Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4403001:Kcng3'

555502

Institutional Source

Beutler Lab

Gene Symbol

Kcng3

Ensembl Gene

ENSMUSG00000045053

Gene Name

potassium voltage-gated channel, subfamily G, member 3

Synonyms

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.368) question?

Stock #

PIT4403001 (G1)

Quality Score

142.008

Status

Not validated

Chromosome

Chromosomal Location

83893386-83939324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83895611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 285 (L285S)

Ref Sequence

ENSEMBL: ENSMUSP00000054910 (fasta)

Gene Model

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

AlphaFold

P59053

Predicted Effect

probably damaging
Transcript: ENSMUST00000051482
AA Change: L285S

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

SMART Domains

Protein: ENSMUSP00000054910
Gene: ENSMUSG00000045053
AA Change: L285S

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

Coding Region Coverage

1x: 92.7%
3x: 90.5%
10x: 84.9%
20x: 73.1%

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 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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh4	T	C	3: 138,129,939 (GRCm39)	V255A	probably damaging	Het
Ahnak	T	C	19: 8,983,540 (GRCm39)	I1608T	possibly damaging	Het
Atm	A	T	9: 53,412,282 (GRCm39)	D955E	probably benign	Het
Cacybp	A	G	1: 160,033,764 (GRCm39)	S113P	probably damaging	Het
Cenpu	C	T	8: 47,015,564 (GRCm39)	P160S	possibly damaging	Het
Clstn3	C	T	6: 124,434,982 (GRCm39)	G348D	probably damaging	Het
Cmtr1	T	G	17: 29,917,047 (GRCm39)		probably null	Het
Dlgap2	T	C	8: 14,881,528 (GRCm39)	S867P	probably damaging	Het
Fbn1	A	T	2: 125,184,831 (GRCm39)	C1654S	probably damaging	Het
Fbxl3	G	A	14: 103,332,900 (GRCm39)	T26M	possibly damaging	Het
Garnl3	A	T	2: 32,880,770 (GRCm39)	L874Q	probably damaging	Het
Gcm2	A	G	13: 41,256,315 (GRCm39)	V478A	probably benign	Het
Gm1527	T	C	3: 28,972,134 (GRCm39)	I417T	possibly damaging	Het
Grip1	A	G	10: 119,765,833 (GRCm39)	E55G	probably damaging	Het
Ighv1-4	A	G	12: 114,450,824 (GRCm39)	S95P	probably damaging	Het
Jak3	C	T	8: 72,136,993 (GRCm39)	T723I	probably benign	Het
Jup	A	G	11: 100,268,913 (GRCm39)		probably null	Het
Kmt2b	G	A	7: 30,285,114 (GRCm39)	P593S	probably damaging	Het
Matcap1	T	C	8: 106,011,376 (GRCm39)	N253D	probably benign	Het
Mstn	T	C	1: 53,100,944 (GRCm39)	M7T	probably benign	Het
Myh2	A	T	11: 67,077,533 (GRCm39)	K889N	probably benign	Het
Myo5a	A	G	9: 75,124,805 (GRCm39)	T1787A	probably damaging	Het
Nlrp14	A	T	7: 106,784,099 (GRCm39)	Q607L	possibly damaging	Het
Ntf3	C	T	6: 126,078,789 (GRCm39)	R239Q	probably damaging	Het
Nup85	G	T	11: 115,472,646 (GRCm39)	R492L	probably damaging	Het
Ogfod3	A	C	11: 121,087,561 (GRCm39)		probably null	Het
Or1j18	T	A	2: 36,624,930 (GRCm39)	I199K	probably damaging	Het
Or4c115	T	A	2: 88,927,420 (GRCm39)	M284L	probably benign	Het
Or4k40	A	T	2: 111,251,165 (GRCm39)	F44I	probably benign	Het
Or52h2	A	G	7: 103,838,667 (GRCm39)	V249A	probably benign	Het
Or8d1	T	C	9: 38,766,676 (GRCm39)	I106T	probably benign	Het
Oxct2a	A	T	4: 123,216,237 (GRCm39)	D381E	probably damaging	Het
Pcdh20	G	C	14: 88,704,462 (GRCm39)	P946R	probably damaging	Het
Pdgfc	C	T	3: 81,082,268 (GRCm39)	P154S	probably damaging	Het
Phkg1	T	C	5: 129,894,772 (GRCm39)	T260A	probably benign	Het
Pld4	T	G	12: 112,734,256 (GRCm39)	L374R	probably damaging	Het
Plekhj1	C	T	10: 80,632,293 (GRCm39)	D150N	unknown	Het
Plppr1	T	G	4: 49,337,648 (GRCm39)	N316K	probably benign	Het
Pola2	A	C	19: 6,009,074 (GRCm39)	S95A	possibly damaging	Het
Polq	G	A	16: 36,880,949 (GRCm39)	D1038N	probably benign	Het
Prim1	A	T	10: 127,858,745 (GRCm39)	I218L	probably benign	Het
Prkcz	A	G	4: 155,377,613 (GRCm39)		probably null	Het
Ptgr1	T	C	4: 58,968,794 (GRCm39)	K282E	probably benign	Het
Rbm5	A	G	9: 107,637,535 (GRCm39)	M132T	probably damaging	Het
Scn2a	C	T	2: 65,542,252 (GRCm39)	T785M	probably damaging	Het
Setx	A	G	2: 29,023,967 (GRCm39)	E141G	probably damaging	Het
Slc24a2	A	G	4: 86,950,523 (GRCm39)	F425L	probably benign	Het
Smarcc2	A	T	10: 128,298,893 (GRCm39)	H92L	probably damaging	Het
Tatdn1	C	G	15: 58,777,596 (GRCm39)	E220Q	probably damaging	Het
Tmc7	C	A	7: 118,146,623 (GRCm39)	Q488H	probably benign	Het
Tmc7	T	G	7: 118,146,624 (GRCm39)	Q488P	possibly damaging	Het
Tmem45b	C	T	9: 31,338,188 (GRCm39)	D264N	probably benign	Het
Tmtc4	A	C	14: 123,210,641 (GRCm39)	S72R	probably benign	Het
Tnc	C	A	4: 63,882,904 (GRCm39)	D1906Y	probably damaging	Het
Ubac1	A	T	2: 25,896,609 (GRCm39)	M302K	probably benign	Het
Ubox5	A	G	2: 130,442,597 (GRCm39)	I30T	probably damaging	Het
Vwce	A	G	19: 10,615,461 (GRCm39)	N114S	possibly damaging	Het
Xpo5	T	A	17: 46,550,495 (GRCm39)	D992E	probably benign	Het
Zfhx2	G	A	14: 55,312,437 (GRCm39)	P86S	probably benign	Het
Zfp335	T	C	2: 164,735,636 (GRCm39)	H1106R	possibly damaging	Het
Zfp653	T	A	9: 21,977,053 (GRCm39)	Q166L	probably damaging	Het
Zp3r	T	A	1: 130,510,609 (GRCm39)	N436I	possibly damaging	Het

Other mutations in Kcng3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Kcng3	APN	17	83,895,279 (GRCm39)	missense	probably damaging	1.00
R0034:Kcng3	UTSW	17	83,895,812 (GRCm39)	splice site	probably benign
R0056:Kcng3	UTSW	17	83,895,185 (GRCm39)	missense	probably damaging	0.98
R0335:Kcng3	UTSW	17	83,895,166 (GRCm39)	missense	possibly damaging	0.51
R1224:Kcng3	UTSW	17	83,938,824 (GRCm39)	missense	probably damaging	1.00
R1462:Kcng3	UTSW	17	83,938,492 (GRCm39)	missense	probably damaging	0.96
R1601:Kcng3	UTSW	17	83,895,768 (GRCm39)	missense	probably damaging	1.00
R3147:Kcng3	UTSW	17	83,895,749 (GRCm39)	missense	possibly damaging	0.71
R4854:Kcng3	UTSW	17	83,895,735 (GRCm39)	missense	probably damaging	0.97
R5408:Kcng3	UTSW	17	83,938,434 (GRCm39)	missense	probably benign	0.12
R5719:Kcng3	UTSW	17	83,938,563 (GRCm39)	missense	possibly damaging	0.71
R5791:Kcng3	UTSW	17	83,895,639 (GRCm39)	missense	probably benign	0.02
R6155:Kcng3	UTSW	17	83,895,807 (GRCm39)	missense	probably benign
R6437:Kcng3	UTSW	17	83,938,558 (GRCm39)	missense	probably damaging	1.00
R8139:Kcng3	UTSW	17	83,938,516 (GRCm39)	missense	probably damaging	1.00
R8279:Kcng3	UTSW	17	83,895,254 (GRCm39)	missense	probably damaging	1.00
R8325:Kcng3	UTSW	17	83,939,007 (GRCm39)	missense	possibly damaging	0.83
R9072:Kcng3	UTSW	17	83,938,423 (GRCm39)	missense	possibly damaging	0.95
R9073:Kcng3	UTSW	17	83,938,423 (GRCm39)	missense	possibly damaging	0.95
R9599:Kcng3	UTSW	17	83,895,211 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTGGCGAAATCCTTGTTGG -3'
(R):5'- TATCTGCATAGGGTGGTTCAC -3'

Sequencing Primer
(F):5'- AGGTCCAGCCCATGTTCAAG -3'
(R):5'- TTCACCGCGGAGTGCATC -3'

Posted On

2019-06-07