Mutagenetix > Incidental Mutation

Incidental Mutation 'R8040:Kcnk4'

618495

Institutional Source

Beutler Lab

Gene Symbol

Kcnk4

Ensembl Gene

ENSMUSG00000024957

Gene Name

potassium channel, subfamily K, member 4

Synonyms

TRAAKt

MMRRC Submission

067477-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8040 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6903030-6912261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6904995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 219 (Y219H)

Ref Sequence

ENSEMBL: ENSMUSP00000025908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025908] [ENSMUST00000057716]

AlphaFold

O88454

Predicted Effect

probably damaging
Transcript: ENSMUST00000025908
AA Change: Y219H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025908
Gene: ENSMUSG00000024957
AA Change: Y219H

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	2	147	8.1e-9	PFAM
Pfam:Ion_trans_2	64	145	1.7e-21	PFAM
Pfam:Ion_trans_2	174	260	5.3e-22	PFAM
low complexity region	303	319	N/A	INTRINSIC
low complexity region	367	390	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000057716

SMART Domains

Protein: ENSMUSP00000056681
Gene: ENSMUSG00000050623

Domain	Start	End	E-Value	Type
low complexity region	104	118	N/A	INTRINSIC
low complexity region	137	146	N/A	INTRINSIC

Meta Mutation Damage Score

0.7290

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (47/47)

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 TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit normal sensitivity to pharmacologically induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,765,035 (GRCm39)	D675V	probably benign	Het
Adam21	T	C	12: 81,607,211 (GRCm39)	R184G	probably benign	Het
Adcy10	A	G	1: 165,379,593 (GRCm39)	K952E	probably damaging	Het
Allc	A	T	12: 28,605,351 (GRCm39)	I316N	probably damaging	Het
Ano8	T	C	8: 71,934,812 (GRCm39)	T432A	probably benign	Het
Cadps2	C	A	6: 23,412,942 (GRCm39)		probably benign	Het
Camsap2	T	C	1: 136,208,985 (GRCm39)	S168G		Het
Ccl19	T	C	4: 42,756,297 (GRCm39)	S12G	probably damaging	Het
Cfap91	A	G	16: 38,140,733 (GRCm39)	S407P	possibly damaging	Het
Cltc	A	G	11: 86,616,031 (GRCm39)	S412P	probably damaging	Het
Cwc25	A	G	11: 97,641,696 (GRCm39)		probably null	Het
Cxcr4	A	G	1: 128,517,535 (GRCm39)	F42S	probably damaging	Het
Cyp4a12a	A	G	4: 115,183,412 (GRCm39)	Q177R	probably benign	Het
Dnal4	T	C	15: 79,646,169 (GRCm39)	T112A	probably benign	Het
Dock9	C	A	14: 121,889,206 (GRCm39)	G304C	probably benign	Het
Evpl	T	C	11: 116,113,758 (GRCm39)	T1311A	probably damaging	Het
Fat4	T	C	3: 39,035,815 (GRCm39)	Y3156H	probably damaging	Het
Golgb1	A	G	16: 36,733,841 (GRCm39)	I1070M	possibly damaging	Het
Hcls1	A	G	16: 36,771,511 (GRCm39)	D139G	probably damaging	Het
Ighv1-7	A	G	12: 114,502,390 (GRCm39)	S26P	probably benign	Het
Il1r1	A	T	1: 40,352,509 (GRCm39)	T563S	probably benign	Het
Kcna1	C	T	6: 126,619,703 (GRCm39)	D206N	probably benign	Het
Kcnt2	G	A	1: 140,377,955 (GRCm39)	A403T	probably damaging	Het
Mdp1	T	A	14: 55,897,523 (GRCm39)	N44I	probably benign	Het
Nceh1	A	G	3: 27,295,374 (GRCm39)	N212D	probably benign	Het
Nynrin	G	A	14: 56,108,982 (GRCm39)	G1363D	probably benign	Het
Or5d20-ps1	T	A	2: 87,931,703 (GRCm39)	R209S	unknown	Het
Or6n1	T	C	1: 173,916,723 (GRCm39)	I39T	possibly damaging	Het
Or6x1	A	G	9: 40,098,717 (GRCm39)	H102R	probably damaging	Het
Or8d1	T	A	9: 38,766,460 (GRCm39)	I34N	probably damaging	Het
Parp2	T	A	14: 51,047,630 (GRCm39)	M47K	probably benign	Het
Pfdn6	T	C	17: 34,158,951 (GRCm39)		probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plb1	T	A	5: 32,430,413 (GRCm39)	H123Q	possibly damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Prodh2	A	G	7: 30,205,836 (GRCm39)	D238G	probably damaging	Het
Rad51ap2	T	A	12: 11,508,792 (GRCm39)	S905T	probably benign	Het
Sclt1	C	T	3: 41,611,811 (GRCm39)	R487H	probably damaging	Het
Serpina3b	A	G	12: 104,097,335 (GRCm39)	I205M	probably benign	Het
Sowahb	A	G	5: 93,191,292 (GRCm39)	S476P	possibly damaging	Het
Srgap3	C	T	6: 112,716,325 (GRCm39)	R625H	probably benign	Het
Tent4a	A	G	13: 69,648,600 (GRCm39)	Y719H	probably damaging	Het
Tnxb	T	C	17: 34,935,532 (GRCm39)	Y2611H	probably damaging	Het
Uggt1	T	C	1: 36,250,554 (GRCm39)	E237G	possibly damaging	Het
Vmn1r87	T	A	7: 12,866,086 (GRCm39)	Y67F	possibly damaging	Het
Vmn2r107	G	A	17: 20,595,808 (GRCm39)	C787Y	probably damaging	Het
Zscan4-ps3	T	A	7: 11,346,600 (GRCm39)	I212N	probably damaging	Het

Other mutations in Kcnk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01569:Kcnk4	APN	19	6,904,545 (GRCm39)	missense	probably damaging	1.00
IGL02047:Kcnk4	APN	19	6,903,626 (GRCm39)	missense	probably benign	0.00
IGL02726:Kcnk4	APN	19	6,904,457 (GRCm39)	critical splice donor site	probably null
R0149:Kcnk4	UTSW	19	6,903,562 (GRCm39)	missense	probably benign	0.08
R0617:Kcnk4	UTSW	19	6,905,528 (GRCm39)	unclassified	probably benign
R1392:Kcnk4	UTSW	19	6,905,031 (GRCm39)	missense	possibly damaging	0.80
R1392:Kcnk4	UTSW	19	6,905,031 (GRCm39)	missense	possibly damaging	0.80
R3017:Kcnk4	UTSW	19	6,905,162 (GRCm39)	missense	probably damaging	0.96
R4439:Kcnk4	UTSW	19	6,910,129 (GRCm39)	missense	probably benign	0.01
R4895:Kcnk4	UTSW	19	6,905,784 (GRCm39)	splice site	probably null
R5208:Kcnk4	UTSW	19	6,905,069 (GRCm39)	missense	possibly damaging	0.79
R5409:Kcnk4	UTSW	19	6,903,578 (GRCm39)	missense	probably benign	0.00
R5743:Kcnk4	UTSW	19	6,905,723 (GRCm39)	missense	possibly damaging	0.69
R6233:Kcnk4	UTSW	19	6,905,697 (GRCm39)	missense	probably benign	0.29
R6466:Kcnk4	UTSW	19	6,905,665 (GRCm39)	missense	probably damaging	1.00
R7358:Kcnk4	UTSW	19	6,903,478 (GRCm39)	missense	probably damaging	1.00
R8356:Kcnk4	UTSW	19	6,903,668 (GRCm39)	missense	probably benign
R8437:Kcnk4	UTSW	19	6,903,602 (GRCm39)	missense	probably benign	0.01
R8444:Kcnk4	UTSW	19	6,903,508 (GRCm39)	missense	probably damaging	1.00
R8805:Kcnk4	UTSW	19	6,905,379 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGGGACTCAGGCATGCAAG -3'
(R):5'- GAATTGTAGGTTACTGGCATCTCAATG -3'

Sequencing Primer
(F):5'- CTCAGGCATGCAAGATGTAAGTG -3'
(R):5'- GCATCTCAATGGCTCTATCTCC -3'

Posted On

2020-01-23