Mutagenetix > Incidental Mutations

Incidental Mutation 'R8068:Kcna10'

620094

Institutional Source

Beutler Lab

Gene Symbol

Kcna10

Ensembl Gene

ENSMUSG00000042861

Gene Name

potassium voltage-gated channel, shaker-related subfamily, member 10

Synonyms

Kcna8, Kv1.8

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R8068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107183056-107195721 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107194410 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 119 (M119R)

Ref Sequence

ENSEMBL: ENSMUSP00000088118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055064]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055064
AA Change: M119R

PolyPhen 2 Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088118
Gene: ENSMUSG00000042861
AA Change: M119R

Domain	Start	End	E-Value	Type
BTB	86	186	1.07e-6	SMART
Pfam:Ion_trans	215	468	3.4e-51	PFAM
Pfam:Ion_trans_2	376	461	6.2e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit significant vestibular and mild hearing dysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	A	8: 40,825,938	D455E	not run	Het
Aldoc	T	C	11: 78,324,727	F79S	possibly damaging	Het
Atmin	A	G	8: 116,956,650	S350G	probably benign	Het
Bms1	A	G	6: 118,413,750	F206S	probably damaging	Het
Carmil1	T	A	13: 24,075,728	I698L	probably benign	Het
Cd47	T	A	16: 49,895,416	S182T		Het
Ces2e	G	T	8: 104,932,997		probably null	Het
Cit	C	A	5: 115,952,466	H906Q	probably damaging	Het
Cit	T	C	5: 115,982,235	S1370P	probably benign	Het
Dchs2	T	C	3: 83,300,438	F1739L	probably benign	Het
Dlx4	T	C	11: 95,145,330	Y51C	possibly damaging	Het
Drosha	T	A	15: 12,883,190	Y796*	probably null	Het
Elf1	T	A	14: 79,536,390	F14I	probably benign	Het
Fam135b	T	C	15: 71,532,978	Q73R	probably damaging	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gls2	C	G	10: 128,195,114	R81G	unknown	Het
Hnrnpll	T	C	17: 80,050,852	M157V	possibly damaging	Het
Itgb3	T	A	11: 104,665,511	M726K	probably benign	Het
Kcnh1	A	G	1: 192,241,942	T155A	probably benign	Het
Kctd9	T	A	14: 67,724,662	D51E	unknown	Het
Lgr6	T	C	1: 135,063,664	I129V	probably benign	Het
Lrrfip1	A	T	1: 91,128,102	D598V	probably damaging	Het
Ltbp4	G	T	7: 27,324,168	Q850K	probably damaging	Het
Mdm1	A	G	10: 118,146,804	R115G	possibly damaging	Het
Mns1	A	C	9: 72,448,527		probably null	Het
Mthfs	G	A	9: 89,211,235	R14Q	probably damaging	Het
Muc2	T	A	7: 141,744,685	S25T		Het
Ncapd3	T	C	9: 27,063,361	S710P	possibly damaging	Het
Nrip1	T	A	16: 76,292,953	H572L	possibly damaging	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Olfr1020	A	G	2: 85,849,806	E118G	probably damaging	Het
Olfr1152	A	G	2: 87,868,651	Y220C	probably benign	Het
Olfr656	T	A	7: 104,618,253	C191*	probably null	Het
Opa3	A	G	7: 19,244,985	E125G	probably damaging	Het
P3h1	A	G	4: 119,236,862	Y238C	probably damaging	Het
Pappa2	T	C	1: 158,935,985	D652G	possibly damaging	Het
Pcdha11	T	A	18: 37,005,565	N82K	probably damaging	Het
Pde4b	T	C	4: 102,596,015	I293T	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Qk	T	C	17: 10,318,803	D24G	possibly damaging	Het
Rbpjl	A	G	2: 164,408,518	K197E	possibly damaging	Het
Rnf111	A	T	9: 70,457,941	S415T	probably benign	Het
Scyl1	A	G	19: 5,760,825	V488A	probably damaging	Het
Slc1a6	G	C	10: 78,812,872	V476L	possibly damaging	Het
Slc22a17	A	T	14: 54,908,908	F84I	probably benign	Het
Slc22a4	A	C	11: 53,997,443	I253S	possibly damaging	Het
Speer2	T	C	16: 69,860,524	H77R	possibly damaging	Het
Speg	T	C	1: 75,422,250	S2114P	probably damaging	Het
Synpo2	T	A	3: 123,117,392	R201S	possibly damaging	Het
Ttpa	C	A	4: 20,028,419	H225Q	probably damaging	Het
Vmn1r45	A	T	6: 89,933,279	H236Q	possibly damaging	Het
Vmn2r7	A	T	3: 64,716,086	V271D	probably benign	Het
Wdr66	A	G	5: 123,256,166	S373G	not run	Het
Zfp53	A	T	17: 21,509,012	T436S	probably benign	Het

Other mutations in Kcna10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Kcna10	APN	3	107194728	missense	probably damaging	1.00
IGL00481:Kcna10	APN	3	107195514	missense	probably benign
IGL00645:Kcna10	APN	3	107195465	missense	possibly damaging	0.95
IGL00974:Kcna10	APN	3	107195331	missense	probably damaging	1.00
IGL03108:Kcna10	APN	3	107194943	missense	probably benign	0.00
R0020:Kcna10	UTSW	3	107195420	missense	probably damaging	1.00
R0421:Kcna10	UTSW	3	107194504	missense	probably damaging	1.00
R0811:Kcna10	UTSW	3	107195259	missense	possibly damaging	0.89
R0812:Kcna10	UTSW	3	107195259	missense	possibly damaging	0.89
R2176:Kcna10	UTSW	3	107194716	missense	probably damaging	1.00
R4405:Kcna10	UTSW	3	107195465	missense	possibly damaging	0.95
R4668:Kcna10	UTSW	3	107194694	missense	possibly damaging	0.83
R4703:Kcna10	UTSW	3	107194610	missense	probably benign	0.22
R4719:Kcna10	UTSW	3	107194901	missense	probably benign
R4736:Kcna10	UTSW	3	107195492	missense	probably benign
R5227:Kcna10	UTSW	3	107194428	missense	probably damaging	1.00
R5564:Kcna10	UTSW	3	107194229	missense	probably benign
R5735:Kcna10	UTSW	3	107195078	missense	probably benign
R7418:Kcna10	UTSW	3	107195046	missense	probably benign	0.12
R7464:Kcna10	UTSW	3	107194079	missense	probably damaging	0.99
R7699:Kcna10	UTSW	3	107195540	missense	probably damaging	1.00
R7700:Kcna10	UTSW	3	107195540	missense	probably damaging	1.00
R7978:Kcna10	UTSW	3	107194347	missense	probably damaging	1.00
R8744:Kcna10	UTSW	3	107194386	missense	probably damaging	1.00
X0026:Kcna10	UTSW	3	107195157	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCTTCTCCAAGATCCCAG -3'
(R):5'- GAAAGTCATTGGTGGGCAGC -3'

Sequencing Primer
(F):5'- TTCTCCAAGATCCCAGGAGAGTATG -3'
(R):5'- GTCTCAGGGTCCTTAATGAAGCC -3'

Posted On

2020-01-23