Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03033:Kcnk18'

408531

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 #

IGL03033

Quality Score

Status

Chromosome

Chromosomal Location

59208080-59225802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59223616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 254 (P254S)

Ref Sequence

ENSEMBL: ENSMUSP00000065713 (fasta)

Gene Model

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

AlphaFold

Q6VV64

Predicted Effect

probably benign
Transcript: ENSMUST00000065204
AA Change: P254S

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000065713
Gene: ENSMUSG00000040901
AA Change: P254S

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	T	6: 48,909,452 (GRCm39)	T566S	probably benign	Het
Ap3b1	A	G	13: 94,585,003 (GRCm39)	T405A	probably benign	Het
Bicd2	G	T	13: 49,533,396 (GRCm39)	V587L	probably benign	Het
Bsn	A	T	9: 107,993,192 (GRCm39)	D853E	probably damaging	Het
Cacna1i	C	A	15: 80,246,440 (GRCm39)	N611K	probably damaging	Het
Capn11	A	G	17: 45,953,473 (GRCm39)	L227P	probably damaging	Het
Copb2	A	G	9: 98,452,426 (GRCm39)	N70S	probably benign	Het
Ddb1	T	C	19: 10,603,290 (GRCm39)	V866A	possibly damaging	Het
Dst	A	G	1: 34,208,826 (GRCm39)		probably benign	Het
Ero1b	A	G	13: 12,596,551 (GRCm39)	Y117C	probably damaging	Het
Esyt1	T	G	10: 128,352,252 (GRCm39)	R758S	probably benign	Het
Gm20441	A	G	10: 75,607,326 (GRCm39)	F55S	probably damaging	Het
Gm20547	A	T	17: 35,078,492 (GRCm39)	M362K	probably damaging	Het
Gucy1b2	A	G	14: 62,653,393 (GRCm39)	V334A	probably benign	Het
Hnrnph3	A	T	10: 62,853,958 (GRCm39)	F53L	probably benign	Het
Lrfn5	T	A	12: 61,886,833 (GRCm39)	L207Q	probably damaging	Het
Lrp3	T	C	7: 34,902,052 (GRCm39)	M589V	possibly damaging	Het
Nlrp1b	A	G	11: 71,052,665 (GRCm39)	V918A	probably benign	Het
Nsg2	A	G	11: 31,951,836 (GRCm39)	T29A	probably damaging	Het
Or51b4	T	A	7: 103,530,724 (GRCm39)	H242L	probably damaging	Het
Pank4	C	T	4: 155,059,172 (GRCm39)	T435I	probably damaging	Het
Prom1	C	T	5: 44,163,502 (GRCm39)		probably null	Het
Prr14	G	T	7: 127,071,135 (GRCm39)	L3F	probably damaging	Het
Rfx7	A	T	9: 72,440,271 (GRCm39)		probably benign	Het
Rhbdl3	A	G	11: 80,237,653 (GRCm39)	N295S	probably damaging	Het
Ripk3	A	G	14: 56,024,622 (GRCm39)		probably benign	Het
Ror1	A	T	4: 100,269,092 (GRCm39)	N310I	possibly damaging	Het
Rpl23a	T	C	11: 78,072,408 (GRCm39)	Y74C	possibly damaging	Het
Rtp3	A	T	9: 110,815,162 (GRCm39)		probably benign	Het
Sbno1	A	T	5: 124,514,213 (GRCm39)	N1326K	probably damaging	Het
Sepsecs	T	C	5: 52,818,018 (GRCm39)	N253S	probably damaging	Het
Setd2	A	C	9: 110,380,343 (GRCm39)	E1386A	possibly damaging	Het
Sf3b3	T	C	8: 111,537,596 (GRCm39)	I1211V	possibly damaging	Het
Sh3tc2	G	A	18: 62,107,549 (GRCm39)	V187M	possibly damaging	Het
Slc30a6	G	T	17: 74,716,373 (GRCm39)	E136*	probably null	Het
Sptan1	T	A	2: 29,881,045 (GRCm39)	V438E	probably damaging	Het
Stab2	A	G	10: 86,832,667 (GRCm39)		probably null	Het
Sult2a1	T	A	7: 13,566,635 (GRCm39)		probably benign	Het
Tmem198	A	G	1: 75,459,612 (GRCm39)	D189G	possibly damaging	Het
Tnfrsf8	C	A	4: 145,019,219 (GRCm39)	L205F	possibly damaging	Het
Vmn1r68	T	A	7: 10,262,074 (GRCm39)	E8V	probably damaging	Het
Wnk3	G	A	X: 150,059,924 (GRCm39)	D742N	probably damaging	Het
Xpc	A	T	6: 91,468,297 (GRCm39)		probably null	Het
Zfp113	A	T	5: 138,149,458 (GRCm39)		probably benign	Het
Zfp120	A	T	2: 149,961,794 (GRCm39)	D51E	probably benign	Het
Zfp473	C	T	7: 44,382,522 (GRCm39)	V603M	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
IGL02499:Kcnk18	APN	19	59,223,614 (GRCm39)	missense	probably benign	0.10
IGL02527:Kcnk18	APN	19	59,223,707 (GRCm39)	missense	probably damaging	0.99
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

2016-08-02