Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02900:Kcna1'

363539

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.365) question?

Stock #

IGL02900

Quality Score

Status

Chromosome

Chromosomal Location

126617360-126623347 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 126620057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 88 (S88R)

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: S88R

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

SMART Domains

Protein: ENSMUSP00000055225
Gene: ENSMUSG00000047976
AA Change: S88R

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: S88R

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

SMART Domains

Protein: ENSMUSP00000144947
Gene: ENSMUSG00000047976
AA Change: S88R

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

Coding Region Coverage

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,728,774 (GRCm39)	T23N	possibly damaging	Het
Angpt4	T	A	2: 151,753,391 (GRCm39)	V47E	probably damaging	Het
Arhgef11	G	A	3: 87,640,467 (GRCm39)	R1208Q	probably benign	Het
Calb1	T	C	4: 15,895,695 (GRCm39)		probably benign	Het
Capn11	G	T	17: 45,941,540 (GRCm39)		probably null	Het
Carmil2	T	A	8: 106,422,151 (GRCm39)	I1140N	probably damaging	Het
Cnn3	A	T	3: 121,245,143 (GRCm39)	T23S	probably benign	Het
Colgalt2	C	T	1: 152,384,481 (GRCm39)	T607M	probably damaging	Het
Cyp46a1	T	G	12: 108,309,350 (GRCm39)	V93G	probably damaging	Het
Dcaf6	T	C	1: 165,227,344 (GRCm39)	Y261C	probably damaging	Het
Dnah10	A	G	5: 124,878,886 (GRCm39)	Y2715C	probably damaging	Het
Dsg1a	G	T	18: 20,461,713 (GRCm39)		probably benign	Het
Eml4	C	T	17: 83,785,421 (GRCm39)	P862L	probably benign	Het
Gm5414	T	C	15: 101,536,242 (GRCm39)	T128A	probably damaging	Het
Gp9	G	T	6: 87,756,415 (GRCm39)	W143C	probably damaging	Het
Hipk2	T	C	6: 38,706,879 (GRCm39)	I670V	probably damaging	Het
Hoxa10	T	C	6: 52,209,541 (GRCm39)	K77R	possibly damaging	Het
Kif1b	A	T	4: 149,265,266 (GRCm39)	S1758T	possibly damaging	Het
Klk1b11	A	G	7: 43,427,837 (GRCm39)	T182A	probably damaging	Het
Lrp1	G	A	10: 127,412,516 (GRCm39)		probably benign	Het
Magi1	A	G	6: 93,663,854 (GRCm39)	S991P	probably damaging	Het
Mast4	T	A	13: 102,872,184 (GRCm39)	T2203S	probably benign	Het
Mxra8	A	G	4: 155,925,576 (GRCm39)	E95G	possibly damaging	Het
Mxra8	A	G	4: 155,925,668 (GRCm39)		probably null	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Or14j9	A	G	17: 37,874,740 (GRCm39)	I154T	possibly damaging	Het
Or2f2	T	A	6: 42,767,808 (GRCm39)	Y278*	probably null	Het
Or8g2b	T	A	9: 39,751,108 (GRCm39)	I126N	probably damaging	Het
Or8g4	A	T	9: 39,661,901 (GRCm39)	H73L	probably benign	Het
Pbx4	A	G	8: 70,319,216 (GRCm39)	E249G	probably damaging	Het
Pkd1l2	T	C	8: 117,750,830 (GRCm39)	E1727G	probably benign	Het
Plec	T	G	15: 76,070,414 (GRCm39)	D932A	probably damaging	Het
Pramel22	A	T	4: 143,382,085 (GRCm39)	F204I	possibly damaging	Het
Raph1	T	C	1: 60,542,022 (GRCm39)	D364G	probably damaging	Het
Rps29	T	A	12: 69,205,825 (GRCm39)	H3L	probably damaging	Het
Sema4c	A	T	1: 36,589,826 (GRCm39)	C509*	probably null	Het
Srgap2	A	T	1: 131,339,534 (GRCm39)		probably benign	Het
Stam2	A	T	2: 52,598,209 (GRCm39)	D243E	probably benign	Het
Stxbp4	A	G	11: 90,497,861 (GRCm39)	L146P	probably benign	Het
Teddm3	G	T	16: 20,971,900 (GRCm39)	T223K	probably benign	Het
Tfap2d	A	T	1: 19,189,474 (GRCm39)	N285Y	probably damaging	Het
Tmprss3	T	A	17: 31,403,553 (GRCm39)	D416V	probably damaging	Het
Vmn1r71	T	A	7: 10,482,601 (GRCm39)	Y29F	probably benign	Het
Vmn2r84	T	C	10: 130,223,861 (GRCm39)		probably benign	Het
Washc2	G	T	6: 116,204,435 (GRCm39)	D362Y	probably damaging	Het
Wbp2nl	T	C	15: 82,198,035 (GRCm39)	S191P	probably benign	Het
Zfp608	T	C	18: 55,079,865 (GRCm39)	T307A	probably damaging	Het
Zfp970	T	C	2: 177,166,610 (GRCm39)		probably benign	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
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
R5114:Kcna1	UTSW	6	126,619,330 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-12-18