Mutagenetix > Incidental Mutation

Incidental Mutation 'R6931:Kcns1'

539996

Institutional Source

Beutler Lab

Gene Symbol

Kcns1

Ensembl Gene

ENSMUSG00000040164

Gene Name

K+ voltage-gated channel, subfamily S, 1

Synonyms

Kv9.1

MMRRC Submission

045326-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R6931 (G1)

Quality Score

212.009

Status

Validated

Chromosome

Chromosomal Location

164005539-164013033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164006758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 402 (T402A)

Ref Sequence

ENSEMBL: ENSMUSP00000038901 (fasta)

Gene Model

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

AlphaFold

O35173

Predicted Effect

probably damaging
Transcript: ENSMUST00000045196
AA Change: T402A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038901
Gene: ENSMUSG00000040164
AA Change: T402A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,118,561 (GRCm39)	I15N	probably damaging	Het
2900092C05Rik	T	A	7: 12,246,523 (GRCm39)	S6R	unknown	Het
Abca6	T	A	11: 110,135,154 (GRCm39)	L210F	probably benign	Het
Abcc4	T	C	14: 118,765,400 (GRCm39)	Q919R	probably damaging	Het
Adcy1	A	G	11: 7,100,884 (GRCm39)	D811G	possibly damaging	Het
Akna	A	G	4: 63,305,339 (GRCm39)	S476P	probably benign	Het
Ankrd49	T	C	9: 14,694,122 (GRCm39)	N15S	probably benign	Het
Apcdd1	A	G	18: 63,066,979 (GRCm39)	D31G	probably damaging	Het
Aplp1	G	T	7: 30,142,625 (GRCm39)	R106S	probably damaging	Het
Arhgap40	T	C	2: 158,373,138 (GRCm39)	L132S	probably benign	Het
Atp8b5	G	T	4: 43,364,108 (GRCm39)		probably null	Het
Axl	T	C	7: 25,460,858 (GRCm39)	D717G	probably damaging	Het
Bub1	T	A	2: 127,643,302 (GRCm39)	D1014V	probably damaging	Het
Cacna2d4	T	A	6: 119,259,195 (GRCm39)	V603E	possibly damaging	Het
Cnot11	G	C	1: 39,579,002 (GRCm39)	C289S	probably damaging	Het
Coasy	A	G	11: 100,974,407 (GRCm39)	H191R	probably benign	Het
Cyp11a1	A	T	9: 57,932,403 (GRCm39)	N341Y	possibly damaging	Het
Cyp1a2	T	C	9: 57,589,439 (GRCm39)	N125S	probably benign	Het
Cyp2j8	A	T	4: 96,333,018 (GRCm39)		probably null	Het
Dnah9	A	T	11: 66,008,452 (GRCm39)	I791K	possibly damaging	Het
Ecm2	A	T	13: 49,682,487 (GRCm39)	Q505H	probably benign	Het
Fam135a	T	A	1: 24,124,568 (GRCm39)	M1L	probably damaging	Het
Fam171a2	A	G	11: 102,329,260 (GRCm39)	S500P	possibly damaging	Het
Fat3	A	G	9: 15,871,238 (GRCm39)	S3718P	possibly damaging	Het
Frem1	G	A	4: 82,888,914 (GRCm39)	P1085S	probably damaging	Het
Gcfc2	A	G	6: 81,919,966 (GRCm39)	I390V	probably benign	Het
Gemin4	A	G	11: 76,101,782 (GRCm39)	L993P	probably damaging	Het
Ggnbp2	T	A	11: 84,723,993 (GRCm39)	D647V	probably damaging	Het
Gpr84	A	C	15: 103,217,441 (GRCm39)	L212R	probably damaging	Het
Hnrnpu	T	C	1: 178,158,997 (GRCm39)		probably benign	Het
Hspg2	G	T	4: 137,268,031 (GRCm39)	C2116F	probably damaging	Het
Icam4	T	A	9: 20,941,747 (GRCm39)	V249E	probably damaging	Het
Itga1	T	C	13: 115,138,099 (GRCm39)	N429D	probably benign	Het
Ky	T	A	9: 102,414,826 (GRCm39)	V246E	probably damaging	Het
Marchf1	A	G	8: 66,921,144 (GRCm39)	T529A	probably benign	Het
Med18	C	G	4: 132,187,194 (GRCm39)	V102L	probably damaging	Het
Mlst8	T	C	17: 24,696,249 (GRCm39)	D160G	probably damaging	Het
Mthfd1	T	C	12: 76,350,472 (GRCm39)	I470T	probably benign	Het
Muc1	C	T	3: 89,136,466 (GRCm39)		probably benign	Het
Mup8	G	A	4: 60,220,322 (GRCm39)	L137F	probably damaging	Het
Mybpc1	A	T	10: 88,378,192 (GRCm39)	L341*	probably null	Het
Nacad	A	G	11: 6,551,877 (GRCm39)	F438S	probably benign	Het
Necap2	C	A	4: 140,805,523 (GRCm39)		probably null	Het
Nifk	T	C	1: 118,260,078 (GRCm39)	L163S	possibly damaging	Het
Npsr1	A	G	9: 24,201,293 (GRCm39)	I73V	probably benign	Het
Nup50l	T	C	6: 96,142,529 (GRCm39)	T172A	possibly damaging	Het
Oog3	C	T	4: 143,885,923 (GRCm39)	C225Y	probably benign	Het
Or2d2	A	G	7: 106,728,108 (GRCm39)	L164P	probably damaging	Het
Or4b13	A	T	2: 90,083,121 (GRCm39)	C70*	probably null	Het
Or4c100	T	A	2: 88,356,538 (GRCm39)	C204S	possibly damaging	Het
Or4p18	G	A	2: 88,232,408 (GRCm39)	T290I	probably benign	Het
Plagl2	C	A	2: 153,077,863 (GRCm39)	K39N	probably benign	Het
Plcg2	T	A	8: 118,284,058 (GRCm39)	D118E	probably benign	Het
Ppp4r3b	A	T	11: 29,161,786 (GRCm39)	K720I	possibly damaging	Het
Prmt3	A	T	7: 49,478,764 (GRCm39)	T442S	probably benign	Het
Prr14l	G	A	5: 32,988,035 (GRCm39)	H487Y	probably damaging	Het
Psmb3	G	A	11: 97,594,797 (GRCm39)	V63I	probably benign	Het
Psmc6	T	A	14: 45,581,182 (GRCm39)	I326K	possibly damaging	Het
Ptcd1	T	C	5: 145,091,885 (GRCm39)	T405A	probably benign	Het
Rbm33	G	A	5: 28,615,743 (GRCm39)	V29M	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Scarb1	T	A	5: 125,361,783 (GRCm39)	I107F	probably damaging	Het
Slc39a12	A	G	2: 14,394,186 (GRCm39)	S19G	probably benign	Het
Slc44a5	T	C	3: 153,964,143 (GRCm39)	V503A	probably benign	Het
Slc9a9	T	C	9: 94,552,139 (GRCm39)	S9P	possibly damaging	Het
Snrnp35	A	C	5: 124,628,764 (GRCm39)	R192S	possibly damaging	Het
Tbx15	T	C	3: 99,259,467 (GRCm39)	L446P	probably damaging	Het
Tlnrd1	A	G	7: 83,531,805 (GRCm39)	F209L	probably benign	Het
Tmprss12	C	T	15: 100,183,149 (GRCm39)	R164C	probably damaging	Het
Tnfsf4	T	A	1: 161,244,644 (GRCm39)	F111Y	possibly damaging	Het
Trib2	A	T	12: 15,843,640 (GRCm39)	M198K	probably benign	Het
Ttll8	A	G	15: 88,798,507 (GRCm39)	S743P	possibly damaging	Het
Ush2a	A	T	1: 188,460,580 (GRCm39)	N2614Y	probably benign	Het
Usp6nl	G	A	2: 6,435,269 (GRCm39)	V343I	possibly damaging	Het
Vrtn	C	A	12: 84,697,016 (GRCm39)	Q589K	probably benign	Het
Zbed5	T	A	5: 129,932,170 (GRCm39)	Y706*	probably null	Het
Zc3h10	A	G	10: 128,380,553 (GRCm39)	V268A	probably damaging	Het
Zfp442	C	T	2: 150,252,860 (GRCm39)		probably null	Het
Zpld2	A	T	4: 133,920,464 (GRCm39)	M567K	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
R5775:Kcns1	UTSW	2	164,006,686 (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'- AAGTGTCCCGGGATGTTTC -3'
(R):5'- CTTTCAGCACAGCTACCGTGAG -3'

Sequencing Primer
(F):5'- GGGATGTTTCCAGAGACACATCC -3'
(R):5'- AGGTGGGCATCTTACTGCTGTAC -3'

Posted On

2018-11-06