Mutagenetix > Incidental Mutation

Incidental Mutation 'R6959:Kcne4'

541625

Institutional Source

Beutler Lab

Gene Symbol

Kcne4

Ensembl Gene

ENSMUSG00000047330

Gene Name

potassium voltage-gated channel, Isk-related subfamily, gene 4

Synonyms

MiRP3

MMRRC Submission

045069-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R6959 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78794628-78797749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78795603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 84 (M84V)

Ref Sequence

ENSEMBL: ENSMUSP00000055415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057262] [ENSMUST00000187432]

AlphaFold

Q9WTW3

Predicted Effect

probably benign
Transcript: ENSMUST00000057262
AA Change: M84V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000055415
Gene: ENSMUSG00000047330
AA Change: M84V

Domain	Start	End	E-Value	Type
Pfam:ISK_Channel	4	86	2.3e-11	PFAM
low complexity region	124	131	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187432

SMART Domains

Protein: ENSMUSP00000140235
Gene: ENSMUSG00000047330

Domain	Start	End	E-Value	Type
Pfam:ISK_Channel	6	64	2.5e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

94% (61/65)

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, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	G	A	11: 70,507,485 (GRCm39)	G177R	probably damaging	Het
Arhgef12	T	C	9: 42,927,249 (GRCm39)	T292A	probably benign	Het
Atp11a	T	A	8: 12,870,467 (GRCm39)	D173E	probably damaging	Het
Bltp1	T	G	3: 37,021,338 (GRCm39)	V2154G	probably damaging	Het
Btnl2	G	A	17: 34,582,333 (GRCm39)	V300M	possibly damaging	Het
Calcrl	A	T	2: 84,200,428 (GRCm39)	N117K	possibly damaging	Het
Castor2	T	C	5: 134,164,052 (GRCm39)	S83P	probably damaging	Het
Ccdc196	A	G	12: 78,249,070 (GRCm39)	K139E	probably damaging	Het
Ccl22	A	T	8: 95,473,528 (GRCm39)		probably null	Het
Cd200r1	T	A	16: 44,610,539 (GRCm39)	S216T	probably damaging	Het
Cdk5rap2	G	A	4: 70,278,906 (GRCm39)		probably null	Het
Cfap157	A	G	2: 32,674,260 (GRCm39)	I47T	probably damaging	Het
Chodl	G	A	16: 78,743,572 (GRCm39)	V220I	probably damaging	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Cstf3	A	G	2: 104,479,807 (GRCm39)	T225A	probably benign	Het
Duoxa1	T	C	2: 122,134,318 (GRCm39)	S267G	probably damaging	Het
Epb41l1	G	A	2: 156,341,507 (GRCm39)	S164N	probably benign	Het
Fat3	T	C	9: 15,908,181 (GRCm39)	D2607G	possibly damaging	Het
Galnt5	A	G	2: 57,889,231 (GRCm39)	D277G	probably benign	Het
Galnt6	A	G	15: 100,612,006 (GRCm39)	I212T	probably damaging	Het
Gm45861	T	C	8: 28,038,213 (GRCm39)		probably null	Het
Gm5478	T	C	15: 101,553,883 (GRCm39)	D243G	probably damaging	Het
Gse1	A	G	8: 121,297,710 (GRCm39)		probably benign	Het
Hspg2	A	T	4: 137,246,600 (GRCm39)	Q1096L	probably benign	Het
Hycc1	T	C	5: 24,196,754 (GRCm39)	I45V	possibly damaging	Het
Idh3b	A	G	2: 130,123,447 (GRCm39)	V181A	probably damaging	Het
Igf2bp3	T	C	6: 49,094,082 (GRCm39)		probably null	Het
Ikzf2	A	G	1: 69,577,929 (GRCm39)	*382Q	probably null	Het
Impg2	A	C	16: 56,088,693 (GRCm39)	H1073P	probably benign	Het
Incenp	T	C	19: 9,854,134 (GRCm39)	E639G	unknown	Het
Ktn1	T	A	14: 47,957,713 (GRCm39)	F1004I	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Malrd1	A	G	2: 16,222,820 (GRCm39)	I2040V	probably damaging	Het
Mau2	T	C	8: 70,485,878 (GRCm39)	D110G	probably damaging	Het
Mei1	T	C	15: 82,009,076 (GRCm39)	V1237A	probably benign	Het
Mfsd11	T	G	11: 116,752,495 (GRCm39)		probably null	Het
Ncapd2	A	G	6: 125,145,883 (GRCm39)	F1293L	probably benign	Het
Nf1	A	G	11: 79,440,294 (GRCm39)	T280A	probably damaging	Het
Obscn	G	T	11: 58,928,411 (GRCm39)	A6085E	probably damaging	Het
Or51b6b	T	A	7: 103,310,050 (GRCm39)	I136F	probably damaging	Het
Pdzd2	C	T	15: 12,375,993 (GRCm39)	A1381T	probably benign	Het
Pramel41	T	A	5: 94,594,891 (GRCm39)	N250K	possibly damaging	Het
Ralgapa2	A	G	2: 146,184,621 (GRCm39)	V1462A	probably damaging	Het
Rbx1	T	A	15: 81,355,163 (GRCm39)	C56*	probably null	Het
Reln	A	G	5: 22,181,562 (GRCm39)	S1774P	probably damaging	Het
Ros1	T	A	10: 52,040,090 (GRCm39)	E300D	probably damaging	Het
Sarnp	T	C	10: 128,684,137 (GRCm39)	V111A	possibly damaging	Het
Scube1	G	T	15: 83,513,636 (GRCm39)	Q345K	probably benign	Het
Slc18b1	A	G	10: 23,701,942 (GRCm39)		probably null	Het
Slc37a2	T	A	9: 37,152,630 (GRCm39)	T64S	probably benign	Het
Slit2	A	G	5: 48,395,727 (GRCm39)	D710G	possibly damaging	Het
Srp72	T	A	5: 77,142,070 (GRCm39)	Y375N	possibly damaging	Het
Tmco4	T	A	4: 138,737,810 (GRCm39)	V135D	probably damaging	Het
Trim62	A	G	4: 128,802,955 (GRCm39)	D335G	probably damaging	Het
Tsfm	T	C	10: 126,858,778 (GRCm39)	M196V	probably benign	Het
Tspan10	T	A	11: 120,335,522 (GRCm39)	C211S	probably damaging	Het
Ttc21b	A	T	2: 66,061,656 (GRCm39)	M498K	probably benign	Het
Ttc6	A	T	12: 57,704,928 (GRCm39)		probably null	Het
Ttll1	G	T	15: 83,386,397 (GRCm39)	Y69*	probably null	Het
Usp28	T	A	9: 48,912,842 (GRCm39)	L31H	probably damaging	Het
Vmn2r86	A	G	10: 130,282,400 (GRCm39)	S739P	probably damaging	Het
Wdr64	T	A	1: 175,533,555 (GRCm39)	F64I	probably damaging	Het
Ywhaq	A	G	12: 21,446,281 (GRCm39)		probably null	Het
Zfr	T	C	15: 12,150,409 (GRCm39)	S459P	probably damaging	Het

Other mutations in Kcne4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01618:Kcne4	APN	1	78,795,525 (GRCm39)	missense	possibly damaging	0.89
IGL03047:Kcne4	UTSW	1	78,795,495 (GRCm39)	missense	possibly damaging	0.64
R2091:Kcne4	UTSW	1	78,795,624 (GRCm39)	missense	probably benign	0.00
R2426:Kcne4	UTSW	1	78,795,688 (GRCm39)	missense	possibly damaging	0.94
R3405:Kcne4	UTSW	1	78,795,688 (GRCm39)	missense	possibly damaging	0.94
R3406:Kcne4	UTSW	1	78,795,688 (GRCm39)	missense	possibly damaging	0.94
R4158:Kcne4	UTSW	1	78,795,819 (GRCm39)	missense	probably benign	0.01
R4159:Kcne4	UTSW	1	78,795,819 (GRCm39)	missense	probably benign	0.01
R4414:Kcne4	UTSW	1	78,795,651 (GRCm39)	missense	probably benign
R8461:Kcne4	UTSW	1	78,795,433 (GRCm39)	missense	probably benign	0.26
R9020:Kcne4	UTSW	1	78,795,425 (GRCm39)	missense	probably benign	0.00
R9311:Kcne4	UTSW	1	78,795,824 (GRCm39)	missense	probably benign
R9375:Kcne4	UTSW	1	78,795,623 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGCAGTGGTAATGGCAATG -3'
(R):5'- AGCCTTCACTGCTGTCGTTG -3'

Sequencing Primer
(F):5'- GCAGTGGTAATGGCAATGAATACTTC -3'
(R):5'- CACTGCTGTCGTTGAGAGGC -3'

Posted On

2018-11-28