Mutagenetix > Incidental Mutation

Incidental Mutation 'R7935:Kcns3'

648696

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

045981-MU

Accession Numbers

Essential gene?

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

Stock #

R7935 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11140738-11201186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 11141718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 327 (L327R)

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: L327R

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

SMART Domains

Protein: ENSMUSP00000060706
Gene: ENSMUSG00000043673
AA Change: L327R

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: L327R

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

SMART Domains

Protein: ENSMUSP00000129412
Gene: ENSMUSG00000043673
AA Change: L327R

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: L327R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,308,732 (GRCm39)	V124A	probably benign	Het
Abca4	A	G	3: 121,904,186 (GRCm39)	M746V	possibly damaging	Het
Aldh18a1	G	T	19: 40,562,226 (GRCm39)	S266*	probably null	Het
Aldh1b1	C	A	4: 45,802,968 (GRCm39)	H169N	probably benign	Het
Anpep	A	G	7: 79,476,709 (GRCm39)	I756T	possibly damaging	Het
Asb16	A	T	11: 102,168,739 (GRCm39)	E405V	probably benign	Het
B4galnt1	T	A	10: 127,007,490 (GRCm39)	F464I	probably damaging	Het
Bpifb5	A	G	2: 154,070,975 (GRCm39)	I225V	probably benign	Het
Brox	T	C	1: 183,062,484 (GRCm39)	E290G	probably damaging	Het
Cacna1s	T	A	1: 136,020,333 (GRCm39)	V790D	possibly damaging	Het
Cacng6	G	T	7: 3,473,384 (GRCm39)	K69N	possibly damaging	Het
Catsperg1	A	G	7: 28,895,344 (GRCm39)	I503T	possibly damaging	Het
Cdcp3	A	G	7: 130,852,205 (GRCm39)	N814D	probably damaging	Het
Celsr3	A	C	9: 108,706,840 (GRCm39)	M1108L	probably benign	Het
Chd2	T	C	7: 73,149,373 (GRCm39)	N449S	probably benign	Het
Cpne6	T	C	14: 55,750,066 (GRCm39)	C66R	possibly damaging	Het
Ctnna2	T	C	6: 76,919,270 (GRCm39)	E656G	probably damaging	Het
Dnah17	A	T	11: 118,018,048 (GRCm39)	M149K	probably benign	Het
Dpp8	A	T	9: 64,944,262 (GRCm39)	M10L	possibly damaging	Het
Dst	T	C	1: 34,329,486 (GRCm39)	L4838P	probably damaging	Het
Eif4g3	T	A	4: 137,824,082 (GRCm39)	I55N	probably damaging	Het
Gm10750	A	G	2: 148,858,017 (GRCm39)	L78P	unknown	Het
Gulo	T	G	14: 66,237,288 (GRCm39)	K200Q	probably benign	Het
Jmjd8	T	A	17: 26,048,071 (GRCm39)	L56Q	probably benign	Het
Kansl1	G	T	11: 104,315,112 (GRCm39)	Q309K	probably damaging	Het
Mapk10	A	G	5: 103,139,792 (GRCm39)	I153T	possibly damaging	Het
Muc5b	G	T	7: 141,400,569 (GRCm39)	M513I	unknown	Het
Nbea	A	G	3: 55,966,086 (GRCm39)	F459L	probably damaging	Het
Nrcam	G	A	12: 44,631,644 (GRCm39)	V1066I	possibly damaging	Het
Numa1	A	G	7: 101,651,538 (GRCm39)	K178E	probably damaging	Het
Or4b1	C	T	2: 89,979,928 (GRCm39)	V141M	probably benign	Het
Or5au1	T	C	14: 52,272,645 (GRCm39)	K308E	probably benign	Het
Or5d14	G	A	2: 87,880,290 (GRCm39)	T226M	probably damaging	Het
Pabpc4	C	T	4: 123,191,837 (GRCm39)	A649V	probably benign	Het
Parp12	C	A	6: 39,079,612 (GRCm39)	K299N	possibly damaging	Het
Pcdhga7	A	G	18: 37,849,562 (GRCm39)	D523G	possibly damaging	Het
Polr2a	T	C	11: 69,638,330 (GRCm39)	T79A	probably benign	Het
Ppp1r7	T	C	1: 93,273,904 (GRCm39)	S27P	probably damaging	Het
Pramel42	G	T	5: 94,685,440 (GRCm39)	D367Y	probably damaging	Het
Prol1	T	G	5: 88,475,874 (GRCm39)	L88R	probably damaging	Het
Ptpn6	T	C	6: 124,709,425 (GRCm39)	Q57R	possibly damaging	Het
Rdh16	A	G	10: 127,637,334 (GRCm39)	I90V	probably benign	Het
Rock2	T	A	12: 16,998,558 (GRCm39)	C275S	probably damaging	Het
Rp1l1	G	T	14: 64,268,674 (GRCm39)	R1420L	probably damaging	Het
Sav1	A	G	12: 70,033,481 (GRCm39)	Y21H	probably damaging	Het
Sec24a	T	C	11: 51,612,749 (GRCm39)	N536S	probably benign	Het
Serpina9	A	C	12: 103,964,421 (GRCm39)	F339V	probably damaging	Het
Slc6a13	T	G	6: 121,311,450 (GRCm39)	L369V	possibly damaging	Het
Smarcd3	A	T	5: 24,801,024 (GRCm39)	F128I	probably damaging	Het
Smok2a	A	T	17: 13,444,599 (GRCm39)	I59F	probably damaging	Het
Spaca9	A	G	2: 28,583,634 (GRCm39)		probably null	Het
Ssx2ip	A	T	3: 146,124,928 (GRCm39)	E84D	probably benign	Het
Syt12	A	T	19: 4,497,830 (GRCm39)	V384E	probably benign	Het
Ticrr	T	A	7: 79,331,584 (GRCm39)	L727Q	probably damaging	Het
Tmem170b	A	G	13: 41,781,463 (GRCm39)	Y36C	probably damaging	Het
Tpd52l1	T	C	10: 31,214,201 (GRCm39)	T161A	probably damaging	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp512b	T	C	2: 181,231,689 (GRCm39)	T164A	probably damaging	Het
Zfp521	G	A	18: 13,977,549 (GRCm39)	P955S	probably damaging	Het
Zfp770	C	T	2: 114,027,305 (GRCm39)	V255I	probably benign	Het
Zfp942	A	T	17: 22,148,208 (GRCm39)	C140*	probably null	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
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'- GCTTGCAATGATTTTCCCAGC -3'
(R):5'- ACCCTCTGAACATCATTGACTTTG -3'

Sequencing Primer
(F):5'- GCAATGATTTTCCCAGCTAAGGTGAC -3'
(R):5'- ATTCCCTTCTATGCCACGTTGG -3'

Posted On

2020-09-15