Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:Kcnj8'

188413

Institutional Source

Beutler Lab

Gene Symbol

Kcnj8

Ensembl Gene

ENSMUSG00000030247

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 8

Synonyms

Kir6.1, sltr, gnite, slmbr

MMRRC Submission

039716-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142564837-142571614 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 142570189 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 64 (L64*)

Ref Sequence

ENSEMBL: ENSMUSP00000145440 (fasta)

Gene Model

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

AlphaFold

P97794

Predicted Effect

probably null
Transcript: ENSMUST00000032374
AA Change: L64*

SMART Domains

Protein: ENSMUSP00000032374
Gene: ENSMUSG00000030247
AA Change: L64*

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 null
Transcript: ENSMUST00000203945
AA Change: L64*

SMART Domains

Protein: ENSMUSP00000145440
Gene: ENSMUSG00000030247
AA Change: L64*

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528 (GRCm38)	P187R	probably damaging	Het
Ahnak	T	A	19: 9,009,963 (GRCm38)	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,347,651 (GRCm38)	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,278,954 (GRCm38)	D827V	probably damaging	Het
Bcat1	T	G	6: 145,039,628 (GRCm38)	D96A	probably damaging	Het
Birc6	A	T	17: 74,548,746 (GRCm38)	I184L	probably benign	Het
Ccdc129	C	T	6: 55,968,766 (GRCm38)	T824I	probably damaging	Het
Clca3b	A	T	3: 144,837,824 (GRCm38)	L415M	probably damaging	Het
Clstn1	T	C	4: 149,643,726 (GRCm38)	V617A	probably benign	Het
Col22a1	G	A	15: 71,799,361 (GRCm38)	A1050V	unknown	Het
Col5a3	C	T	9: 20,784,668 (GRCm38)		probably null	Het
Csmd3	G	A	15: 47,741,170 (GRCm38)	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,805,639 (GRCm38)	R503Q	possibly damaging	Het
Dnm3	A	G	1: 162,010,976 (GRCm38)	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,873,361 (GRCm38)	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,190,103 (GRCm38)	Y710H	probably benign	Het
Eef1a2	A	T	2: 181,152,941 (GRCm38)	M155K	possibly damaging	Het
Entpd8	G	A	2: 25,084,024 (GRCm38)	C331Y	probably damaging	Het
Erc1	A	C	6: 119,575,761 (GRCm38)	L1072R	probably damaging	Het
Fam160b2	T	C	14: 70,586,851 (GRCm38)	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,173,868 (GRCm38)	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,722,493 (GRCm38)	S617P	probably damaging	Het
Ice1	T	C	13: 70,605,448 (GRCm38)	R840G	probably benign	Het
Il1rl2	T	C	1: 40,351,793 (GRCm38)	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,621,162 (GRCm38)		probably null	Het
Ireb2	C	T	9: 54,881,518 (GRCm38)	T92I	probably damaging	Het
Mapk8ip3	A	G	17: 24,901,011 (GRCm38)	V983A	probably damaging	Het
Mertk	A	G	2: 128,801,636 (GRCm38)	D985G	probably benign	Het
Mical3	A	T	6: 120,959,643 (GRCm38)	S1307R	probably benign	Het
Ncaph2	A	G	15: 89,364,622 (GRCm38)	D222G	probably benign	Het
Nf1	C	A	11: 79,550,998 (GRCm38)	S295*	probably null	Het
Nlrp12	T	A	7: 3,241,174 (GRCm38)	D236V	probably damaging	Het
Npnt	A	G	3: 132,906,802 (GRCm38)	V74A	probably benign	Het
Oasl1	A	G	5: 114,935,944 (GRCm38)	D304G	probably damaging	Het
Olfr1098	C	T	2: 86,923,161 (GRCm38)	V124I	probably benign	Het
Olfr556	A	G	7: 102,670,733 (GRCm38)	D271G	possibly damaging	Het
Olfr834	A	G	9: 18,988,516 (GRCm38)	H176R	possibly damaging	Het
Olfr936	T	C	9: 39,047,000 (GRCm38)	I140V	probably benign	Het
Patz1	A	G	11: 3,307,812 (GRCm38)	K604E	probably damaging	Het
Pcsk6	T	A	7: 66,035,250 (GRCm38)	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,277,750 (GRCm38)		probably null	Het
Plxnc1	A	C	10: 94,841,551 (GRCm38)	L938R	probably benign	Het
Pou4f2	G	T	8: 78,434,831 (GRCm38)	A381D	probably damaging	Het
Prdm4	A	G	10: 85,899,223 (GRCm38)	L685P	possibly damaging	Het
Pxn	T	A	5: 115,552,147 (GRCm38)	V383E	probably damaging	Het
Rbl1	A	G	2: 157,174,783 (GRCm38)	L632P	probably damaging	Het
Rnf135	T	A	11: 80,196,881 (GRCm38)	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,791,436 (GRCm38)	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,838,646 (GRCm38)		silent	Het
Slc5a6	A	G	5: 31,042,644 (GRCm38)	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,418,080 (GRCm38)	I492T	probably damaging	Het
Soga3	A	T	10: 29,196,839 (GRCm38)	Q709L	probably damaging	Het
Spag5	A	G	11: 78,320,616 (GRCm38)	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,159,371 (GRCm38)	I75L	possibly damaging	Het
Syngap1	T	C	17: 26,952,579 (GRCm38)	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,605 (GRCm38)	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840 (GRCm38)	V102A	probably benign	Het
Tomm70a	T	C	16: 57,121,961 (GRCm38)	S34P	unknown	Het
Txlnb	G	T	10: 17,843,233 (GRCm38)	G604V	probably benign	Het
Ube2q1	A	G	3: 89,776,176 (GRCm38)	T143A	probably benign	Het
Unc80	C	T	1: 66,503,669 (GRCm38)	R361*	probably null	Het
Vcan	T	C	13: 89,703,547 (GRCm38)	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,835,381 (GRCm38)	T116S	probably damaging	Het
Wdr81	C	T	11: 75,454,423 (GRCm38)	R6K	probably benign	Het
Zan	T	A	5: 137,403,050 (GRCm38)	T4136S	unknown	Het
Zbtb14	C	A	17: 69,388,502 (GRCm38)	F398L	probably damaging	Het
Zfp606	A	T	7: 12,493,971 (GRCm38)	H615L	probably damaging	Het
Zp3r	A	T	1: 130,582,880 (GRCm38)	N433K	probably benign	Het

Other mutations in Kcnj8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Kcnj8	APN	6	142,570,235 (GRCm38)	missense	probably damaging	1.00
IGL02303:Kcnj8	APN	6	142,570,111 (GRCm38)	missense	probably benign	0.01
IGL03026:Kcnj8	APN	6	142,566,473 (GRCm38)	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	142,565,927 (GRCm38)	missense	probably damaging	1.00
R0278:Kcnj8	UTSW	6	142,570,348 (GRCm38)	missense	probably benign	0.12
R0927:Kcnj8	UTSW	6	142,565,901 (GRCm38)	missense	possibly damaging	0.82
R1864:Kcnj8	UTSW	6	142,570,240 (GRCm38)	missense	probably damaging	1.00
R1865:Kcnj8	UTSW	6	142,570,240 (GRCm38)	missense	probably damaging	1.00
R2087:Kcnj8	UTSW	6	142,565,696 (GRCm38)	missense	probably benign	0.02
R4900:Kcnj8	UTSW	6	142,566,495 (GRCm38)	missense	probably damaging	1.00
R5863:Kcnj8	UTSW	6	142,565,688 (GRCm38)	missense	probably benign	0.02
R6493:Kcnj8	UTSW	6	142,566,047 (GRCm38)	missense	probably damaging	1.00
R6598:Kcnj8	UTSW	6	142,570,233 (GRCm38)	missense	probably damaging	1.00
R7068:Kcnj8	UTSW	6	142,566,239 (GRCm38)	missense	probably damaging	1.00
R7587:Kcnj8	UTSW	6	142,566,339 (GRCm38)	missense	probably damaging	1.00
R7698:Kcnj8	UTSW	6	142,565,753 (GRCm38)	missense	probably damaging	1.00
R7908:Kcnj8	UTSW	6	142,566,029 (GRCm38)	missense	probably benign	0.44
R9199:Kcnj8	UTSW	6	142,566,392 (GRCm38)	missense	probably damaging	1.00
R9757:Kcnj8	UTSW	6	142,570,079 (GRCm38)	missense	probably benign	0.00
X0018:Kcnj8	UTSW	6	142,565,914 (GRCm38)	missense	probably benign	0.17
X0020:Kcnj8	UTSW	6	142,565,914 (GRCm38)	missense	probably benign	0.17
X0026:Kcnj8	UTSW	6	142,565,914 (GRCm38)	missense	probably benign	0.17
X0027:Kcnj8	UTSW	6	142,565,914 (GRCm38)	missense	probably benign	0.17
X0061:Kcnj8	UTSW	6	142,570,120 (GRCm38)	missense	probably damaging	1.00
X0065:Kcnj8	UTSW	6	142,565,914 (GRCm38)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TTCTGAACTGCCCAATGAAGACCC -3'
(R):5'- AGAGCATCATCCCGGAGGAGTATG -3'

Sequencing Primer
(F):5'- TTACCTGACATTGGTCACACAG -3'
(R):5'- CAAGAGCGGAGCCTGCAA -3'

Posted On

2014-05-09