Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02472:Kcnv1'

294770

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02472

Quality Score

Status

Chromosome

Chromosomal Location

45106284-45114920 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 45109123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 455 (K455*)

Ref Sequence

ENSEMBL: ENSMUSP00000022967 (fasta)

Gene Model

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

AlphaFold

Q8BZN2

Predicted Effect

probably null
Transcript: ENSMUST00000022967
AA Change: K455*

SMART Domains

Protein: ENSMUSP00000022967
Gene: ENSMUSG00000022342
AA Change: K455*

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	A	G	15: 76,950,378	N158S	probably damaging	Het
Ankrd17	A	C	5: 90,264,151	L1285V	probably damaging	Het
Atp8b2	G	A	3: 89,954,239	T267I	probably damaging	Het
Becn1	C	T	11: 101,291,398	G115D	probably benign	Het
Cd3eap	T	C	7: 19,359,105	D50G	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Chd6	A	C	2: 160,984,452		probably benign	Het
Col22a1	A	G	15: 71,827,753		probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnm2	A	G	9: 21,485,708	I494V	possibly damaging	Het
Dock2	T	A	11: 34,249,801	E1416D	probably benign	Het
Eif2ak1	A	G	5: 143,884,883	H339R	probably benign	Het
Espnl	C	T	1: 91,340,534	P294L	probably benign	Het
Ftmt	T	A	18: 52,331,840	I76N	possibly damaging	Het
Gorasp2	T	G	2: 70,676,459		probably benign	Het
Hadhb	T	A	5: 30,184,063	M468K	possibly damaging	Het
Hfm1	A	G	5: 106,873,928		probably benign	Het
Inpp5j	T	C	11: 3,495,338		probably benign	Het
Ipo7	T	A	7: 110,040,853	F288I	probably damaging	Het
Kdm5a	A	G	6: 120,406,730		probably benign	Het
Kmt2d	G	A	15: 98,850,077	S3122F	probably benign	Het
Kndc1	A	G	7: 139,910,901	I440V	probably benign	Het
Mib2	T	A	4: 155,656,746	I545F	probably damaging	Het
Nav2	C	T	7: 49,546,041	P1055L	probably damaging	Het
Olfr111	C	A	17: 37,530,749	F257L	probably damaging	Het
Olfr1257	T	A	2: 89,881,411	I195N	probably benign	Het
Plch1	A	T	3: 63,701,849	L65Q	probably damaging	Het
Ppp3ca	A	G	3: 136,921,862	I396V	possibly damaging	Het
Ryr1	A	T	7: 29,040,844	N3917K	probably damaging	Het
Scn7a	T	C	2: 66,752,314	T80A	probably damaging	Het
Sema3f	C	T	9: 107,687,736	E307K	probably damaging	Het
Serpinb9b	A	T	13: 33,039,970		probably benign	Het
Siglec15	T	A	18: 78,043,617	K342N	possibly damaging	Het
Slc2a12	T	C	10: 22,665,155	F303S	probably damaging	Het
Slc9c1	T	C	16: 45,580,142	V705A	probably benign	Het
Tenm4	T	C	7: 96,774,176		probably benign	Het
Tm6sf1	A	T	7: 81,875,824		probably benign	Het
Tmem245	T	C	4: 56,899,119	Y269C	probably damaging	Het
Txndc2	A	G	17: 65,637,976	I402T	possibly damaging	Het
Ube4b	A	G	4: 149,387,079		probably null	Het
Usp28	T	A	9: 49,037,769	Y863N	possibly damaging	Het
Vmn2r69	T	C	7: 85,409,752	I534V	probably benign	Het
Wdr89	A	T	12: 75,632,969	D170E	probably damaging	Het
Zfp280d	C	A	9: 72,301,711	N74K	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het

Other mutations in Kcnv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Kcnv1	APN	15	45113228	missense	probably benign	0.00
IGL02227:Kcnv1	APN	15	45114274	missense	probably damaging	1.00
IGL03239:Kcnv1	APN	15	45109490	splice site	probably benign
R0079:Kcnv1	UTSW	15	45113333	missense	probably damaging	1.00
R0534:Kcnv1	UTSW	15	45109249	missense	probably damaging	0.98
R0627:Kcnv1	UTSW	15	45112881	splice site	probably benign
R1614:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R1615:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R2942:Kcnv1	UTSW	15	45109185	missense	probably damaging	1.00
R4244:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4290:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4291:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4293:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4294:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4295:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4335:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4342:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4345:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4354:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4934:Kcnv1	UTSW	15	45109248	missense	probably damaging	1.00
R5240:Kcnv1	UTSW	15	45113244	missense	probably damaging	1.00
R5295:Kcnv1	UTSW	15	45114591	missense	unknown
R5631:Kcnv1	UTSW	15	45109357	missense	probably damaging	1.00
R5669:Kcnv1	UTSW	15	45114252	missense	possibly damaging	0.71
R5762:Kcnv1	UTSW	15	45109122	missense	probably damaging	0.99
R5776:Kcnv1	UTSW	15	45114567	missense	unknown
R5787:Kcnv1	UTSW	15	45114330	missense	probably damaging	1.00
R5980:Kcnv1	UTSW	15	45109414	missense	probably damaging	0.99
R6819:Kcnv1	UTSW	15	45109117	missense	probably damaging	0.99
R6851:Kcnv1	UTSW	15	45109198	missense	probably damaging	1.00
R6997:Kcnv1	UTSW	15	45114601	missense	unknown
R7254:Kcnv1	UTSW	15	45113208	missense	probably benign	0.00
R7258:Kcnv1	UTSW	15	45109315	missense	probably damaging	0.99
R7272:Kcnv1	UTSW	15	45113180	missense	probably benign	0.00
R7367:Kcnv1	UTSW	15	45109242	missense	probably damaging	1.00
R7995:Kcnv1	UTSW	15	45109347	missense	probably damaging	1.00
R8271:Kcnv1	UTSW	15	45109358	missense	probably benign	0.00
R8725:Kcnv1	UTSW	15	45114603	missense	unknown
R8727:Kcnv1	UTSW	15	45114603	missense	unknown
R8730:Kcnv1	UTSW	15	45109401	missense	probably damaging	0.99
R8754:Kcnv1	UTSW	15	45114469	nonsense	probably null
R9162:Kcnv1	UTSW	15	45109054	missense	possibly damaging	0.91
X0026:Kcnv1	UTSW	15	45109467	missense	possibly damaging	0.69
Z1177:Kcnv1	UTSW	15	45114435	missense	probably damaging	1.00

Posted On

2015-04-16