Mutagenetix > Incidental Mutation

Incidental Mutation 'R5433:Kcna1'

428151

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

042998-MU

Accession Numbers

Essential gene?

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

Stock #

R5433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126617360-126623347 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126620075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 82 (F82I)

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: F82I

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

SMART Domains

Protein: ENSMUSP00000055225
Gene: ENSMUSG00000047976
AA Change: F82I

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: F82I

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

SMART Domains

Protein: ENSMUSP00000144947
Gene: ENSMUSG00000047976
AA Change: F82I

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

0.9266

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

100% (58/58)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,657 (GRCm39)	S24G	probably damaging	Het
1810064F22Rik	A	G	9: 22,119,039 (GRCm39)		noncoding transcript	Het
Aacs	A	T	5: 125,592,078 (GRCm39)	M589L	probably benign	Het
Adamts8	A	C	9: 30,873,012 (GRCm39)	H739P	probably benign	Het
Atp8b2	T	C	3: 89,860,216 (GRCm39)		probably benign	Het
BC030500	A	G	8: 59,366,043 (GRCm39)		probably benign	Het
Btnl9	T	A	11: 49,066,830 (GRCm39)		probably benign	Het
Cd74	G	T	18: 60,940,993 (GRCm39)	A31S	probably benign	Het
Ceacam3	G	A	7: 16,893,808 (GRCm39)	A440T	possibly damaging	Het
Ces1d	G	A	8: 93,912,664 (GRCm39)	T258I	probably benign	Het
Col10a1	A	G	10: 34,266,735 (GRCm39)		probably benign	Het
Coro1b	C	T	19: 4,203,449 (GRCm39)	A430V	probably benign	Het
Cyp2c65	A	T	19: 39,081,928 (GRCm39)	I485L	probably benign	Het
Dio1	A	T	4: 107,163,977 (GRCm39)		probably benign	Het
Dmxl1	G	A	18: 50,000,966 (GRCm39)		probably null	Het
Dynlt5	A	G	4: 102,859,700 (GRCm39)	E84G	possibly damaging	Het
Elp6	A	G	9: 110,144,851 (GRCm39)	Y136C	probably damaging	Het
Gon4l	A	T	3: 88,803,532 (GRCm39)	Q1382L	possibly damaging	Het
Guca1a	T	C	17: 47,711,295 (GRCm39)	E17G	probably damaging	Het
Gucy2d	G	A	7: 98,098,982 (GRCm39)	G267E	probably damaging	Het
Gvin3	T	A	7: 106,199,314 (GRCm39)		noncoding transcript	Het
Hspg2	T	A	4: 137,256,105 (GRCm39)		probably null	Het
Il1a	G	T	2: 129,149,821 (GRCm39)	D26E	possibly damaging	Het
Il22b	T	A	10: 118,130,789 (GRCm39)	I36F	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lamtor5	T	G	3: 107,189,323 (GRCm39)	C120G	probably benign	Het
Lars1	A	G	18: 42,384,363 (GRCm39)	C72R	possibly damaging	Het
Lrrfip1	T	G	1: 91,014,848 (GRCm39)		probably null	Het
Mapkapk3	T	C	9: 107,133,491 (GRCm39)	D349G	probably damaging	Het
Mknk2	A	T	10: 80,503,059 (GRCm39)	I421N	probably benign	Het
Myh6	A	G	14: 55,191,381 (GRCm39)	I820T	probably benign	Het
Notch2	T	G	3: 98,033,450 (GRCm39)	V1182G	probably damaging	Het
Or1af1	T	G	2: 37,109,684 (GRCm39)	F61C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2z2	C	T	11: 58,346,680 (GRCm39)	V32M	probably damaging	Het
Ppfia4	A	T	1: 134,245,632 (GRCm39)	S641T	probably damaging	Het
Prok1	T	A	3: 107,146,949 (GRCm39)	H6L	probably benign	Het
Ptprm	A	T	17: 67,000,468 (GRCm39)	V1172E	probably damaging	Het
Rasal3	C	T	17: 32,612,575 (GRCm39)	R762Q	probably benign	Het
Rgs20	G	T	1: 5,140,333 (GRCm39)	A23E	possibly damaging	Het
Rprd1a	T	C	18: 24,640,288 (GRCm39)	T163A	probably benign	Het
Rrm1	A	T	7: 102,114,974 (GRCm39)	N37I	probably damaging	Het
Shc4	T	A	2: 125,481,350 (GRCm39)	E520V	probably damaging	Het
Slc14a2	G	T	18: 78,252,143 (GRCm39)	P56Q	probably damaging	Het
Slc22a3	C	T	17: 12,677,377 (GRCm39)	G264S	probably damaging	Het
Svil	A	G	18: 5,059,294 (GRCm39)	E770G	probably damaging	Het
Svop	A	G	5: 114,198,186 (GRCm39)	V129A	probably damaging	Het
Szt2	A	T	4: 118,232,663 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,951,105 (GRCm39)		probably benign	Het
Tmem30a	T	A	9: 79,687,930 (GRCm39)	I80F	probably damaging	Het
Vmn2r16	G	T	5: 109,511,708 (GRCm39)	L638F	probably damaging	Het
Xkr7	T	A	2: 152,896,244 (GRCm39)	I366N	probably damaging	Het
Zer1	A	G	2: 29,990,998 (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
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
R5114:Kcna1	UTSW	6	126,619,330 (GRCm39)	missense	probably damaging	0.99
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'- ATGAAGCCCTCATCTTCCCG -3'
(R):5'- CATCATGACGGTGATGTCGG -3'

Sequencing Primer
(F):5'- CCGGAACTTCTCCATGGC -3'
(R):5'- AATGCGGACGAGGCTTC -3'

Posted On

2016-09-01