Mutagenetix > Incidental Mutation

Incidental Mutation 'R0927:Kcnj8'

80505

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

039074-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0927 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142510563-142517340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 142511627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 327 (I327L)

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

possibly damaging
Transcript: ENSMUST00000203945
AA Change: I327L

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145440
Gene: ENSMUSG00000030247
AA Change: I327L

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: 99.3%
3x: 98.7%
10x: 97.0%
20x: 93.7%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,607,317 (GRCm39)	L363P	probably damaging	Het
Adam12	T	A	7: 133,599,959 (GRCm39)	H85L	probably damaging	Het
Adam34	A	T	8: 44,104,621 (GRCm39)	H341Q	probably damaging	Het
Adam34l	A	T	8: 44,078,160 (GRCm39)	M688K	probably benign	Het
Adam7	A	G	14: 68,754,133 (GRCm39)	L322P	probably damaging	Het
Adcy5	T	A	16: 34,976,613 (GRCm39)	S49T	probably benign	Het
Arfgap2	T	C	2: 91,104,150 (GRCm39)	S374P	probably benign	Het
Arpp19	G	A	9: 74,944,967 (GRCm39)		probably benign	Het
Baz1a	T	C	12: 54,941,773 (GRCm39)	K1478E	probably damaging	Het
Cdc27	G	T	11: 104,396,467 (GRCm39)	A812E	possibly damaging	Het
Chtf8	G	A	8: 107,612,150 (GRCm39)	T263I	probably damaging	Het
Clcn6	T	C	4: 148,113,849 (GRCm39)	N70D	probably benign	Het
Cntnap5c	A	T	17: 58,349,553 (GRCm39)	T289S	possibly damaging	Het
Dzip3	T	C	16: 48,795,840 (GRCm39)	N177S	probably damaging	Het
Edar	G	T	10: 58,465,313 (GRCm39)		probably null	Het
Enam	T	A	5: 88,641,919 (GRCm39)	N244K	possibly damaging	Het
Fbxw10	A	G	11: 62,767,770 (GRCm39)	K874E	probably damaging	Het
Glra3	A	G	8: 56,578,239 (GRCm39)	E432G	possibly damaging	Het
Grin3b	G	A	10: 79,807,062 (GRCm39)	R110Q	probably benign	Het
Herc3	T	A	6: 58,845,748 (GRCm39)	V423D	possibly damaging	Het
Ifit2	A	T	19: 34,550,984 (GRCm39)	T175S	probably benign	Het
Kcns2	A	T	15: 34,839,242 (GRCm39)	I202F	probably benign	Het
Kif12	T	C	4: 63,087,010 (GRCm39)	R305G	possibly damaging	Het
Limch1	A	G	5: 67,154,576 (GRCm39)	D362G	probably damaging	Het
Lrba	T	C	3: 86,687,540 (GRCm39)	I2815T	probably damaging	Het
Lrrtm1	G	T	6: 77,221,843 (GRCm39)	M433I	probably damaging	Het
Myh7b	A	G	2: 155,462,040 (GRCm39)	D312G	probably damaging	Het
Nrxn1	A	T	17: 90,344,758 (GRCm39)	I382N	probably damaging	Het
Nudt6	C	T	3: 37,459,502 (GRCm39)	R161H	probably benign	Het
Or10w1	T	A	19: 13,631,816 (GRCm39)	W8R	probably damaging	Het
Or11g2	A	C	14: 50,856,044 (GRCm39)	M122L	possibly damaging	Het
Or4m1	A	T	14: 50,558,186 (GRCm39)	Y35*	probably null	Het
Or7e166	C	T	9: 19,624,945 (GRCm39)	A274V	probably benign	Het
Pmf1	A	T	3: 88,303,369 (GRCm39)	V64D	probably damaging	Het
Pomgnt1	T	A	4: 116,009,048 (GRCm39)	V29D	probably damaging	Het
Pramel22	T	A	4: 143,380,790 (GRCm39)	H411L	possibly damaging	Het
Pramel26	A	T	4: 143,539,378 (GRCm39)	D38E	probably benign	Het
Prex1	C	T	2: 166,428,457 (GRCm39)	A925T	probably benign	Het
Pus3	A	G	9: 35,476,327 (GRCm39)	Y72C	probably damaging	Het
Rnf20	T	C	4: 49,642,176 (GRCm39)	S247P	probably damaging	Het
Rnf213	T	A	11: 119,305,396 (GRCm39)	D542E	probably benign	Het
Sidt1	T	C	16: 44,063,895 (GRCm39)	D786G	probably benign	Het
Sirt6	A	T	10: 81,458,475 (GRCm39)	D219E	probably damaging	Het
Slc36a2	A	T	11: 55,072,411 (GRCm39)	I67N	probably damaging	Het
Slc47a1	A	G	11: 61,264,248 (GRCm39)	F57S	probably damaging	Het
Spg11	T	A	2: 121,924,968 (GRCm39)	T756S	probably damaging	Het
Sptbn1	C	A	11: 30,071,591 (GRCm39)	R1447L	probably damaging	Het
Tcf7l2	A	G	19: 55,907,387 (GRCm39)	M340V	probably damaging	Het
Thap1	T	C	8: 26,652,733 (GRCm39)	V157A	probably benign	Het
Ubash3b	G	A	9: 40,934,853 (GRCm39)	Q354*	probably null	Het
Ubtd1	G	A	19: 42,020,460 (GRCm39)	W68*	probably null	Het
Wdr64	G	T	1: 175,620,647 (GRCm39)	R793L	probably damaging	Het
Zbtb24	C	T	10: 41,327,432 (GRCm39)	T106I	probably benign	Het
Zbtb26	T	C	2: 37,326,337 (GRCm39)	N233S	possibly damaging	Het
Zcchc24	A	T	14: 25,757,585 (GRCm39)	N99K	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
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

Predicted Primers

PCR Primer
(F):5'- CTGATGGACACTGGTTTCCTTCTGG -3'
(R):5'- ACGTGATTGACAAGCGTAGCCC -3'

Sequencing Primer
(F):5'- TCTGGAGTCATGAACTGCAC -3'
(R):5'- AAGCGTAGCCCCCTGTATG -3'

Posted On

2013-11-07