Mutagenetix > Incidental Mutations

Incidental Mutation 'R0034:Kcng3'

212441

Institutional Source

Beutler Lab

Gene Symbol

Kcng3

Ensembl Gene

ENSMUSG00000045053

Gene Name

potassium voltage-gated channel, subfamily G, member 3

Synonyms

Kv10.1a, Kv10.1b, KV6.3

MMRRC Submission

038328-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R0034 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

83585957-83631895 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 83588383 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000054910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051482]

Predicted Effect

probably benign
Transcript: ENSMUST00000051482

SMART Domains

Protein: ENSMUSP00000054910
Gene: ENSMUSG00000045053

Domain	Start	End	E-Value	Type
BTB	9	119	5.2e-5	SMART
Pfam:Ion_trans	167	417	4.6e-42	PFAM
Pfam:Ion_trans_2	321	411	4.3e-13	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

98% (64/65)

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 G. This member is a gamma subunit functioning as a modulatory molecule. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	C	A	19: 7,420,359	H90Q	probably damaging	Het
4930402H24Rik	T	C	2: 130,736,572	H664R	probably damaging	Het
9430038I01Rik	C	T	7: 137,387,592	R60Q	probably benign	Het
Angpt4	C	T	2: 151,929,391	T209I	probably benign	Het
Ap3b1	T	C	13: 94,479,885		probably benign	Het
Aplp1	A	C	7: 30,444,442	V56G	probably damaging	Het
Asns	G	A	6: 7,676,299	P419L	probably damaging	Het
Atxn7	A	T	14: 14,100,846	H844L	probably damaging	Het
Cd14	A	G	18: 36,726,235	Y56H	probably benign	Het
Cd300lb	C	T	11: 114,928,399	V135I	probably damaging	Het
Cep152	C	T	2: 125,583,893	A851T	probably benign	Het
Cfap74	C	T	4: 155,460,887		probably benign	Het
Col28a1	T	A	6: 8,175,708	I47L	probably benign	Het
Eef1d	T	C	15: 75,902,959	T200A	probably benign	Het
Faap100	A	T	11: 120,372,147	M795K	probably benign	Het
Gabpb1	C	T	2: 126,658,534	R15Q	possibly damaging	Het
Gata4	C	A	14: 63,201,484	M381I	probably benign	Het
Gm5114	A	G	7: 39,408,858	S446P	possibly damaging	Het
Gm7271	A	G	5: 76,516,530	I155M	probably damaging	Het
Gnb1	T	A	4: 155,551,689	N155K	probably benign	Het
Haspin	G	A	11: 73,138,218	T15M	probably damaging	Het
Heatr5a	A	G	12: 51,925,172	L745P	probably damaging	Het
Kif15	A	T	9: 122,999,285	N887I	possibly damaging	Het
Kif26a	T	C	12: 112,168,963		probably benign	Het
Kif9	G	A	9: 110,519,611	C738Y	probably benign	Het
Kifc2	G	T	15: 76,667,100	C613F	probably benign	Het
Klf12	A	G	14: 99,987,429		probably null	Het
Lrp1	A	T	10: 127,545,651	I3826N	probably benign	Het
Map2k4	A	G	11: 65,719,611		probably benign	Het
Myo7b	A	G	18: 31,960,860	S2006P	probably damaging	Het
Olfr631	T	C	7: 103,929,501	V226A	probably benign	Het
Pax4	T	C	6: 28,442,449	T285A	probably benign	Het
Pcdhb5	A	G	18: 37,322,084	N506D	probably damaging	Het
Pkhd1l1	G	A	15: 44,504,009	G768S	probably benign	Het
Plb1	G	T	5: 32,273,113	G138V	probably benign	Het
Poln	A	C	5: 34,115,418	V398G	possibly damaging	Het
Poteg	A	G	8: 27,462,077		probably benign	Het
Rapgef1	C	A	2: 29,724,768		probably benign	Het
Rbm43	A	T	2: 51,925,710	D166E	probably benign	Het
Rhobtb2	T	C	14: 69,788,688	T602A	probably benign	Het
Samd3	G	A	10: 26,271,500		probably benign	Het
Sbno2	A	C	10: 80,058,340		probably benign	Het
Sec1	A	G	7: 45,679,335	V96A	probably benign	Het
Senp7	A	C	16: 56,153,570	S385R	possibly damaging	Het
Sgk3	T	C	1: 9,885,677	V301A	probably damaging	Het
Sgpl1	A	T	10: 61,102,613	M467K	probably damaging	Het
Slc22a26	A	G	19: 7,802,253	I66T	probably benign	Het
Stra6	G	A	9: 58,151,469		probably null	Het
Tfrc	T	A	16: 32,615,396		probably null	Het
Tmem30b	T	C	12: 73,546,005	Y112C	probably damaging	Het
Trap1	A	T	16: 4,069,030		probably benign	Het
Trpc1	A	G	9: 95,749,761	S43P	probably damaging	Het
Tsku	T	C	7: 98,352,663	T154A	possibly damaging	Het
Uroc1	T	C	6: 90,345,310	V272A	probably damaging	Het
Vmn1r69	T	A	7: 10,580,811		probably benign	Het
Vmn2r1	T	A	3: 64,090,014	W364R	probably damaging	Het
Wnk2	G	T	13: 49,068,080	T377K	possibly damaging	Het
Zscan20	T	C	4: 128,585,662	N1012S	probably damaging	Het

Other mutations in Kcng3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Kcng3	APN	17	83587850	missense	probably damaging	1.00
PIT4403001:Kcng3	UTSW	17	83588182	missense	probably damaging	1.00
R0056:Kcng3	UTSW	17	83587756	missense	probably damaging	0.98
R0335:Kcng3	UTSW	17	83587737	missense	possibly damaging	0.51
R1224:Kcng3	UTSW	17	83631395	missense	probably damaging	1.00
R1462:Kcng3	UTSW	17	83631063	missense	probably damaging	0.96
R1601:Kcng3	UTSW	17	83588339	missense	probably damaging	1.00
R3147:Kcng3	UTSW	17	83588320	missense	possibly damaging	0.71
R4854:Kcng3	UTSW	17	83588306	missense	probably damaging	0.97
R5408:Kcng3	UTSW	17	83631005	missense	probably benign	0.12
R5719:Kcng3	UTSW	17	83631134	missense	possibly damaging	0.71
R5791:Kcng3	UTSW	17	83588210	missense	probably benign	0.02
R6155:Kcng3	UTSW	17	83588378	missense	probably benign
R6437:Kcng3	UTSW	17	83631129	missense	probably damaging	1.00
R8139:Kcng3	UTSW	17	83631087	missense	probably damaging	1.00
R8279:Kcng3	UTSW	17	83587825	missense	probably damaging	1.00
R8325:Kcng3	UTSW	17	83631578	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TTGAGAGTCAAGCCCAGTGTCTGC -3'
(R):5'- ACATGAGTCCTTATTGTCCCGTTGC -3'

Sequencing Primer
(F):5'- AGATCCGCATCATTCGGAG -3'
(R):5'- ATTGTCCCGTTGCGTCCTG -3'

Posted On

2014-07-02