Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03046:Kcna1'

391856

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

Accession Numbers

Essential gene?

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

Stock #

IGL03046 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

126617360-126623347 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126619148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 391 (L391M)

Ref Sequence

ENSEMBL: ENSMUSP00000144947 (fasta)

Gene Model

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

AlphaFold

P16388

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055168
AA Change: L391M

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055225
Gene: ENSMUSG00000047976
AA Change: L391M

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

possibly damaging
Transcript: ENSMUST00000203094
AA Change: L391M

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144947
Gene: ENSMUSG00000047976
AA Change: L391M

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

0.0963

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (54/55)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,636,282 (GRCm39)	M717K	probably benign	Het
Acad12	C	A	5: 121,748,029 (GRCm39)	V130L	probably benign	Het
Cdca2	T	C	14: 67,937,471 (GRCm39)		probably benign	Het
Cfap100	T	A	6: 90,389,332 (GRCm39)		probably null	Het
Cfap43	T	A	19: 47,804,302 (GRCm39)	E298V	probably damaging	Het
Cic	C	T	7: 24,990,500 (GRCm39)	P1971S	probably damaging	Het
Cnga1	T	C	5: 72,761,681 (GRCm39)	D611G	probably benign	Het
Daglb	C	T	5: 143,486,948 (GRCm39)	P522L	probably damaging	Het
Dclre1b	A	T	3: 103,710,597 (GRCm39)	I438K	probably benign	Het
Ddx5	C	A	11: 106,675,871 (GRCm39)	R273M	probably damaging	Het
Eepd1	C	T	9: 25,393,981 (GRCm39)	L82F	probably damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Exoc6	T	C	19: 37,582,217 (GRCm39)		probably null	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Foxs1	T	C	2: 152,774,484 (GRCm39)	T190A	probably benign	Het
Gje1	A	G	10: 14,592,374 (GRCm39)	L136P	probably damaging	Het
Hdac11	A	G	6: 91,145,827 (GRCm39)	T176A	probably benign	Het
Hhip	C	A	8: 80,698,967 (GRCm39)	V700L	probably damaging	Het
Hps5	T	C	7: 46,426,463 (GRCm39)		probably benign	Het
Itgb1bp1	T	C	12: 21,329,436 (GRCm39)	S13G	unknown	Het
Kif1a	C	T	1: 93,010,128 (GRCm39)	V6M	probably damaging	Het
Klhl6	T	C	16: 19,801,639 (GRCm39)	I39V	probably benign	Het
Lpcat4	C	A	2: 112,072,334 (GRCm39)		silent	Het
Ltn1	A	T	16: 87,202,509 (GRCm39)	S1047R	probably benign	Het
Mdn1	A	G	4: 32,694,495 (GRCm39)	T1073A	possibly damaging	Het
Megf10	G	T	18: 57,421,055 (GRCm39)	A898S	possibly damaging	Het
Mtmr6	T	C	14: 60,529,577 (GRCm39)		probably null	Het
Mtnr1b	T	C	9: 15,774,059 (GRCm39)	I333M	probably benign	Het
Muc5ac	G	T	7: 141,348,950 (GRCm39)	C463F	probably benign	Het
Mycbpap	G	T	11: 94,396,543 (GRCm39)	T99N	possibly damaging	Het
Myo7a	C	T	7: 97,728,534 (GRCm39)	C824Y	probably damaging	Het
N4bp2	A	G	5: 65,948,303 (GRCm39)	H311R	probably damaging	Het
Nepro	T	A	16: 44,552,509 (GRCm39)		probably benign	Het
Nop56	A	T	2: 130,117,489 (GRCm39)		probably benign	Het
Nup210	A	G	6: 90,995,978 (GRCm39)		probably benign	Het
Or4d10c	A	G	19: 12,065,391 (GRCm39)	V255A	probably damaging	Het
Or7g25	T	A	9: 19,160,441 (GRCm39)	I85F	probably damaging	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Pgap6	A	T	17: 26,338,414 (GRCm39)		probably null	Het
Pkhd1	T	G	1: 20,607,589 (GRCm39)	D1089A	possibly damaging	Het
Plb1	A	G	5: 32,485,756 (GRCm39)	R847G	probably damaging	Het
Pou6f2	A	G	13: 18,303,612 (GRCm39)		probably benign	Het
Prss43	C	G	9: 110,660,049 (GRCm39)	S371C	probably benign	Het
Ralgapa1	A	T	12: 55,741,942 (GRCm39)	V1322D	probably damaging	Het
Rrp8	A	G	7: 105,384,109 (GRCm39)	V131A	probably benign	Het
Rtp1	A	T	16: 23,248,044 (GRCm39)	K39M	probably benign	Het
Sanbr	A	T	11: 23,565,150 (GRCm39)	L279Q	possibly damaging	Het
Slc1a6	A	G	10: 78,636,008 (GRCm39)	I358V	probably benign	Het
Slc25a15	T	C	8: 22,885,726 (GRCm39)		probably benign	Het
Slc43a1	G	A	2: 84,684,897 (GRCm39)		probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Spock3	T	G	8: 63,802,018 (GRCm39)		probably null	Het
Tbc1d7	T	C	13: 43,308,162 (GRCm39)		probably null	Het
Tmem184c	C	T	8: 78,326,286 (GRCm39)	W260*	probably null	Het
Trnau1ap	A	G	4: 132,039,252 (GRCm39)	Y265H	probably damaging	Het
Usp25	T	C	16: 76,871,754 (GRCm39)	F363S	probably damaging	Het
Vcl	T	C	14: 21,072,085 (GRCm39)	F817L	possibly damaging	Het
Vmn1r13	T	A	6: 57,187,717 (GRCm39)	M292K	probably benign	Het
Xpc	G	T	6: 91,487,463 (GRCm39)	A89E	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
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

Predicted Primers

PCR Primer
(F):5'- TTGCTGATAGTAGAGGAGCTGC -3'
(R):5'- ACCCTCAAAGCTAGTATGAGGGAG -3'

Sequencing Primer
(F):5'- TAGAGGAGCTGCGGCGG -3'
(R):5'- AGGGAGTTAGGGCTGCTCATC -3'

Posted On

2016-06-07