Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03026:Kcnj8'

408183

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnj8

Ensembl Gene

ENSMUSG00000030247

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 8

Synonyms

slmbr, gnite, Kir6.1, sltr

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03026

Quality Score

Status

Chromosome

Chromosomal Location

142510563-142517340 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 142512199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032374] [ENSMUST00000203945]

AlphaFold

P97794

Predicted Effect

probably null
Transcript: ENSMUST00000032374

SMART Domains

Protein: ENSMUSP00000032374
Gene: ENSMUSG00000030247

Domain	Start	End	E-Value	Type
Pfam:IRK	37	371	2.3e-141	PFAM
low complexity region	378	404	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000203945
AA Change: E136G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145440
Gene: ENSMUSG00000030247
AA Change: E136G

Domain	Start	End	E-Value	Type
Pfam:IRK	37	371	2.3e-141	PFAM
low complexity region	378	404	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit sudden cardiac death due to dysregulation of the vascular tonus in the coronary arteries, and exhibit a phenotype resembling Prinzmetal (or variant) angina in humans. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,410,516 (GRCm39)	V154A	possibly damaging	Het
Adcy4	T	C	14: 56,015,467 (GRCm39)	Y481C	probably damaging	Het
Adcy5	T	C	16: 34,977,412 (GRCm39)	V315A	probably benign	Het
Atf7ip	G	A	6: 136,582,380 (GRCm39)	S1130N	possibly damaging	Het
Ctss	A	G	3: 95,446,141 (GRCm39)	D87G	probably benign	Het
Cwf19l2	A	T	9: 3,428,777 (GRCm39)	K254N	probably benign	Het
Dnajc10	A	G	2: 80,179,647 (GRCm39)	D727G	probably damaging	Het
Dsg3	G	A	18: 20,670,029 (GRCm39)		probably null	Het
Ehmt1	T	C	2: 24,742,746 (GRCm39)	M478V	probably benign	Het
Enam	A	T	5: 88,651,158 (GRCm39)	N889I	probably benign	Het
Exo1	G	T	1: 175,736,003 (GRCm39)	*148L	probably null	Het
Fam133b	G	T	5: 3,609,646 (GRCm39)		probably benign	Het
Foxj2	G	A	6: 122,815,139 (GRCm39)	A392T	probably benign	Het
Gbp4	G	T	5: 105,267,866 (GRCm39)	A460E	possibly damaging	Het
H1f5	G	A	13: 21,964,117 (GRCm39)		probably benign	Het
Has3	A	T	8: 107,605,242 (GRCm39)	I483F	probably benign	Het
Irak2	T	A	6: 113,653,612 (GRCm39)	V260E	probably damaging	Het
Lama5	A	G	2: 179,837,760 (GRCm39)	V936A	probably benign	Het
Lmo7	C	T	14: 102,166,769 (GRCm39)		probably benign	Het
Morc3	T	A	16: 93,659,612 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,226,414 (GRCm39)		probably benign	Het
Nkx2-2	T	C	2: 147,027,742 (GRCm39)	Y66C	probably damaging	Het
Oaz1	G	A	10: 80,664,634 (GRCm39)		probably benign	Het
Or2y1f	A	T	11: 49,184,285 (GRCm39)	I46F	probably damaging	Het
Or6c38	G	A	10: 128,929,057 (GRCm39)	A262V	possibly damaging	Het
Or6c65	A	T	10: 129,603,910 (GRCm39)	M182L	probably benign	Het
Pkd2	A	T	5: 104,642,753 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,792,349 (GRCm39)		probably benign	Het
Ralgapa2	C	A	2: 146,302,695 (GRCm39)		probably benign	Het
Rfx7	T	C	9: 72,526,967 (GRCm39)	S1386P	probably damaging	Het
Ric1	T	G	19: 29,577,233 (GRCm39)	W1046G	probably benign	Het
Rrp12	C	A	19: 41,861,436 (GRCm39)	R957L	probably damaging	Het
Scn7a	T	C	2: 66,506,442 (GRCm39)	I1482M	probably damaging	Het
Sema3b	T	C	9: 107,479,262 (GRCm39)	N236S	probably damaging	Het
Skint6	T	A	4: 112,848,441 (GRCm39)		probably null	Het
Slfn5	T	C	11: 82,847,387 (GRCm39)	Y91H	probably benign	Het
Sptbn2	T	A	19: 4,774,261 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,249,046 (GRCm39)	L546P	probably benign	Het
Tas1r3	A	G	4: 155,946,300 (GRCm39)		probably benign	Het
Trim75	A	G	8: 65,436,438 (GRCm39)	V4A	probably benign	Het
Usp19	T	C	9: 108,370,344 (GRCm39)	L56P	probably damaging	Het
Vmn1r181	T	G	7: 23,684,000 (GRCm39)	I155S	possibly damaging	Het
Vmn2r43	G	T	7: 8,258,096 (GRCm39)	D372E	probably benign	Het
Vstm2b	C	A	7: 40,551,945 (GRCm39)	S99*	probably null	Het
Wdr11	A	G	7: 129,226,060 (GRCm39)	D735G	probably damaging	Het
Wee2	T	A	6: 40,438,915 (GRCm39)	M346K	probably benign	Het
Zap70	A	G	1: 36,818,798 (GRCm39)	K371R	possibly damaging	Het
Zfp990	A	T	4: 145,263,680 (GRCm39)	H226L	possibly damaging	Het

Other mutations in Kcnj8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Kcnj8	APN	6	142,515,961 (GRCm39)	missense	probably damaging	1.00
IGL02303:Kcnj8	APN	6	142,515,837 (GRCm39)	missense	probably benign	0.01
goodnight	UTSW	6	0 ()	large deletion
mayday	UTSW	6	0 ()	large deletion
slumber	UTSW	6	0 ()	large deletion
solitaire	UTSW	6	0 ()	large deletion
sos	UTSW	6	142,511,653 (GRCm39)	missense	probably damaging	1.00
R0278:Kcnj8	UTSW	6	142,516,074 (GRCm39)	missense	probably benign	0.12
R0927:Kcnj8	UTSW	6	142,511,627 (GRCm39)	missense	possibly damaging	0.82
R1680:Kcnj8	UTSW	6	142,515,915 (GRCm39)	nonsense	probably null
R1864:Kcnj8	UTSW	6	142,515,966 (GRCm39)	missense	probably damaging	1.00
R1865:Kcnj8	UTSW	6	142,515,966 (GRCm39)	missense	probably damaging	1.00
R2087:Kcnj8	UTSW	6	142,511,422 (GRCm39)	missense	probably benign	0.02
R4900:Kcnj8	UTSW	6	142,512,221 (GRCm39)	missense	probably damaging	1.00
R5863:Kcnj8	UTSW	6	142,511,414 (GRCm39)	missense	probably benign	0.02
R6493:Kcnj8	UTSW	6	142,511,773 (GRCm39)	missense	probably damaging	1.00
R6598:Kcnj8	UTSW	6	142,515,959 (GRCm39)	missense	probably damaging	1.00
R7068:Kcnj8	UTSW	6	142,511,965 (GRCm39)	missense	probably damaging	1.00
R7587:Kcnj8	UTSW	6	142,512,065 (GRCm39)	missense	probably damaging	1.00
R7698:Kcnj8	UTSW	6	142,511,479 (GRCm39)	missense	probably damaging	1.00
R7908:Kcnj8	UTSW	6	142,511,755 (GRCm39)	missense	probably benign	0.44
R9199:Kcnj8	UTSW	6	142,512,118 (GRCm39)	missense	probably damaging	1.00
R9757:Kcnj8	UTSW	6	142,515,805 (GRCm39)	missense	probably benign	0.00
X0018:Kcnj8	UTSW	6	142,511,640 (GRCm39)	missense	probably benign	0.17
X0020:Kcnj8	UTSW	6	142,511,640 (GRCm39)	missense	probably benign	0.17
X0026:Kcnj8	UTSW	6	142,511,640 (GRCm39)	missense	probably benign	0.17
X0027:Kcnj8	UTSW	6	142,511,640 (GRCm39)	missense	probably benign	0.17
X0061:Kcnj8	UTSW	6	142,515,846 (GRCm39)	missense	probably damaging	1.00
X0065:Kcnj8	UTSW	6	142,511,640 (GRCm39)	missense	probably benign	0.17

Posted On

2016-08-02