Mutagenetix > Incidental Mutation

Incidental Mutation 'R1982:Kcnh8'

220037

Institutional Source

Beutler Lab

Gene Symbol

Kcnh8

Ensembl Gene

ENSMUSG00000035580

Gene Name

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

Synonyms

ELK1, C130090D05Rik, Kv12.1

MMRRC Submission

039994-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1982 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

52602709-52979194 bp(+) (GRCm38)

Type of Mutation

small deletion (8 aa in frame mutation)

DNA Base Change (assembly)

GAGACCAACGAGCAGCTGATGCTTCAGA to GAGA at 52725906 bp (GRCm38)

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	T	X: 89,931,445	V382E	probably damaging	Het
Aatk	G	T	11: 120,013,514	P252Q	probably damaging	Het
Adamts4	T	C	1: 171,258,934	V765A	probably benign	Het
Agfg2	A	T	5: 137,664,253	V184E	possibly damaging	Het
Alas1	A	T	9: 106,238,185	I48N	probably damaging	Het
Anks1	T	C	17: 27,985,121	V181A	probably damaging	Het
Anxa8	A	T	14: 34,096,570	R261S	probably damaging	Het
Aqp4	T	C	18: 15,393,551	D291G	probably damaging	Het
Atrn	A	G	2: 130,970,222	R696G	probably benign	Het
Barx2	A	C	9: 31,913,012	I27S	probably damaging	Het
Btnl1	A	T	17: 34,379,751	I114L	possibly damaging	Het
Casq1	C	T	1: 172,215,530	A200T	probably damaging	Het
Ccdc33	T	A	9: 58,117,168	E225D	probably benign	Het
Cd84	C	A	1: 171,884,585		probably null	Het
Ceacam9	T	G	7: 16,725,307	L177R	probably benign	Het
Cenpi	T	A	X: 134,318,033	F161L	possibly damaging	Het
Cep63	T	C	9: 102,602,880	K251E	probably damaging	Het
Cetn3	A	G	13: 81,784,697	E25G	probably damaging	Het
Crybg3	T	C	16: 59,544,125	D2378G	possibly damaging	Het
Ddx19b	T	C	8: 111,009,343	T357A	possibly damaging	Het
Dpep2	A	C	8: 105,989,455	Y266*	probably null	Het
Dqx1	G	A	6: 83,058,577	D24N	probably damaging	Het
Dsg4	A	T	18: 20,471,212	Y912F	probably damaging	Het
Fam71f2	A	G	6: 29,285,922	T69A	probably benign	Het
Fezf2	G	T	14: 12,344,405	P261T	probably benign	Het
Fmo1	T	C	1: 162,839,756	I163M	possibly damaging	Het
Gatad2a	G	A	8: 69,913,132	R428*	probably null	Het
Gfpt1	T	A	6: 87,054,630	F85I	possibly damaging	Het
Gimap7	A	T	6: 48,724,241	I254F	possibly damaging	Het
Glcci1	T	C	6: 8,592,980	S261P	probably damaging	Het
Glis3	A	T	19: 28,531,274	F437I	probably damaging	Het
Glp1r	C	A	17: 30,925,627	S258*	probably null	Het
Gm13023	C	A	4: 143,795,150	H445Q	probably benign	Het
Gm7030	T	A	17: 36,128,722	D122V	probably damaging	Het
Gpt2	C	T	8: 85,516,203	A288V	possibly damaging	Het
Grin2c	G	T	11: 115,260,905	S76R	possibly damaging	Het
Guf1	T	A	5: 69,567,226	Y447*	probably null	Het
Hectd1	A	C	12: 51,785,841	L916V	probably damaging	Het
Hnf4g	A	G	3: 3,638,208	K96E	probably damaging	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ifi207	T	G	1: 173,735,239	M114L	probably benign	Het
Ifi35	A	T	11: 101,458,286	E252V	probably damaging	Het
Igsf9b	G	A	9: 27,322,239	R345H	possibly damaging	Het
Itih3	T	C	14: 30,923,583		probably benign	Het
Kidins220	A	T	12: 25,051,194	M1252L	probably benign	Het
Kifap3	T	A	1: 163,862,022	L525*	probably null	Het
Limk2	A	T	11: 3,355,461	D35E	probably benign	Het
Lrrc37a	G	A	11: 103,498,966	P1878S	probably benign	Het
Mansc4	T	A	6: 147,075,675	I148F	probably benign	Het
Mei1	A	G	15: 82,103,312	N859S	probably benign	Het
Mib1	A	G	18: 10,812,064	D987G	probably damaging	Het
Mroh8	A	G	2: 157,271,975	V132A	possibly damaging	Het
Npnt	T	C	3: 132,948,132	I29M	probably benign	Het
Nrap	T	C	19: 56,384,105	D138G	probably damaging	Het
Olfr1	A	T	11: 73,395,092	I310N	probably benign	Het
Olfr5	T	C	7: 6,480,932	M75V	probably benign	Het
Olfr512	A	G	7: 108,713,695	Y102C	probably damaging	Het
Olfr91	T	A	17: 37,093,808	E22V	probably damaging	Het
Osbpl5	A	C	7: 143,741,671		probably null	Het
Pcna-ps2	T	C	19: 9,283,683	V102A	possibly damaging	Het
Pik3c2g	T	C	6: 139,622,548	S221P	probably damaging	Het
Plppr3	A	G	10: 79,866,425	I271T	probably damaging	Het
Prkar1b	C	T	5: 139,127,643	A41T	probably benign	Het
Prkcsh	A	G	9: 22,012,868	D458G	probably damaging	Het
Prr14	G	T	7: 127,475,490	R398L	possibly damaging	Het
Ptafr	A	G	4: 132,579,985	R229G	probably damaging	Het
Rbp3	T	C	14: 33,954,545	F150S	probably damaging	Het
Rel	C	T	11: 23,742,761	G424D	probably benign	Het
Rlf	T	C	4: 121,150,112	Y557C	probably damaging	Het
Samt3	A	C	X: 86,047,134	M211L	probably benign	Het
Selenop	A	T	15: 3,275,694	I111F	probably damaging	Het
Slc2a2	G	A	3: 28,717,441	M173I	probably benign	Het
Slc43a1	G	T	2: 84,856,889	G361V	possibly damaging	Het
Slit2	G	A	5: 48,249,836	V870M	probably damaging	Het
Ssxb10	A	G	X: 8,331,019	D77G	probably benign	Het
Stk32b	T	A	5: 37,649,114	I29F	probably damaging	Het
Stra6l	T	A	4: 45,867,237	C161*	probably null	Het
Tecpr2	T	A	12: 110,954,785	M1264K	probably benign	Het
Tfap2c	A	T	2: 172,557,236	I468F	probably damaging	Het
Ticam1	C	T	17: 56,271,555	R180H	probably damaging	Het
Tlr4	T	A	4: 66,841,035	N688K	probably benign	Het
Tmem35b	A	T	4: 127,126,053		probably benign	Het
Ugt2b34	T	C	5: 86,906,313	E203G	probably damaging	Het
Vegfa	A	C	17: 46,018,860	*393G	probably null	Het
Vmn2r16	T	C	5: 109,364,024	V699A	probably benign	Het
Zfp324	T	C	7: 12,971,218	S445P	probably damaging	Het
Zfp982	T	A	4: 147,512,592	C135*	probably null	Het
Zfp990	A	C	4: 145,536,869	N146H	probably damaging	Het
Zfyve26	A	G	12: 79,255,243	Y431H	possibly damaging	Het

Other mutations in Kcnh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Kcnh8	APN	17	52834680	missense	probably damaging	1.00
IGL01901:Kcnh8	APN	17	52894120	splice site	probably benign
IGL01959:Kcnh8	APN	17	52834607	missense	probably damaging	1.00
IGL02214:Kcnh8	APN	17	52877911	missense	possibly damaging	0.88
IGL02528:Kcnh8	APN	17	52803528	missense	probably damaging	1.00
IGL02620:Kcnh8	APN	17	52898497	missense	probably damaging	0.99
IGL02688:Kcnh8	APN	17	52959443	missense	probably benign	0.00
IGL02931:Kcnh8	APN	17	52956622	missense	probably benign	0.00
IGL02950:Kcnh8	APN	17	52956767	missense	probably benign	0.22
Incompetent	UTSW	17	52894101	missense	probably damaging	1.00
leak	UTSW	17	52725906	small deletion	probably benign
R0282:Kcnh8	UTSW	17	52725851	missense	probably damaging	1.00
R0448:Kcnh8	UTSW	17	52977620	splice site	probably null
R0496:Kcnh8	UTSW	17	52725858	missense	probably benign	0.19
R0601:Kcnh8	UTSW	17	52894005	missense	probably damaging	1.00
R0671:Kcnh8	UTSW	17	52978113	nonsense	probably null
R0891:Kcnh8	UTSW	17	52905214	missense	probably damaging	1.00
R0971:Kcnh8	UTSW	17	52725899	missense	probably benign	0.00
R1054:Kcnh8	UTSW	17	52803484	missense	probably damaging	1.00
R1237:Kcnh8	UTSW	17	52893960	missense	probably damaging	1.00
R1237:Kcnh8	UTSW	17	52893961	missense	probably damaging	1.00
R1565:Kcnh8	UTSW	17	52956881	missense	probably benign
R1657:Kcnh8	UTSW	17	52839125	missense	probably damaging	1.00
R1669:Kcnh8	UTSW	17	52893968	missense	probably damaging	1.00
R1786:Kcnh8	UTSW	17	52893933	missense	probably damaging	1.00
R1803:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R1804:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R1929:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R1980:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R1981:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2016:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2017:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2132:Kcnh8	UTSW	17	52893933	missense	probably damaging	1.00
R2133:Kcnh8	UTSW	17	52893933	missense	probably damaging	1.00
R2208:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2265:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2266:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2267:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2303:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2309:Kcnh8	UTSW	17	52978039	missense	probably damaging	1.00
R2760:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2764:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2857:Kcnh8	UTSW	17	52977933	missense	probably benign
R2898:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2987:Kcnh8	UTSW	17	52956735	missense	probably benign	0.05
R3031:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R3157:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R3158:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4080:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4081:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4082:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4087:Kcnh8	UTSW	17	52803400	missense	possibly damaging	0.93
R4132:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4158:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4213:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4301:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4302:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4383:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4385:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4400:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4490:Kcnh8	UTSW	17	52961877	critical splice donor site	probably null
R4493:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4494:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4611:Kcnh8	UTSW	17	52602836	missense	probably benign	0.22
R4728:Kcnh8	UTSW	17	52725870	missense	probably damaging	1.00
R4810:Kcnh8	UTSW	17	52905220	splice site	probably null
R4927:Kcnh8	UTSW	17	52877981	missense	probably damaging	1.00
R4984:Kcnh8	UTSW	17	52877967	missense	probably damaging	1.00
R5017:Kcnh8	UTSW	17	52893930	missense	probably damaging	1.00
R5214:Kcnh8	UTSW	17	52898458	missense	probably damaging	1.00
R5272:Kcnh8	UTSW	17	52905015	missense	probably damaging	0.97
R5386:Kcnh8	UTSW	17	52725995	missense	probably benign	0.10
R5472:Kcnh8	UTSW	17	52977816	missense	possibly damaging	0.71
R5500:Kcnh8	UTSW	17	52725980	missense	probably benign	0.00
R5714:Kcnh8	UTSW	17	52978122	missense	probably benign	0.31
R5866:Kcnh8	UTSW	17	52956776	missense	probably benign	0.05
R5903:Kcnh8	UTSW	17	52803336	missense	possibly damaging	0.87
R6969:Kcnh8	UTSW	17	52877943	nonsense	probably null
R6994:Kcnh8	UTSW	17	52977695	missense	probably benign	0.02
R7101:Kcnh8	UTSW	17	52905010	missense	probably damaging	1.00
R7189:Kcnh8	UTSW	17	52894117	splice site	probably null
R7228:Kcnh8	UTSW	17	52956716	missense	probably benign	0.01
R7372:Kcnh8	UTSW	17	52894101	missense	probably damaging	1.00
R7751:Kcnh8	UTSW	17	52961843	missense	probably damaging	1.00
R7819:Kcnh8	UTSW	17	52956715	missense	probably benign
R7952:Kcnh8	UTSW	17	52959465	missense	probably benign	0.02
R8176:Kcnh8	UTSW	17	52978094	missense	probably damaging	1.00
R8190:Kcnh8	UTSW	17	52956908	missense	probably damaging	1.00
R8407:Kcnh8	UTSW	17	52905073	missense	probably damaging	1.00
R8473:Kcnh8	UTSW	17	52978292	missense	probably benign
R8716:Kcnh8	UTSW	17	52977752	missense	probably benign	0.02
R8943:Kcnh8	UTSW	17	52797458	missense	probably benign	0.00
R9051:Kcnh8	UTSW	17	52834614	missense	probably damaging	1.00
R9211:Kcnh8	UTSW	17	52839208	missense	probably damaging	1.00
R9233:Kcnh8	UTSW	17	52978140	missense	probably damaging	1.00
R9243:Kcnh8	UTSW	17	52898514	missense	probably damaging	1.00
R9327:Kcnh8	UTSW	17	52839056	missense	probably damaging	0.99
R9640:Kcnh8	UTSW	17	52878061	missense	probably damaging	1.00
R9646:Kcnh8	UTSW	17	52797545	missense	probably benign	0.25
RF009:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
RF010:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
RF011:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
RF021:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
RF022:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
Z1088:Kcnh8	UTSW	17	52725890	missense	probably damaging	1.00
Z1088:Kcnh8	UTSW	17	52978292	missense	probably benign
Z1176:Kcnh8	UTSW	17	52894061	missense	probably damaging	0.98
Z1177:Kcnh8	UTSW	17	52803471	missense	probably damaging	1.00
Z1177:Kcnh8	UTSW	17	52978093	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CCTGACTGAAGTTGTGTCTTAAAC -3'
(R):5'- TTCCATGTTCCCTGGAGAAC -3'

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

Posted On

2014-08-25