Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02499:Kcnk18'

295929

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnk18

Ensembl Gene

ENSMUSG00000040901

Gene Name

potassium channel, subfamily K, member 18

Synonyms

Tresk, Tresk-2, LOC332396

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02499

Quality Score

Status

Chromosome

Chromosomal Location

59208080-59225802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59223614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 253 (Q253L)

Ref Sequence

ENSEMBL: ENSMUSP00000065713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065204]

AlphaFold

Q6VV64

Predicted Effect

probably benign
Transcript: ENSMUST00000065204
AA Change: Q253L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000065713
Gene: ENSMUSG00000040901
AA Change: Q253L

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
transmembrane domain	31	53	N/A	INTRINSIC
Pfam:Ion_trans_2	99	168	1e-21	PFAM
Pfam:Ion_trans_2	298	376	1.4e-14	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit altered potassium conductance and neuron electrophysiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abcb1a	A	G	5: 8,776,807 (GRCm39)	N835S	possibly damaging	Het
Abr	A	T	11: 76,399,916 (GRCm39)	F27Y	probably benign	Het
Adam5	C	T	8: 25,271,581 (GRCm39)		probably null	Het
Alas1	A	T	9: 106,118,520 (GRCm39)	Y201N	probably damaging	Het
Aldoart1	T	A	4: 72,770,476 (GRCm39)	R111W	possibly damaging	Het
Arhgef25	A	G	10: 127,021,460 (GRCm39)	Y253H	probably damaging	Het
Arhgef28	G	T	13: 98,090,291 (GRCm39)	A1076E	possibly damaging	Het
Baz2b	C	T	2: 59,731,840 (GRCm39)	R2066K	possibly damaging	Het
Bdh1	G	T	16: 31,256,866 (GRCm39)	R5L	possibly damaging	Het
Brap	A	G	5: 121,817,934 (GRCm39)	Y358C	probably damaging	Het
Cad	T	C	5: 31,226,948 (GRCm39)	V1235A	probably damaging	Het
Cadps	G	T	14: 12,822,725 (GRCm38)	S5*	probably null	Het
Cd200r2	A	G	16: 44,734,948 (GRCm39)	T220A	possibly damaging	Het
Cd209e	T	A	8: 3,904,238 (GRCm39)	M6L	probably benign	Het
Cdh23	G	T	10: 60,220,958 (GRCm39)	T1265K	probably damaging	Het
Clec16a	T	C	16: 10,512,540 (GRCm39)	S828P	probably benign	Het
Dao	A	G	5: 114,152,002 (GRCm39)	K107E	possibly damaging	Het
Dnah6	T	A	6: 72,998,210 (GRCm39)	M4071L	probably benign	Het
Dvl1	T	C	4: 155,939,237 (GRCm39)	I250T	probably benign	Het
Dzip3	A	C	16: 48,754,213 (GRCm39)	L945V	probably damaging	Het
Gm128	A	G	3: 95,147,992 (GRCm39)	S101P	possibly damaging	Het
Gphn	T	C	12: 78,539,074 (GRCm39)	L240P	probably benign	Het
Hecw2	A	G	1: 53,965,647 (GRCm39)	I393T	probably benign	Het
Iigp1c	T	C	18: 60,378,710 (GRCm39)	S82P	probably damaging	Het
Kat14	A	G	2: 144,235,751 (GRCm39)	E161G	probably benign	Het
Kcne3	A	C	7: 99,833,610 (GRCm39)	I76L	probably benign	Het
Kmt2a	T	C	9: 44,741,806 (GRCm39)		probably benign	Het
Lrrc73	A	G	17: 46,567,915 (GRCm39)		probably benign	Het
Mki67	A	G	7: 135,296,056 (GRCm39)	S2993P	possibly damaging	Het
Mto1	T	A	9: 78,368,794 (GRCm39)		probably benign	Het
Myo9a	T	A	9: 59,722,669 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,467,342 (GRCm39)		probably benign	Het
Ncoa7	T	C	10: 30,566,885 (GRCm39)	T587A	probably benign	Het
Nemf	T	A	12: 69,368,903 (GRCm39)	I771F	probably damaging	Het
Or10k2	T	A	8: 84,267,812 (GRCm39)	V13D	possibly damaging	Het
Or5k16	A	G	16: 58,736,614 (GRCm39)	L130P	probably damaging	Het
Or8c10	A	T	9: 38,278,977 (GRCm39)	Y45F	probably benign	Het
Papln	T	C	12: 83,827,445 (GRCm39)	V761A	probably benign	Het
Pask	A	T	1: 93,248,817 (GRCm39)	L861*	probably null	Het
Pcdh18	T	A	3: 49,707,896 (GRCm39)	R859S	probably benign	Het
Ppip5k1	C	T	2: 121,162,034 (GRCm39)		probably null	Het
Ptprs	A	G	17: 56,744,884 (GRCm39)	V284A	probably damaging	Het
Rasgrp4	A	T	7: 28,850,928 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,419,271 (GRCm39)	I614V	probably benign	Het
Sec23ip	T	C	7: 128,378,640 (GRCm39)	I818T	probably damaging	Het
Skint11	G	A	4: 114,051,801 (GRCm39)	A50T	probably benign	Het
Sqor	T	A	2: 122,650,007 (GRCm39)	M417K	possibly damaging	Het
Tbc1d24	T	C	17: 24,426,593 (GRCm39)		probably null	Het
Tbc1d8b	A	T	X: 138,613,173 (GRCm39)	D333V	probably damaging	Het
Tbx2	T	C	11: 85,731,739 (GRCm39)	S679P	possibly damaging	Het
Thbs2	A	G	17: 14,904,328 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,689,795 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,493,568 (GRCm39)	I126N	probably damaging	Het
Zbtb10	G	T	3: 9,316,800 (GRCm39)	G204V	probably damaging	Het
Zfp426	A	C	9: 20,384,414 (GRCm39)		probably benign	Het

Other mutations in Kcnk18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Kcnk18	APN	19	59,223,502 (GRCm39)	missense	probably benign	0.23
IGL01460:Kcnk18	APN	19	59,208,289 (GRCm39)	missense	probably damaging	1.00
IGL02054:Kcnk18	APN	19	59,224,045 (GRCm39)	utr 3 prime	probably benign
IGL02304:Kcnk18	APN	19	59,223,295 (GRCm39)	missense	probably damaging	1.00
IGL02527:Kcnk18	APN	19	59,223,707 (GRCm39)	missense	probably damaging	0.99
IGL03033:Kcnk18	APN	19	59,223,616 (GRCm39)	missense	probably benign	0.21
cedar	UTSW	19	59,223,773 (GRCm39)	missense	probably damaging	1.00
R1552:Kcnk18	UTSW	19	59,223,890 (GRCm39)	missense	probably damaging	0.99
R1775:Kcnk18	UTSW	19	59,223,773 (GRCm39)	missense	probably damaging	1.00
R1913:Kcnk18	UTSW	19	59,223,490 (GRCm39)	missense	possibly damaging	0.54
R2278:Kcnk18	UTSW	19	59,223,926 (GRCm39)	missense	probably damaging	1.00
R3036:Kcnk18	UTSW	19	59,223,494 (GRCm39)	missense	probably benign	0.38
R4478:Kcnk18	UTSW	19	59,223,676 (GRCm39)	missense	probably damaging	1.00
R4494:Kcnk18	UTSW	19	59,223,263 (GRCm39)	missense	probably damaging	1.00
R4827:Kcnk18	UTSW	19	59,208,362 (GRCm39)	missense	probably damaging	0.97
R5393:Kcnk18	UTSW	19	59,208,271 (GRCm39)	missense	probably damaging	1.00
R6077:Kcnk18	UTSW	19	59,223,746 (GRCm39)	missense	probably damaging	0.98
R6145:Kcnk18	UTSW	19	59,224,039 (GRCm39)	makesense	probably null
R6881:Kcnk18	UTSW	19	59,208,390 (GRCm39)	missense	probably benign
R9641:Kcnk18	UTSW	19	59,223,266 (GRCm39)	missense	probably damaging	1.00
Z1176:Kcnk18	UTSW	19	59,223,391 (GRCm39)	missense	probably benign	0.39
Z1177:Kcnk18	UTSW	19	59,213,911 (GRCm39)	frame shift	probably null

Posted On

2015-04-16