Mutagenetix > Incidental Mutation

Incidental Mutation 'R1847:Kcnab1'

207785

Institutional Source

Beutler Lab

Gene Symbol

Kcnab1

Ensembl Gene

ENSMUSG00000027827

Gene Name

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

Synonyms

mKv(beta)1, Akr8a8, Kvbeta1.1

MMRRC Submission

039872-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R1847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64856636-65285643 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 65209615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049230]

AlphaFold

P63143

Predicted Effect

probably null
Transcript: ENSMUST00000049230

SMART Domains

Protein: ENSMUSP00000047480
Gene: ENSMUSG00000027827

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	85	390	1.8e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159525

SMART Domains

Protein: ENSMUSP00000124311
Gene: ENSMUSG00000027827

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	85	343	1.3e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161404

SMART Domains

Protein: ENSMUSP00000125578
Gene: ENSMUSG00000027827

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	1	284	4e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161979

SMART Domains

Protein: ENSMUSP00000125050
Gene: ENSMUSG00000027827

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	50	355	1.2e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195685

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene experience some learning defects but are otherwise normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	C	A	16: 14,263,313 (GRCm39)	R758S	probably benign	Het
Acnat1	A	T	4: 49,447,716 (GRCm39)	H288Q	possibly damaging	Het
Adamts1	T	C	16: 85,599,114 (GRCm39)	E162G	possibly damaging	Het
Akap11	A	G	14: 78,751,101 (GRCm39)	S429P	probably benign	Het
Alg14	T	C	3: 121,155,415 (GRCm39)	Y212H	probably damaging	Het
Cacna1g	T	C	11: 94,357,007 (GRCm39)	T97A	probably damaging	Het
Ccdc112	T	A	18: 46,420,821 (GRCm39)	N310Y	possibly damaging	Het
Cenpl	A	T	1: 160,913,574 (GRCm39)	Y328F	probably damaging	Het
Cep162	G	A	9: 87,086,133 (GRCm39)	H1064Y	probably benign	Het
Cnksr3	T	A	10: 7,104,324 (GRCm39)	E126D	probably benign	Het
Ctsh	T	A	9: 89,943,618 (GRCm39)	M81K	probably benign	Het
D6Wsu163e	A	G	6: 126,932,112 (GRCm39)	T284A	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnaaf1	T	A	8: 120,309,616 (GRCm39)	M196K	probably benign	Het
Dnah9	C	A	11: 65,725,212 (GRCm39)	G4314C	probably damaging	Het
Dph1	A	G	11: 75,070,557 (GRCm39)	Y361H	probably damaging	Het
Ect2	C	T	3: 27,204,221 (GRCm39)	M29I	probably benign	Het
Eif3h	T	C	15: 51,661,066 (GRCm39)	Y167C	probably damaging	Het
Epc2	C	T	2: 49,422,101 (GRCm39)	R332C	probably damaging	Het
Fras1	C	A	5: 96,897,282 (GRCm39)		probably null	Het
Gfm2	A	G	13: 97,299,442 (GRCm39)	I386V	probably benign	Het
Gpd1l	G	A	9: 114,743,399 (GRCm39)	T167I	probably damaging	Het
Hsph1	T	A	5: 149,546,950 (GRCm39)	K567*	probably null	Het
Igfn1	T	G	1: 135,897,126 (GRCm39)	S1147R	probably benign	Het
Itgb4	T	C	11: 115,874,590 (GRCm39)	V406A	probably benign	Het
Kcna2	A	G	3: 107,012,429 (GRCm39)	I337V	possibly damaging	Het
Kri1	G	T	9: 21,191,788 (GRCm39)		probably benign	Het
Lrguk	T	A	6: 34,110,322 (GRCm39)	I801K	possibly damaging	Het
Magi2	A	T	5: 20,807,458 (GRCm39)	N871Y	probably damaging	Het
Map3k10	G	T	7: 27,360,981 (GRCm39)		probably null	Het
Mrps25	T	C	6: 92,155,721 (GRCm39)	T71A	probably damaging	Het
Myo15a	G	A	11: 60,390,321 (GRCm39)	W945*	probably null	Het
Ncan	A	T	8: 70,555,104 (GRCm39)	I1021N	probably damaging	Het
Ncf4	C	A	15: 78,134,582 (GRCm39)	S11R	probably benign	Het
Neb	A	C	2: 52,086,307 (GRCm39)	S5255R	possibly damaging	Het
Nop2	TGATGAAGATGAAGATGA	TGATGAAGATGA	6: 125,114,042 (GRCm39)		probably benign	Het
Or4c102	G	A	2: 88,422,516 (GRCm39)	A123T	probably damaging	Het
Or5ak22	A	T	2: 85,230,785 (GRCm39)	F31I	probably damaging	Het
Or5d16	T	C	2: 87,773,065 (GRCm39)		probably null	Het
Pacs1	T	C	19: 5,203,742 (GRCm39)	I328V	probably damaging	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Pan2	A	G	10: 128,140,247 (GRCm39)	H56R	possibly damaging	Het
Pigo	G	A	4: 43,024,710 (GRCm39)	R124*	probably null	Het
Ppfia2	A	G	10: 106,763,571 (GRCm39)	D1188G	probably benign	Het
Ppp1r16b	A	G	2: 158,603,355 (GRCm39)	N327D	probably damaging	Het
Psd3	A	G	8: 68,172,656 (GRCm39)	C223R	possibly damaging	Het
Rad50	A	G	11: 53,592,934 (GRCm39)	V72A	possibly damaging	Het
Rcor3	T	A	1: 191,785,133 (GRCm39)	D445V	possibly damaging	Het
Rundc1	T	A	11: 101,324,507 (GRCm39)	H404Q	probably benign	Het
Ryr1	T	C	7: 28,779,236 (GRCm39)	K2083E	probably benign	Het
Scd3	C	A	19: 44,224,281 (GRCm39)	H171Q	probably damaging	Het
Scrn2	T	C	11: 96,923,021 (GRCm39)	F155L	probably benign	Het
Serpina12	A	T	12: 103,998,769 (GRCm39)	L323Q	probably damaging	Het
Sptlc3	T	A	2: 139,467,843 (GRCm39)	M467K	probably benign	Het
Stard9	G	T	2: 120,528,970 (GRCm39)	R1742S	possibly damaging	Het
Thbd	A	T	2: 148,249,604 (GRCm39)	L88*	probably null	Het
Tln2	G	A	9: 67,269,969 (GRCm39)	Q477*	probably null	Het
Tnn	T	A	1: 159,943,752 (GRCm39)	E1020D	possibly damaging	Het
Trip12	A	T	1: 84,726,990 (GRCm39)	H3Q	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmp1	G	A	11: 86,534,413 (GRCm39)	Q165*	probably null	Het
Zfp758	T	A	17: 22,594,204 (GRCm39)	M230K	probably benign	Het

Other mutations in Kcnab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01819:Kcnab1	APN	3	65,226,875 (GRCm39)	missense	probably damaging	1.00
IGL01936:Kcnab1	APN	3	65,265,695 (GRCm39)	missense	probably damaging	1.00
IGL02291:Kcnab1	APN	3	65,264,503 (GRCm39)	missense	possibly damaging	0.94
IGL02425:Kcnab1	APN	3	65,209,600 (GRCm39)	missense	possibly damaging	0.59
PIT4418001:Kcnab1	UTSW	3	65,265,741 (GRCm39)	missense	probably benign	0.12
R0017:Kcnab1	UTSW	3	65,264,527 (GRCm39)	missense	probably damaging	0.98
R0017:Kcnab1	UTSW	3	65,264,527 (GRCm39)	missense	probably damaging	0.98
R0811:Kcnab1	UTSW	3	65,205,141 (GRCm39)	missense	probably damaging	1.00
R0812:Kcnab1	UTSW	3	65,205,141 (GRCm39)	missense	probably damaging	1.00
R1926:Kcnab1	UTSW	3	65,283,933 (GRCm39)	missense	possibly damaging	0.73
R2064:Kcnab1	UTSW	3	65,272,060 (GRCm39)	missense	probably benign	0.07
R2152:Kcnab1	UTSW	3	65,278,861 (GRCm39)	missense	probably damaging	0.99
R2153:Kcnab1	UTSW	3	65,278,861 (GRCm39)	missense	probably damaging	0.99
R2197:Kcnab1	UTSW	3	65,017,368 (GRCm39)	missense	probably benign	0.00
R2233:Kcnab1	UTSW	3	65,226,888 (GRCm39)	missense	probably damaging	1.00
R2235:Kcnab1	UTSW	3	65,226,888 (GRCm39)	missense	probably damaging	1.00
R2437:Kcnab1	UTSW	3	65,264,435 (GRCm39)	splice site	probably benign
R3916:Kcnab1	UTSW	3	65,211,585 (GRCm39)	critical splice donor site	probably null
R4093:Kcnab1	UTSW	3	65,207,035 (GRCm39)	missense	possibly damaging	0.96
R4347:Kcnab1	UTSW	3	65,204,896 (GRCm39)	intron	probably benign
R4796:Kcnab1	UTSW	3	65,211,586 (GRCm39)	critical splice donor site	probably null
R5588:Kcnab1	UTSW	3	65,283,976 (GRCm39)	missense	possibly damaging	0.59
R7254:Kcnab1	UTSW	3	65,226,908 (GRCm39)	missense	probably benign	0.08
R7347:Kcnab1	UTSW	3	65,283,952 (GRCm39)	missense	probably benign	0.07
R7424:Kcnab1	UTSW	3	65,173,924 (GRCm39)	missense	possibly damaging	0.80
Z1177:Kcnab1	UTSW	3	65,264,554 (GRCm39)	missense	probably benign	0.08
Z1177:Kcnab1	UTSW	3	65,173,931 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTGAATTTAGAACTCCATCTCTGTC -3'
(R):5'- TTTAGTAACAAGGGGCCACC -3'

Sequencing Primer
(F):5'- CTTCTTGTTAATGTAAGGTGCTGTC -3'
(R):5'- GGGAATACTCTACTAAAATGTAGCCC -3'

Posted On

2014-06-23