Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Kcns1'

32614

Institutional Source

Beutler Lab

Gene Symbol

Kcns1

Ensembl Gene

ENSMUSG00000040164

Gene Name

K+ voltage-gated channel, subfamily S, 1

Synonyms

Kv9.1

MMRRC Submission

038308-MU

Accession Numbers

Essential gene?

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

Stock #

R0013 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

164005539-164013033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 164010563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 65 (D65E)

Ref Sequence

ENSEMBL: ENSMUSP00000038901 (fasta)

Gene Model

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

AlphaFold

O35173

Predicted Effect

probably benign
Transcript: ENSMUST00000045196
AA Change: D65E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000038901
Gene: ENSMUSG00000040164
AA Change: D65E

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

0.0814

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,293,346 (GRCm39)	M156V	probably benign	Het
Adnp2	A	T	18: 80,172,960 (GRCm39)	V483D	probably damaging	Het
Aff1	G	T	5: 103,976,350 (GRCm39)	E491*	probably null	Het
Agl	A	T	3: 116,570,257 (GRCm39)	C911*	probably null	Het
Akt2	A	G	7: 27,335,483 (GRCm39)	D284G	probably damaging	Het
Alox15	A	G	11: 70,240,461 (GRCm39)	M240T	possibly damaging	Het
Antxr2	A	G	5: 98,127,844 (GRCm39)	V229A	probably damaging	Het
Arap2	G	A	5: 62,840,827 (GRCm39)	L680F	probably damaging	Het
Btaf1	A	G	19: 36,935,773 (GRCm39)	T188A	probably benign	Het
Btnl6	G	A	17: 34,734,505 (GRCm39)	Q86*	probably null	Het
C2cd3	T	A	7: 100,065,269 (GRCm39)	L685H	probably damaging	Het
Cdh23	T	C	10: 60,248,952 (GRCm39)	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,179,108 (GRCm39)	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,405,043 (GRCm39)	T2500S	possibly damaging	Het
Def6	A	G	17: 28,436,066 (GRCm39)	Y75C	probably damaging	Het
Dhx33	A	T	11: 70,884,461 (GRCm39)	F448L	probably damaging	Het
Dner	C	T	1: 84,472,614 (GRCm39)		probably benign	Het
Dnmbp	G	A	19: 43,890,670 (GRCm39)	P366S	probably benign	Het
Eif4g3	T	C	4: 137,903,159 (GRCm39)	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,820,185 (GRCm39)		probably benign	Het
Faah	C	A	4: 115,861,588 (GRCm39)	L305F	probably damaging	Het
Flt1	A	G	5: 147,507,824 (GRCm39)		probably benign	Het
Fyco1	A	T	9: 123,651,471 (GRCm39)	N1196K	probably benign	Het
Galnt18	T	C	7: 111,153,664 (GRCm39)	N320S	probably damaging	Het
Garin3	A	G	11: 46,297,631 (GRCm39)	T312A	unknown	Het
Glp2r	C	A	11: 67,600,538 (GRCm39)	G437V	possibly damaging	Het
Gm4884	T	C	7: 40,693,716 (GRCm39)	S562P	probably damaging	Het
Gm9936	A	G	5: 114,995,408 (GRCm39)		probably benign	Het
Gpn2	C	A	4: 133,312,103 (GRCm39)	P112T	probably damaging	Het
Grm4	A	G	17: 27,650,549 (GRCm39)	Y816H	probably benign	Het
Helz2	A	T	2: 180,882,752 (GRCm39)	S14T	probably benign	Het
Htt	T	C	5: 34,977,448 (GRCm39)	L778P	probably benign	Het
Il11ra1	T	C	4: 41,765,060 (GRCm39)	S129P	probably damaging	Het
Ints11	T	C	4: 155,971,625 (GRCm39)	F315S	probably damaging	Het
Itga11	A	T	9: 62,683,895 (GRCm39)	N1059Y	possibly damaging	Het
Jak3	A	G	8: 72,136,971 (GRCm39)	S716G	probably damaging	Het
Kdm5d	A	T	Y: 941,715 (GRCm39)	K1305N	probably benign	Het
Kif26a	G	T	12: 112,144,314 (GRCm39)	V1523L	probably benign	Het
Mboat7	A	G	7: 3,686,821 (GRCm39)	S340P	probably damaging	Het
Mctp2	T	C	7: 71,879,156 (GRCm39)	I234V	probably benign	Het
Mex3c	G	A	18: 73,723,622 (GRCm39)	A572T	probably benign	Het
Mpp3	C	A	11: 101,896,251 (GRCm39)	R424L	probably benign	Het
Mroh4	T	A	15: 74,480,086 (GRCm39)		probably benign	Het
Myo9a	A	T	9: 59,767,489 (GRCm39)		probably benign	Het
Myog	T	A	1: 134,217,973 (GRCm39)	H60Q	probably damaging	Het
Nlrp9a	T	A	7: 26,270,650 (GRCm39)		probably null	Het
Notch1	A	G	2: 26,363,830 (GRCm39)	V868A	possibly damaging	Het
Or10g9b	A	T	9: 39,917,651 (GRCm39)	I198N	probably damaging	Het
Or1j20	A	G	2: 36,760,172 (GRCm39)	N198S	probably damaging	Het
Or1p1	T	A	11: 74,179,877 (GRCm39)	I135N	possibly damaging	Het
Or5d18	T	C	2: 87,864,610 (GRCm39)	Y291C	possibly damaging	Het
Pink1	T	C	4: 138,044,712 (GRCm39)	T342A	probably benign	Het
Plb1	T	A	5: 32,506,959 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,062,446 (GRCm39)	D2524G	probably damaging	Het
Plekhg4	G	T	8: 106,102,028 (GRCm39)	E6*	probably null	Het
Polq	T	C	16: 36,882,201 (GRCm39)	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,139,884 (GRCm39)		probably benign	Het
Prkaca	G	A	8: 84,714,932 (GRCm39)	M119I	possibly damaging	Het
Prss46	G	T	9: 110,679,123 (GRCm39)	S108I	probably damaging	Het
Ptma	C	T	1: 86,457,498 (GRCm39)		probably benign	Het
Rab11fip4	C	T	11: 79,580,479 (GRCm39)	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409 (GRCm39)	M437K	probably benign	Het
Rrn3	T	A	16: 13,630,977 (GRCm39)	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,239,231 (GRCm39)		probably benign	Het
Sis	A	G	3: 72,817,809 (GRCm39)	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,598,745 (GRCm39)	M1450V	probably benign	Het
Smg5	T	C	3: 88,256,540 (GRCm39)	S269P	probably benign	Het
Sntg1	T	C	1: 8,533,686 (GRCm39)	T323A	probably damaging	Het
Son	C	T	16: 91,448,550 (GRCm39)	T37I	probably damaging	Het
Stk17b	T	C	1: 53,803,291 (GRCm39)	I41M	probably benign	Het
Tgm5	T	A	2: 120,907,363 (GRCm39)	Y120F	probably damaging	Het
Tppp	A	G	13: 74,169,479 (GRCm39)	K73R	possibly damaging	Het
Ttn	C	A	2: 76,569,502 (GRCm39)	K27130N	probably damaging	Het
Ttn	C	T	2: 76,738,096 (GRCm39)	V4148I	probably benign	Het
Tut4	T	A	4: 108,388,152 (GRCm39)		probably benign	Het
Uba7	A	T	9: 107,855,448 (GRCm39)	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931 (GRCm39)	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,453,872 (GRCm39)		probably benign	Het
Zfp839	T	A	12: 110,834,820 (GRCm39)	S692T	possibly damaging	Het

Other mutations in Kcns1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- AAGCGATGCAGAAGTACTCCAGGC -3'
(R):5'- GGGATTTTAACCAACAGGGAGGCAC -3'

Sequencing Primer
(F):5'- AGCGAGTAGCCTGGATTCTC -3'
(R):5'- GAGGCACACTGTCGTAGC -3'

Posted On

2013-05-09