Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02348:Kcnk7'

289396

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnk7

Ensembl Gene

ENSMUSG00000024936

Gene Name

potassium channel, subfamily K, member 7

Synonyms

Mlk3, 2310014G03Rik, Kcnk8, Knot

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02348

Quality Score

Status

Chromosome

Chromosomal Location

5754395-5757137 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 5756501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004156] [ENSMUST00000049295] [ENSMUST00000052448] [ENSMUST00000075606]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000004156

SMART Domains

Protein: ENSMUSP00000004156
Gene: ENSMUSG00000004054

Domain	Start	End	E-Value	Type
low complexity region	11	36	N/A	INTRINSIC
SH3	45	105	6.79e-19	SMART
TyrKc	118	377	6.83e-81	SMART
coiled coil region	398	444	N/A	INTRINSIC
low complexity region	467	476	N/A	INTRINSIC
low complexity region	593	610	N/A	INTRINSIC
low complexity region	614	632	N/A	INTRINSIC
low complexity region	676	697	N/A	INTRINSIC
low complexity region	759	778	N/A	INTRINSIC
low complexity region	786	805	N/A	INTRINSIC
low complexity region	809	820	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000049295

SMART Domains

Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	164	3.2e-24	PFAM
low complexity region	245	256	N/A	INTRINSIC
low complexity region	276	291	N/A	INTRINSIC
internal_repeat_1	442	821	1.71e-12	PROSPERO
internal_repeat_1	833	1197	1.71e-12	PROSPERO
CH	1212	1310	3.55e-16	SMART
low complexity region	1316	1331	N/A	INTRINSIC
low complexity region	1426	1449	N/A	INTRINSIC
low complexity region	1471	1484	N/A	INTRINSIC
low complexity region	1493	1547	N/A	INTRINSIC
DUF3585	1552	1696	6.7e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052448

SMART Domains

Protein: ENSMUSP00000051278
Gene: ENSMUSG00000024936

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Ion_trans_2	67	145	3.2e-14	PFAM
Pfam:Ion_trans_2	175	261	8.8e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075606

SMART Domains

Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	164	3.9e-25	PFAM
CH	268	366	3.55e-16	SMART
low complexity region	372	387	N/A	INTRINSIC
low complexity region	482	505	N/A	INTRINSIC
low complexity region	527	540	N/A	INTRINSIC
low complexity region	549	603	N/A	INTRINSIC
DUF3585	608	752	6.7e-59	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no significant alterations in volatile anesthetic sensitivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	G	A	10: 4,304,722 (GRCm39)	D511N	probably damaging	Het
Akt3	T	A	1: 176,886,952 (GRCm39)	D299V	probably damaging	Het
Arfgef3	G	A	10: 18,467,095 (GRCm39)	P2035L	probably benign	Het
Atp13a3	C	T	16: 30,170,046 (GRCm39)		probably null	Het
Capn9	C	A	8: 125,321,416 (GRCm39)	P151T	probably damaging	Het
Csrnp1	T	A	9: 119,801,709 (GRCm39)	D450V	probably damaging	Het
Ctrb1	C	T	8: 112,413,762 (GRCm39)	A201T	possibly damaging	Het
Erp27	T	C	6: 136,888,544 (GRCm39)	T145A	probably damaging	Het
Fads2b	T	C	2: 85,323,640 (GRCm39)	I298V	possibly damaging	Het
Fanca	A	T	8: 124,032,002 (GRCm39)	L256Q	probably damaging	Het
Fars2	G	A	13: 36,721,354 (GRCm39)	V433I	probably benign	Het
Fbxo9	T	A	9: 78,016,289 (GRCm39)	M1L	probably benign	Het
Fcnb	C	A	2: 27,974,842 (GRCm39)	V10F	possibly damaging	Het
Gad2	C	T	2: 22,519,405 (GRCm39)	H175Y	probably damaging	Het
Get4	G	A	5: 139,238,254 (GRCm39)	G12D	probably benign	Het
Gmpr2	T	A	14: 55,915,758 (GRCm39)	I312N	probably damaging	Het
Golm1	T	A	13: 59,786,191 (GRCm39)	M334L	probably benign	Het
Itgam	T	A	7: 127,715,472 (GRCm39)	F1054L	possibly damaging	Het
Kif3b	G	A	2: 153,158,813 (GRCm39)	A205T	probably damaging	Het
Macf1	C	T	4: 123,406,659 (GRCm39)	V276M	probably damaging	Het
Mdga2	T	A	12: 66,597,349 (GRCm39)	N715I	probably damaging	Het
Mfap5	T	A	6: 122,503,746 (GRCm39)	S103R	possibly damaging	Het
Nckap1	C	T	2: 80,348,326 (GRCm39)	V876M	probably damaging	Het
Ncor1	A	T	11: 62,224,485 (GRCm39)		probably benign	Het
Nfya	G	A	17: 48,700,304 (GRCm39)	Q122*	probably null	Het
Nup210l	G	A	3: 90,011,471 (GRCm39)		probably benign	Het
Or5h22	T	G	16: 58,895,312 (GRCm39)	I44L	probably damaging	Het
Pcdhb19	T	A	18: 37,631,861 (GRCm39)	L552Q	probably damaging	Het
Psmd2	T	A	16: 20,473,397 (GRCm39)	S153T	probably benign	Het
Ptpn4	T	C	1: 119,610,452 (GRCm39)	Y685C	probably damaging	Het
Rad54l2	T	C	9: 106,597,575 (GRCm39)	R144G	probably damaging	Het
S1pr4	A	C	10: 81,334,855 (GRCm39)	Y206*	probably null	Het
Slc39a14	A	G	14: 70,553,885 (GRCm39)		probably null	Het
Stx2	G	A	5: 129,065,894 (GRCm39)	A254V	probably damaging	Het
Sumf2	G	T	5: 129,888,711 (GRCm39)	G216C	probably damaging	Het
Tbc1d32	A	G	10: 56,100,715 (GRCm39)	S88P	probably benign	Het
Trem1	T	A	17: 48,539,824 (GRCm39)	M1K	probably null	Het
Trmt1l	T	C	1: 151,325,757 (GRCm39)	Y401H	probably damaging	Het
Ttc22	A	T	4: 106,480,135 (GRCm39)	M130L	probably damaging	Het
Wnk1	T	C	6: 119,940,289 (GRCm39)	E816G	probably damaging	Het
Wnt9b	C	T	11: 103,622,908 (GRCm39)	G165D	probably damaging	Het
Zscan21	A	G	5: 138,131,645 (GRCm39)	T390A	probably damaging	Het
Zswim7	G	T	11: 62,159,581 (GRCm39)	C85*	probably null	Het

Other mutations in Kcnk7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01843:Kcnk7	APN	19	5,756,230 (GRCm39)	missense	probably damaging	0.99
IGL03159:Kcnk7	APN	19	5,756,116 (GRCm39)	missense	probably damaging	1.00
R0025:Kcnk7	UTSW	19	5,757,042 (GRCm39)	makesense	probably null
R0739:Kcnk7	UTSW	19	5,754,830 (GRCm39)	splice site	probably null
R0855:Kcnk7	UTSW	19	5,756,103 (GRCm39)	missense	probably benign	0.02
R1506:Kcnk7	UTSW	19	5,756,140 (GRCm39)	missense	probably damaging	1.00
R1676:Kcnk7	UTSW	19	5,757,006 (GRCm39)	missense	probably benign	0.02
R1716:Kcnk7	UTSW	19	5,756,859 (GRCm39)	missense	probably damaging	1.00
R4619:Kcnk7	UTSW	19	5,756,463 (GRCm39)	missense	probably benign	0.00
R4715:Kcnk7	UTSW	19	5,756,281 (GRCm39)	missense	probably damaging	1.00
R5119:Kcnk7	UTSW	19	5,756,352 (GRCm39)	missense	probably benign	0.00
R7018:Kcnk7	UTSW	19	5,756,160 (GRCm39)	missense	probably damaging	1.00
R7136:Kcnk7	UTSW	19	5,756,104 (GRCm39)	missense	probably benign	0.02
R7224:Kcnk7	UTSW	19	5,756,805 (GRCm39)	missense	probably benign
R8458:Kcnk7	UTSW	19	5,754,407 (GRCm39)	unclassified	probably benign
R8832:Kcnk7	UTSW	19	5,754,736 (GRCm39)	missense	probably damaging	0.96
R8848:Kcnk7	UTSW	19	5,756,743 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16