Mutagenetix > Incidental Mutation

Incidental Mutation 'R4116:Kcnk12'

314659

Institutional Source

Beutler Lab

Gene Symbol

Kcnk12

Ensembl Gene

ENSMUSG00000050138

Gene Name

potassium channel, subfamily K, member 12

Synonyms

mntk1

MMRRC Submission

040859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R4116 (G1)

Quality Score

149

Status

Not validated

Chromosome

Chromosomal Location

88053229-88105422 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GGCATCGC to GGCATCGCATCGC at 88053584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000053595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055221]

AlphaFold

Q76M80

Predicted Effect

probably null
Transcript: ENSMUST00000055221

SMART Domains

Protein: ENSMUSP00000053595
Gene: ENSMUSG00000050138

Domain	Start	End	E-Value	Type
low complexity region	2	30	N/A	INTRINSIC
Pfam:Ion_trans_2	94	170	5e-16	PFAM
Pfam:Ion_trans_2	220	304	3.1e-18	PFAM
low complexity region	340	350	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the members 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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,634,817 (GRCm39)	F395L	possibly damaging	Het
Amigo1	C	T	3: 108,095,761 (GRCm39)	T420I	probably damaging	Het
Ankrd34c	A	G	9: 89,611,927 (GRCm39)	L138P	probably damaging	Het
Cald1	C	T	6: 34,722,654 (GRCm39)	R107C	probably damaging	Het
Cast	C	T	13: 74,872,956 (GRCm39)	E444K	probably damaging	Het
Ccdc121rt2	A	G	5: 112,598,377 (GRCm39)	E308G	probably damaging	Het
Crybg1	T	G	10: 43,875,158 (GRCm39)	N650T	possibly damaging	Het
Cyp19a1	T	A	9: 54,076,025 (GRCm39)	R276S	possibly damaging	Het
Cyp2c66	A	G	19: 39,165,003 (GRCm39)	D328G	possibly damaging	Het
Hectd1	A	T	12: 51,815,506 (GRCm39)	L1527*	probably null	Het
Hoxd13	C	A	2: 74,498,832 (GRCm39)	A60E	possibly damaging	Het
Igkv3-7	G	T	6: 70,584,923 (GRCm39)	G88C	probably damaging	Het
Klhl30	C	A	1: 91,281,830 (GRCm39)	Q144K	probably benign	Het
Kprp	A	T	3: 92,731,275 (GRCm39)	S592T	probably damaging	Het
Man2c1	T	C	9: 57,047,589 (GRCm39)		probably null	Het
Mbtps1	A	T	8: 120,268,391 (GRCm39)	M260K	probably benign	Het
Morc3	G	A	16: 93,670,227 (GRCm39)	D801N	probably benign	Het
Mpped1	A	G	15: 83,680,910 (GRCm39)		probably benign	Het
Mtcl1	T	C	17: 66,673,476 (GRCm39)	T767A	probably benign	Het
Nek5	G	A	8: 22,601,178 (GRCm39)	T181M	probably damaging	Het
Nomo1	T	C	7: 45,683,320 (GRCm39)	I22T	probably benign	Het
Or7g27	T	G	9: 19,249,940 (GRCm39)	F61L	probably benign	Het
Plin4	A	G	17: 56,409,113 (GRCm39)	V1369A	probably benign	Het
Polr3c	A	T	3: 96,622,560 (GRCm39)	F365Y	probably damaging	Het
Sec22a	A	G	16: 35,139,202 (GRCm39)	F232S	probably damaging	Het
Sema4f	G	A	6: 82,894,887 (GRCm39)	T436M	probably benign	Het
Sf3a2	A	G	10: 80,637,175 (GRCm39)	T37A	probably damaging	Het
Slc1a6	A	G	10: 78,623,723 (GRCm39)	M41V	probably benign	Het
Sptbn4	C	T	7: 27,090,995 (GRCm39)	E1399K	probably damaging	Het
Sspo	T	C	6: 48,433,928 (GRCm39)	L911P	probably damaging	Het
Sult2a2	A	T	7: 13,468,708 (GRCm39)	Q58L	probably benign	Het
Syne2	A	T	12: 75,977,853 (GRCm39)	I1433F	probably damaging	Het
Synm	C	T	7: 67,384,405 (GRCm39)	V644I	possibly damaging	Het
Tbc1d5	A	G	17: 51,227,615 (GRCm39)	L210P	probably damaging	Het
Trak1	T	C	9: 121,277,909 (GRCm39)	Y229H	probably damaging	Het
Unc5b	G	T	10: 60,610,479 (GRCm39)	T446K	probably damaging	Het
Wdr95	C	A	5: 149,521,040 (GRCm39)	D604E	probably benign	Het
Zfp773	AGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGC	7: 7,136,092 (GRCm39)		probably benign	Het

Other mutations in Kcnk12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Kcnk12	APN	17	88,054,195 (GRCm39)	missense	probably damaging	0.99
IGL01611:Kcnk12	APN	17	88,104,495 (GRCm39)	missense	probably benign	0.08
kiskadee	UTSW	17	88,054,164 (GRCm39)	missense	probably damaging	1.00
R1295:Kcnk12	UTSW	17	88,053,801 (GRCm39)	missense	probably damaging	1.00
R1672:Kcnk12	UTSW	17	88,053,747 (GRCm39)	missense	probably benign	0.16
R1806:Kcnk12	UTSW	17	88,053,537 (GRCm39)	missense	probably benign	0.34
R1807:Kcnk12	UTSW	17	88,053,468 (GRCm39)	missense	probably benign	0.04
R1873:Kcnk12	UTSW	17	88,053,499 (GRCm39)	missense	probably damaging	1.00
R1972:Kcnk12	UTSW	17	88,104,560 (GRCm39)	missense	possibly damaging	0.50
R5202:Kcnk12	UTSW	17	88,054,033 (GRCm39)	nonsense	probably null
R5888:Kcnk12	UTSW	17	88,054,077 (GRCm39)	missense	probably benign	0.00
R6017:Kcnk12	UTSW	17	88,054,164 (GRCm39)	missense	probably damaging	1.00
R7544:Kcnk12	UTSW	17	88,053,493 (GRCm39)	missense	possibly damaging	0.94
R8298:Kcnk12	UTSW	17	88,104,713 (GRCm39)	missense	probably damaging	1.00
R8796:Kcnk12	UTSW	17	88,054,020 (GRCm39)	missense	probably damaging	1.00
R9233:Kcnk12	UTSW	17	88,053,538 (GRCm39)	missense	probably benign	0.09
R9420:Kcnk12	UTSW	17	88,104,507 (GRCm39)	missense	possibly damaging	0.83
R9436:Kcnk12	UTSW	17	88,104,880 (GRCm39)	start codon destroyed	probably null
R9476:Kcnk12	UTSW	17	88,054,122 (GRCm39)	missense	probably benign	0.09
R9510:Kcnk12	UTSW	17	88,054,122 (GRCm39)	missense	probably benign	0.09
Z1177:Kcnk12	UTSW	17	88,053,471 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- ATTAAGAAAGCGCCATCTCGG -3'
(R):5'- CATCCTCATCAAGCAGGTGC -3'

Sequencing Primer
(F):5'- TGTTCATGATGCCCAGCG -3'
(R):5'- TGCTCAACTGGATGCTGC -3'

Posted On

2015-05-14