Mutagenetix > Incidental Mutation

Incidental Mutation 'R1755:Kcns3'

194793

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

039787-MU

Accession Numbers

Essential gene?

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

Stock #

R1755 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11140738-11201186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11141445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 418 (D418V)

Ref Sequence

ENSEMBL: ENSMUSP00000152026 (fasta)

Gene Model

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

AlphaFold

Q8BQZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000055673
AA Change: D418V

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000060706
Gene: ENSMUSG00000043673
AA Change: D418V

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 benign
Transcript: ENSMUST00000164495
AA Change: D418V

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000129412
Gene: ENSMUSG00000043673
AA Change: D418V

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 benign
Transcript: ENSMUST00000217974
AA Change: D418V

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	G	A	8: 88,315,585 (GRCm39)	R225H	possibly damaging	Het
9330159F19Rik	A	T	10: 29,098,290 (GRCm39)	H199L	possibly damaging	Het
Acaca	AC	A	11: 84,167,390 (GRCm39)		probably null	Het
Adam23	G	A	1: 63,582,329 (GRCm39)	V326M	probably damaging	Het
Aldh1a2	T	A	9: 71,169,023 (GRCm39)	Y168*	probably null	Het
Ano6	A	G	15: 95,870,451 (GRCm39)	K869E	possibly damaging	Het
Aplp2	G	A	9: 31,088,400 (GRCm39)	A106V	probably damaging	Het
Arhgdib	T	A	6: 136,906,612 (GRCm39)	K30*	probably null	Het
Arl11	A	G	14: 61,548,393 (GRCm39)	T68A	probably benign	Het
Atg7	A	G	6: 114,650,638 (GRCm39)	T83A	possibly damaging	Het
Card9	T	C	2: 26,249,546 (GRCm39)	E5G	probably damaging	Het
Cars1	A	G	7: 143,123,194 (GRCm39)	V474A	probably damaging	Het
Cd300ld2	A	G	11: 114,904,601 (GRCm39)	F89L	probably benign	Het
Celf2	T	A	2: 6,889,769 (GRCm39)	M1L	probably benign	Het
Cnot1	T	C	8: 96,451,205 (GRCm39)	D2174G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cox6b2	A	G	7: 4,754,937 (GRCm39)	F74S	probably damaging	Het
Cyp11b1	T	A	15: 74,710,383 (GRCm39)	Q306L	probably benign	Het
Ddx3y	A	G	Y: 1,279,543 (GRCm39)	I107T	probably benign	Het
Dnah5	A	T	15: 28,326,782 (GRCm39)	Y1997F	probably damaging	Het
Dync2i1	A	G	12: 116,189,649 (GRCm39)	L620P	probably damaging	Het
Epha4	A	T	1: 77,364,460 (GRCm39)	I683N	probably damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gmip	A	G	8: 70,266,774 (GRCm39)	I296M	probably damaging	Het
Gpr37l1	A	G	1: 135,094,639 (GRCm39)	S202P	probably damaging	Het
Ifi208	C	A	1: 173,505,476 (GRCm39)	D75E	possibly damaging	Het
Il24	T	C	1: 130,811,680 (GRCm39)	N132S	possibly damaging	Het
Katnal2	A	G	18: 77,099,763 (GRCm39)	C124R	probably benign	Het
Kcnq3	A	T	15: 65,867,270 (GRCm39)	L791Q	probably damaging	Het
Kif13a	A	G	13: 46,906,089 (GRCm39)	V618A	possibly damaging	Het
Kif13a	A	T	13: 46,927,154 (GRCm39)	V1179E	possibly damaging	Het
Lpp	A	G	16: 24,663,874 (GRCm39)	I259V	probably benign	Het
Mapkapk2	A	G	1: 130,986,087 (GRCm39)		probably null	Het
Marchf7	T	C	2: 60,065,265 (GRCm39)	S514P	probably benign	Het
Nr4a2	T	A	2: 56,999,104 (GRCm39)	L381F	probably damaging	Het
Nt5dc3	A	G	10: 86,660,115 (GRCm39)	D328G	probably damaging	Het
Obox6	T	C	7: 15,568,445 (GRCm39)	K144E	probably damaging	Het
Oga	A	T	19: 45,746,845 (GRCm39)	M735K	possibly damaging	Het
Olfml2b	G	A	1: 170,509,346 (GRCm39)	V565M	probably damaging	Het
Or1d2	T	C	11: 74,255,819 (GRCm39)	V108A	probably damaging	Het
Orc3	G	A	4: 34,575,114 (GRCm39)	A590V	possibly damaging	Het
Picalm	T	C	7: 89,809,757 (GRCm39)	S78P	possibly damaging	Het
Por	T	A	5: 135,758,339 (GRCm39)	Y105*	probably null	Het
Ppara	A	G	15: 85,682,180 (GRCm39)	K292R	probably benign	Het
Pramel27	T	C	4: 143,577,380 (GRCm39)	F3S	probably damaging	Het
Prss59	T	G	6: 40,903,096 (GRCm39)	Y92S	probably damaging	Het
Ralgds	T	A	2: 28,440,558 (GRCm39)	I844N	probably damaging	Het
Rttn	T	C	18: 89,027,441 (GRCm39)	Y519H	probably damaging	Het
Scn9a	A	G	2: 66,332,060 (GRCm39)	V1261A	probably benign	Het
Slc2a2	T	A	3: 28,767,811 (GRCm39)		probably null	Het
Slc5a7	T	C	17: 54,600,006 (GRCm39)	M136V	probably benign	Het
Smc4	C	A	3: 68,941,441 (GRCm39)	A1232E	probably damaging	Het
Smg1	A	T	7: 117,802,287 (GRCm39)	C270*	probably null	Het
Sparcl1	C	T	5: 104,240,690 (GRCm39)	E245K	probably benign	Het
Taf2	T	C	15: 54,879,850 (GRCm39)	H1162R	probably damaging	Het
Tlr3	T	C	8: 45,851,010 (GRCm39)	D105G	probably benign	Het
Tmem62	T	C	2: 120,814,958 (GRCm39)		probably null	Het
Triobp	G	A	15: 78,850,679 (GRCm39)	A278T	probably benign	Het
Ufd1	T	G	16: 18,642,003 (GRCm39)	C151W	probably damaging	Het
Upk1b	T	G	16: 38,600,402 (GRCm39)	M193L	probably benign	Het
Usp15	A	G	10: 122,968,949 (GRCm39)	M334T	probably damaging	Het
Utp20	A	G	10: 88,645,631 (GRCm39)	S541P	probably benign	Het
Vmn1r61	A	T	7: 5,614,302 (GRCm39)	L4*	probably null	Het
Vmn2r96	G	A	17: 18,802,915 (GRCm39)	G83D	possibly damaging	Het
Zbtb8a	T	C	4: 129,248,110 (GRCm39)	D387G	possibly damaging	Het
Zfp106	A	T	2: 120,365,656 (GRCm39)	N250K	probably damaging	Het
Zfp292	A	G	4: 34,811,043 (GRCm39)	V667A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGTCTTCAACGCTCGAAGCATCTG -3'
(R):5'- AGTTACCATGAGGTGGGGCTACTG -3'

Sequencing Primer
(F):5'- CTCGAAGCATCTGTGGAGTCAG -3'
(R):5'- AGCATCCCCATCTGCTGG -3'

Posted On

2014-05-23