Mutagenetix > Incidental Mutation

Incidental Mutation 'R2878:Kcns1'

260165

Institutional Source

Beutler Lab

Gene Symbol

Kcns1

Ensembl Gene

ENSMUSG00000040164

Gene Name

K+ voltage-gated channel, subfamily S, 1

Synonyms

Kv9.1

MMRRC Submission

040466-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R2878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164005539-164013033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164006682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 427 (I427T)

Ref Sequence

ENSEMBL: ENSMUSP00000038901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045196]

AlphaFold

O35173

Predicted Effect

probably damaging
Transcript: ENSMUST00000045196
AA Change: I427T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038901
Gene: ENSMUSG00000040164
AA Change: I427T

Domain	Start	End	E-Value	Type
BTB	19	128	7.07e-7	SMART
low complexity region	160	175	N/A	INTRINSIC
Pfam:Ion_trans	188	439	2e-44	PFAM
Pfam:Ion_trans_2	349	433	5e-13	PFAM
low complexity region	455	468	N/A	INTRINSIC

Meta Mutation Damage Score

0.9541

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

92% (58/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,241,889 (GRCm39)	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,689,755 (GRCm39)	M384K	probably damaging	Het
Adgrg7	A	G	16: 56,570,817 (GRCm39)	F404L	probably benign	Het
Akr1c20	G	A	13: 4,557,774 (GRCm39)	T251M	probably damaging	Het
Amph	G	A	13: 19,288,437 (GRCm39)	V309I	possibly damaging	Het
Ano2	T	G	6: 125,840,481 (GRCm39)	F384C	probably damaging	Het
Aplf	G	A	6: 87,645,409 (GRCm39)	R32*	probably null	Het
Arhgef18	A	G	8: 3,482,759 (GRCm39)	M155V	probably benign	Het
Atg2b	A	T	12: 105,630,268 (GRCm39)	Y374*	probably null	Het
Camkmt	T	C	17: 85,738,979 (GRCm39)		probably benign	Het
Capn2	T	A	1: 182,344,798 (GRCm39)	E41V	probably benign	Het
Cd53	T	C	3: 106,674,732 (GRCm39)	T112A	probably benign	Het
Cyp2a4	G	A	7: 26,011,612 (GRCm39)	E278K	possibly damaging	Het
Dact2	A	T	17: 14,416,176 (GRCm39)	S675T	probably damaging	Het
Dync1li2	A	C	8: 105,156,047 (GRCm39)	Y265D	probably damaging	Het
Eml4	T	A	17: 83,717,603 (GRCm39)	H58Q	probably benign	Het
F13b	T	C	1: 139,429,485 (GRCm39)	M1T	probably null	Het
Fam83b	A	G	9: 76,398,092 (GRCm39)	F1004L	probably damaging	Het
Fbxo48	A	G	11: 16,903,382 (GRCm39)	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,010,534 (GRCm39)	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,315,038 (GRCm39)	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,728,678 (GRCm39)	P60S	probably benign	Het
Fscb	A	T	12: 64,519,348 (GRCm39)	V706E	unknown	Het
Gfm2	A	G	13: 97,289,757 (GRCm39)	R181G	possibly damaging	Het
Gm17546	A	T	15: 95,727,805 (GRCm39)		probably benign	Het
Grin1	A	G	2: 25,187,641 (GRCm39)	V594A	probably damaging	Het
Itpripl1	A	G	2: 126,983,534 (GRCm39)	V196A	probably benign	Het
Map3k19	T	A	1: 127,751,530 (GRCm39)	E607V	possibly damaging	Het
Map3k4	T	C	17: 12,482,954 (GRCm39)	S588G	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Naa80	A	T	9: 107,460,367 (GRCm39)	E87D	possibly damaging	Het
Nebl	C	A	2: 17,439,740 (GRCm39)	D178Y	probably damaging	Het
Nfatc3	C	A	8: 106,818,776 (GRCm39)	T498K	probably damaging	Het
Nfkb2	G	A	19: 46,295,880 (GRCm39)	R158H	possibly damaging	Het
Obscn	T	C	11: 58,947,014 (GRCm39)	E4337G	possibly damaging	Het
Or5b106	A	G	19: 13,123,771 (GRCm39)	L84P	probably benign	Het
Palb2	A	G	7: 121,713,652 (GRCm39)	V877A	probably damaging	Het
Rbm6	T	C	9: 107,729,649 (GRCm39)	E333G	probably damaging	Het
Rem2	A	G	14: 54,713,819 (GRCm39)	T31A	possibly damaging	Het
Ric1	A	G	19: 29,579,730 (GRCm39)	D1224G	possibly damaging	Het
Rp1	A	G	1: 4,418,362 (GRCm39)	S917P	probably damaging	Het
Scn2a	G	A	2: 65,518,715 (GRCm39)	G363D	probably damaging	Het
Shcbp1l	A	T	1: 153,313,264 (GRCm39)		probably benign	Het
Skor2	G	T	18: 76,948,419 (GRCm39)	E714*	probably null	Het
Slc15a1	T	A	14: 121,703,345 (GRCm39)	K545N	probably benign	Het
Slc1a2	T	A	2: 102,591,512 (GRCm39)	M414K	probably damaging	Het
Slc7a8	A	G	14: 54,997,143 (GRCm39)	S70P	probably damaging	Het
Spopfm1	G	T	3: 94,173,787 (GRCm39)	C265F	possibly damaging	Het
Taf1a	A	G	1: 183,179,173 (GRCm39)	E117G	probably damaging	Het
Trem2	A	G	17: 48,658,141 (GRCm39)	D135G	probably benign	Het
Ttn	T	C	2: 76,567,409 (GRCm39)	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,089,105 (GRCm39)	D258G	probably benign	Het
Unc80	TGTATTCCAGGCG	TG	1: 66,710,735 (GRCm39)		probably benign	Het
Vmn2r56	A	C	7: 12,444,954 (GRCm39)	M433R	probably benign	Het
Wdr45	C	T	X: 7,593,611 (GRCm39)	P271S	probably damaging	Het
Zfp410	A	C	12: 84,378,411 (GRCm39)	N245T	probably damaging	Het

Other mutations in Kcns1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0013:Kcns1	UTSW	2	164,010,563 (GRCm39)	missense	probably benign	0.00
R0135:Kcns1	UTSW	2	164,006,875 (GRCm39)	missense	possibly damaging	0.90
R0241:Kcns1	UTSW	2	164,010,300 (GRCm39)	missense	probably damaging	1.00
R1966:Kcns1	UTSW	2	164,010,455 (GRCm39)	missense	probably damaging	1.00
R2877:Kcns1	UTSW	2	164,006,682 (GRCm39)	missense	probably damaging	1.00
R3157:Kcns1	UTSW	2	164,006,865 (GRCm39)	missense	probably damaging	1.00
R4013:Kcns1	UTSW	2	164,010,177 (GRCm39)	missense	probably damaging	1.00
R4451:Kcns1	UTSW	2	164,010,598 (GRCm39)	missense	possibly damaging	0.46
R4873:Kcns1	UTSW	2	164,010,021 (GRCm39)	missense	probably damaging	1.00
R4875:Kcns1	UTSW	2	164,010,021 (GRCm39)	missense	probably damaging	1.00
R5270:Kcns1	UTSW	2	164,010,249 (GRCm39)	missense	probably benign	0.37
R5493:Kcns1	UTSW	2	164,009,899 (GRCm39)	missense	probably benign	0.02
R5775:Kcns1	UTSW	2	164,006,686 (GRCm39)	missense	probably damaging	0.99
R6931:Kcns1	UTSW	2	164,006,758 (GRCm39)	missense	probably damaging	0.99
R7689:Kcns1	UTSW	2	164,010,241 (GRCm39)	missense	probably damaging	1.00
R8304:Kcns1	UTSW	2	164,010,022 (GRCm39)	missense	probably damaging	1.00
R9044:Kcns1	UTSW	2	164,009,996 (GRCm39)	missense	probably damaging	1.00
R9195:Kcns1	UTSW	2	164,009,778 (GRCm39)	missense	probably damaging	1.00
R9414:Kcns1	UTSW	2	164,010,378 (GRCm39)	missense	probably damaging	1.00
Z1176:Kcns1	UTSW	2	164,010,553 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTTAGCTGATTCCCAGGCTG -3'
(R):5'- GAAAACGAGGGCTTTCACAC -3'

Sequencing Primer
(F):5'- AGATTTTGCAGGCTCCCG -3'
(R):5'- GAGGGCTTTCACACAATCCCTG -3'

Posted On

2015-01-23