Mutagenetix > Incidental Mutation

Incidental Mutation 'R8726:Kcns3'

662445

Institutional Source

Beutler Lab

Gene Symbol

Kcns3

Ensembl Gene

ENSMUSG00000043673

Gene Name

potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3

Synonyms

D12Ertd137e

MMRRC Submission

068616-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R8726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11140738-11201186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11141692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 336 (S336P)

Ref Sequence

ENSEMBL: ENSMUSP00000060706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055673] [ENSMUST00000164495] [ENSMUST00000217974]

AlphaFold

Q8BQZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000055673
AA Change: S336P

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

SMART Domains

Protein: ENSMUSP00000060706
Gene: ENSMUSG00000043673
AA Change: S336P

Domain	Start	End	E-Value	Type
BTB	15	124	1.2e-12	SMART
low complexity region	144	162	N/A	INTRINSIC
Pfam:Ion_trans	184	417	5.2e-47	PFAM
Pfam:Ion_trans_2	325	411	3.2e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164495
AA Change: S336P

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

SMART Domains

Protein: ENSMUSP00000129412
Gene: ENSMUSG00000043673
AA Change: S336P

Domain	Start	End	E-Value	Type
BTB	15	124	1.2e-12	SMART
low complexity region	144	162	N/A	INTRINSIC
Pfam:Ion_trans	184	417	5.2e-47	PFAM
Pfam:Ion_trans_2	325	411	3.2e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217974
AA Change: S336P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (76/76)

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. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	A	G	11: 69,789,207 (GRCm39)	S331P	possibly damaging	Het
4930433I11Rik	A	G	7: 40,644,226 (GRCm39)	M632V	probably benign	Het
9930111J21Rik2	A	C	11: 48,910,507 (GRCm39)	V642G	probably damaging	Het
Abcd4	A	T	12: 84,651,171 (GRCm39)		probably benign	Het
Acsbg1	T	C	9: 54,525,462 (GRCm39)	E363G	probably damaging	Het
Ank3	T	A	10: 69,823,084 (GRCm39)	H584Q		Het
Ankrd11	A	T	8: 123,620,765 (GRCm39)	L1029Q	possibly damaging	Het
Anpep	C	T	7: 79,490,641 (GRCm39)	V292I	probably benign	Het
Atmin	G	A	8: 117,681,525 (GRCm39)	D175N	possibly damaging	Het
B4galt6	T	C	18: 20,821,450 (GRCm39)	I359M	possibly damaging	Het
Bicd2	A	G	13: 49,532,905 (GRCm39)	D497G	probably damaging	Het
Calcr	C	T	6: 3,707,489 (GRCm39)		probably benign	Het
Camkk2	G	T	5: 122,882,002 (GRCm39)	D418E	probably benign	Het
Cntn3	A	T	6: 102,146,014 (GRCm39)	Y942*	probably null	Het
Col8a1	C	T	16: 57,449,138 (GRCm39)	R124H	probably damaging	Het
Coro7	T	C	16: 4,486,619 (GRCm39)	T185A	possibly damaging	Het
Creb3	C	T	4: 43,566,747 (GRCm39)	P364S	probably benign	Het
Csf1r	A	T	18: 61,250,728 (GRCm39)	T480S	probably benign	Het
Csnk1g1	T	A	9: 65,909,553 (GRCm39)	H223Q	probably damaging	Het
Ctns	C	T	11: 73,078,613 (GRCm39)	V171M	probably benign	Het
Dhx15	A	T	5: 52,311,568 (GRCm39)	N637K	probably benign	Het
Eif4g1	T	C	16: 20,494,232 (GRCm39)	Y103H	probably damaging	Het
Eif4g2	C	T	7: 110,676,629 (GRCm39)	R295H	probably damaging	Het
Fat1	C	T	8: 45,477,206 (GRCm39)	P2084L	probably benign	Het
Fat4	A	G	3: 39,064,647 (GRCm39)	R4868G	probably damaging	Het
Fbxo31	A	T	8: 122,282,014 (GRCm39)	Y295*	probably null	Het
Fmn2	C	A	1: 174,437,404 (GRCm39)	T1125N	possibly damaging	Het
Foxi2	C	A	7: 135,012,133 (GRCm39)	P7Q	probably damaging	Het
Hmx1	C	T	5: 35,549,100 (GRCm39)	P131L	probably damaging	Het
Hrh2	T	C	13: 54,368,171 (GRCm39)	L49P	probably damaging	Het
Hycc2	T	C	1: 58,585,285 (GRCm39)	T171A	possibly damaging	Het
Igkv6-14	A	G	6: 70,412,125 (GRCm39)	V53A	possibly damaging	Het
Kcnb2	C	A	1: 15,780,876 (GRCm39)	Q583K	probably benign	Het
Kremen2	G	T	17: 23,961,720 (GRCm39)	F262L	probably damaging	Het
Krtap9-1	T	A	11: 99,764,577 (GRCm39)	C104*	probably null	Het
Ky	A	G	9: 102,405,102 (GRCm39)	Y199C	probably damaging	Het
L1td1	T	G	4: 98,622,215 (GRCm39)	L259R	probably damaging	Het
Lrba	A	G	3: 86,261,062 (GRCm39)	T1473A	probably benign	Het
Lrp6	A	T	6: 134,484,624 (GRCm39)	L333*	probably null	Het
Lrrc23	T	C	6: 124,753,043 (GRCm39)	N201S	probably benign	Het
Map4k4	C	A	1: 40,043,142 (GRCm39)	P666T	possibly damaging	Het
Matn1	T	A	4: 130,679,514 (GRCm39)	D389E	probably damaging	Het
Mdc1	G	T	17: 36,158,475 (GRCm39)	G285V	probably benign	Het
Mettl17	T	C	14: 52,128,187 (GRCm39)		probably null	Het
Mknk1	A	T	4: 115,730,506 (GRCm39)		probably benign	Het
Neurod1	A	T	2: 79,284,430 (GRCm39)	F318I	possibly damaging	Het
Nfya	T	C	17: 48,699,445 (GRCm39)	T213A	probably damaging	Het
Nmrk1	C	T	19: 18,616,902 (GRCm39)	T17M	probably damaging	Het
Ntrk1	A	C	3: 87,693,396 (GRCm39)	D245E	probably benign	Het
Nup160	C	A	2: 90,563,545 (GRCm39)	H1370Q	possibly damaging	Het
Or11h6	A	C	14: 50,880,703 (GRCm39)	K316Q	probably benign	Het
Or5w8	T	C	2: 87,688,161 (GRCm39)	V214A	probably benign	Het
Or6x1	T	A	9: 40,098,663 (GRCm39)	V84E	probably damaging	Het
Parp4	G	A	14: 56,866,556 (GRCm39)	R1040H	probably benign	Het
Pdia4	C	A	6: 47,785,200 (GRCm39)	E56*	probably null	Het
Pdia5	A	G	16: 35,269,784 (GRCm39)	F175S	probably damaging	Het
Piezo2	C	T	18: 63,242,956 (GRCm39)	S621N	probably benign	Het
Pigw	T	C	11: 84,768,643 (GRCm39)	T229A	possibly damaging	Het
Rasa3	T	C	8: 13,626,381 (GRCm39)	Y734C	probably benign	Het
Rfx7	T	A	9: 72,500,505 (GRCm39)		probably benign	Het
Rims1	T	C	1: 22,633,181 (GRCm39)	D178G	possibly damaging	Het
Ros1	A	G	10: 51,954,769 (GRCm39)	V1853A	possibly damaging	Het
Rps7	A	G	12: 28,681,714 (GRCm39)	I139T	probably benign	Het
Sall3	T	C	18: 81,029,708 (GRCm39)	D15G	possibly damaging	Het
Scn1a	A	T	2: 66,133,983 (GRCm39)	V137D	probably benign	Het
Slc23a3	G	A	1: 75,106,173 (GRCm39)	P349S	probably benign	Het
Slc35a5	C	G	16: 44,964,021 (GRCm39)	R404P	probably damaging	Het
Stard13	A	T	5: 150,986,607 (GRCm39)	M301K	probably benign	Het
Suclg2	A	G	6: 95,632,489 (GRCm39)	F60S	probably damaging	Het
Tecpr2	T	A	12: 110,904,668 (GRCm39)	F887L	possibly damaging	Het
Tekt4	G	T	17: 25,691,033 (GRCm39)	W113L	probably damaging	Het
Tep1	G	A	14: 51,085,080 (GRCm39)	S901F	probably damaging	Het
Tex11	C	T	X: 100,059,191 (GRCm39)	V190I	possibly damaging	Het
Thbs1	T	A	2: 117,949,957 (GRCm39)		probably null	Het
Tm9sf4	T	A	2: 153,040,295 (GRCm39)	V425D	probably damaging	Het
Tpo	A	G	12: 30,105,137 (GRCm39)	L911P	possibly damaging	Het
Ttn	T	C	2: 76,729,301 (GRCm39)	Q5332R	unknown	Het
Wdr59	A	T	8: 112,223,466 (GRCm39)	D169E		Het
Zfp799	C	A	17: 33,039,166 (GRCm39)	G367C	probably damaging	Het

Other mutations in Kcns3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Kcns3	APN	12	11,142,427 (GRCm39)	missense	probably benign	0.40
IGL01089:Kcns3	APN	12	11,141,572 (GRCm39)	missense	possibly damaging	0.92
IGL01448:Kcns3	APN	12	11,141,644 (GRCm39)	missense	possibly damaging	0.91
IGL02084:Kcns3	APN	12	11,142,195 (GRCm39)	missense	probably damaging	0.96
IGL02229:Kcns3	APN	12	11,142,093 (GRCm39)	missense	probably damaging	1.00
IGL02730:Kcns3	APN	12	11,142,076 (GRCm39)	missense	probably benign
IGL02820:Kcns3	APN	12	11,141,872 (GRCm39)	missense	probably benign	0.01
IGL03390:Kcns3	APN	12	11,141,233 (GRCm39)	missense	probably benign
PIT4696001:Kcns3	UTSW	12	11,142,749 (GRCm39)	start gained	probably benign
R0583:Kcns3	UTSW	12	11,141,479 (GRCm39)	missense	probably damaging	1.00
R0629:Kcns3	UTSW	12	11,142,559 (GRCm39)	missense	probably damaging	1.00
R1549:Kcns3	UTSW	12	11,142,084 (GRCm39)	missense	probably damaging	1.00
R1571:Kcns3	UTSW	12	11,141,551 (GRCm39)	missense	probably damaging	1.00
R1755:Kcns3	UTSW	12	11,141,445 (GRCm39)	missense	probably benign	0.09
R2507:Kcns3	UTSW	12	11,142,087 (GRCm39)	missense	possibly damaging	0.67
R4348:Kcns3	UTSW	12	11,141,382 (GRCm39)	missense	possibly damaging	0.85
R4667:Kcns3	UTSW	12	11,141,784 (GRCm39)	missense	probably damaging	1.00
R4750:Kcns3	UTSW	12	11,141,655 (GRCm39)	missense	probably damaging	1.00
R5704:Kcns3	UTSW	12	11,142,328 (GRCm39)	missense	probably benign	0.05
R5770:Kcns3	UTSW	12	11,142,250 (GRCm39)	missense	probably benign	0.15
R6882:Kcns3	UTSW	12	11,142,049 (GRCm39)	missense	probably benign	0.00
R7014:Kcns3	UTSW	12	11,141,688 (GRCm39)	missense	probably damaging	1.00
R7935:Kcns3	UTSW	12	11,141,718 (GRCm39)	missense	probably damaging	1.00
R8025:Kcns3	UTSW	12	11,141,846 (GRCm39)	missense	probably damaging	1.00
R8161:Kcns3	UTSW	12	11,169,764 (GRCm39)	start gained	probably benign
R8210:Kcns3	UTSW	12	11,142,253 (GRCm39)	missense	probably damaging	0.97
R8403:Kcns3	UTSW	12	11,141,654 (GRCm39)	missense	probably benign	0.09
R9175:Kcns3	UTSW	12	11,169,801 (GRCm39)	start gained	probably benign
R9287:Kcns3	UTSW	12	11,141,601 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGGAGGGCTACCACTAAGATTC -3'
(R):5'- TGCTGCTCCATCACAAAAGAAG -3'

Sequencing Primer
(F):5'- CCACAGATAATACATGTGCTTGC -3'
(R):5'- GAAGTTCTGGAAAAACCCTCTG -3'

Posted On

2021-03-08