Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00808:Kcnq3'

11572

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnq3

Ensembl Gene

ENSMUSG00000056258

Gene Name

potassium voltage-gated channel, subfamily Q, member 3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL00808

Quality Score

Status

Chromosome

Chromosomal Location

65858236-66158491 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65867603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 680 (D680G)

Ref Sequence

ENSEMBL: ENSMUSP00000063380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070256]

AlphaFold

Q8K3F6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070256
AA Change: D680G

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: D680G

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
low complexity region	66	85	N/A	INTRINSIC
Pfam:Ion_trans	122	364	9.9e-31	PFAM
Pfam:Ion_trans_2	268	357	3.4e-14	PFAM
Pfam:KCNQ_channel	448	658	1.4e-89	PFAM
Pfam:KCNQC3-Ank-G_bd	771	867	3.8e-41	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	A	G	7: 28,314,377 (GRCm39)	I297T	probably damaging	Het
Agtpbp1	T	C	13: 59,609,908 (GRCm39)	E131G	possibly damaging	Het
Ankrd12	A	G	17: 66,290,960 (GRCm39)	L1491S	probably benign	Het
Arid4b	T	C	13: 14,310,846 (GRCm39)		probably null	Het
Aspm	T	A	1: 139,389,214 (GRCm39)	S626T	probably benign	Het
Catsperg1	A	G	7: 28,897,571 (GRCm39)	S238P	probably damaging	Het
Clns1a	A	G	7: 97,365,721 (GRCm39)	H241R	probably damaging	Het
Cryzl2	T	C	1: 157,298,246 (GRCm39)	F212L	probably benign	Het
Epha5	A	T	5: 84,254,559 (GRCm39)	V519E	probably damaging	Het
Kras	T	C	6: 145,192,474 (GRCm39)	T20A	probably damaging	Het
Myh13	T	C	11: 67,225,830 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,616,121 (GRCm39)		probably benign	Het
Pde8a	G	A	7: 80,932,762 (GRCm39)		probably null	Het
Rasgef1a	A	T	6: 118,065,164 (GRCm39)	K384M	probably damaging	Het
Selenov	A	G	7: 27,989,851 (GRCm39)	S218P	probably damaging	Het
Tg	T	A	15: 66,555,662 (GRCm39)	Y785N	probably damaging	Het
Ttll13	G	T	7: 79,909,297 (GRCm39)	A661S	possibly damaging	Het

Other mutations in Kcnq3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Kcnq3	APN	15	65,867,120 (GRCm39)	missense	probably damaging	1.00
IGL00969:Kcnq3	APN	15	65,876,575 (GRCm39)	missense	probably damaging	1.00
IGL01121:Kcnq3	APN	15	65,877,826 (GRCm39)	splice site	probably benign
IGL01996:Kcnq3	APN	15	65,895,545 (GRCm39)	missense	probably damaging	0.98
IGL02153:Kcnq3	APN	15	65,897,040 (GRCm39)	missense	probably damaging	0.96
IGL02950:Kcnq3	APN	15	65,892,142 (GRCm39)	missense	probably benign	0.12
IGL02963:Kcnq3	APN	15	66,157,675 (GRCm39)	splice site	probably benign
IGL03102:Kcnq3	APN	15	65,900,637 (GRCm39)	missense	probably damaging	1.00
IGL03050:Kcnq3	UTSW	15	65,897,027 (GRCm39)	missense	possibly damaging	0.52
R0345:Kcnq3	UTSW	15	65,892,154 (GRCm39)	missense	possibly damaging	0.55
R0388:Kcnq3	UTSW	15	65,871,887 (GRCm39)	missense	probably benign	0.00
R0730:Kcnq3	UTSW	15	65,867,457 (GRCm39)	missense	probably benign
R1173:Kcnq3	UTSW	15	65,871,891 (GRCm39)	missense	probably benign	0.01
R1610:Kcnq3	UTSW	15	65,897,109 (GRCm39)	missense	probably damaging	1.00
R1678:Kcnq3	UTSW	15	65,903,281 (GRCm39)	missense	probably damaging	1.00
R1714:Kcnq3	UTSW	15	65,871,912 (GRCm39)	missense	probably benign	0.21
R1755:Kcnq3	UTSW	15	65,867,270 (GRCm39)	missense	probably damaging	1.00
R1768:Kcnq3	UTSW	15	65,877,755 (GRCm39)	missense	probably damaging	0.98
R1873:Kcnq3	UTSW	15	65,874,104 (GRCm39)	missense	probably benign	0.16
R1925:Kcnq3	UTSW	15	65,876,658 (GRCm39)	missense	possibly damaging	0.75
R1970:Kcnq3	UTSW	15	65,900,472 (GRCm39)	critical splice donor site	probably null
R2140:Kcnq3	UTSW	15	65,877,827 (GRCm39)	splice site	probably benign
R2141:Kcnq3	UTSW	15	65,867,700 (GRCm39)	missense	probably benign	0.21
R2149:Kcnq3	UTSW	15	65,895,578 (GRCm39)	missense	probably damaging	1.00
R2212:Kcnq3	UTSW	15	65,892,142 (GRCm39)	missense	probably benign
R2272:Kcnq3	UTSW	15	65,900,529 (GRCm39)	missense	probably damaging	1.00
R2566:Kcnq3	UTSW	15	65,903,276 (GRCm39)	missense	probably damaging	1.00
R2909:Kcnq3	UTSW	15	65,897,085 (GRCm39)	missense	possibly damaging	0.87
R3703:Kcnq3	UTSW	15	65,893,588 (GRCm39)	critical splice donor site	probably null
R3704:Kcnq3	UTSW	15	65,893,588 (GRCm39)	critical splice donor site	probably null
R3899:Kcnq3	UTSW	15	65,902,372 (GRCm39)	missense	probably benign	0.01
R4096:Kcnq3	UTSW	15	66,157,664 (GRCm39)	splice site	probably null
R4421:Kcnq3	UTSW	15	65,867,360 (GRCm39)	missense	probably benign	0.01
R4504:Kcnq3	UTSW	15	65,867,191 (GRCm39)	nonsense	probably null
R4505:Kcnq3	UTSW	15	65,867,191 (GRCm39)	nonsense	probably null
R4571:Kcnq3	UTSW	15	65,902,461 (GRCm39)	missense	probably damaging	1.00
R4577:Kcnq3	UTSW	15	66,158,063 (GRCm39)	missense	unknown
R4900:Kcnq3	UTSW	15	65,867,259 (GRCm39)	missense	probably damaging	1.00
R4981:Kcnq3	UTSW	15	65,903,254 (GRCm39)	missense	possibly damaging	0.84
R5015:Kcnq3	UTSW	15	65,876,612 (GRCm39)	missense	probably damaging	1.00
R5049:Kcnq3	UTSW	15	66,157,746 (GRCm39)	missense	probably benign	0.17
R5245:Kcnq3	UTSW	15	65,903,284 (GRCm39)	missense	possibly damaging	0.89
R5334:Kcnq3	UTSW	15	65,897,073 (GRCm39)	missense	probably damaging	1.00
R5528:Kcnq3	UTSW	15	65,897,027 (GRCm39)	missense	probably damaging	0.97
R5532:Kcnq3	UTSW	15	65,869,622 (GRCm39)	nonsense	probably null
R5630:Kcnq3	UTSW	15	65,896,971 (GRCm39)	missense	probably damaging	1.00
R5639:Kcnq3	UTSW	15	65,869,599 (GRCm39)	missense	probably damaging	0.96
R5936:Kcnq3	UTSW	15	65,871,959 (GRCm39)	missense	probably damaging	1.00
R6306:Kcnq3	UTSW	15	65,876,643 (GRCm39)	missense	probably benign	0.40
R6576:Kcnq3	UTSW	15	65,897,027 (GRCm39)	missense	possibly damaging	0.52
R7006:Kcnq3	UTSW	15	65,892,165 (GRCm39)	nonsense	probably null
R7403:Kcnq3	UTSW	15	65,874,066 (GRCm39)	missense	probably damaging	1.00
R8140:Kcnq3	UTSW	15	65,867,390 (GRCm39)	missense	probably damaging	1.00
R9189:Kcnq3	UTSW	15	65,867,510 (GRCm39)	missense	probably damaging	1.00
RF045:Kcnq3	UTSW	15	66,158,033 (GRCm39)	small deletion	probably benign
X0060:Kcnq3	UTSW	15	65,903,235 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnq3	UTSW	15	65,867,301 (GRCm39)	missense	possibly damaging	0.75

Posted On

2012-12-06