Mutagenetix > Incidental Mutation

Incidental Mutation 'R7068:Kcnj8'

548682

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

045164-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142510563-142517340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142511965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 214 (D214G)

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: D214G

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

SMART Domains

Protein: ENSMUSP00000145440
Gene: ENSMUSG00000030247
AA Change: D214G

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: 99.9%
10x: 99.6%
20x: 98.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,221,803 (GRCm39)	H24R	probably benign	Het
Ago2	A	T	15: 73,018,299 (GRCm39)	F46L	probably damaging	Het
Amd1	A	G	10: 40,166,508 (GRCm39)	F123L	probably benign	Het
Arhgef10	T	C	8: 15,008,639 (GRCm39)	F546L	probably damaging	Het
Asic2	G	A	11: 81,043,081 (GRCm39)	H71Y	probably benign	Het
Asphd1	A	G	7: 126,547,850 (GRCm39)	V151A	probably benign	Het
Best3	T	C	10: 116,824,543 (GRCm39)	V3A	probably damaging	Het
C4b	A	G	17: 34,952,451 (GRCm39)	L1196P	probably damaging	Het
Cd22	A	G	7: 30,577,504 (GRCm39)	V3A	probably benign	Het
Cdkl3	T	C	11: 51,902,154 (GRCm39)		probably null	Het
Clcnka	A	T	4: 141,114,421 (GRCm39)	V631E	probably damaging	Het
Cmya5	A	G	13: 93,229,205 (GRCm39)	V1961A	possibly damaging	Het
Dnah14	A	G	1: 181,597,355 (GRCm39)	E3559G	probably benign	Het
Emsy	A	T	7: 98,259,968 (GRCm39)	D39E	probably benign	Het
Fbxl16	G	T	17: 26,038,485 (GRCm39)	V477F	possibly damaging	Het
Flt1	A	T	5: 147,610,444 (GRCm39)	I393N	probably damaging	Het
Gabra4	A	T	5: 71,729,402 (GRCm39)	N433K	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Ghsr	T	A	3: 27,425,986 (GRCm39)	V14D	probably benign	Het
Glb1l	A	G	1: 75,179,381 (GRCm39)	Y183H	probably damaging	Het
Hycc1	A	G	5: 24,169,793 (GRCm39)	S519P	possibly damaging	Het
Ighv3-4	T	C	12: 114,217,274 (GRCm39)	T106A	probably damaging	Het
Ik	T	G	18: 36,888,518 (GRCm39)	F439V	possibly damaging	Het
Itih5	T	C	2: 10,254,115 (GRCm39)	S789P	probably damaging	Het
Kdm5a	C	A	6: 120,407,176 (GRCm39)	H1464N	probably benign	Het
Klb	A	T	5: 65,536,683 (GRCm39)	Y671F	probably damaging	Het
Kremen2	C	A	17: 23,960,859 (GRCm39)	R421L	possibly damaging	Het
Mroh9	T	A	1: 162,866,750 (GRCm39)	D662V	probably damaging	Het
Mtmr12	T	G	15: 12,257,756 (GRCm39)	M278R	probably null	Het
Ndufa8	T	C	2: 35,934,447 (GRCm39)	M44V	possibly damaging	Het
Nedd4l	A	T	18: 65,338,722 (GRCm39)	R695S	probably damaging	Het
Nuf2	G	A	1: 169,349,988 (GRCm39)	P97S	probably damaging	Het
Or14c46	A	C	7: 85,918,745 (GRCm39)	L84R	probably damaging	Het
Or2ah1	T	C	2: 85,653,396 (GRCm39)	V27A	probably benign	Het
Or5ac24	T	C	16: 59,165,567 (GRCm39)	T166A	possibly damaging	Het
P4ha2	A	G	11: 54,001,820 (GRCm39)	T33A	probably benign	Het
Parp1	A	G	1: 180,416,233 (GRCm39)	H544R	probably damaging	Het
Plec	A	G	15: 76,061,969 (GRCm39)	L2678P	probably damaging	Het
Rad1	T	A	15: 10,490,379 (GRCm39)	Y85*	probably null	Het
Sema6d	A	G	2: 124,499,741 (GRCm39)	I309V	probably benign	Het
Skint2	T	C	4: 112,481,548 (GRCm39)	V137A	probably damaging	Het
Slc23a3	T	C	1: 75,109,877 (GRCm39)	N130S	probably benign	Het
Slc35f1	T	C	10: 52,938,596 (GRCm39)	F176S	probably damaging	Het
Slc44a2	T	A	9: 21,232,144 (GRCm39)	Y10N	probably benign	Het
Smarcc1	A	G	9: 110,014,952 (GRCm39)	T506A	probably damaging	Het
Smchd1	A	T	17: 71,694,087 (GRCm39)	S1219R	probably benign	Het
Smco1	A	G	16: 32,092,929 (GRCm39)	N200S	probably benign	Het
Srcap	A	G	7: 127,141,115 (GRCm39)	T1571A	probably benign	Het
Strip2	C	T	6: 29,932,207 (GRCm39)	T459I	probably benign	Het
Tarbp1	C	T	8: 127,153,773 (GRCm39)	A1560T	probably damaging	Het
Tcl1b1	T	A	12: 105,125,952 (GRCm39)		probably benign	Het
Tdrd5	T	C	1: 156,111,841 (GRCm39)	E436G	probably damaging	Het
Trim31	T	A	17: 37,209,408 (GRCm39)	C55S	probably damaging	Het
Tsr1	G	T	11: 74,794,745 (GRCm39)	E467*	probably null	Het
Tulp4	T	A	17: 6,235,564 (GRCm39)	D178E	probably damaging	Het
Vmn1r30	A	G	6: 58,411,995 (GRCm39)	V279A	possibly damaging	Het
Vmn2r98	A	G	17: 19,285,575 (GRCm39)	R132G	probably benign	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
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'- CGTGGCAGATGATCAATGGG -3'
(R):5'- GAGGTTCAAGTGACCATTGGG -3'

Sequencing Primer
(F):5'- GGGCCACTAGGAAGATATTATTGCTC -3'
(R):5'- ATGATGACTGAGGAATGCCC -3'

Posted On

2019-05-13