Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03239:Kcnv1'

414213

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnv1

Ensembl Gene

ENSMUSG00000022342

Gene Name

potassium channel, subfamily V, member 1

Synonyms

2700023A03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03239

Quality Score

Status

Chromosome

Chromosomal Location

44969680-44978316 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 44972886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022967]

AlphaFold

Q8BZN2

Predicted Effect

probably benign
Transcript: ENSMUST00000022967

SMART Domains

Protein: ENSMUSP00000022967
Gene: ENSMUSG00000022342

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
BTB	42	160	1.17e-12	SMART
Pfam:Ion_trans	212	440	8.9e-45	PFAM
Pfam:Ion_trans_2	350	436	3.9e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228536

Coding Region Coverage

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 voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. [provided by RefSeq, Jul 2008]
PHENOTYPE: At weaning, homozygous mutant mice exhibit tetany, tremors and ataxia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,381,835 (GRCm39)	Y309C	probably damaging	Het
Arvcf	G	T	16: 18,214,932 (GRCm39)	V44L	probably damaging	Het
Catsperg2	T	G	7: 29,397,141 (GRCm39)	S1121R	probably benign	Het
Ccdc190	G	T	1: 169,761,549 (GRCm39)	R217L	probably benign	Het
Chd8	G	A	14: 52,465,005 (GRCm39)	P619S	possibly damaging	Het
Cyp17a1	A	T	19: 46,655,796 (GRCm39)	W498R	probably damaging	Het
Dgka	A	G	10: 128,557,254 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,525,589 (GRCm39)	D1471G	unknown	Het
Htr2b	A	G	1: 86,027,414 (GRCm39)	F364S	probably damaging	Het
Lrrc37a	T	C	11: 103,390,233 (GRCm39)	T1731A	probably benign	Het
Mylip	A	G	13: 45,560,101 (GRCm39)	E179G	possibly damaging	Het
Olfm3	A	G	3: 114,916,243 (GRCm39)	R392G	probably damaging	Het
Pbk	T	A	14: 66,054,667 (GRCm39)	D266E	probably benign	Het
Pcdhb13	C	A	18: 37,575,888 (GRCm39)	L89M	probably damaging	Het
Pgap4	T	C	4: 49,586,034 (GRCm39)	Y378C	probably damaging	Het
Prdm5	T	G	6: 65,863,062 (GRCm39)		probably benign	Het
Rab3gap2	A	G	1: 184,982,091 (GRCm39)	D381G	probably damaging	Het
Sec24d	A	G	3: 123,130,138 (GRCm39)	N434D	probably benign	Het
Usp17la	C	T	7: 104,509,827 (GRCm39)	T144I	possibly damaging	Het
Usp35	T	C	7: 96,970,799 (GRCm39)	T336A	possibly damaging	Het

Other mutations in Kcnv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Kcnv1	APN	15	44,976,624 (GRCm39)	missense	probably benign	0.00
IGL02227:Kcnv1	APN	15	44,977,670 (GRCm39)	missense	probably damaging	1.00
IGL02472:Kcnv1	APN	15	44,972,519 (GRCm39)	nonsense	probably null
R0079:Kcnv1	UTSW	15	44,976,729 (GRCm39)	missense	probably damaging	1.00
R0534:Kcnv1	UTSW	15	44,972,645 (GRCm39)	missense	probably damaging	0.98
R0627:Kcnv1	UTSW	15	44,976,277 (GRCm39)	splice site	probably benign
R1614:Kcnv1	UTSW	15	44,977,840 (GRCm39)	missense	probably damaging	1.00
R1615:Kcnv1	UTSW	15	44,977,840 (GRCm39)	missense	probably damaging	1.00
R2942:Kcnv1	UTSW	15	44,972,581 (GRCm39)	missense	probably damaging	1.00
R4244:Kcnv1	UTSW	15	44,977,840 (GRCm39)	missense	probably damaging	1.00
R4290:Kcnv1	UTSW	15	44,977,840 (GRCm39)	missense	probably damaging	1.00
R4291:Kcnv1	UTSW	15	44,977,840 (GRCm39)	missense	probably damaging	1.00
R4293:Kcnv1	UTSW	15	44,977,840 (GRCm39)	missense	probably damaging	1.00
R4294:Kcnv1	UTSW	15	44,977,840 (GRCm39)	missense	probably damaging	1.00
R4295:Kcnv1	UTSW	15	44,977,840 (GRCm39)	missense	probably damaging	1.00
R4335:Kcnv1	UTSW	15	44,977,840 (GRCm39)	missense	probably damaging	1.00
R4342:Kcnv1	UTSW	15	44,977,840 (GRCm39)	missense	probably damaging	1.00
R4345:Kcnv1	UTSW	15	44,977,840 (GRCm39)	missense	probably damaging	1.00
R4354:Kcnv1	UTSW	15	44,977,840 (GRCm39)	missense	probably damaging	1.00
R4934:Kcnv1	UTSW	15	44,972,644 (GRCm39)	missense	probably damaging	1.00
R5240:Kcnv1	UTSW	15	44,976,640 (GRCm39)	missense	probably damaging	1.00
R5295:Kcnv1	UTSW	15	44,977,987 (GRCm39)	missense	unknown
R5631:Kcnv1	UTSW	15	44,972,753 (GRCm39)	missense	probably damaging	1.00
R5669:Kcnv1	UTSW	15	44,977,648 (GRCm39)	missense	possibly damaging	0.71
R5762:Kcnv1	UTSW	15	44,972,518 (GRCm39)	missense	probably damaging	0.99
R5776:Kcnv1	UTSW	15	44,977,963 (GRCm39)	missense	unknown
R5787:Kcnv1	UTSW	15	44,977,726 (GRCm39)	missense	probably damaging	1.00
R5980:Kcnv1	UTSW	15	44,972,810 (GRCm39)	missense	probably damaging	0.99
R6819:Kcnv1	UTSW	15	44,972,513 (GRCm39)	missense	probably damaging	0.99
R6851:Kcnv1	UTSW	15	44,972,594 (GRCm39)	missense	probably damaging	1.00
R6997:Kcnv1	UTSW	15	44,977,997 (GRCm39)	missense	unknown
R7254:Kcnv1	UTSW	15	44,976,604 (GRCm39)	missense	probably benign	0.00
R7258:Kcnv1	UTSW	15	44,972,711 (GRCm39)	missense	probably damaging	0.99
R7272:Kcnv1	UTSW	15	44,976,576 (GRCm39)	missense	probably benign	0.00
R7367:Kcnv1	UTSW	15	44,972,638 (GRCm39)	missense	probably damaging	1.00
R7995:Kcnv1	UTSW	15	44,972,743 (GRCm39)	missense	probably damaging	1.00
R8271:Kcnv1	UTSW	15	44,972,754 (GRCm39)	missense	probably benign	0.00
R8725:Kcnv1	UTSW	15	44,977,999 (GRCm39)	missense	unknown
R8727:Kcnv1	UTSW	15	44,977,999 (GRCm39)	missense	unknown
R8730:Kcnv1	UTSW	15	44,972,797 (GRCm39)	missense	probably damaging	0.99
R8754:Kcnv1	UTSW	15	44,977,865 (GRCm39)	nonsense	probably null
R9162:Kcnv1	UTSW	15	44,972,450 (GRCm39)	missense	possibly damaging	0.91
R9686:Kcnv1	UTSW	15	44,972,500 (GRCm39)	missense	probably benign	0.00
R9796:Kcnv1	UTSW	15	44,977,987 (GRCm39)	missense	unknown
X0026:Kcnv1	UTSW	15	44,972,863 (GRCm39)	missense	possibly damaging	0.69
Z1177:Kcnv1	UTSW	15	44,977,831 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02