Mutagenetix > Incidental Mutation

Incidental Mutation 'R0629:Kcns3'

57773

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

038818-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R0629 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11090202-11151056 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 11092558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 47 (C47G)

Ref Sequence

ENSEMBL: ENSMUSP00000152026 (fasta)

Gene Model

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

AlphaFold

Q8BQZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000055673
AA Change: C47G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000060706
Gene: ENSMUSG00000043673
AA Change: C47G

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: C47G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129412
Gene: ENSMUSG00000043673
AA Change: C47G

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: C47G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.7899

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

100% (66/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,507,547	D86V	probably damaging	Het
Adamts14	G	A	10: 61,211,624	Q733*	probably null	Het
Adcy10	A	G	1: 165,543,105	D651G	probably damaging	Het
Apcdd1	T	A	18: 62,933,970	C52S	probably damaging	Het
Bclaf1	T	C	10: 20,333,426	S463P	probably damaging	Het
Cabcoco1	T	C	10: 68,516,278	Y68C	probably damaging	Het
Cacna1f	G	A	X: 7,620,434	S888N	probably damaging	Het
Cacna1g	A	G	11: 94,409,543	C2134R	possibly damaging	Het
Cdc37	A	C	9: 21,140,768	M325R	possibly damaging	Het
Clca2	T	A	3: 145,072,239	M762L	probably benign	Het
Cntn3	C	T	6: 102,203,976	V753M	probably damaging	Het
Col6a6	A	T	9: 105,727,165		probably benign	Het
Dscaml1	A	G	9: 45,721,418	D1194G	probably damaging	Het
Egfr	G	A	11: 16,869,333	G288S	probably damaging	Het
Fbxl17	G	T	17: 63,471,414	N19K	probably damaging	Het
Fmo3	A	G	1: 162,958,227		probably benign	Het
Frmd6	T	C	12: 70,883,762	Y219H	probably damaging	Het
Fuca1	T	C	4: 135,925,644	V193A	possibly damaging	Het
Gm1141	G	C	X: 71,938,773	R296P	possibly damaging	Het
Gm7461	C	T	8: 4,677,769		noncoding transcript	Het
Gpc5	T	A	14: 115,552,239	N508K	possibly damaging	Het
Iqch	A	T	9: 63,425,382	D1019E	probably benign	Het
Isyna1	A	G	8: 70,594,708	Y27C	probably damaging	Het
Itgb8	T	G	12: 119,202,481	H105P	probably benign	Het
Kbtbd11	C	T	8: 15,027,572	P57L	probably benign	Het
Kif21b	A	T	1: 136,172,157		probably null	Het
Lama3	A	T	18: 12,419,245	H418L	possibly damaging	Het
Lrit3	A	G	3: 129,788,302	Y679H	probably damaging	Het
Lrrc19	T	A	4: 94,638,252	D356V	probably damaging	Het
Morc2b	A	G	17: 33,135,807	M997T	probably benign	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Mtcl1	A	T	17: 66,338,142	S1886T	possibly damaging	Het
Muc20	T	C	16: 32,793,421	T529A	possibly damaging	Het
Myo7a	A	C	7: 98,085,466	L607R	probably damaging	Het
Myom2	T	A	8: 15,069,783	F180I	probably damaging	Het
Myt1l	G	A	12: 29,811,485	E89K	unknown	Het
Nek2	A	G	1: 191,831,317	N431S	probably benign	Het
Olfr1086	T	A	2: 86,676,529	H268L	possibly damaging	Het
Olfr169	A	T	16: 19,565,980	V301E	possibly damaging	Het
Oprm1	A	T	10: 6,832,604		probably null	Het
Oxsr1	A	G	9: 119,241,784		probably benign	Het
Pdgfrb	G	A	18: 61,078,648		probably null	Het
Proser1	C	A	3: 53,479,064	P789Q	probably benign	Het
Ptgs2	A	G	1: 150,101,037	Q7R	probably benign	Het
Rab3d	A	G	9: 21,914,686	V144A	probably benign	Het
Ralgapb	T	A	2: 158,439,547	L167H	probably damaging	Het
Ranbp3	A	G	17: 56,708,200	T301A	possibly damaging	Het
Rasgrf1	G	A	9: 89,984,269	V587M	probably damaging	Het
Sec16b	A	G	1: 157,564,863		probably benign	Het
Sin3b	T	C	8: 72,753,536		probably benign	Het
Slc10a2	T	C	8: 5,098,562	S128G	probably benign	Het
Tbl1xr1	G	A	3: 22,210,401	V507I	probably benign	Het
Tmem8b	T	G	4: 43,669,896		probably null	Het
Trak1	A	T	9: 121,367,167	T22S	probably benign	Het
Trim30d	A	G	7: 104,487,655	I114T	probably damaging	Het
Ttc13	A	T	8: 124,674,366	S624T	probably damaging	Het
Ttn	T	C	2: 76,828,130		probably benign	Het
Vipr1	T	A	9: 121,660,171	Y99*	probably null	Het
Vmn1r210	T	C	13: 22,827,874	K81E	probably damaging	Het
Wwc1	T	C	11: 35,853,472	Y841C	probably benign	Het
Xrcc4	A	G	13: 90,000,905		probably benign	Het
Zdhhc22	A	T	12: 86,988,297	I127N	probably damaging	Het
Zdhhc7	A	G	8: 120,088,046	L8P	possibly damaging	Het
Zfp664	C	A	5: 124,885,595	L18I	probably damaging	Het

Other mutations in Kcns3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Kcns3	APN	12	11092426	missense	probably benign	0.40
IGL01089:Kcns3	APN	12	11091571	missense	possibly damaging	0.92
IGL01448:Kcns3	APN	12	11091643	missense	possibly damaging	0.91
IGL02084:Kcns3	APN	12	11092194	missense	probably damaging	0.96
IGL02229:Kcns3	APN	12	11092092	missense	probably damaging	1.00
IGL02730:Kcns3	APN	12	11092075	missense	probably benign
IGL02820:Kcns3	APN	12	11091871	missense	probably benign	0.01
IGL03390:Kcns3	APN	12	11091232	missense	probably benign
PIT4696001:Kcns3	UTSW	12	11092748	start gained	probably benign
R0583:Kcns3	UTSW	12	11091478	missense	probably damaging	1.00
R1549:Kcns3	UTSW	12	11092083	missense	probably damaging	1.00
R1571:Kcns3	UTSW	12	11091550	missense	probably damaging	1.00
R1755:Kcns3	UTSW	12	11091444	missense	probably benign	0.09
R2507:Kcns3	UTSW	12	11092086	missense	possibly damaging	0.67
R4348:Kcns3	UTSW	12	11091381	missense	possibly damaging	0.85
R4667:Kcns3	UTSW	12	11091783	missense	probably damaging	1.00
R4750:Kcns3	UTSW	12	11091654	missense	probably damaging	1.00
R5704:Kcns3	UTSW	12	11092327	missense	probably benign	0.05
R5770:Kcns3	UTSW	12	11092249	missense	probably benign	0.15
R6882:Kcns3	UTSW	12	11092048	missense	probably benign	0.00
R7014:Kcns3	UTSW	12	11091687	missense	probably damaging	1.00
R7935:Kcns3	UTSW	12	11091717	missense	probably damaging	1.00
R8025:Kcns3	UTSW	12	11091845	missense	probably damaging	1.00
R8161:Kcns3	UTSW	12	11119763	start gained	probably benign
R8210:Kcns3	UTSW	12	11092252	missense	probably damaging	0.97
R8403:Kcns3	UTSW	12	11091653	missense	probably benign	0.09
R8726:Kcns3	UTSW	12	11091691	missense	probably damaging	1.00
R9175:Kcns3	UTSW	12	11119800	start gained	probably benign
R9287:Kcns3	UTSW	12	11091600	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGAGTCTGTGCTCACATCGTTGC -3'
(R):5'- AGTCAGGCCATTCTCCCACAAAGG -3'

Sequencing Primer
(F):5'- CTGCTACAGCAGGAGTCAATG -3'
(R):5'- GCACAGGCTAATATTGTCTTGTC -3'

Posted On

2013-07-11