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

Kvbeta1.1, mKv(beta)1, Akr8a8

MMRRC Submission

039944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R1926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65109384-65378223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65376512 bp (GRCm38)

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
2810474O19Rik	C	T	6: 149,329,404	T1316I	probably benign	Het
Acsm3	C	T	7: 119,777,136	T362M	probably damaging	Het
Ang6	A	G	14: 44,002,238	V11A	possibly damaging	Het
Ankrd17	A	G	5: 90,244,169	Y1880H	probably damaging	Het
BC049730	G	A	7: 24,714,116	G186R	probably damaging	Het
Bmi1	A	G	2: 18,682,273	I55V	probably benign	Het
Bnipl	G	A	3: 95,243,043	T297M	probably damaging	Het
Bpifa2	T	C	2: 154,013,749	V198A	probably benign	Het
Brms1l	G	T	12: 55,863,161	V239F	possibly damaging	Het
Ccdc158	A	G	5: 92,650,788	V351A	probably benign	Het
Ces1c	A	G	8: 93,127,604	F101S	possibly damaging	Het
Cpb2	T	C	14: 75,242,397	Y15H	probably benign	Het
Dglucy	A	T	12: 100,867,155	N535I	possibly damaging	Het
Dopey1	C	A	9: 86,523,019	H1763Q	probably damaging	Het
Dpy19l1	C	T	9: 24,473,824	M236I	probably benign	Het
Efna2	T	C	10: 80,186,876	Y85H	probably damaging	Het
Eipr1	A	T	12: 28,864,837		probably null	Het
Eln	A	T	5: 134,706,567	Y787*	probably null	Het
Erbb2	G	C	11: 98,425,164	E364D	probably benign	Het
F5	A	G	1: 164,179,508	T294A	probably damaging	Het
Fam47e	A	G	5: 92,585,385	T194A	possibly damaging	Het
Galk1	T	C	11: 116,010,247	D202G	probably damaging	Het
Glb1l2	T	C	9: 26,771,066	D163G	probably damaging	Het
Gmip	A	G	8: 69,815,520	E408G	probably benign	Het
Gp1ba	A	T	11: 70,640,889		probably benign	Het
Grm3	A	T	5: 9,504,881	C804S	probably damaging	Het
Gzmd	A	G	14: 56,130,280	C179R	probably damaging	Het
Hadhb	T	A	5: 30,180,937	L415Q	possibly damaging	Het
Ift80	T	C	3: 68,916,165	Y588C	probably damaging	Het
Jazf1	T	C	6: 53,068,531	T13A	probably benign	Het
Kat8	T	A	7: 127,915,295	Y67*	probably null	Het
Lhx3	A	T	2: 26,202,188	Y230*	probably null	Het
Lmx1b	T	A	2: 33,564,662	M365L	probably damaging	Het
Ly6k	G	T	15: 74,797,202	P76Q	probably benign	Het
Map1b	A	T	13: 99,430,692	H1840Q	unknown	Het
Map3k2	A	G	18: 32,203,110	I117V	probably damaging	Het
Med13	C	A	11: 86,289,073	A1350S	possibly damaging	Het
Midn	T	C	10: 80,151,661	S109P	probably damaging	Het
Msh6	A	G	17: 87,986,225	T803A	probably benign	Het
Nckap1	T	C	2: 80,506,838	Y1018C	probably damaging	Het
Ndufc1	A	T	3: 51,407,395	N63K	probably benign	Het
Neb	A	T	2: 52,279,635	S1811R	probably damaging	Het
Notch1	T	C	2: 26,481,657	D260G	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Oas1g	T	C	5: 120,879,142	K283R	probably benign	Het
Obscn	T	C	11: 59,063,474	T4037A		Het
Olfr1414	A	G	1: 92,511,608	L140P	probably damaging	Het
Olfr449	T	G	6: 42,838,313	L144R	probably damaging	Het
Otop2	A	T	11: 115,326,955	T206S	probably benign	Het
Pamr1	A	G	2: 102,640,997		probably null	Het
Pkp1	G	A	1: 135,877,673	T675I	probably benign	Het
Plxna2	G	A	1: 194,762,450	V717I	probably benign	Het
Ptgs2	T	C	1: 150,100,228	L2P	possibly damaging	Het
Rarg	A	G	15: 102,239,545	F277S	probably damaging	Het
Rassf5	A	T	1: 131,212,339	I161N	probably damaging	Het
Rxfp4	A	G	3: 88,652,352	V264A	probably benign	Het
Secisbp2l	T	A	2: 125,740,677	Q953L	probably damaging	Het
Serpinb9c	T	C	13: 33,150,235	I275V	probably benign	Het
Slc2a12	T	C	10: 22,665,242	V332A	probably damaging	Het
Slc7a1	T	C	5: 148,348,303	S127G	probably damaging	Het
Slc7a4	A	T	16: 17,575,704	V77E	probably damaging	Het
Sp8	G	A	12: 118,849,229	S273N	possibly damaging	Het
Spag6l	G	T	16: 16,763,057	N475K	probably benign	Het
St18	A	G	1: 6,802,689	H216R	probably benign	Het
Tcirg1	C	T	19: 3,902,843		probably benign	Het
Tmeff1	A	G	4: 48,658,788	Y87C	probably damaging	Het
Tmem94	T	C	11: 115,792,900	V713A	possibly damaging	Het
Tnrc6b	G	T	15: 80,881,162	R955L	probably damaging	Het
Trip12	A	G	1: 84,749,291	V1153A	probably damaging	Het
Tshz3	T	C	7: 36,769,375	L263S	probably damaging	Het
Tubb6	G	A	18: 67,401,321		probably null	Het
Ube3a	T	C	7: 59,276,379	W302R	probably damaging	Het
Vcpkmt	A	T	12: 69,582,745	V81E	probably damaging	Het
Vmn1r175	T	A	7: 23,809,041	I54F	possibly damaging	Het
Vwa8	T	A	14: 79,020,635	N741K	probably benign	Het
Yeats2	A	G	16: 20,214,426	T1034A	probably benign	Het
Zc3h6	G	A	2: 128,997,795	R176Q	probably damaging	Het
Zfp207	T	A	11: 80,395,427	Y424*	probably null	Het
Zfp729a	A	G	13: 67,619,557	V851A	probably benign	Het
Zkscan1	G	T	5: 138,101,363	A450S	probably benign	Het
Zkscan3	A	G	13: 21,396,446	V24A	possibly damaging	Het

Other mutations in Kcnab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01819:Kcnab1	APN	3	65319454	missense	probably damaging	1.00
IGL01936:Kcnab1	APN	3	65358274	missense	probably damaging	1.00
IGL02291:Kcnab1	APN	3	65357082	missense	possibly damaging	0.94
IGL02425:Kcnab1	APN	3	65302179	missense	possibly damaging	0.59
PIT4418001:Kcnab1	UTSW	3	65358320	missense	probably benign	0.12
R0017:Kcnab1	UTSW	3	65357106	missense	probably damaging	0.98
R0017:Kcnab1	UTSW	3	65357106	missense	probably damaging	0.98
R0811:Kcnab1	UTSW	3	65297720	missense	probably damaging	1.00
R0812:Kcnab1	UTSW	3	65297720	missense	probably damaging	1.00
R1847:Kcnab1	UTSW	3	65302194	critical splice donor site	probably null
R2064:Kcnab1	UTSW	3	65364639	missense	probably benign	0.07
R2152:Kcnab1	UTSW	3	65371440	missense	probably damaging	0.99
R2153:Kcnab1	UTSW	3	65371440	missense	probably damaging	0.99
R2197:Kcnab1	UTSW	3	65109947	missense	probably benign	0.00
R2233:Kcnab1	UTSW	3	65319467	missense	probably damaging	1.00
R2235:Kcnab1	UTSW	3	65319467	missense	probably damaging	1.00
R2437:Kcnab1	UTSW	3	65357014	splice site	probably benign
R3916:Kcnab1	UTSW	3	65304164	critical splice donor site	probably null
R4093:Kcnab1	UTSW	3	65299614	missense	possibly damaging	0.96
R4347:Kcnab1	UTSW	3	65297475	intron	probably benign
R4796:Kcnab1	UTSW	3	65304165	critical splice donor site	probably null
R5588:Kcnab1	UTSW	3	65376555	missense	possibly damaging	0.59
R7254:Kcnab1	UTSW	3	65319487	missense	probably benign	0.08
R7347:Kcnab1	UTSW	3	65376531	missense	probably benign	0.07
R7424:Kcnab1	UTSW	3	65266503	missense	possibly damaging	0.80
Z1177:Kcnab1	UTSW	3	65266510	missense	probably damaging	0.99
Z1177:Kcnab1	UTSW	3	65357133	missense	probably benign	0.08

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