Mutagenetix > Incidental Mutation

Incidental Mutation 'R8813:Kcnk13'

672572

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

068648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8813 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99930758-100028941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100027647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 241 (G241W)

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: G241W

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

SMART Domains

Protein: ENSMUSP00000051846
Gene: ENSMUSG00000045404
AA Change: G241W

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: G241W

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

SMART Domains

Protein: ENSMUSP00000123916
Gene: ENSMUSG00000045404
AA Change: G241W

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: G241W

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

SMART Domains

Protein: ENSMUSP00000136882
Gene: ENSMUSG00000045404
AA Change: G241W

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: 99.8%
20x: 99.5%

Validation Efficiency

96% (48/50)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	T	C	2: 122,482,622 (GRCm39)	L62P	probably damaging	Het
Amotl2	T	G	9: 102,607,291 (GRCm39)	S700A	probably damaging	Het
Ccdc7a	A	G	8: 129,549,942 (GRCm39)	S1259P	possibly damaging	Het
Cenpj	C	T	14: 56,790,355 (GRCm39)	E565K	probably damaging	Het
Clmp	C	T	9: 40,692,549 (GRCm39)	R273*	probably null	Het
Cops7b	A	T	1: 86,528,846 (GRCm39)	Q191L	probably benign	Het
Cyp2c23	A	G	19: 44,002,054 (GRCm39)	F312L	probably benign	Het
Dgkd	G	A	1: 87,843,266 (GRCm39)	C169Y	probably damaging	Het
Dlec1	A	T	9: 118,956,498 (GRCm39)	N724I	probably benign	Het
Dmxl1	T	C	18: 50,090,406 (GRCm39)	V2831A	probably damaging	Het
Dnah5	G	T	15: 28,229,719 (GRCm39)	G118W	probably damaging	Het
Dnah6	G	T	6: 73,104,937 (GRCm39)	T1884K	probably damaging	Het
Dnai4	T	C	4: 102,947,697 (GRCm39)	E193G	possibly damaging	Het
Efnb2	T	A	8: 8,670,731 (GRCm39)	S290C	probably damaging	Het
Eif1ad6	A	G	12: 87,668,593 (GRCm39)	D75G	probably damaging	Het
Eif2ak4	C	A	2: 118,278,806 (GRCm39)	T990K	probably damaging	Het
Erich3	A	G	3: 154,468,827 (GRCm39)	D1093G	unknown	Het
H2-DMa	T	C	17: 34,354,734 (GRCm39)		probably benign	Het
Habp2	G	A	19: 56,295,216 (GRCm39)	D36N	probably benign	Het
Kdm6b	GGGTGGTGGTGGTGGTGG	GGGTGGTGGTGGTGGTGGTGG	11: 69,297,655 (GRCm39)		probably benign	Het
Kdm6b	TGG	TGGGGG	11: 69,297,658 (GRCm39)		probably benign	Het
Klk1b5	G	T	7: 43,496,549 (GRCm39)	M160I	probably benign	Het
Lonp2	A	G	8: 87,358,073 (GRCm39)	Y98C	probably damaging	Het
Marcksl1	C	T	4: 129,408,999 (GRCm39)	P193S	probably benign	Het
Nup133	AAGAGA	AAGA	8: 124,638,627 (GRCm39)	900	probably null	Het
Nxf7	G	A	X: 134,484,515 (GRCm39)	R513C	possibly damaging	Het
Or13a19	C	A	7: 139,902,793 (GRCm39)	Y60*	probably null	Het
Or4a73	A	T	2: 89,420,730 (GRCm39)	M243K	probably benign	Het
Or52e5	T	A	7: 104,719,518 (GRCm39)	Y281*	probably null	Het
Or7g32	T	G	9: 19,389,477 (GRCm39)	D23A	possibly damaging	Het
Or7g34	A	T	9: 19,477,895 (GRCm39)	Y262N	probably damaging	Het
Otof	T	A	5: 30,540,242 (GRCm39)	M965L	probably benign	Het
Parp12	A	G	6: 39,073,508 (GRCm39)	F439S	probably damaging	Het
Pde1a	G	A	2: 79,959,261 (GRCm39)		probably benign	Het
Pramel22	T	A	4: 143,380,913 (GRCm39)	N370I	probably damaging	Het
Prrc2c	T	C	1: 162,532,812 (GRCm39)	N1268D	unknown	Het
Pter	T	C	2: 12,985,114 (GRCm39)	V148A	probably benign	Het
Rb1	A	G	14: 73,500,027 (GRCm39)	M540T	probably damaging	Het
Rnasel	T	A	1: 153,629,641 (GRCm39)	N52K	probably damaging	Het
Rragd	A	T	4: 33,012,953 (GRCm39)	I317F	possibly damaging	Het
Sla	G	T	15: 66,664,127 (GRCm39)	S81R	probably benign	Het
T	A	G	17: 8,653,532 (GRCm39)	E57G	probably benign	Het
Tanc1	T	A	2: 59,630,265 (GRCm39)	F748L	probably damaging	Het
Tnxb	T	A	17: 34,938,136 (GRCm39)	W3073R	probably damaging	Het
Trim33	A	G	3: 103,254,052 (GRCm39)	T967A	probably benign	Het
Tro	G	A	X: 149,438,555 (GRCm39)	S34L	unknown	Het
Trpm1	T	A	7: 63,851,756 (GRCm39)	M158K	possibly damaging	Het
Vmn1r205	A	G	13: 22,776,424 (GRCm39)	L226P	probably benign	Het
Vmn1r56	C	T	7: 5,198,733 (GRCm39)	V295M	probably damaging	Het
Vps13c	A	G	9: 67,778,566 (GRCm39)	D208G	probably damaging	Het
Zfp11	T	C	5: 129,735,278 (GRCm39)	D61G	probably benign	Het
Zscan4e	C	A	7: 11,041,540 (GRCm39)	E139*	probably null	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
R8031:Kcnk13	UTSW	12	99,932,438 (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'- AGGACAACATGAAGGCTCCTG -3'
(R):5'- AGGAGTCCTCTTTGGCATGG -3'

Sequencing Primer
(F):5'- CAACATGAAGGCTCCTGAAAAG -3'
(R):5'- CTTTGGCATGGTGGGAAGCAC -3'

Posted On

2021-04-30