Mutagenetix > Incidental Mutation

Incidental Mutation 'R3916:Kcnab1'

309727

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

Accession Numbers

Essential gene?

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

Stock #

R3916 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

64856636-65285643 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 65211585 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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,562,329 (GRCm39)	F319V	possibly damaging	Het
Acad12	A	G	5: 121,737,277 (GRCm39)	V498A	probably damaging	Het
Adam19	A	G	11: 45,951,762 (GRCm39)	E37G	probably benign	Het
Anks3	A	G	16: 4,765,143 (GRCm39)	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,259,668 (GRCm39)	V600D	probably benign	Het
Arhgef18	T	C	8: 3,504,197 (GRCm39)	F939L	probably benign	Het
Arhgef2	A	G	3: 88,540,340 (GRCm39)	N127S	probably damaging	Het
Arid1b	A	G	17: 5,392,928 (GRCm39)	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,493,901 (GRCm39)	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,924,084 (GRCm39)	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,070,101 (GRCm39)	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Cant1	A	G	11: 118,299,572 (GRCm39)	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,076,033 (GRCm39)	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cntnap4	C	G	8: 113,602,165 (GRCm39)	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,384,362 (GRCm39)	Y567*	probably null	Het
Cyp4f18	A	T	8: 72,749,881 (GRCm39)	F256Y	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dop1a	G	A	9: 86,403,186 (GRCm39)	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,079,716 (GRCm39)	T377A	probably damaging	Het
F2	G	A	2: 91,455,833 (GRCm39)	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,302,583 (GRCm39)	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,955,925 (GRCm39)		probably null	Het
Gabarapl2	T	A	8: 112,679,028 (GRCm39)	F115L	probably benign	Het
Heatr3	T	G	8: 88,876,999 (GRCm39)		probably null	Het
Ifi204	T	G	1: 173,583,341 (GRCm39)	K292N	possibly damaging	Het
Itpkc	A	T	7: 26,927,728 (GRCm39)	I62N	probably benign	Het
Krt88	G	A	15: 101,350,809 (GRCm39)		probably null	Het
Larp4	C	T	15: 99,888,284 (GRCm39)	T107I	probably benign	Het
Lmo7	T	C	14: 102,166,778 (GRCm39)		probably benign	Het
Lrrc37a	T	C	11: 103,346,344 (GRCm39)	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,412,101 (GRCm39)	D105V	probably damaging	Het
Mst1	A	G	9: 107,961,494 (GRCm39)	I575V	probably benign	Het
Myh7	C	A	14: 55,211,503 (GRCm39)	E1555D	probably damaging	Het
Nwd1	T	A	8: 73,394,439 (GRCm39)	C608*	probably null	Het
Obox3	C	A	7: 15,361,151 (GRCm39)	C38F	probably benign	Het
P4ha2	A	G	11: 54,017,074 (GRCm39)	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,581,598 (GRCm39)	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,167,296 (GRCm39)	V259A	probably damaging	Het
Scn1a	T	C	2: 66,107,957 (GRCm39)	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,036,999 (GRCm39)	D817E	probably damaging	Het
Sema3b	A	G	9: 107,477,657 (GRCm39)	F482S	probably damaging	Het
Slc35a5	G	C	16: 44,978,521 (GRCm39)		probably benign	Het
Slc6a3	A	G	13: 73,710,427 (GRCm39)	I346V	probably benign	Het
Slu7	G	T	11: 43,331,511 (GRCm39)		probably null	Het
Spns1	A	T	7: 125,970,711 (GRCm39)		probably null	Het
Supv3l1	T	C	10: 62,285,199 (GRCm39)	D89G	possibly damaging	Het
Taf1c	G	A	8: 120,327,244 (GRCm39)	R412W	probably damaging	Het
Tctn3	T	A	19: 40,596,093 (GRCm39)	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,236,574 (GRCm39)	I296T	possibly damaging	Het
Tet2	T	C	3: 133,191,816 (GRCm39)	K873E	possibly damaging	Het
Thada	G	A	17: 84,749,210 (GRCm39)	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,782,884 (GRCm39)	N712Y	probably damaging	Het
Tnks	A	G	8: 35,320,515 (GRCm39)	S719P	probably damaging	Het
Tnrc6a	A	C	7: 122,780,607 (GRCm39)	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,174,560 (GRCm39)	D309G	possibly damaging	Het
Tti2	A	G	8: 31,643,547 (GRCm39)	K221E	possibly damaging	Het
Uba5	A	T	9: 103,931,389 (GRCm39)	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Unc80	T	C	1: 66,716,654 (GRCm39)	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,314,744 (GRCm39)	G331R	probably benign	Het
Xirp2	G	T	2: 67,341,766 (GRCm39)	V1336F	probably benign	Het
Zbed5	T	C	5: 129,931,118 (GRCm39)	Y356H	possibly damaging	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
R1847:Kcnab1	UTSW	3	65,209,615 (GRCm39)	critical splice donor site	probably null
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
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'- AGCCAGTGGTGCAGAAGTTG -3'
(R):5'- AAGAAAGTCGATTACTGGCTGC -3'

Sequencing Primer
(F):5'- GTGCAGAAGTTGCTAAAAAATATAGT -3'
(R):5'- GGTCCTACCATAGGCAAAAGAGTC -3'

Posted On

2015-04-17