Mutagenetix > Incidental Mutation

Incidental Mutation 'R8031:Kcnk13'

617970

Institutional Source

Beutler Lab

Gene Symbol

Kcnk13

Ensembl Gene

ENSMUSG00000045404

Gene Name

potassium channel, subfamily K, member 13

Synonyms

THIK-1, F730021E22Rik, LOC380778, LOC381712

MMRRC Submission

067469-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99930758-100028941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99932438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 78 (Y78C)

Ref Sequence

ENSEMBL: ENSMUSP00000051846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049788] [ENSMUST00000160413] [ENSMUST00000177549]

AlphaFold

Q8R1P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000049788
AA Change: Y78C

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

SMART Domains

Protein: ENSMUSP00000051846
Gene: ENSMUSG00000045404
AA Change: Y78C

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
Pfam:Ion_trans_2	75	151	4.7e-18	PFAM
Pfam:Ion_trans_2	195	285	3.3e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160413
AA Change: Y78C

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

SMART Domains

Protein: ENSMUSP00000123916
Gene: ENSMUSG00000045404
AA Change: Y78C

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
Pfam:Ion_trans_2	74	151	6e-17	PFAM
Pfam:Ion_trans_2	195	285	7.9e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177549
AA Change: Y78C

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

SMART Domains

Protein: ENSMUSP00000136882
Gene: ENSMUSG00000045404
AA Change: Y78C

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
Pfam:Ion_trans_2	75	151	4.7e-18	PFAM
Pfam:Ion_trans_2	195	285	3.3e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous knockout reduces the surveillance activity of microglial cells in the brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,888,924 (GRCm39)		probably null	Het
Arhgdib	A	G	6: 136,901,274 (GRCm39)	Y152H	probably benign	Het
Atxn10	T	G	15: 85,277,594 (GRCm39)	S354A	probably benign	Het
Cacng6	T	C	7: 3,473,401 (GRCm39)	V75A	possibly damaging	Het
Cdc23	A	G	18: 34,784,741 (GRCm39)	V7A	unknown	Het
Cdc40	T	A	10: 40,728,512 (GRCm39)	E157D	probably benign	Het
Defa25	T	A	8: 21,575,253 (GRCm39)	N77K	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab3	T	C	11: 104,772,295 (GRCm39)	V2659A	possibly damaging	Het
Efcab6	T	C	15: 83,867,699 (GRCm39)	K260E	possibly damaging	Het
Eif4a3	T	C	11: 119,179,731 (GRCm39)	Y352C	probably damaging	Het
Erc2	A	T	14: 27,733,649 (GRCm39)	K566N	probably damaging	Het
Fam3b	A	C	16: 97,283,052 (GRCm39)	Y74*	probably null	Het
Flg2	T	A	3: 93,127,521 (GRCm39)	S2144R	unknown	Het
Fmo4	G	T	1: 162,626,421 (GRCm39)	S375*	probably null	Het
Fsip2	A	G	2: 82,817,235 (GRCm39)	T4323A	probably benign	Het
Gm16503	A	T	4: 147,625,767 (GRCm39)	H87L	unknown	Het
Hes7	C	T	11: 69,013,591 (GRCm39)	A150V	probably damaging	Het
Hk1	T	A	10: 62,132,478 (GRCm39)	N190I	probably benign	Het
Il17rc	A	G	6: 113,459,782 (GRCm39)	D576G	probably damaging	Het
Inhba	T	A	13: 16,200,860 (GRCm39)	S141T	possibly damaging	Het
Itga8	G	T	2: 12,160,297 (GRCm39)	D840E	probably benign	Het
Kazn	T	C	4: 141,881,862 (GRCm39)	E126G		Het
Kcnt1	C	A	2: 25,798,054 (GRCm39)		probably benign	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Myo9a	A	G	9: 59,687,374 (GRCm39)	K160E	probably benign	Het
Nlrp1b	T	C	11: 71,107,747 (GRCm39)	R585G	probably benign	Het
Ntrk2	T	C	13: 59,022,193 (GRCm39)	I416T	probably benign	Het
Or4c112	A	T	2: 88,853,972 (GRCm39)	I125N	probably damaging	Het
Or52h7	T	A	7: 104,214,316 (GRCm39)	I296N	probably damaging	Het
Or5k14	T	C	16: 58,693,054 (GRCm39)	N153S	probably benign	Het
Or8k33	G	A	2: 86,384,447 (GRCm39)	T7I	probably damaging	Het
P4ha3	A	G	7: 99,941,905 (GRCm39)	E106G	probably damaging	Het
Pcif1	A	G	2: 164,728,442 (GRCm39)	N233S	probably damaging	Het
Pgm2l1	C	A	7: 99,921,625 (GRCm39)	R619S	probably damaging	Het
Pkhd1l1	A	G	15: 44,376,230 (GRCm39)	Q964R	probably damaging	Het
Pla2g4a	T	A	1: 149,776,964 (GRCm39)	I89F	possibly damaging	Het
Ppp1cc	G	A	5: 122,312,151 (GRCm39)	A306T	probably benign	Het
Psmd4	T	C	3: 94,943,203 (GRCm39)	D67G	probably damaging	Het
Ptprt	G	A	2: 161,977,377 (GRCm39)	T307I	probably damaging	Het
Rnf213	C	A	11: 119,321,107 (GRCm39)	C1188*	probably null	Het
Ror2	C	T	13: 53,267,193 (GRCm39)	C426Y	probably damaging	Het
Sacs	C	T	14: 61,441,640 (GRCm39)	H1229Y	probably damaging	Het
Slc25a25	A	T	2: 32,311,517 (GRCm39)	L118Q	probably damaging	Het
Slc38a6	G	A	12: 73,397,377 (GRCm39)	A340T	probably benign	Het
Smarca5	A	T	8: 81,431,311 (GRCm39)	Y969N	probably damaging	Het
Sorbs1	C	A	19: 40,314,933 (GRCm39)	M626I	probably benign	Het
Spink5	T	A	18: 44,143,303 (GRCm39)	D753E	probably benign	Het
Taf1d	T	G	9: 15,221,695 (GRCm39)	I226S	probably damaging	Het
Tmem225	A	G	9: 40,060,689 (GRCm39)	I83V	possibly damaging	Het
Top2b	A	G	14: 16,412,986 (GRCm38)	D965G	probably damaging	Het
Traf3ip1	A	G	1: 91,429,141 (GRCm39)	K303E	probably damaging	Het
Ube2n	C	T	10: 95,377,244 (GRCm39)	R70C	probably benign	Het
Ubl7	C	T	9: 57,830,489 (GRCm39)	P312S	probably damaging	Het
Vmn1r34	A	T	6: 66,614,165 (GRCm39)	M191K	probably damaging	Het
Vmn2r103	C	T	17: 20,013,759 (GRCm39)	H184Y	probably benign	Het
Vmn2r104	T	C	17: 20,263,048 (GRCm39)	I138V	probably benign	Het
Vmn2r49	T	C	7: 9,720,408 (GRCm39)	E361G	possibly damaging	Het
Vmn2r78	T	C	7: 86,604,075 (GRCm39)	L751P	probably damaging	Het
Zc3h13	T	A	14: 75,568,070 (GRCm39)	I1121N	not run	Het
Zfp235	T	A	7: 23,841,114 (GRCm39)	V511E	probably benign	Het

Other mutations in Kcnk13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Kcnk13	APN	12	100,027,921 (GRCm39)	missense	probably benign	0.06
IGL01829:Kcnk13	APN	12	100,027,257 (GRCm39)	splice site	probably benign
IGL01940:Kcnk13	APN	12	100,027,683 (GRCm39)	missense	probably benign	0.01
IGL02549:Kcnk13	APN	12	100,028,010 (GRCm39)	nonsense	probably null
IGL03105:Kcnk13	APN	12	100,027,369 (GRCm39)	missense	probably damaging	1.00
R4730:Kcnk13	UTSW	12	100,027,974 (GRCm39)	missense	probably damaging	0.98
R4851:Kcnk13	UTSW	12	99,932,383 (GRCm39)	missense	probably damaging	0.98
R5284:Kcnk13	UTSW	12	100,027,548 (GRCm39)	missense	probably benign	0.01
R5411:Kcnk13	UTSW	12	100,027,510 (GRCm39)	missense	probably damaging	1.00
R6254:Kcnk13	UTSW	12	99,931,631 (GRCm39)	start gained	probably benign
R6836:Kcnk13	UTSW	12	100,027,948 (GRCm39)	missense	probably damaging	0.98
R6862:Kcnk13	UTSW	12	100,027,948 (GRCm39)	missense	probably damaging	0.98
R6863:Kcnk13	UTSW	12	100,027,948 (GRCm39)	missense	probably damaging	0.98
R6897:Kcnk13	UTSW	12	100,028,026 (GRCm39)	missense	probably benign	0.11
R7211:Kcnk13	UTSW	12	100,028,076 (GRCm39)	missense	probably damaging	0.96
R7438:Kcnk13	UTSW	12	100,027,985 (GRCm39)	missense	probably damaging	0.99
R8813:Kcnk13	UTSW	12	100,027,647 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnk13	UTSW	12	100,027,788 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TAAGGTCGGCAGAGCACATC -3'
(R):5'- AAAGGAATCCCGAGGTGCATC -3'

Sequencing Primer
(F):5'- AGCTGTCCTCCAGTGCCATG -3'
(R):5'- CAAGCGGAGAACCCCAAGG -3'

Posted On

2020-01-23