Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01448:Kcns3'

84523

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcns3

Ensembl Gene

ENSMUSG00000043673

Gene Name

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

Synonyms

D12Ertd137e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

IGL01448

Quality Score

Status

Chromosome

Chromosomal Location

11140738-11201186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 11141644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 352 (S352A)

Ref Sequence

ENSEMBL: ENSMUSP00000152026 (fasta)

Gene Model

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

AlphaFold

Q8BQZ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055673
AA Change: S352A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060706
Gene: ENSMUSG00000043673
AA Change: S352A

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

possibly damaging
Transcript: ENSMUST00000164495
AA Change: S352A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129412
Gene: ENSMUSG00000043673
AA Change: S352A

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

possibly damaging
Transcript: ENSMUST00000217974
AA Change: S352A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	T	2: 130,247,767 (GRCm39)	E75D	possibly damaging	Het
1700084J12Rik	A	G	15: 33,405,779 (GRCm39)		probably benign	Het
2610303G11Rik	T	A	9: 98,068,762 (GRCm39)		noncoding transcript	Het
4931414P19Rik	T	C	14: 54,823,417 (GRCm39)	D320G	possibly damaging	Het
Adamts6	G	A	13: 104,433,672 (GRCm39)	E34K	probably damaging	Het
Alms1	T	A	6: 85,654,881 (GRCm39)	N3142K	possibly damaging	Het
Anapc7	G	A	5: 122,566,276 (GRCm39)	A62T	probably damaging	Het
Atp8b3	G	A	10: 80,356,256 (GRCm39)	P1152L	probably benign	Het
Cc2d2a	C	T	5: 43,841,527 (GRCm39)	T181I	possibly damaging	Het
Celsr2	A	G	3: 108,300,555 (GRCm39)	L2835P	probably damaging	Het
Ctns	A	T	11: 73,079,548 (GRCm39)	V99D	possibly damaging	Het
Dchs1	T	C	7: 105,421,134 (GRCm39)	R429G	probably damaging	Het
Ddx11	T	C	17: 66,441,132 (GRCm39)	V218A	probably damaging	Het
Eftud2	G	A	11: 102,756,389 (GRCm39)		probably benign	Het
Erich1	G	T	8: 14,128,853 (GRCm39)	T29N	possibly damaging	Het
Exosc8	T	C	3: 54,636,686 (GRCm39)	E215G	probably damaging	Het
Fam184a	G	T	10: 53,575,045 (GRCm39)	A188E	probably benign	Het
Fign	A	G	2: 63,810,032 (GRCm39)	S413P	probably damaging	Het
Fkbp6	A	G	5: 135,378,550 (GRCm39)	S33P	probably damaging	Het
Glb1	A	G	9: 114,279,745 (GRCm39)		probably benign	Het
H2-Q1	T	C	17: 35,542,437 (GRCm39)		probably benign	Het
Helz2	T	C	2: 180,875,770 (GRCm39)	T1575A	probably damaging	Het
Il18r1	A	G	1: 40,513,890 (GRCm39)	E32G	probably damaging	Het
Ints5	C	T	19: 8,872,851 (GRCm39)	P270L	possibly damaging	Het
Itga7	G	T	10: 128,785,337 (GRCm39)	E847*	probably null	Het
Kiz	A	G	2: 146,705,721 (GRCm39)	K94E	probably benign	Het
Lin7b	C	T	7: 45,018,624 (GRCm39)	V12M	probably damaging	Het
Myo18b	A	T	5: 112,959,570 (GRCm39)	I1409N	probably damaging	Het
Myo5b	A	G	18: 74,777,161 (GRCm39)	H407R	probably damaging	Het
Nelfa	T	C	5: 34,056,146 (GRCm39)	T506A	probably damaging	Het
Or10p21	A	G	10: 128,847,729 (GRCm39)	T192A	probably damaging	Het
Or4d5	A	T	9: 40,012,378 (GRCm39)	M136K	probably damaging	Het
Or5p72	T	A	7: 108,022,235 (GRCm39)	Y152*	probably null	Het
Or6c69	A	G	10: 129,748,114 (GRCm39)	I11T	possibly damaging	Het
Pclo	A	C	5: 14,726,408 (GRCm39)		probably benign	Het
Pes1	G	A	11: 3,927,979 (GRCm39)	E544K	possibly damaging	Het
Rabgap1l	A	G	1: 160,568,315 (GRCm39)		probably benign	Het
Rapgef2	T	C	3: 78,976,244 (GRCm39)	M1521V	probably benign	Het
Rapgef2	C	T	3: 79,011,269 (GRCm39)		probably null	Het
Reln	A	G	5: 22,245,403 (GRCm39)	V735A	probably benign	Het
Slc2a4	A	G	11: 69,835,902 (GRCm39)	S316P	possibly damaging	Het
Smarce1	C	T	11: 99,101,013 (GRCm39)	G373E	possibly damaging	Het
Spata31d1a	T	A	13: 59,849,373 (GRCm39)	R918S	probably benign	Het
St3gal4	T	C	9: 34,963,627 (GRCm39)	K227R	probably benign	Het
Stra6l	T	A	4: 45,864,864 (GRCm39)		probably null	Het
Stxbp5l	T	C	16: 37,036,341 (GRCm39)	I425V	probably damaging	Het
Tcaf2	T	C	6: 42,607,262 (GRCm39)	T231A	probably benign	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tnks	A	G	8: 35,307,136 (GRCm39)	Y1138H	probably damaging	Het
Vezt	T	A	10: 93,832,719 (GRCm39)	I231F	probably damaging	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Zbed3	A	G	13: 95,473,142 (GRCm39)	K189E	possibly damaging	Het
Zfp512b	T	C	2: 181,229,578 (GRCm39)	T625A	possibly damaging	Het
Zfp827	A	T	8: 79,787,362 (GRCm39)	Q176L	possibly 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
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
R8726:Kcns3	UTSW	12	11,141,692 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-11-11