Mutagenetix > Incidental Mutation

Incidental Mutation 'R0241:Kcns1'

59470

Institutional Source

Beutler Lab

Gene Symbol

Kcns1

Ensembl Gene

ENSMUSG00000040164

Gene Name

K+ voltage-gated channel, subfamily S, 1

Synonyms

Kv9.1

MMRRC Submission

038479-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0241 (G1)

Quality Score

105

Status

Validated

Chromosome

Chromosomal Location

164005539-164013033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 164010300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 153 (I153N)

Ref Sequence

ENSEMBL: ENSMUSP00000038901 (fasta)

Gene Model

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

AlphaFold

O35173

Predicted Effect

probably damaging
Transcript: ENSMUST00000045196
AA Change: I153N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038901
Gene: ENSMUSG00000040164
AA Change: I153N

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

0.1832

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

99% (72/73)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	T	A	6: 39,560,752 (GRCm39)	V380E	probably benign	Het
Anapc1	A	T	2: 128,470,549 (GRCm39)	M1527K	possibly damaging	Het
Arfgef3	T	A	10: 18,474,962 (GRCm39)	I1575F	probably damaging	Het
Atp4a	G	T	7: 30,416,560 (GRCm39)	G446C	probably benign	Het
Bicra	A	T	7: 15,709,070 (GRCm39)	M1188K	probably damaging	Het
Brd7	G	A	8: 89,072,478 (GRCm39)	R331W	probably benign	Het
Cactin	A	G	10: 81,158,486 (GRCm39)	T151A	probably benign	Het
Cadps	G	A	14: 12,376,675 (GRCm38)	T1274M	probably damaging	Het
Catsper3	T	C	13: 55,952,667 (GRCm39)	M175T	probably damaging	Het
Chd5	A	G	4: 152,450,589 (GRCm39)	D605G	probably damaging	Het
Chst12	G	A	5: 140,510,054 (GRCm39)	R227H	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Cimap1d	C	T	10: 79,480,564 (GRCm39)		probably null	Het
Cobl	A	T	11: 12,204,524 (GRCm39)	V644E	probably benign	Het
Ddx31	A	G	2: 28,738,303 (GRCm39)	T155A	probably damaging	Het
Dnah3	T	C	7: 119,521,953 (GRCm39)	Q4069R	probably damaging	Het
Dnah8	T	C	17: 30,984,653 (GRCm39)	I3117T	probably damaging	Het
Doc2b	A	G	11: 75,663,387 (GRCm39)	V355A	probably damaging	Het
Dock10	A	T	1: 80,556,340 (GRCm39)	S578T	probably benign	Het
Duox1	T	C	2: 122,163,878 (GRCm39)		probably benign	Het
Epb41l5	T	C	1: 119,495,509 (GRCm39)		probably null	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fcer2a	A	G	8: 3,738,796 (GRCm39)		probably null	Het
Fmnl1	G	A	11: 103,072,996 (GRCm39)		probably null	Het
Fry	A	T	5: 150,183,811 (GRCm39)		probably benign	Het
Git2	T	C	5: 114,871,290 (GRCm39)	E208G	probably damaging	Het
Hs6st3	T	C	14: 119,376,232 (GRCm39)	F136L	probably benign	Het
Hydin	G	A	8: 111,124,655 (GRCm39)	V555I	probably benign	Het
Kmt2b	A	G	7: 30,276,494 (GRCm39)	L1726S	probably damaging	Het
Loxl3	A	G	6: 83,027,114 (GRCm39)	D615G	probably damaging	Het
Negr1	T	A	3: 156,914,036 (GRCm39)		probably benign	Het
Nfasc	C	A	1: 132,564,731 (GRCm39)	A70S	probably benign	Het
Or4d1	T	A	11: 87,804,860 (GRCm39)	N291Y	probably damaging	Het
Or4p21	A	T	2: 88,276,889 (GRCm39)	M131K	possibly damaging	Het
Or52n4	A	G	7: 104,294,450 (GRCm39)	M41T	probably benign	Het
Or5g29	A	G	2: 85,421,154 (GRCm39)	K90R	probably benign	Het
Otud7a	T	C	7: 63,346,992 (GRCm39)		probably benign	Het
Pacs2	T	C	12: 113,032,890 (GRCm39)		probably benign	Het
Pde7b	A	G	10: 20,311,962 (GRCm39)	C239R	probably damaging	Het
Pdzd2	A	T	15: 12,368,027 (GRCm39)	L2654Q	probably damaging	Het
Pgap1	T	C	1: 54,575,110 (GRCm39)		probably null	Het
Proz	T	A	8: 13,115,356 (GRCm39)	M124K	probably benign	Het
Raet1d	A	G	10: 22,247,328 (GRCm39)	T135A	probably benign	Het
Rapgef1	A	G	2: 29,592,682 (GRCm39)	N558S	possibly damaging	Het
Rpl7	C	G	1: 16,173,446 (GRCm39)	G101A	possibly damaging	Het
Sec14l1	G	A	11: 117,037,924 (GRCm39)		probably benign	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Simc1	G	T	13: 54,698,338 (GRCm39)	L1319F	probably damaging	Het
Sspo	A	G	6: 48,438,429 (GRCm39)	E1499G	possibly damaging	Het
Tango6	C	T	8: 107,473,993 (GRCm39)		probably benign	Het
Tas2r118	T	C	6: 23,969,338 (GRCm39)	Y241C	probably damaging	Het
Tbck	A	G	3: 132,430,636 (GRCm39)	E344G	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Thop1	T	A	10: 80,916,079 (GRCm39)		probably benign	Het
Tmbim7	A	T	5: 3,716,866 (GRCm39)	Y66F	probably benign	Het
Tmc8	C	T	11: 117,677,207 (GRCm39)		probably benign	Het
Tnfrsf19	A	G	14: 61,211,041 (GRCm39)	S216P	possibly damaging	Het
Trappc2l	A	G	8: 123,341,132 (GRCm39)		probably benign	Het
Trim67	A	G	8: 125,549,929 (GRCm39)	R520G	probably damaging	Het
Ubp1	T	A	9: 113,795,655 (GRCm39)		probably null	Het
Vil1	T	C	1: 74,465,853 (GRCm39)	L548P	probably damaging	Het
Wdr3	A	G	3: 100,052,973 (GRCm39)	V593A	probably damaging	Het
Wdr5	A	G	2: 27,423,025 (GRCm39)	Y243C	probably damaging	Het
Zan	T	C	5: 137,420,084 (GRCm39)	T2858A	unknown	Het
Zbtb37	A	T	1: 160,847,939 (GRCm39)	V356E	probably benign	Het
Zfp36	C	T	7: 28,077,759 (GRCm39)	V50I	probably damaging	Het
Zfp563	A	T	17: 33,323,659 (GRCm39)	S85C	possibly 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
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
R2878: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'- AGCACCGACACGATGTCAATGAG -3'
(R):5'- TACTTTGATCGGCATCCGGGCTTC -3'

Sequencing Primer
(F):5'- AGCGATGCAGAAGTACTCC -3'
(R):5'- CTGCACGTCCTAGACGAG -3'

Posted On

2013-07-11