Mutagenetix > Incidental Mutation

Incidental Mutation 'R6969:Kcnh8'

543414

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6969 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52602709-52979194 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 52877943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 418 (R418*)

Ref Sequence

ENSEMBL: ENSMUSP00000049206 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000039366
AA Change: R418*

SMART Domains

Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: R418*

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: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,981,335	L800H	unknown	Het
Ap2b1	T	A	11: 83,389,726	D788E	probably damaging	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Arhgap9	G	A	10: 127,326,643	E348K	probably benign	Het
B4galnt2	A	T	11: 95,891,930	F19I	probably benign	Het
Bdp1	A	T	13: 100,074,531	I551N	probably damaging	Het
Ceacam16	A	G	7: 19,852,305	*427Q	probably null	Het
Chd9	A	C	8: 90,978,914	Q260P	probably benign	Het
Col16a1	A	T	4: 130,093,087		probably benign	Het
Csmd1	A	T	8: 17,216,789	N40K	possibly damaging	Het
Depdc5	T	G	5: 32,983,860	V1368G	probably damaging	Het
Dnah7b	C	A	1: 46,358,238	P3943Q	probably damaging	Het
Dnttip2	A	G	3: 122,282,492	Q691R	probably damaging	Het
Dusp10	T	C	1: 184,068,888	L284P	probably damaging	Het
Efr3b	A	G	12: 3,968,624	V574A	probably benign	Het
Erc2	A	T	14: 27,898,596	I60F	probably damaging	Het
Exoc2	A	G	13: 30,911,178	V245A	probably benign	Het
Fasl	G	T	1: 161,781,675	F37L	probably damaging	Het
Fat3	G	A	9: 16,029,916	P1360S	probably benign	Het
Gm12666	A	G	4: 92,191,589	I54T	probably damaging	Het
Gpsm1	C	T	2: 26,340,543	P502S	probably benign	Het
Gtpbp10	C	A	5: 5,555,331	G124V	probably damaging	Het
Insm2	T	C	12: 55,600,178	C236R	probably damaging	Het
Irf2bpl	A	G	12: 86,882,694	Y402H	possibly damaging	Het
Irx6	A	G	8: 92,677,330	E175G	probably damaging	Het
Kif3c	G	A	12: 3,366,114	R45Q	probably benign	Het
Lpin1	A	G	12: 16,580,861	F12S	probably damaging	Het
Lrba	A	T	3: 86,619,590	T156S	probably benign	Het
Lrrc19	G	T	4: 94,639,373	N200K	probably benign	Het
Lrrc7	G	A	3: 158,156,913	H1296Y	probably benign	Het
Ltn1	A	T	16: 87,415,690	F661Y	probably damaging	Het
Macf1	T	C	4: 123,457,800	Y1893C	probably benign	Het
Mmd	G	C	11: 90,257,536	A15P	probably damaging	Het
Myh2	T	C	11: 67,197,266	F1903L	probably benign	Het
Myom3	T	C	4: 135,801,060	L1072P	probably damaging	Het
Olfr1350	G	A	7: 6,570,321	C110Y	probably damaging	Het
Olfr1402	A	T	3: 97,410,802	Y126*	probably null	Het
Olfr680-ps1	T	C	7: 105,091,256	I128V	probably benign	Het
Olfr855	A	T	9: 19,584,590	T18S	possibly damaging	Het
Patl2	A	T	2: 122,128,929	V18D	possibly damaging	Het
Pkn1	T	C	8: 83,683,426	S395G	probably damaging	Het
Ptprm	A	G	17: 66,912,418	I726T	possibly damaging	Het
Rab3gap2	T	C	1: 185,236,012	L187P	probably damaging	Het
Ric1	A	T	19: 29,585,782	E535V	probably damaging	Het
Ripor3	T	C	2: 167,985,737	K598R	probably benign	Het
Rnf40	A	G	7: 127,596,323	E607G	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Sbsn	A	G	7: 30,753,191	T544A	probably benign	Het
Scaf1	C	A	7: 45,007,829		probably benign	Het
Sec24a	T	C	11: 51,700,816	M1018V	probably benign	Het
Shmt1	C	T	11: 60,804,327	A54T	probably damaging	Het
Slc39a14	C	A	14: 70,308,826	V383F	probably damaging	Het
Slc5a2	A	G	7: 128,272,077	T346A	probably benign	Het
Slco4a1	G	A	2: 180,464,808	S261N	probably benign	Het
Smarcc1	C	G	9: 110,196,320	S688R	probably damaging	Het
Sppl2b	G	A	10: 80,865,125	A314T	probably damaging	Het
Sptb	A	T	12: 76,608,007	V1513E	probably damaging	Het
Stx17	A	T	4: 48,140,462	I56F	probably damaging	Het
Tbc1d9	A	G	8: 83,241,542	Y424C	probably damaging	Het
Tgm3	A	G	2: 130,042,029	K536E	probably benign	Het
Tti2	A	G	8: 31,154,301	I309V	possibly damaging	Het
Tymp	G	A	15: 89,374,048	S334L	probably benign	Het
Unc13b	T	C	4: 43,263,538	F1587L	possibly damaging	Het
Vgf	G	T	5: 137,031,653		probably benign	Het
Zfp59	T	C	7: 27,853,497	S125P	probably damaging	Het
Zfp641	A	T	15: 98,290,567	M144K	possibly damaging	Het
Zfp93	A	T	7: 24,275,381	K264*	probably null	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
R1982: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
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
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'- TGCCACCACCAATCACTTTG -3'
(R):5'- CATCTGGAGACTCAGTTCCC -3'

Sequencing Primer
(F):5'- ATAACCTGATCGTTCCTTTTTAACTC -3'
(R):5'- AGTTCCCTTTCTTGCTCCTGAAAAAG -3'

Posted On

2018-11-28