het
Zfp592	C	A	7: 80,673,443 (GRCm39)	P136T	probably damaging	Het
Zfp783	T	A	6: 47,922,819 (GRCm39)		noncoding transcript	Het
Zfp804b	A	T	5: 6,821,756 (GRCm39)	S400T	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
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
RF021: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'- CCTGACTGAAGTTGTGTCTTAAAC -3'
(R):5'- CATGTTCCCTGGAGAACTTCTC -3'

Sequencing Primer
(F):5'- GACTGAAGTTGTGTCTTAAACAAAAG -3'
(R):5'- CTTCTCCCAAACACTATAATTGAGTG -3'

Posted On

2014-06-23