Mutagenetix > Incidental Mutation

Incidental Mutation 'R0056:Kcng3'

18426

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

MMRRC Submission

038350-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R0056 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

83893386-83939324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83895185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 427 (L427P)

Ref Sequence

ENSEMBL: ENSMUSP00000054910 (fasta)

Gene Model

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

AlphaFold

P59053

Predicted Effect

probably damaging
Transcript: ENSMUST00000051482
AA Change: L427P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054910
Gene: ENSMUSG00000045053
AA Change: L427P

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

0.4278

Coding Region Coverage

1x: 89.2%
3x: 86.3%
10x: 78.7%
20x: 65.9%

Validation Efficiency

89% (66/74)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	T	8: 44,078,540 (GRCm39)	C561*	probably null	Het
Ankfn1	A	G	11: 89,282,502 (GRCm39)	S1061P	possibly damaging	Het
Atp9b	A	G	18: 80,809,018 (GRCm39)	S634P	probably damaging	Het
Bche	A	T	3: 73,608,654 (GRCm39)	N257K	possibly damaging	Het
Bms1	A	T	6: 118,382,190 (GRCm39)	D449E	probably benign	Het
C630050I24Rik	G	T	8: 107,846,026 (GRCm39)	V59F	unknown	Het
Camkk2	C	T	5: 122,880,261 (GRCm39)	E452K	probably damaging	Het
Ccdc121rt1	T	C	1: 181,338,118 (GRCm39)	Y278C	probably damaging	Het
Chd9	A	G	8: 91,660,165 (GRCm39)	H375R	possibly damaging	Het
Entpd7	T	A	19: 43,713,733 (GRCm39)	V364E	probably benign	Het
Epb41l3	A	T	17: 69,560,392 (GRCm39)	D313V	probably damaging	Het
Etv6	G	T	6: 134,225,497 (GRCm39)	E154*	probably null	Het
Fshr	T	G	17: 89,295,885 (GRCm39)	H274P	probably damaging	Het
G3bp1	A	G	11: 55,388,867 (GRCm39)	N360D	probably benign	Het
Gdf11	C	T	10: 128,722,294 (GRCm39)	R187H	probably benign	Het
Gpihbp1	T	A	15: 75,468,982 (GRCm39)	I52N	probably damaging	Het
H1f8	G	T	6: 115,923,934 (GRCm39)		probably benign	Het
Htt	T	C	5: 34,983,422 (GRCm39)		probably benign	Het
Iqcm	A	G	8: 76,480,014 (GRCm39)	Q324R	probably benign	Het
Klk7	T	C	7: 43,461,434 (GRCm39)	L17P	possibly damaging	Het
Klrd1	G	A	6: 129,570,738 (GRCm39)	V50I	probably benign	Het
Lama5	A	T	2: 179,828,899 (GRCm39)		probably benign	Het
Lamtor3	T	A	3: 137,632,711 (GRCm39)		probably benign	Het
Lyplal1	G	A	1: 185,820,763 (GRCm39)	T228I	probably benign	Het
Mapk6	A	G	9: 75,296,098 (GRCm39)	Y467H	possibly damaging	Het
Marchf6	T	C	15: 31,467,880 (GRCm39)	T776A	possibly damaging	Het
Mogat1	T	G	1: 78,500,407 (GRCm39)	M157R	probably damaging	Het
Morc2b	T	A	17: 33,357,733 (GRCm39)	Q13L	possibly damaging	Het
Myo1h	C	T	5: 114,468,273 (GRCm39)	T356I	probably damaging	Het
Ncoa2	C	A	1: 117,516,497 (GRCm38)		probably null	Het
Nobox	A	G	6: 43,281,853 (GRCm39)	C407R	probably benign	Het
Nup58	A	G	14: 60,476,924 (GRCm39)		probably null	Het
Or56a4	A	G	7: 104,806,329 (GRCm39)	S187P	probably benign	Het
Otoa	A	G	7: 120,730,570 (GRCm39)	Y590C	probably benign	Het
Pelp1	A	T	11: 70,284,658 (GRCm39)	V1070E	unknown	Het
Pglyrp3	G	T	3: 91,933,111 (GRCm39)		probably benign	Het
Plpp2	A	G	10: 79,363,063 (GRCm39)	F189S	probably damaging	Het
Polr2b	T	C	5: 77,482,382 (GRCm39)	I640T	possibly damaging	Het
Ryr2	T	A	13: 11,683,924 (GRCm39)	T3047S	probably damaging	Het
Snx25	A	T	8: 46,491,550 (GRCm39)	W847R	probably damaging	Het
Son	T	C	16: 91,475,043 (GRCm39)	Y454H	possibly damaging	Het
Sos1	A	T	17: 80,721,050 (GRCm39)	N923K	probably damaging	Het
Tex15	A	G	8: 34,072,055 (GRCm39)	H2534R	probably benign	Het
Ticam2	G	T	18: 46,693,401 (GRCm39)	Q229K	possibly damaging	Het
Tnfaip3	A	T	10: 18,881,041 (GRCm39)	V342E	probably damaging	Het
Traf6	A	G	2: 101,527,496 (GRCm39)	I415M	possibly damaging	Het
Trpm1	A	G	7: 63,893,334 (GRCm39)	D1062G	probably damaging	Het
Wdr59	C	T	8: 112,207,239 (GRCm39)		probably benign	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
PIT4403001:Kcng3	UTSW	17	83,895,611 (GRCm39)	missense	probably damaging	1.00
R0034:Kcng3	UTSW	17	83,895,812 (GRCm39)	splice site	probably benign
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

Posted On

2013-03-25