Mutagenetix > Incidental Mutation

Incidental Mutation 'R4400:Kcnh8'

326608

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

041131-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4400 (G1)

Quality Score

217

Status

Not 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: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.3%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp4b	A	G	8: 13,438,810 (GRCm39)	F189L	probably damaging	Het
Atp8a1	A	T	5: 67,922,221 (GRCm39)	Y372N	probably benign	Het
Bves	T	C	10: 45,245,389 (GRCm39)	V354A	probably benign	Het
Cd79b	A	T	11: 106,202,836 (GRCm39)	Y195*	probably null	Het
Cog6	A	C	3: 52,920,362 (GRCm39)	D131E	probably benign	Het
Elp3	C	T	14: 65,785,539 (GRCm39)	E421K	possibly damaging	Het
Fbxw28	A	T	9: 109,157,378 (GRCm39)	F237Y	probably damaging	Het
Fezf1	T	C	6: 23,247,709 (GRCm39)	N122S	probably benign	Het
Galnt2	A	G	8: 125,051,042 (GRCm39)	K157E	probably damaging	Het
Git2	T	C	5: 114,871,970 (GRCm39)	E141G	possibly damaging	Het
Gm26888	T	C	11: 119,044,853 (GRCm39)		silent	Het
Gnrhr	T	C	5: 86,330,108 (GRCm39)		probably null	Het
Hoxd13	A	T	2: 74,500,359 (GRCm39)	D300V	probably damaging	Het
Hspg2	G	A	4: 137,275,433 (GRCm39)	A2748T	probably benign	Het
Hyal2	A	G	9: 107,448,052 (GRCm39)	N235S	probably damaging	Het
Itgam	T	G	7: 127,680,830 (GRCm39)	L253R	probably damaging	Het
Matr3	A	T	18: 35,716,969 (GRCm39)	K591N	possibly damaging	Het
Mep1a	T	A	17: 43,785,897 (GRCm39)	I731F	possibly damaging	Het
Mrtfa	G	A	15: 80,905,124 (GRCm39)	Q103*	probably null	Het
Muc5b	A	G	7: 141,415,124 (GRCm39)	D2690G	possibly damaging	Het
Nlrc5	A	G	8: 95,220,981 (GRCm39)	Q1140R	probably benign	Het
Or14c39	A	G	7: 86,343,798 (GRCm39)	I45V	probably benign	Het
Or5ac23	C	T	16: 59,148,961 (GRCm39)	V304I	probably benign	Het
Or6b6	A	G	7: 106,571,209 (GRCm39)	L114P	probably damaging	Het
Plcl1	T	C	1: 55,754,736 (GRCm39)	F1028L	probably damaging	Het
Plpp2	A	G	10: 79,363,327 (GRCm39)	V106A	possibly damaging	Het
Prpf8	A	G	11: 75,381,528 (GRCm39)	T255A	possibly damaging	Het
Shoc2	A	G	19: 54,019,660 (GRCm39)	I568V	probably benign	Het
Spopl	C	T	2: 23,407,957 (GRCm39)	V241M	probably damaging	Het
Ssrp1	A	T	2: 84,868,285 (GRCm39)	D9V	probably damaging	Het
Strn3	A	T	12: 51,694,883 (GRCm39)	D293E	possibly damaging	Het
Tbx3	G	T	5: 119,818,636 (GRCm39)	D404Y	probably damaging	Het
Tdrd7	T	C	4: 46,005,540 (GRCm39)	S416P	possibly damaging	Het
Trim60	G	T	8: 65,453,864 (GRCm39)	Y128*	probably null	Het
Tspoap1	T	C	11: 87,666,429 (GRCm39)	S947P	probably damaging	Het
Ttn	A	T	2: 76,612,739 (GRCm39)	S17113R	probably damaging	Het
Ubqln1	T	A	13: 58,341,202 (GRCm39)	N183I	probably damaging	Het
Ubr4	A	G	4: 139,189,167 (GRCm39)	N3917D	possibly damaging	Het
Ucp2	A	G	7: 100,148,557 (GRCm39)	*310W	probably null	Het
Wdr76	A	G	2: 121,359,314 (GRCm39)	M218V	probably damaging	Het
Zranb3	A	C	1: 127,884,392 (GRCm39)	L998R	possibly damaging	Het
Zxdc	G	A	6: 90,346,792 (GRCm39)	G51E	probably 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
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'- TGCCTGACTGAAGTTGTGTCTTAAAC -3'
(R):5'- CCATGTTCCCTGGAGAACTTC -3'

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

Posted On

2015-07-07