Mutagenetix > Incidental Mutations

Incidental Mutation 'R7847:Kcng4'

606687

Institutional Source

Beutler Lab

Gene Symbol

Kcng4

Ensembl Gene

ENSMUSG00000045246

Gene Name

potassium voltage-gated channel, subfamily G, member 4

Synonyms

KV6.4, 4921535I01Rik, KV6.3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119623854-119635680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119626142 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 343 (L343P)

Ref Sequence

ENSEMBL: ENSMUSP00000056552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061828] [ENSMUST00000164382]

Predicted Effect

probably damaging
Transcript: ENSMUST00000061828
AA Change: L343P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056552
Gene: ENSMUSG00000045246
AA Change: L343P

Domain	Start	End	E-Value	Type
BTB	58	168	7.13e-3	SMART
Pfam:Ion_trans	218	462	1.2e-40	PFAM
Pfam:Ion_trans_2	370	457	7e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164382
AA Change: L343P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129687
Gene: ENSMUSG00000045246
AA Change: L343P

Domain	Start	End	E-Value	Type
BTB	58	168	7.13e-3	SMART
Pfam:Ion_trans	262	451	6.6e-29	PFAM
Pfam:Ion_trans_2	371	457	1.7e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (45/45)

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 functions as a modulatory subunit. The gene has strong expression in brain. Multiple alternatively spliced variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,568,652	Y296N	probably benign	Het
Abcc4	T	C	14: 118,627,480	E378G	probably damaging	Het
Acp2	C	T	2: 91,210,732	H422Y	possibly damaging	Het
Aldoart1	C	T	4: 72,851,956	C205Y	probably damaging	Het
Alg9	T	C	9: 50,789,605	L225S	possibly damaging	Het
Anapc1	A	C	2: 128,669,908	V455G	possibly damaging	Het
Arhgef5	C	A	6: 43,275,135	S940*	probably null	Het
Asb15	C	A	6: 24,564,267	A240E	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,042,160		probably benign	Het
Ccdc17	A	G	4: 116,599,906	E529G	probably benign	Het
Cyp2b10	T	C	7: 25,897,760	S26P	possibly damaging	Het
Dcp1b	T	C	6: 119,215,295	S391P	probably benign	Het
Dock6	A	T	9: 21,801,207	L2086Q	unknown	Het
Ephx1	A	G	1: 181,001,861	S41P	probably benign	Het
Erbb3	G	A	10: 128,571,189	T1034M	probably damaging	Het
Gm17334	T	A	11: 53,772,738		probably benign	Het
Golgb1	A	G	16: 36,931,920	H3227R	probably damaging	Het
Grin2c	G	A	11: 115,260,978	P52L	possibly damaging	Het
Herc2	T	C	7: 56,157,560		probably null	Het
Il17rb	A	G	14: 29,996,806	Y440H	probably damaging	Het
Knl1	G	A	2: 119,070,976	E1053K	probably benign	Het
Lipo4	A	T	19: 33,514,199	V128E	possibly damaging	Het
Lmntd2	T	C	7: 141,210,150	N650D	probably benign	Het
Lrrfip2	T	C	9: 111,213,880	L460P	probably damaging	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Mtcl1	T	C	17: 66,344,333	Q1379R	probably damaging	Het
Mtfr2	G	A	10: 20,357,452	A256T	probably benign	Het
Mup17	T	A	4: 61,593,219	H159L	probably benign	Het
Ndufaf1	A	T	2: 119,660,053	D175E	probably damaging	Het
Nup210l	A	G	3: 90,151,123	M610V	probably benign	Het
Olfr1338	G	T	4: 118,754,368	H59N	possibly damaging	Het
Olfr1354	T	A	10: 78,916,896	S19T	probably benign	Het
Olfr955	A	G	9: 39,470,505	S74P	probably benign	Het
Pard3b	A	G	1: 62,343,934	D729G	probably benign	Het
Phactr1	T	C	13: 43,057,188	L169P	possibly damaging	Het
Rad54b	T	A	4: 11,612,655	S762R	probably damaging	Het
Senp5	C	T	16: 31,990,173	V88I	probably benign	Het
Specc1l	T	C	10: 75,309,836	V1105A	probably damaging	Het
Trak2	A	C	1: 58,935,818	S72A	possibly damaging	Het
Ttyh2	T	C	11: 114,675,674		probably null	Het
Ush2a	G	A	1: 188,430,808	C1029Y	probably damaging	Het
Vmn2r17	A	G	5: 109,420,197	Y62C	probably damaging	Het
Vmn2r41	A	G	7: 8,161,548	F2L	probably benign	Het
Xirp1	G	T	9: 120,019,753	D21E	possibly damaging	Het
Zfp114	C	A	7: 24,181,035	Q270K	possibly damaging	Het
Zfp341	T	C	2: 154,634,194	S441P	probably damaging	Het
Zfp780b	A	C	7: 27,964,418	H237Q	probably benign	Het

Other mutations in Kcng4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Kcng4	APN	8	119626331	missense	probably benign	0.00
IGL01360:Kcng4	APN	8	119625677	missense	probably benign	0.40
IGL02094:Kcng4	APN	8	119633221	missense	probably damaging	0.98
IGL02205:Kcng4	APN	8	119626083	missense	probably damaging	0.99
IGL02892:Kcng4	APN	8	119633082	missense	probably benign
IGL02927:Kcng4	APN	8	119626322	missense	probably benign
IGL02954:Kcng4	APN	8	119633053	missense	probably benign
IGL03143:Kcng4	APN	8	119625770	missense	probably damaging	1.00
FR4449:Kcng4	UTSW	8	119633519	nonsense	probably null
FR4548:Kcng4	UTSW	8	119633519	nonsense	probably null
FR4737:Kcng4	UTSW	8	119633519	nonsense	probably null
FR4976:Kcng4	UTSW	8	119633519	nonsense	probably null
LCD18:Kcng4	UTSW	8	119633519	nonsense	probably null
R0017:Kcng4	UTSW	8	119633520	missense	probably damaging	1.00
R1777:Kcng4	UTSW	8	119633487	missense	probably benign	0.02
R1852:Kcng4	UTSW	8	119626208	missense	probably benign	0.01
R1967:Kcng4	UTSW	8	119632923	missense	probably damaging	1.00
R3886:Kcng4	UTSW	8	119633247	missense	probably benign	0.34
R4009:Kcng4	UTSW	8	119626085	missense	probably damaging	1.00
R5137:Kcng4	UTSW	8	119625878	missense	possibly damaging	0.88
R5792:Kcng4	UTSW	8	119626279	missense	probably damaging	1.00
R5987:Kcng4	UTSW	8	119626359	missense	probably damaging	1.00
R6339:Kcng4	UTSW	8	119632954	missense	probably damaging	1.00
R6379:Kcng4	UTSW	8	119633620	nonsense	probably null
R6430:Kcng4	UTSW	8	119633050	missense	probably damaging	0.96
X0024:Kcng4	UTSW	8	119633367	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGTCGTCATGGAGATGATG -3'
(R):5'- AACAAATGTCAGTTCTTCCGCG -3'

Sequencing Primer
(F):5'- GATGCTAGTGAACTCCAGGACC -3'
(R):5'- GGGCCCCTGAATGTCATC -3'

Posted On

2019-12-20