Mutagenetix > Incidental Mutation

Incidental Mutation 'R5775:Kcns1'

448708

Institutional Source

Beutler Lab

Gene Symbol

Kcns1

Ensembl Gene

ENSMUSG00000040164

Gene Name

K+ voltage-gated channel, subfamily S, 1

Synonyms

Kv9.1

MMRRC Submission

043374-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R5775 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

164005539-164013033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164006686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 426 (I426V)

Ref Sequence

ENSEMBL: ENSMUSP00000038901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045196]

AlphaFold

O35173

Predicted Effect

probably damaging
Transcript: ENSMUST00000045196
AA Change: I426V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038901
Gene: ENSMUSG00000040164
AA Change: I426V

Domain	Start	End	E-Value	Type
BTB	19	128	7.07e-7	SMART
low complexity region	160	175	N/A	INTRINSIC
Pfam:Ion_trans	188	439	2e-44	PFAM
Pfam:Ion_trans_2	349	433	5e-13	PFAM
low complexity region	455	468	N/A	INTRINSIC

Meta Mutation Damage Score

0.1141

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (59/61)

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	G	12: 113,509,886 (GRCm39)	D753G	possibly damaging	Het
Arpc2	T	A	1: 74,295,108 (GRCm39)		probably null	Het
Atxn2	C	T	5: 121,951,512 (GRCm39)	T619M	probably damaging	Het
Cacna1s	T	C	1: 136,035,860 (GRCm39)	Y1120H	probably damaging	Het
Calm5	T	C	13: 3,904,435 (GRCm39)	L20S	probably damaging	Het
Carmil1	T	C	13: 24,460,520 (GRCm39)	I20V	probably benign	Het
Cd177	T	C	7: 24,451,693 (GRCm39)	E441G	probably damaging	Het
Cd63	T	A	10: 128,746,299 (GRCm39)	C9S	probably damaging	Het
Cep250	A	C	2: 155,811,294 (GRCm39)	D380A	possibly damaging	Het
Col5a3	G	T	9: 20,712,368 (GRCm39)	P509Q	unknown	Het
Cyp11b2	A	G	15: 74,725,327 (GRCm39)	V264A	probably benign	Het
Dennd6a	T	A	14: 26,340,528 (GRCm39)	L214*	probably null	Het
Dna2	A	G	10: 62,785,021 (GRCm39)	N46S	possibly damaging	Het
Elovl1	G	A	4: 118,288,094 (GRCm39)	V77I	probably benign	Het
Eml1	A	T	12: 108,472,813 (GRCm39)	Y207F	probably damaging	Het
Epha6	C	T	16: 59,639,357 (GRCm39)	R839Q	possibly damaging	Het
Erlec1	A	T	11: 30,893,848 (GRCm39)	S105T	probably benign	Het
Esp3	T	A	17: 40,944,468 (GRCm39)	S37T	possibly damaging	Het
Foxh1	G	A	15: 76,554,049 (GRCm39)	A8V	probably benign	Het
Fut1	A	C	7: 45,268,886 (GRCm39)	D280A	probably damaging	Het
Gm13998	G	T	2: 119,708,892 (GRCm39)		noncoding transcript	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
H2az1	T	C	3: 137,571,380 (GRCm39)	Y61H	probably damaging	Het
Kdm4c	T	G	4: 74,277,668 (GRCm39)	V774G	probably damaging	Het
Mrc2	G	A	11: 105,228,639 (GRCm39)	V673I	probably benign	Het
Mtnr1b	G	A	9: 15,774,168 (GRCm39)	A297V	possibly damaging	Het
Or5d43	A	T	2: 88,105,045 (GRCm39)	M116K	probably damaging	Het
Or8b40	A	T	9: 38,027,423 (GRCm39)	E110D	probably damaging	Het
Osbpl5	A	T	7: 143,258,266 (GRCm39)	V346D	probably benign	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Pigo	T	C	4: 43,023,475 (GRCm39)	D233G	probably damaging	Het
Pmm1	A	T	15: 81,836,156 (GRCm39)	I152N	probably benign	Het
Pot1a	A	T	6: 25,757,297 (GRCm39)		probably null	Het
Ppp1r12b	G	T	1: 134,803,780 (GRCm39)	L460I	probably benign	Het
Prrc2a	T	C	17: 35,377,463 (GRCm39)	D565G	unknown	Het
Psd	C	A	19: 46,303,211 (GRCm39)	E724*	probably null	Het
Rasa2	C	T	9: 96,459,521 (GRCm39)		probably null	Het
Rsbn1	A	T	3: 103,869,888 (GRCm39)	Q783L	possibly damaging	Het
Ryr2	T	C	13: 11,784,848 (GRCm39)	Y1035C	probably damaging	Het
Sec24d	C	T	3: 123,084,109 (GRCm39)	A96V	probably benign	Het
Sec61a2	A	T	2: 5,887,585 (GRCm39)		probably null	Het
Sec62	A	G	3: 30,847,436 (GRCm39)		probably benign	Het
Tcstv2a	T	A	13: 120,725,475 (GRCm39)	C46*	probably null	Het
Tmem132b	T	A	5: 125,715,394 (GRCm39)		probably null	Het
Tnip3	A	G	6: 65,591,741 (GRCm39)	S247G	probably benign	Het
Traf3	A	G	12: 111,219,162 (GRCm39)	K263R	possibly damaging	Het
Tubgcp3	A	T	8: 12,675,056 (GRCm39)	I713N	probably damaging	Het
Unc5c	A	G	3: 141,534,281 (GRCm39)	E860G	probably damaging	Het
Usp44	A	G	10: 93,681,840 (GRCm39)	S97G	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vps37a	A	G	8: 40,982,160 (GRCm39)	H109R	probably damaging	Het
Wfikkn2	G	T	11: 94,129,114 (GRCm39)	D342E	probably benign	Het
Zfp354b	A	T	11: 50,813,647 (GRCm39)	F426Y	probably benign	Het
Zfp462	C	A	4: 55,010,590 (GRCm39)	T852N	probably damaging	Het
Zfp987	T	G	4: 146,061,505 (GRCm39)	S312R	probably benign	Het

Other mutations in Kcns1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0013:Kcns1	UTSW	2	164,010,563 (GRCm39)	missense	probably benign	0.00
R0135:Kcns1	UTSW	2	164,006,875 (GRCm39)	missense	possibly damaging	0.90
R0241:Kcns1	UTSW	2	164,010,300 (GRCm39)	missense	probably damaging	1.00
R1966:Kcns1	UTSW	2	164,010,455 (GRCm39)	missense	probably damaging	1.00
R2877:Kcns1	UTSW	2	164,006,682 (GRCm39)	missense	probably damaging	1.00
R2878:Kcns1	UTSW	2	164,006,682 (GRCm39)	missense	probably damaging	1.00
R3157:Kcns1	UTSW	2	164,006,865 (GRCm39)	missense	probably damaging	1.00
R4013:Kcns1	UTSW	2	164,010,177 (GRCm39)	missense	probably damaging	1.00
R4451:Kcns1	UTSW	2	164,010,598 (GRCm39)	missense	possibly damaging	0.46
R4873:Kcns1	UTSW	2	164,010,021 (GRCm39)	missense	probably damaging	1.00
R4875:Kcns1	UTSW	2	164,010,021 (GRCm39)	missense	probably damaging	1.00
R5270:Kcns1	UTSW	2	164,010,249 (GRCm39)	missense	probably benign	0.37
R5493:Kcns1	UTSW	2	164,009,899 (GRCm39)	missense	probably benign	0.02
R6931:Kcns1	UTSW	2	164,006,758 (GRCm39)	missense	probably damaging	0.99
R7689:Kcns1	UTSW	2	164,010,241 (GRCm39)	missense	probably damaging	1.00
R8304:Kcns1	UTSW	2	164,010,022 (GRCm39)	missense	probably damaging	1.00
R9044:Kcns1	UTSW	2	164,009,996 (GRCm39)	missense	probably damaging	1.00
R9195:Kcns1	UTSW	2	164,009,778 (GRCm39)	missense	probably damaging	1.00
R9414:Kcns1	UTSW	2	164,010,378 (GRCm39)	missense	probably damaging	1.00
Z1176:Kcns1	UTSW	2	164,010,553 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGAGATTTTGCAGGCTCCCG -3'
(R):5'- GCATCTTACTGCTGTACCTGG -3'

Sequencing Primer
(F):5'- AGCTTGGGTCTCCAGGTC -3'
(R):5'- TACTGCTGTACCTGGCCGTG -3'

Posted On

2016-12-15