Mutagenetix > Incidental Mutation

Incidental Mutation 'R4730:Kcnk13'

358781

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

041990-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4730 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99930758-100028941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100027974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 350 (K350E)

Ref Sequence

ENSEMBL: ENSMUSP00000136882 (fasta)

Gene Model

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

AlphaFold

Q8R1P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000049788
AA Change: K350E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051846
Gene: ENSMUSG00000045404
AA Change: K350E

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: K350E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123916
Gene: ENSMUSG00000045404
AA Change: K350E

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: K350E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136882
Gene: ENSMUSG00000045404
AA Change: K350E

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

Meta Mutation Damage Score

0.0827

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (70/71)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff1	A	G	5: 103,990,939 (GRCm39)	Q963R	possibly damaging	Het
Arhgef28	C	T	13: 98,114,650 (GRCm39)	E645K	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Col4a2	A	G	8: 11,487,590 (GRCm39)	N964S	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Duox1	T	G	2: 122,164,312 (GRCm39)	L924R	probably damaging	Het
Edem2	T	C	2: 155,547,618 (GRCm39)	E398G	possibly damaging	Het
Engase	A	G	11: 118,373,748 (GRCm39)	N297D	probably damaging	Het
Esp4	A	C	17: 40,913,445 (GRCm39)	Y104S	unknown	Het
Esp4	C	A	17: 40,913,446 (GRCm39)	Y104*	probably null	Het
Fat1	A	T	8: 45,486,514 (GRCm39)	N3356I	probably damaging	Het
Gm3867	T	A	9: 36,168,550 (GRCm39)		noncoding transcript	Het
Gm6818	C	T	7: 38,101,918 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,762,693 (GRCm39)	*175W	probably null	Het
Gucy1b2	A	G	14: 62,645,208 (GRCm39)	V617A	probably damaging	Het
Gzmc	C	T	14: 56,469,089 (GRCm39)	C210Y	probably damaging	Het
Hmg20a	T	A	9: 56,374,703 (GRCm39)	S20T	possibly damaging	Het
Hs3st1	A	T	5: 39,772,148 (GRCm39)	L165*	probably null	Het
Ighv1-26	A	G	12: 114,752,409 (GRCm39)	I6T	probably benign	Het
Lin9	T	A	1: 180,493,416 (GRCm39)	L198*	probably null	Het
Lrfn5	C	T	12: 61,887,505 (GRCm39)	A431V	probably benign	Het
Lta	C	T	17: 35,423,065 (GRCm39)	R86Q	probably benign	Het
Map3k4	T	A	17: 12,467,861 (GRCm39)	I1058L	probably damaging	Het
Mtif2	T	A	11: 29,490,834 (GRCm39)	S513T	probably benign	Het
Muc4	C	T	16: 32,570,032 (GRCm39)	T364I	possibly damaging	Het
Nav1	C	A	1: 135,535,049 (GRCm39)		probably benign	Het
Nfrkb	T	C	9: 31,321,547 (GRCm39)	V748A	probably benign	Het
Obox6	A	T	7: 15,568,738 (GRCm39)	M46K	possibly damaging	Het
Or5g25	T	C	2: 85,478,336 (GRCm39)	T110A	probably benign	Het
Or5k1b	T	C	16: 58,581,105 (GRCm39)	I145V	probably benign	Het
Or5t17	C	T	2: 86,832,510 (GRCm39)	R66W	possibly damaging	Het
Or6c33	G	A	10: 129,853,416 (GRCm39)	R62Q	probably damaging	Het
Or9g19	G	T	2: 85,600,405 (GRCm39)	E87*	probably null	Het
P4htm	A	G	9: 108,456,971 (GRCm39)	V412A	possibly damaging	Het
Phb2	T	C	6: 124,690,086 (GRCm39)	S92P	probably damaging	Het
Phtf1	G	T	3: 103,894,751 (GRCm39)	R147L	probably damaging	Het
Pigk	C	T	3: 152,448,203 (GRCm39)	Q189*	probably null	Het
Plxnc1	G	A	10: 94,703,330 (GRCm39)		probably benign	Het
Prrx1	A	G	1: 163,140,182 (GRCm39)	V8A	probably benign	Het
Ptprg	G	A	14: 12,213,713 (GRCm38)	G252D	probably damaging	Het
Rnf4	G	T	5: 34,508,147 (GRCm39)	V134F	possibly damaging	Het
Scarf2	A	G	16: 17,620,877 (GRCm39)	T182A	probably damaging	Het
Setd1a	A	G	7: 127,396,502 (GRCm39)		probably benign	Het
Sgpp1	A	G	12: 75,781,713 (GRCm39)	F209L	probably benign	Het
Sh3d19	T	A	3: 86,024,171 (GRCm39)	S567T	possibly damaging	Het
Slc4a2	C	T	5: 24,639,878 (GRCm39)	R520W	probably damaging	Het
Slf1	T	C	13: 77,194,751 (GRCm39)	Q858R	probably damaging	Het
Slitrk3	G	T	3: 72,956,852 (GRCm39)	A640E	probably benign	Het
Smarca2	A	G	19: 26,608,073 (GRCm39)	Y44C	probably damaging	Het
Spon1	A	G	7: 113,632,306 (GRCm39)	E543G	possibly damaging	Het
Strn4	A	G	7: 16,562,719 (GRCm39)	Q286R	possibly damaging	Het
Suz12	T	C	11: 79,892,988 (GRCm39)		probably benign	Het
Syna	T	A	5: 134,587,440 (GRCm39)	E503V	probably damaging	Het
Syt14	C	T	1: 192,613,094 (GRCm39)	D569N	probably damaging	Het
Sytl2	A	G	7: 90,030,457 (GRCm39)		probably benign	Het
Tmprss11g	G	T	5: 86,637,091 (GRCm39)	S335*	probably null	Het
Tmprss11g	A	T	5: 86,637,092 (GRCm39)	S335T	probably damaging	Het
Trim66	A	G	7: 109,082,276 (GRCm39)	S226P	probably damaging	Het
Tubgcp3	T	C	8: 12,707,654 (GRCm39)	T112A	probably benign	Het
Ulk4	T	C	9: 121,092,791 (GRCm39)	S149G	probably benign	Het
Usp53	T	C	3: 122,756,582 (GRCm39)	D108G	probably null	Het
Vmn1r91	A	T	7: 19,835,695 (GRCm39)	T205S	possibly damaging	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
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
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'- TCCTGAGGAAACTGGATAGCG -3'
(R):5'- GCTTACCAGTGGTGTAACAGTG -3'

Sequencing Primer
(F):5'- AAACTGGATAGCGGGTGC -3'
(R):5'- ACCAGTGGTGTAACAGTGTCTTATTC -3'

Posted On

2015-11-11