Mutagenetix > Incidental Mutation

Incidental Mutation 'R1926:Kcnab1'

213418

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

039944-MU

Accession Numbers

Essential gene?

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

Stock #

R1926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64856636-65285643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65283933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 384 (E384K)

Ref Sequence

ENSEMBL: ENSMUSP00000047480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029414] [ENSMUST00000049230]

AlphaFold

P63143

Predicted Effect

probably benign
Transcript: ENSMUST00000029414

SMART Domains

Protein: ENSMUSP00000029414
Gene: ENSMUSG00000027828

Domain	Start	End	E-Value	Type
Pfam:TRAP-gamma	12	183	5.6e-89	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049230
AA Change: E384K

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047480
Gene: ENSMUSG00000027827
AA Change: E384K

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

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

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.6%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	C	T	7: 119,376,359 (GRCm39)	T362M	probably damaging	Het
Ang6	A	G	14: 44,239,695 (GRCm39)	V11A	possibly damaging	Het
Ankrd17	A	G	5: 90,392,028 (GRCm39)	Y1880H	probably damaging	Het
Bmi1	A	G	2: 18,687,084 (GRCm39)	I55V	probably benign	Het
Bnipl	G	A	3: 95,150,354 (GRCm39)	T297M	probably damaging	Het
Bpifa2	T	C	2: 153,855,669 (GRCm39)	V198A	probably benign	Het
Brms1l	G	T	12: 55,909,946 (GRCm39)	V239F	possibly damaging	Het
Ccdc158	A	G	5: 92,798,647 (GRCm39)	V351A	probably benign	Het
Ces1c	A	G	8: 93,854,232 (GRCm39)	F101S	possibly damaging	Het
Cpb2	T	C	14: 75,479,837 (GRCm39)	Y15H	probably benign	Het
Dglucy	A	T	12: 100,833,414 (GRCm39)	N535I	possibly damaging	Het
Dop1a	C	A	9: 86,405,072 (GRCm39)	H1763Q	probably damaging	Het
Dpy19l1	C	T	9: 24,385,120 (GRCm39)	M236I	probably benign	Het
Efna2	T	C	10: 80,022,710 (GRCm39)	Y85H	probably damaging	Het
Eipr1	A	T	12: 28,914,836 (GRCm39)		probably null	Het
Eln	A	T	5: 134,735,421 (GRCm39)	Y787*	probably null	Het
Erbb2	G	C	11: 98,315,990 (GRCm39)	E364D	probably benign	Het
F5	A	G	1: 164,007,077 (GRCm39)	T294A	probably damaging	Het
Fam47e	A	G	5: 92,733,244 (GRCm39)	T194A	possibly damaging	Het
Galk1	T	C	11: 115,901,073 (GRCm39)	D202G	probably damaging	Het
Glb1l2	T	C	9: 26,682,362 (GRCm39)	D163G	probably damaging	Het
Gmip	A	G	8: 70,268,170 (GRCm39)	E408G	probably benign	Het
Gp1ba	A	T	11: 70,531,715 (GRCm39)		probably benign	Het
Grm3	A	T	5: 9,554,881 (GRCm39)	C804S	probably damaging	Het
Gzmd	A	G	14: 56,367,737 (GRCm39)	C179R	probably damaging	Het
Hadhb	T	A	5: 30,385,935 (GRCm39)	L415Q	possibly damaging	Het
Ift80	T	C	3: 68,823,498 (GRCm39)	Y588C	probably damaging	Het
Jazf1	T	C	6: 53,045,516 (GRCm39)	T13A	probably benign	Het
Kat8	T	A	7: 127,514,467 (GRCm39)	Y67*	probably null	Het
Lhx3	A	T	2: 26,092,200 (GRCm39)	Y230*	probably null	Het
Lmx1b	T	A	2: 33,454,674 (GRCm39)	M365L	probably damaging	Het
Ly6k	G	T	15: 74,669,051 (GRCm39)	P76Q	probably benign	Het
Lypd10	G	A	7: 24,413,541 (GRCm39)	G186R	probably damaging	Het
Map1b	A	T	13: 99,567,200 (GRCm39)	H1840Q	unknown	Het
Map3k2	A	G	18: 32,336,163 (GRCm39)	I117V	probably damaging	Het
Med13	C	A	11: 86,179,899 (GRCm39)	A1350S	possibly damaging	Het
Midn	T	C	10: 79,987,495 (GRCm39)	S109P	probably damaging	Het
Msh6	A	G	17: 88,293,653 (GRCm39)	T803A	probably benign	Het
Nckap1	T	C	2: 80,337,182 (GRCm39)	Y1018C	probably damaging	Het
Ndufc1	A	T	3: 51,314,816 (GRCm39)	N63K	probably benign	Het
Neb	A	T	2: 52,169,647 (GRCm39)	S1811R	probably damaging	Het
Notch1	T	C	2: 26,371,669 (GRCm39)	D260G	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Oas1g	T	C	5: 121,017,205 (GRCm39)	K283R	probably benign	Het
Obscn	T	C	11: 58,954,300 (GRCm39)	T4037A		Het
Or6b1	T	G	6: 42,815,247 (GRCm39)	L144R	probably damaging	Het
Or6b3	A	G	1: 92,439,330 (GRCm39)	L140P	probably damaging	Het
Otop2	A	T	11: 115,217,781 (GRCm39)	T206S	probably benign	Het
Pamr1	A	G	2: 102,471,342 (GRCm39)		probably null	Het
Pkp1	G	A	1: 135,805,411 (GRCm39)	T675I	probably benign	Het
Plxna2	G	A	1: 194,444,758 (GRCm39)	V717I	probably benign	Het
Ptgs2	T	C	1: 149,975,979 (GRCm39)	L2P	possibly damaging	Het
Rarg	A	G	15: 102,147,980 (GRCm39)	F277S	probably damaging	Het
Rassf5	A	T	1: 131,140,076 (GRCm39)	I161N	probably damaging	Het
Resf1	C	T	6: 149,230,902 (GRCm39)	T1316I	probably benign	Het
Rxfp4	A	G	3: 88,559,659 (GRCm39)	V264A	probably benign	Het
Secisbp2l	T	A	2: 125,582,597 (GRCm39)	Q953L	probably damaging	Het
Serpinb9c	T	C	13: 33,334,218 (GRCm39)	I275V	probably benign	Het
Slc2a12	T	C	10: 22,541,141 (GRCm39)	V332A	probably damaging	Het
Slc7a1	T	C	5: 148,285,113 (GRCm39)	S127G	probably damaging	Het
Slc7a4	A	T	16: 17,393,568 (GRCm39)	V77E	probably damaging	Het
Sp8	G	A	12: 118,812,964 (GRCm39)	S273N	possibly damaging	Het
Spag6l	G	T	16: 16,580,921 (GRCm39)	N475K	probably benign	Het
St18	A	G	1: 6,872,913 (GRCm39)	H216R	probably benign	Het
Tcirg1	C	T	19: 3,952,843 (GRCm39)		probably benign	Het
Tmeff1	A	G	4: 48,658,788 (GRCm39)	Y87C	probably damaging	Het
Tmem94	T	C	11: 115,683,726 (GRCm39)	V713A	possibly damaging	Het
Tnrc6b	G	T	15: 80,765,363 (GRCm39)	R955L	probably damaging	Het
Trip12	A	G	1: 84,727,012 (GRCm39)	V1153A	probably damaging	Het
Tshz3	T	C	7: 36,468,800 (GRCm39)	L263S	probably damaging	Het
Tubb6	G	A	18: 67,534,391 (GRCm39)		probably null	Het
Ube3a	T	C	7: 58,926,127 (GRCm39)	W302R	probably damaging	Het
Vcpkmt	A	T	12: 69,629,519 (GRCm39)	V81E	probably damaging	Het
Vmn1r175	T	A	7: 23,508,466 (GRCm39)	I54F	possibly damaging	Het
Vwa8	T	A	14: 79,258,075 (GRCm39)	N741K	probably benign	Het
Yeats2	A	G	16: 20,033,176 (GRCm39)	T1034A	probably benign	Het
Zc3h6	G	A	2: 128,839,715 (GRCm39)	R176Q	probably damaging	Het
Zfp207	T	A	11: 80,286,253 (GRCm39)	Y424*	probably null	Het
Zfp729a	A	G	13: 67,767,676 (GRCm39)	V851A	probably benign	Het
Zkscan1	G	T	5: 138,099,625 (GRCm39)	A450S	probably benign	Het
Zkscan3	A	G	13: 21,580,616 (GRCm39)	V24A	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
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'- ACTTGAAGCTTATCCATTGTGGGG -3'
(R):5'- CACAGTGGTAGCAACAGCAG -3'

Sequencing Primer
(F):5'- CTTATCCATTGTGGGGCATGG -3'
(R):5'- CTCAGAGAATCCTGGGACACTAG -3'

Posted On

2014-07-14