Mutagenetix > Incidental Mutation

Incidental Mutation 'R9199:Kcnj8'

698100

Institutional Source

Beutler Lab

Gene Symbol

Kcnj8

Ensembl Gene

ENSMUSG00000030247

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 8

Synonyms

slmbr, gnite, Kir6.1, sltr

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9199 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142510563-142517340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142512118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 163 (N163S)

Ref Sequence

ENSEMBL: ENSMUSP00000145440 (fasta)

Gene Model

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

AlphaFold

P97794

Predicted Effect

probably benign
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: N163S

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

SMART Domains

Protein: ENSMUSP00000145440
Gene: ENSMUSG00000030247
AA Change: N163S

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (51/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	T	16: 88,971,654 (GRCm39)		probably benign	Het
Abca9	A	T	11: 110,056,770 (GRCm39)	C17S	possibly damaging	Het
Acan	T	G	7: 78,736,057 (GRCm39)	F168V	probably damaging	Het
Acp7	A	G	7: 28,316,591 (GRCm39)	L128P	probably benign	Het
Agtpbp1	C	A	13: 59,613,808 (GRCm39)	M1044I	probably benign	Het
Arhgef3	A	G	14: 27,122,244 (GRCm39)	Q361R	possibly damaging	Het
Brdt	A	T	5: 107,498,029 (GRCm39)	R235*	probably null	Het
Cacna1d	A	G	14: 29,764,893 (GRCm39)	S2013P	probably benign	Het
Cacna2d4	T	A	6: 119,244,787 (GRCm39)	D274E	probably benign	Het
Ccdc24	T	A	4: 117,728,313 (GRCm39)	I144F	probably null	Het
Ceacam5	C	G	7: 17,479,350 (GRCm39)	L156V	probably benign	Het
Cenpn	G	A	8: 117,664,014 (GRCm39)		probably null	Het
Cfap69	A	T	5: 5,668,952 (GRCm39)	V385E	possibly damaging	Het
Cldnd1	A	G	16: 58,553,070 (GRCm39)	H177R	probably damaging	Het
Cr1l	A	T	1: 194,786,177 (GRCm39)	V439D	probably benign	Het
Cul2	A	G	18: 3,423,577 (GRCm39)	N329S	probably benign	Het
Cyp2c66	A	G	19: 39,130,800 (GRCm39)	K138R	probably benign	Het
Ddx46	G	A	13: 55,825,342 (GRCm39)	E996K	probably damaging	Het
Dnah14	A	G	1: 181,478,566 (GRCm39)	K1444E	possibly damaging	Het
Evl	G	A	12: 108,647,814 (GRCm39)		probably null	Het
Flnc	C	T	6: 29,441,490 (GRCm39)	T424I	probably benign	Het
Gadd45gip1	T	A	8: 85,559,128 (GRCm39)	V70E	probably damaging	Het
Garem2	A	G	5: 30,319,471 (GRCm39)	H311R	probably damaging	Het
Gm32742	G	C	9: 51,060,607 (GRCm39)	H899D	possibly damaging	Het
Gm5148	C	T	3: 37,768,989 (GRCm39)	C77Y	probably benign	Het
Gm5460	A	G	14: 33,758,393 (GRCm39)	D141G	possibly damaging	Het
Klri1	A	T	6: 129,674,264 (GRCm39)	*249R	probably null	Het
Kmt5b	A	G	19: 3,865,525 (GRCm39)	D863G	probably damaging	Het
Ltbp2	G	T	12: 84,832,750 (GRCm39)	T1538K	probably benign	Het
Or51ah3	G	A	7: 103,210,143 (GRCm39)	G153D	probably damaging	Het
Or5b120	A	G	19: 13,480,436 (GRCm39)	H243R	probably damaging	Het
Pheta2	A	T	15: 82,227,877 (GRCm39)	E132V	probably damaging	Het
Pramel16	A	G	4: 143,675,656 (GRCm39)	L390P	probably damaging	Het
Ptchd3	A	G	11: 121,721,741 (GRCm39)	I205V	probably benign	Het
Rab8b	G	A	9: 66,758,641 (GRCm39)	A152V	probably damaging	Het
Rasef	T	C	4: 73,658,625 (GRCm39)	D343G	possibly damaging	Het
Rcan2	G	A	17: 44,264,423 (GRCm39)	V28I	probably benign	Het
Sec1	G	A	7: 45,328,009 (GRCm39)	T346M	probably benign	Het
Sgk1	T	A	10: 21,758,558 (GRCm39)	N7K	probably damaging	Het
Slc39a12	A	T	2: 14,394,321 (GRCm39)	I64F	possibly damaging	Het
Spock3	A	G	8: 63,798,764 (GRCm39)	T259A	probably damaging	Het
Sypl1	A	T	12: 33,016,463 (GRCm39)		probably benign	Het
Teddm2	G	T	1: 153,726,767 (GRCm39)	Q36K	probably damaging	Het
Tlr1	A	G	5: 65,083,534 (GRCm39)	S348P	possibly damaging	Het
Ttll12	A	G	15: 83,466,559 (GRCm39)	F336S	probably damaging	Het
Ttll8	G	A	15: 88,798,818 (GRCm39)	P639L	probably benign	Het
Usp24	T	C	4: 106,244,681 (GRCm39)	V1212A	probably damaging	Het
Vcan	C	A	13: 89,838,615 (GRCm39)	G2310*	probably null	Het
Vmn2r104	A	T	17: 20,262,097 (GRCm39)	N344K	probably damaging	Het
Zfp281	A	G	1: 136,553,643 (GRCm39)	N207S	probably benign	Het
Zfp534	T	A	4: 147,760,439 (GRCm39)	M77L	probably benign	Het
Zfp819	G	A	7: 43,267,203 (GRCm39)	S562N	probably benign	Het
Zmym1	C	T	4: 126,944,623 (GRCm39)	C188Y	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
IGL03026:Kcnj8	APN	6	142,512,199 (GRCm39)	critical splice acceptor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CGAGGCGCTAATGATCATGCTC -3'
(R):5'- TTTCCGGAATCGCTAGGCTG -3'

Sequencing Primer
(F):5'- AATGATCATGCTCTTCCTCAGG -3'
(R):5'- CGCTAGGCTGTAGTAGTAGGCAC -3'

Posted On

2022-02-07