Mutagenetix > Incidental Mutation

Incidental Mutation 'R6493:Kcnj8'

522844

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

044625-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6493 (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 142511773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 278 (Y278C)

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: Y278C

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

SMART Domains

Protein: ENSMUSP00000145440
Gene: ENSMUSG00000030247
AA Change: Y278C

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: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.3%

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
Abca5	T	A	11: 110,184,704 (GRCm39)	H934L	probably benign	Het
Abcb1b	G	A	5: 8,874,698 (GRCm39)	D453N	probably damaging	Het
Ampd3	A	G	7: 110,395,018 (GRCm39)		probably null	Het
Axdnd1	A	T	1: 156,208,383 (GRCm39)	I485N	probably damaging	Het
Bscl2	A	G	19: 8,817,138 (GRCm39)	D22G	probably damaging	Het
Ccdc96	A	G	5: 36,643,596 (GRCm39)	E534G	probably damaging	Het
Cdc42bpg	G	T	19: 6,368,485 (GRCm39)	G1061V	probably damaging	Het
Cers3	T	C	7: 66,393,468 (GRCm39)	Y26H	probably benign	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Daxx	T	A	17: 34,131,345 (GRCm39)		probably null	Het
Egf	T	C	3: 129,512,737 (GRCm39)		probably benign	Het
Eps15	A	G	4: 109,226,145 (GRCm39)	D629G	probably damaging	Het
Fancm	G	A	12: 65,144,262 (GRCm39)	A575T	probably benign	Het
Fat4	G	A	3: 38,945,036 (GRCm39)	D1310N	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Grxcr2	G	A	18: 42,131,766 (GRCm39)	P101L	possibly damaging	Het
Hsd17b12	A	T	2: 93,874,228 (GRCm39)	I225N	probably damaging	Het
Lama3	G	A	18: 12,615,205 (GRCm39)		probably null	Het
Lax1	C	T	1: 133,607,530 (GRCm39)	D404N	probably benign	Het
Lipg	T	C	18: 75,081,095 (GRCm39)	K329E	probably damaging	Het
Lysmd2	T	G	9: 75,542,984 (GRCm39)	L197R	probably damaging	Het
Maneal	A	T	4: 124,750,964 (GRCm39)	I264N	probably damaging	Het
Myh4	A	G	11: 67,149,455 (GRCm39)	N1729S	probably benign	Het
Myl2	A	G	5: 122,244,791 (GRCm39)	N154D	possibly damaging	Het
Nlrp9c	T	A	7: 26,081,812 (GRCm39)	D638V	probably damaging	Het
Notch1	T	C	2: 26,362,110 (GRCm39)	H74R	unknown	Het
Olfml3	A	T	3: 103,643,523 (GRCm39)	V286D	possibly damaging	Het
Or14c46	T	G	7: 85,918,090 (GRCm39)	K302N	probably benign	Het
Or4b12	G	A	2: 90,096,052 (GRCm39)	H241Y	probably damaging	Het
Or51a25	G	T	7: 102,373,287 (GRCm39)	R137S	possibly damaging	Het
Or51f23c-ps1	A	G	7: 102,431,603 (GRCm39)	K307E	probably benign	Het
Or8k41	T	C	2: 86,313,565 (GRCm39)	I174V	possibly damaging	Het
Parn	A	C	16: 13,474,789 (GRCm39)	F127V	probably damaging	Het
Pcdhac2	T	C	18: 37,277,758 (GRCm39)	V246A	probably damaging	Het
Plin2	G	A	4: 86,580,224 (GRCm39)	T90I	possibly damaging	Het
Podxl	C	T	6: 31,501,981 (GRCm39)	C326Y	probably damaging	Het
Pramel46	A	G	5: 95,418,684 (GRCm39)	L104P	probably damaging	Het
Prl8a8	T	A	13: 27,691,335 (GRCm39)	K223*	probably null	Het
Ptprh	T	G	7: 4,583,989 (GRCm39)	E201A	possibly damaging	Het
Rtn1	A	C	12: 72,355,103 (GRCm39)	V281G	probably damaging	Het
Scaf8	T	C	17: 3,221,394 (GRCm39)	S294P	unknown	Het
Shroom3	C	A	5: 93,089,420 (GRCm39)	N723K	probably benign	Het
Spata22	T	C	11: 73,244,572 (GRCm39)	*312R	probably null	Het
Stx7	T	C	10: 24,060,969 (GRCm39)		probably null	Het
Taar6	T	C	10: 23,861,021 (GRCm39)	D175G	probably benign	Het
Tbccd1	A	C	16: 22,641,216 (GRCm39)	L387R	probably damaging	Het
Tecpr1	T	C	5: 144,146,792 (GRCm39)	M525V	probably benign	Het
Tex10	A	T	4: 48,436,450 (GRCm39)	I756N	probably damaging	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Ttn	T	C	2: 76,572,341 (GRCm39)	E24438G	probably damaging	Het
Tut4	A	G	4: 108,384,002 (GRCm39)	K1053R	probably damaging	Het
Wdpcp	C	T	11: 21,661,631 (GRCm39)	T301I	possibly damaging	Het
Zbtb1	C	T	12: 76,433,247 (GRCm39)	T411I	probably benign	Het
Zzef1	G	A	11: 72,804,129 (GRCm39)	G2624R	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
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'- AGCCACTCTCACCGTGTTAC -3'
(R):5'- GAAGAGCATGATCATTAGCGCCTC -3'

Sequencing Primer
(F):5'- GGAATAGTCCACAGAGTACACGC -3'
(R):5'- TCGGTGCGCATCCAGGTG -3'

Posted On

2018-06-06