Mutagenetix > Incidental Mutation

Incidental Mutation 'R5114:Kcna1'

394081

Institutional Source

Beutler Lab

Gene Symbol

Kcna1

Ensembl Gene

ENSMUSG00000047976

Gene Name

potassium voltage-gated channel, shaker-related subfamily, member 1

Synonyms

Shak, mouse brain potassium channel protein-1, mceph, Mk-1, MBK1, Kv1.1

MMRRC Submission

042702-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.356) question?

Stock #

R5114 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126617360-126623347 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126619330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 330 (I330T)

Ref Sequence

ENSEMBL: ENSMUSP00000144947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055168] [ENSMUST00000203094]

AlphaFold

P16388

Predicted Effect

probably damaging
Transcript: ENSMUST00000055168
AA Change: I330T

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

SMART Domains

Protein: ENSMUSP00000055225
Gene: ENSMUSG00000047976
AA Change: I330T

Domain	Start	End	E-Value	Type
BTB	37	137	2.44e-10	SMART
Pfam:Ion_trans	166	419	1.4e-52	PFAM
Pfam:Ion_trans_2	327	412	1.3e-15	PFAM
low complexity region	437	452	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000203094
AA Change: I330T

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

SMART Domains

Protein: ENSMUSP00000144947
Gene: ENSMUSG00000047976
AA Change: I330T

Domain	Start	End	E-Value	Type
BTB	37	137	2.44e-10	SMART
Pfam:Ion_trans	166	419	1.4e-52	PFAM
Pfam:Ion_trans_2	327	412	1.3e-15	PFAM
low complexity region	437	452	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205171

Meta Mutation Damage Score

0.8262

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008]
PHENOTYPE: Various mutations at this allele have diverse affects including behavioral abnormalities, megencephaly, and in one case, embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	A	9: 120,406,693 (GRCm39)		probably benign	Het
Ada	G	A	2: 163,572,406 (GRCm39)	R225C	probably benign	Het
Adamts9	T	C	6: 92,867,254 (GRCm39)	K625R	probably benign	Het
Ano1	T	C	7: 144,210,820 (GRCm39)	I182V	possibly damaging	Het
Aoc1l2	A	T	6: 48,908,292 (GRCm39)	M431L	probably benign	Het
Aox4	T	C	1: 58,285,445 (GRCm39)	V643A	possibly damaging	Het
Arcn1	T	C	9: 44,671,441 (GRCm39)	I29V	probably benign	Het
Arhgap15	A	G	2: 43,670,630 (GRCm39)	T5A	probably benign	Het
Asb10	A	T	5: 24,745,740 (GRCm39)	L62Q	probably damaging	Het
Atp23	T	A	10: 126,723,403 (GRCm39)	H233L	possibly damaging	Het
Bglap2	C	T	3: 88,289,432 (GRCm39)		probably benign	Het
Carnmt1	T	C	19: 18,655,098 (GRCm39)	S84P	probably damaging	Het
Ccdc152	A	G	15: 3,312,319 (GRCm39)	I180T	probably damaging	Het
Cdr2l	T	C	11: 115,284,186 (GRCm39)	F174S	probably damaging	Het
Celsr2	C	T	3: 108,301,312 (GRCm39)	V2695I	probably benign	Het
Chd1	C	A	17: 15,948,460 (GRCm39)	S127R	probably benign	Het
Chmp4c	T	A	3: 10,450,646 (GRCm39)	F75L	probably benign	Het
Col13a1	A	C	10: 61,725,880 (GRCm39)	V260G	possibly damaging	Het
Col5a1	A	G	2: 27,915,664 (GRCm39)	N183D	probably damaging	Het
Cpn1	C	T	19: 43,974,634 (GRCm39)	V32M	probably damaging	Het
Cxcl1	A	G	5: 91,039,373 (GRCm39)	M39V	probably benign	Het
Dpep2	T	A	8: 106,712,825 (GRCm39)	D455V	probably damaging	Het
Dpp7	G	A	2: 25,242,749 (GRCm39)	T441I	possibly damaging	Het
Dst	C	A	1: 34,241,640 (GRCm39)	H4001N	probably damaging	Het
Epg5	G	A	18: 78,038,828 (GRCm39)	A1519T	probably benign	Het
Esrp2	C	T	8: 106,858,820 (GRCm39)	V606I	probably benign	Het
Fbxo40	T	C	16: 36,789,236 (GRCm39)	K625E	probably damaging	Het
Gbp2b	A	T	3: 142,303,946 (GRCm39)	I14F	probably damaging	Het
Gpr37l1	G	T	1: 135,094,676 (GRCm39)	F189L	probably damaging	Het
Heatr5a	G	A	12: 52,003,020 (GRCm39)	Q161*	probably null	Het
Hspa4l	T	C	3: 40,700,197 (GRCm39)	Y30H	possibly damaging	Het
Hspg2	G	A	4: 137,239,237 (GRCm39)	C388Y	probably damaging	Het
Klhl3	T	A	13: 58,166,781 (GRCm39)	Y350F	probably benign	Het
Kntc1	T	C	5: 123,919,118 (GRCm39)		probably null	Het
Krtap10-4	A	T	10: 77,662,520 (GRCm39)	C109*	probably null	Het
Lrch4	T	C	5: 137,636,179 (GRCm39)	S377P	probably benign	Het
Lrrc8c	C	A	5: 105,755,349 (GRCm39)	H375N	probably damaging	Het
Lsg1	T	C	16: 30,380,538 (GRCm39)	E633G	probably damaging	Het
Mcoln1	T	C	8: 3,560,697 (GRCm39)		probably benign	Het
Med12l	C	A	3: 59,167,109 (GRCm39)	T1523K	possibly damaging	Het
Mrps27	A	T	13: 99,547,973 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,780,717 (GRCm39)	Y158F	probably benign	Het
Nat8l	T	A	5: 34,155,823 (GRCm39)	C160S	probably damaging	Het
Ncf4	T	C	15: 78,146,593 (GRCm39)		probably benign	Het
Or1b1	A	T	2: 36,994,814 (GRCm39)	Y283N	probably damaging	Het
Or1o3	T	C	17: 37,573,730 (GRCm39)	Y275C	probably damaging	Het
Pak2	T	A	16: 31,861,936 (GRCm39)		probably benign	Het
Pcdhga12	T	C	18: 37,901,160 (GRCm39)	I664T	probably benign	Het
Pcnx2	A	C	8: 126,564,749 (GRCm39)	L1048R	possibly damaging	Het
Pcsk5	T	C	19: 17,652,949 (GRCm39)	M246V	probably damaging	Het
Pkd2l2	T	A	18: 34,566,355 (GRCm39)	V522D	probably benign	Het
Plekhh1	A	T	12: 79,115,880 (GRCm39)	M808L	probably benign	Het
Plpp2	C	A	10: 79,362,973 (GRCm39)	R157L	probably benign	Het
Plrg1	T	A	3: 82,978,558 (GRCm39)	H441Q	probably benign	Het
Pnpla6	T	C	8: 3,572,613 (GRCm39)	V300A	probably damaging	Het
Ptprb	A	T	10: 116,184,088 (GRCm39)	K1633N	possibly damaging	Het
Ralgapa1	A	G	12: 55,659,508 (GRCm39)	V2004A	possibly damaging	Het
Rasd1	G	T	11: 59,854,933 (GRCm39)	S182R	possibly damaging	Het
Rc3h2	A	T	2: 37,288,373 (GRCm39)		probably null	Het
Rrp1b	T	A	17: 32,255,445 (GRCm39)		probably benign	Het
Ruvbl1	T	C	6: 88,474,272 (GRCm39)	I425T	probably benign	Het
Shisal1	T	C	15: 84,301,427 (GRCm39)	D72G	probably damaging	Het
Sipa1l1	C	T	12: 82,487,682 (GRCm39)	A1652V	probably benign	Het
Slc12a2	A	G	18: 58,032,344 (GRCm39)	Y348C	probably damaging	Het
Slc14a2	C	A	18: 78,238,963 (GRCm39)	V219L	possibly damaging	Het
Smc1b	G	T	15: 84,949,185 (GRCm39)	P1242Q	probably damaging	Het
Smim33	A	G	18: 35,861,894 (GRCm39)	Y126C	probably damaging	Het
Snx27	T	A	3: 94,431,551 (GRCm39)	D281V	probably damaging	Het
Spem2	C	T	11: 69,707,973 (GRCm39)	V331I	probably benign	Het
Sptb	C	A	12: 76,656,052 (GRCm39)	K1343N	probably damaging	Het
Sult2a8	T	C	7: 14,147,584 (GRCm39)	I236V	probably benign	Het
Syk	A	G	13: 52,765,071 (GRCm39)	E66G	probably damaging	Het
Synm	T	A	7: 67,385,406 (GRCm39)	E310V	probably damaging	Het
Tas2r118	G	A	6: 23,969,209 (GRCm39)	A284V	probably benign	Het
Thoc2l	T	A	5: 104,667,742 (GRCm39)	F755I	probably damaging	Het
Tlr11	A	G	14: 50,600,578 (GRCm39)	N855D	possibly damaging	Het
Tmem230	G	T	2: 132,087,871 (GRCm39)		probably benign	Het
Trappc8	G	A	18: 20,977,237 (GRCm39)	T844I	probably benign	Het
Trmt44	T	C	5: 35,722,812 (GRCm39)	S419G	possibly damaging	Het
Trpv1	T	A	11: 73,132,574 (GRCm39)	V396E	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubgcp2	A	G	7: 139,587,354 (GRCm39)	I337T	possibly damaging	Het
Ubr4	T	C	4: 139,137,934 (GRCm39)	I1097T	probably damaging	Het
Vmn2r61	T	C	7: 41,949,953 (GRCm39)	F791S	possibly damaging	Het
Zdhhc2	T	A	8: 40,898,825 (GRCm39)	M45K	probably benign	Het
Zfp383	T	A	7: 29,614,166 (GRCm39)	D140E	probably damaging	Het
Zfp712	C	A	13: 67,189,425 (GRCm39)	K367N	probably damaging	Het
Zfp763	C	T	17: 33,237,949 (GRCm39)	A399T	probably damaging	Het

Other mutations in Kcna1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02354:Kcna1	APN	6	126,619,869 (GRCm39)	missense	probably damaging	1.00
IGL02361:Kcna1	APN	6	126,619,869 (GRCm39)	missense	probably damaging	1.00
IGL02900:Kcna1	APN	6	126,620,057 (GRCm39)	missense	probably damaging	1.00
IGL03046:Kcna1	UTSW	6	126,619,148 (GRCm39)	missense	possibly damaging	0.84
R0694:Kcna1	UTSW	6	126,619,208 (GRCm39)	missense	probably damaging	0.99
R1530:Kcna1	UTSW	6	126,619,494 (GRCm39)	missense	probably benign
R1531:Kcna1	UTSW	6	126,619,030 (GRCm39)	missense	probably benign	0.30
R1676:Kcna1	UTSW	6	126,619,645 (GRCm39)	missense	probably damaging	1.00
R1750:Kcna1	UTSW	6	126,619,771 (GRCm39)	missense	probably benign	0.06
R3815:Kcna1	UTSW	6	126,620,009 (GRCm39)	missense	probably damaging	1.00
R4012:Kcna1	UTSW	6	126,619,873 (GRCm39)	missense	probably benign
R4290:Kcna1	UTSW	6	126,618,838 (GRCm39)	missense	probably damaging	1.00
R4492:Kcna1	UTSW	6	126,619,238 (GRCm39)	missense	possibly damaging	0.95
R4820:Kcna1	UTSW	6	126,619,099 (GRCm39)	missense	probably damaging	1.00
R5433:Kcna1	UTSW	6	126,620,075 (GRCm39)	missense	probably damaging	1.00
R6171:Kcna1	UTSW	6	126,619,286 (GRCm39)	missense	probably damaging	1.00
R7561:Kcna1	UTSW	6	126,619,108 (GRCm39)	missense	probably damaging	1.00
R7834:Kcna1	UTSW	6	126,619,703 (GRCm39)	missense	probably benign
R8040:Kcna1	UTSW	6	126,619,703 (GRCm39)	missense	probably benign
R8167:Kcna1	UTSW	6	126,620,443 (GRCm39)	start gained	probably benign
R8311:Kcna1	UTSW	6	126,619,255 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCTCCAATTGTCACAGGG -3'
(R):5'- ATCATGAACTTCATCGACATTGTGG -3'

Sequencing Primer
(F):5'- TGTCACAGGGTACATGTCAC -3'
(R):5'- ATTTCATTACCCTGGGCACGGAG -3'

Posted On

2016-06-15