Mutagenetix > Incidental Mutation

Incidental Mutation 'R2064:Kcnab1'

228934

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

040069-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R2064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65109384-65378223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65364639 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 315 (E315G)

Ref Sequence

ENSEMBL: ENSMUSP00000047480 (fasta)

Gene Model

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

AlphaFold

P63143

Predicted Effect

probably benign
Transcript: ENSMUST00000049230
AA Change: E315G

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000047480
Gene: ENSMUSG00000027827
AA Change: E315G

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: 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

Meta Mutation Damage Score

0.1834

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

99% (114/115)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,186,165	S402T	probably damaging	Het
4933436I01Rik	T	A	X: 67,920,702	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,689,322		probably benign	Het
Actr1b	A	G	1: 36,702,087	F138L	possibly damaging	Het
Adamts14	G	T	10: 61,205,522	P803Q	probably benign	Het
Afap1l1	A	T	18: 61,739,122		probably null	Het
Akt3	A	G	1: 177,102,985	S136P	possibly damaging	Het
Aldh16a1	C	T	7: 45,147,161		probably null	Het
Alg12	A	G	15: 88,812,115	W238R	probably damaging	Het
Amy2a1	T	C	3: 113,530,568	I108V	probably benign	Het
Arhgap23	T	A	11: 97,493,062	C1144S	probably benign	Het
Arhgef40	G	A	14: 51,996,183	V829M	probably damaging	Het
Atg7	C	A	6: 114,703,363	N344K	probably damaging	Het
Aunip	T	A	4: 134,523,307	S188T	probably benign	Het
Bmpr1b	A	T	3: 141,870,807	H88Q	probably benign	Het
Brpf3	G	A	17: 28,821,364	G920S	probably benign	Het
Cdc123	C	T	2: 5,795,543		probably benign	Het
Cdhr1	T	C	14: 37,095,105	R100G	probably benign	Het
Cdkn2d	A	G	9: 21,290,879	V24A	probably damaging	Het
Cirbp	T	C	10: 80,170,332		probably benign	Het
Clptm1l	C	T	13: 73,607,723	Q153*	probably null	Het
Col12a1	A	G	9: 79,662,454		probably benign	Het
Cpox	T	A	16: 58,674,409	C270S	probably benign	Het
Cspg4	A	G	9: 56,896,656	D1677G	probably damaging	Het
Cyp4a10	T	A	4: 115,524,720		probably benign	Het
Dctn4	T	C	18: 60,538,277	F74L	possibly damaging	Het
Dennd5a	G	A	7: 109,898,693		probably benign	Het
Dnaaf3	T	C	7: 4,523,799	I426M	possibly damaging	Het
Dnah9	C	T	11: 66,145,435	S185N	probably benign	Het
Dqx1	T	G	6: 83,058,543		probably benign	Het
Dtx2	C	T	5: 136,030,577	S493F	probably damaging	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Endov	T	C	11: 119,499,582	F12S	probably damaging	Het
Ep400	A	C	5: 110,735,404		probably benign	Het
Epha1	G	T	6: 42,366,053	H187Q	probably benign	Het
Exoc2	T	C	13: 30,935,561	D119G	probably benign	Het
Fbn2	C	T	18: 58,048,849	E1827K	probably damaging	Het
Fbxo41	C	T	6: 85,478,471	W577*	probably null	Het
Fgd6	G	A	10: 94,045,041	A586T	probably damaging	Het
Gm12695	T	C	4: 96,769,726	T69A	probably benign	Het
Gm12888	A	T	4: 121,324,872	W8R	unknown	Het
Gm2959	A	G	14: 42,413,701		noncoding transcript	Het
Gm6214	A	G	3: 140,839,217		noncoding transcript	Het
Gm9912	T	C	3: 149,185,159	T113A	unknown	Het
Gmeb2	A	G	2: 181,253,970	L469P	probably benign	Het
Gosr1	T	C	11: 76,737,398	I177V	probably benign	Het
Gria1	T	C	11: 57,317,708	F810L	probably damaging	Het
Gtf2ird2	C	T	5: 134,216,498	Q533*	probably null	Het
Hadhb	T	A	5: 30,173,798		probably null	Het
Hat1	A	T	2: 71,410,160	Y66F	possibly damaging	Het
Hk1	T	C	10: 62,286,536	Y488C	probably benign	Het
Htt	C	T	5: 34,825,982	T975I	probably benign	Het
Ifnb1	T	A	4: 88,522,759	I6F	possibly damaging	Het
Il19	T	C	1: 130,939,117	H42R	probably benign	Het
Il2rg	A	G	X: 101,267,810	L57P	possibly damaging	Het
Impg2	G	A	16: 56,243,630		probably null	Het
Invs	T	A	4: 48,396,287	L320Q	probably damaging	Het
Itga9	T	C	9: 118,807,293	F683S	probably damaging	Het
Itih2	A	G	2: 10,130,574	S2P	possibly damaging	Het
Itpr3	G	A	17: 27,098,076	M768I	probably benign	Het
Kcnmb2	A	C	3: 32,198,288	I213L	probably damaging	Het
Khdc1a	T	A	1: 21,350,972	M127K	probably benign	Het
Klhl28	T	C	12: 64,943,472	N565S	probably benign	Het
Lcp1	A	G	14: 75,198,075		probably null	Het
Mcm4	T	C	16: 15,634,469	T267A	possibly damaging	Het
Mlxipl	A	T	5: 135,132,777	T517S	possibly damaging	Het
Mpp3	T	A	11: 102,000,690	I541L	probably benign	Het
Mpp4	G	A	1: 59,143,782	P322L	possibly damaging	Het
Myh15	G	A	16: 49,155,621	A1351T	possibly damaging	Het
Nacc1	A	T	8: 84,673,118	M490K	probably benign	Het
Nbeal1	C	A	1: 60,270,356	Q496K	possibly damaging	Het
Oas1g	T	C	5: 120,885,883	E121G	probably damaging	Het
Olfr125	T	A	17: 37,835,002	M1K	probably null	Het
Pard3	T	C	8: 127,610,611	L1236P	probably damaging	Het
Phc2	T	C	4: 128,747,136	F672S	probably damaging	Het
Phf21a	C	A	2: 92,327,077	N183K	possibly damaging	Het
Plxnb3	T	A	X: 73,771,751	Y1845*	probably null	Het
Prl3c1	G	A	13: 27,196,737		probably null	Het
Prl7a2	T	A	13: 27,660,887	Y172F	probably damaging	Het
Psg16	T	G	7: 17,093,748	S210A	possibly damaging	Het
Psg25	T	A	7: 18,521,253	K446M	probably damaging	Het
Ptprz1	A	G	6: 23,050,389		probably benign	Het
Rgs7	A	T	1: 175,121,942	F160L	probably damaging	Het
Rpl22l1	A	T	3: 28,806,808	E57D	possibly damaging	Het
Rpl35	A	G	2: 39,004,741	L44P	possibly damaging	Het
Rtn4r	T	C	16: 18,151,257	L183P	probably damaging	Het
Skint1	T	A	4: 112,025,533	V258D	probably benign	Het
Slc4a7	G	A	14: 14,733,773	R67H	probably damaging	Het
Smg1	C	T	7: 118,156,867		probably benign	Het
Smurf2	T	C	11: 106,871,548	T39A	probably damaging	Het
Sspo	A	T	6: 48,473,662	D2595V	probably damaging	Het
Tatdn2	A	G	6: 113,704,142	K379E	probably benign	Het
Tbc1d14	G	A	5: 36,522,930	R68*	probably null	Het
Tgm1	A	G	14: 55,709,471	I360T	probably damaging	Het
Thrap3	T	C	4: 126,175,396	Y654C	possibly damaging	Het
Traf1	A	T	2: 34,948,190	I212N	probably benign	Het
Ttc17	C	A	2: 94,366,547	W485L	probably damaging	Het
Ttn	C	A	2: 76,938,331	V2920F	probably damaging	Het
Tyr	T	C	7: 87,492,843	I93V	probably benign	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Vmn1r212	A	G	13: 22,884,115	V16A	probably benign	Het
Vmn1r55	A	G	7: 5,147,049	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,524,553	H412L	possibly damaging	Het
Xirp1	T	C	9: 120,016,896	I974V	probably benign	Het
Zap70	A	G	1: 36,779,134	T301A	probably benign	Het
Zfhx4	A	G	3: 5,398,927	K1382E	probably damaging	Het
Zfp280b	T	A	10: 76,039,183	C299S	probably damaging	Het
Zfp352	C	T	4: 90,225,120	S499L	probably benign	Het
Zfp423	G	A	8: 87,781,358	A661V	probably benign	Het
Zfp57	T	A	17: 37,009,676	F141I	possibly damaging	Het
Zfp946	A	T	17: 22,455,465	H400L	probably damaging	Het
Zgrf1	T	C	3: 127,613,350	C1589R	probably 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
R1926:Kcnab1	UTSW	3	65376512	missense	possibly damaging	0.73
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'- TGTACCTGTGTGCACTCATG -3'
(R):5'- TGGGTCAACCATAGAAAAGTATGC -3'

Sequencing Primer
(F):5'- GTTCATGCTGGAACTCAAACTCAGG -3'
(R):5'- TAATGCAGAGCCTGGTCT -3'

Posted On

2014-09-17