Mutagenetix > Incidental Mutation

Incidental Mutation 'R8437:Kcnk4'

654073

Institutional Source

Beutler Lab

Gene Symbol

Kcnk4

Ensembl Gene

ENSMUSG00000024957

Gene Name

potassium channel, subfamily K, member 4

Synonyms

TRAAKt

MMRRC Submission

067901-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6903030-6912261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6903602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 316 (V316I)

Ref Sequence

ENSEMBL: ENSMUSP00000025908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025906] [ENSMUST00000025908] [ENSMUST00000057716] [ENSMUST00000173635]

AlphaFold

O88454

Predicted Effect

probably benign
Transcript: ENSMUST00000025906

SMART Domains

Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955

Domain	Start	End	E-Value	Type
internal_repeat_1	5	21	6.74e-5	PROSPERO
low complexity region	52	67	N/A	INTRINSIC
ZnF_C4	76	147	2.16e-40	SMART
low complexity region	169	187	N/A	INTRINSIC
internal_repeat_1	202	218	6.74e-5	PROSPERO
HOLI	229	391	9.21e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000025908
AA Change: V316I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000025908
Gene: ENSMUSG00000024957
AA Change: V316I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173635

SMART Domains

Protein: ENSMUSP00000134587
Gene: ENSMUSG00000024955

Domain	Start	End	E-Value	Type
PDB:1LO1\|A	1	21	6e-7	PDB
low complexity region	26	44	N/A	INTRINSIC
Pfam:Hormone_recep	65	158	4.7e-18	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

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

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 78,998,178 (GRCm39)	Y237H	probably damaging	Het
Adprh	T	C	16: 38,266,449 (GRCm39)	E231G	probably benign	Het
Anks6	T	C	4: 47,030,705 (GRCm39)	S631G	probably benign	Het
Bpifa5	T	A	2: 154,007,526 (GRCm39)	L156H	probably damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
C8b	T	C	4: 104,644,040 (GRCm39)	Y236H	probably damaging	Het
Celf2	C	T	2: 6,551,956 (GRCm39)	G508S	probably damaging	Het
Clca3a1	T	C	3: 144,710,822 (GRCm39)	T794A	probably benign	Het
Col27a1	T	A	4: 63,237,701 (GRCm39)		probably benign	Het
Cyp2j12	C	T	4: 95,987,899 (GRCm39)	C497Y	probably damaging	Het
Dnmt3l	T	C	10: 77,888,602 (GRCm39)	I168T	possibly damaging	Het
Dtna	C	T	18: 23,723,398 (GRCm39)	Q201*	probably null	Het
Fetub	T	C	16: 22,752,985 (GRCm39)	S146P	possibly damaging	Het
Gak	T	G	5: 108,757,272 (GRCm39)	E242D	probably benign	Het
Gfpt2	T	A	11: 49,695,694 (GRCm39)		probably benign	Het
Ginm1	C	T	10: 7,646,130 (GRCm39)	C290Y	probably benign	Het
Hepacam	T	C	9: 37,296,006 (GRCm39)	S386P	probably damaging	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hnrnpa3	T	G	2: 75,493,019 (GRCm39)	S220A	unknown	Het
Hydin	A	G	8: 111,189,367 (GRCm39)	E1257G	probably damaging	Het
Ier3ip1	C	T	18: 77,017,874 (GRCm39)	A18V	probably damaging	Het
Ift140	T	A	17: 25,313,651 (GRCm39)	C1361S	probably damaging	Het
Il16	T	C	7: 83,301,351 (GRCm39)	Q955R	probably damaging	Het
Itpr3	T	G	17: 27,326,277 (GRCm39)	M1349R	probably damaging	Het
Marchf6	A	G	15: 31,482,695 (GRCm39)	I501T	possibly damaging	Het
Msl2	T	A	9: 100,978,167 (GRCm39)	S180R	probably benign	Het
Muc16	C	T	9: 18,569,220 (GRCm39)	V1100I	unknown	Het
Nbas	T	C	12: 13,616,251 (GRCm39)	V2263A	possibly damaging	Het
Or6b2	C	T	1: 92,408,187 (GRCm39)	S52N	probably benign	Het
Or7g33	C	T	9: 19,448,833 (GRCm39)	R131H	probably benign	Het
Pdilt	T	G	7: 119,114,109 (GRCm39)	I130L	possibly damaging	Het
Phldb3	A	G	7: 24,328,375 (GRCm39)	T640A	probably damaging	Het
Pole2	G	C	12: 69,250,961 (GRCm39)	Y467*	probably null	Het
Pxdn	C	T	12: 30,052,043 (GRCm39)	T740M	probably damaging	Het
Rabac1	T	C	7: 24,671,672 (GRCm39)	I83V	probably damaging	Het
Rrp7a	T	C	15: 83,001,773 (GRCm39)	Q245R	probably damaging	Het
Sae1	A	G	7: 16,104,279 (GRCm39)	V110A	probably damaging	Het
Sema3c	G	T	5: 17,867,936 (GRCm39)	V116F	probably damaging	Het
Serpina3i	A	G	12: 104,231,963 (GRCm39)	Y200C	probably damaging	Het
Slc25a45	C	T	19: 5,930,135 (GRCm39)	T35M	probably benign	Het
Speer4b	C	T	5: 27,703,818 (GRCm39)	R107Q	probably benign	Het
Sycp2	T	C	2: 178,006,651 (GRCm39)	T843A	probably damaging	Het
Tecta	T	A	9: 42,243,856 (GRCm39)	I2004F	probably damaging	Het
Tma16	T	C	8: 66,929,448 (GRCm39)	D182G	possibly damaging	Het
Topaz1	T	A	9: 122,610,427 (GRCm39)	Y1167*	probably null	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Usp25	A	G	16: 76,830,800 (GRCm39)	T19A	probably damaging	Het
Vpreb1b	G	A	16: 17,798,753 (GRCm39)	G80S	probably damaging	Het
Wdfy4	A	G	14: 32,798,332 (GRCm39)	C2025R		Het
Zyg11a	T	A	4: 108,075,103 (GRCm39)	H6L	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
R8040:Kcnk4	UTSW	19	6,904,995 (GRCm39)	missense	probably damaging	1.00
R8356:Kcnk4	UTSW	19	6,903,668 (GRCm39)	missense	probably benign
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'- TGCCTGAGCATCAGCAAGAG -3'
(R):5'- GGTAAAAGGGCAGCTTTCGG -3'

Sequencing Primer
(F):5'- ATCCGGGTCCAGAGATCC -3'
(R):5'- TCGGAGCTGCAATGGGTC -3'

Posted On

2020-10-20