Mutagenetix > Incidental Mutation

Incidental Mutation 'R4875:Kcns1'

376715

Institutional Source

Beutler Lab

Gene Symbol

Kcns1

Ensembl Gene

ENSMUSG00000040164

Gene Name

K+ voltage-gated channel, subfamily S, 1

Synonyms

Kv9.1

MMRRC Submission

044392-MU

Accession Numbers

Essential gene?

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

Stock #

R4875 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

164005539-164013033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164010021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 246 (Y246C)

Ref Sequence

ENSEMBL: ENSMUSP00000038901 (fasta)

Gene Model

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

AlphaFold

O35173

Predicted Effect

probably damaging
Transcript: ENSMUST00000045196
AA Change: Y246C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038901
Gene: ENSMUSG00000040164
AA Change: Y246C

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

0.2200

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

95% (57/60)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,521,189 (GRCm39)	E119D	probably benign	Het
Alox5	A	T	6: 116,390,811 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,011,515 (GRCm39)	V1294A	probably damaging	Het
BB019430	A	G	10: 58,539,865 (GRCm39)		noncoding transcript	Het
Bbs9	T	C	9: 22,490,011 (GRCm39)	F261L	probably benign	Het
Catsperb	A	T	12: 101,554,244 (GRCm39)	N646I	possibly damaging	Het
Ccdc112	A	G	18: 46,429,356 (GRCm39)	I114T	probably damaging	Het
Cecr2	T	C	6: 120,727,877 (GRCm39)	L340P	probably damaging	Het
Ces2e	T	A	8: 105,653,817 (GRCm39)	V85E	probably damaging	Het
Cnpy2	C	A	10: 128,161,964 (GRCm39)	T79K	probably damaging	Het
Cntn4	G	A	6: 106,414,874 (GRCm39)	R135H	possibly damaging	Het
Cpne8	T	A	15: 90,532,771 (GRCm39)		probably benign	Het
Ctso	C	T	3: 81,849,688 (GRCm39)		probably benign	Het
Cyp3a16	C	A	5: 145,389,659 (GRCm39)	M235I	probably benign	Het
Dll3	A	G	7: 27,995,860 (GRCm39)	C314R	probably damaging	Het
Dnah7c	A	G	1: 46,728,085 (GRCm39)	N2928D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dqx1	C	A	6: 83,037,993 (GRCm39)	D460E	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ehbp1	A	G	11: 22,051,164 (GRCm39)	C438R	probably damaging	Het
Ehd3	T	G	17: 74,112,299 (GRCm39)	V21G	probably damaging	Het
Ero1b	G	A	13: 12,619,325 (GRCm39)	V440I	probably damaging	Het
Fpgt	G	A	3: 154,793,550 (GRCm39)	A159V	probably damaging	Het
Gcn1	T	C	5: 115,714,229 (GRCm39)	L123P	possibly damaging	Het
Gm14496	A	T	2: 181,639,226 (GRCm39)	R439W	probably damaging	Het
Gm4353	G	C	7: 115,683,648 (GRCm39)	P49R	probably damaging	Het
Gsdmc2	C	T	15: 63,700,101 (GRCm39)	A224T	probably benign	Het
Helz	T	A	11: 107,528,560 (GRCm39)		probably benign	Het
Hnf1a	T	C	5: 115,108,732 (GRCm39)	T58A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kif26b	A	G	1: 178,742,892 (GRCm39)	E549G	probably benign	Het
Krt9	T	C	11: 100,080,863 (GRCm39)	I330V	probably benign	Het
Lair1	A	T	7: 4,032,033 (GRCm39)	S25T	probably benign	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Luzp2	A	G	7: 54,816,996 (GRCm39)	I149V	possibly damaging	Het
Mcoln1	T	A	8: 3,557,422 (GRCm39)	S143T	probably benign	Het
Mcph1	A	G	8: 18,675,574 (GRCm39)		probably null	Het
Mgat5	G	A	1: 127,396,986 (GRCm39)	V578M	probably damaging	Het
Mis18bp1	G	A	12: 65,208,209 (GRCm39)	T168M	probably benign	Het
Mospd4	G	T	18: 46,598,804 (GRCm39)		noncoding transcript	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Myom1	T	C	17: 71,379,114 (GRCm39)	V626A	probably damaging	Het
Naa80	C	T	9: 107,460,818 (GRCm39)	R238C	probably damaging	Het
Ncam1	T	C	9: 49,418,921 (GRCm39)		probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Ndufv1	T	C	19: 4,062,653 (GRCm39)		probably null	Het
Nlrp2	A	T	7: 5,301,858 (GRCm39)	F211L	probably benign	Het
Or10a49	A	T	7: 108,467,993 (GRCm39)	F123I	probably damaging	Het
Or10q12	T	A	19: 13,746,126 (GRCm39)	M140K	probably damaging	Het
Or2ad1	T	A	13: 21,326,450 (GRCm39)	Y259F	probably damaging	Het
Osbpl11	G	A	16: 33,054,863 (GRCm39)	V649I	probably benign	Het
Pax8	T	A	2: 24,331,652 (GRCm39)	M144L	probably benign	Het
Pcnt	T	C	10: 76,205,688 (GRCm39)	T2555A	probably benign	Het
Plat	T	A	8: 23,258,466 (GRCm39)	I23K	probably benign	Het
Plpp2	G	A	10: 79,366,763 (GRCm39)	T51M	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Prl7c1	T	C	13: 27,957,742 (GRCm39)	M233V	probably benign	Het
Prox1	A	C	1: 189,894,319 (GRCm39)	F42C	probably damaging	Het
Pwwp2b	A	T	7: 138,835,978 (GRCm39)	Q473L	possibly damaging	Het
Rims4	A	T	2: 163,707,443 (GRCm39)	N127K	probably null	Het
Scn1a	T	C	2: 66,158,820 (GRCm39)	T367A	possibly damaging	Het
Slc23a2	A	G	2: 131,898,800 (GRCm39)	I579T	possibly damaging	Het
Sp9	T	C	2: 73,103,962 (GRCm39)	V172A	possibly damaging	Het
Spta1	T	A	1: 174,003,396 (GRCm39)	L109Q	probably damaging	Het
Strap	ACCTGCCCTCCT	ACCT	6: 137,726,316 (GRCm39)		probably benign	Het
Synj2	A	T	17: 6,038,343 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,206 (GRCm39)	V15A	probably damaging	Het
Tgif2-ps2	A	G	17: 40,426,274 (GRCm39)		noncoding transcript	Het
Tnrc18	A	T	5: 142,750,932 (GRCm39)	M1216K	unknown	Het
Tpst2	T	A	5: 112,457,687 (GRCm39)	Y69*	probably null	Het
Tpx2	C	A	2: 152,735,535 (GRCm39)	A721E	probably benign	Het
Trmt1l	A	G	1: 151,330,755 (GRCm39)	T591A	probably benign	Het
Tuba8	T	A	6: 121,203,042 (GRCm39)		probably benign	Het
Ubiad1	T	C	4: 148,528,556 (GRCm39)	T118A	possibly damaging	Het
Unc13c	T	C	9: 73,424,566 (GRCm39)	T2017A	probably damaging	Het
Vmn1r59	G	T	7: 5,457,108 (GRCm39)	N217K	probably benign	Het
Vmn2r87	T	C	10: 130,308,367 (GRCm39)	I624V	probably damaging	Het
Wdr4	A	G	17: 31,718,129 (GRCm39)	V315A	probably benign	Het
Xpo7	T	C	14: 70,914,256 (GRCm39)		probably null	Het
Zfp827	T	A	8: 79,787,403 (GRCm39)	W190R	probably damaging	Het
Zfp971	A	G	2: 177,674,940 (GRCm39)	T180A	probably benign	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
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
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'- CGGAACACTTGCACTACCTTG -3'
(R):5'- AGAATCCAGGCTACTCGCTG -3'

Sequencing Primer
(F):5'- ACTTGCACTACCTTGCCCAG -3'
(R):5'- TGCCCAGCAAGCTCTTCAG -3'

Posted On

2016-03-17