Mutagenetix > Incidental Mutation

Incidental Mutation 'R2152:Kcnab1'

234353

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

040155-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R2152 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65109384-65378223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65371440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 371 (I371F)

Ref Sequence

ENSEMBL: ENSMUSP00000047480 (fasta)

Gene Model

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

AlphaFold

P63143

Predicted Effect

probably damaging
Transcript: ENSMUST00000049230
AA Change: I371F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047480
Gene: ENSMUSG00000027827
AA Change: I371F

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: 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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	A	17: 33,066,934 (GRCm38)	D298V	probably damaging	Het
Ackr3	A	T	1: 90,213,843 (GRCm38)	Y8F	probably benign	Het
Acy1	T	C	9: 106,435,617 (GRCm38)	E175G	probably damaging	Het
Add2	T	C	6: 86,098,598 (GRCm38)	L243P	probably damaging	Het
Adsl	A	G	15: 80,967,662 (GRCm38)	D407G	probably damaging	Het
Afg3l1	T	G	8: 123,494,836 (GRCm38)	I478S	probably damaging	Het
Arfrp1	T	C	2: 181,359,694 (GRCm38)	T108A	probably benign	Het
Art5	A	G	7: 102,098,200 (GRCm38)	L124P	possibly damaging	Het
Asap2	A	T	12: 21,112,083 (GRCm38)	T14S	probably damaging	Het
Atp2c2	A	G	8: 119,756,102 (GRCm38)	N901S	probably benign	Het
Bbs12	G	T	3: 37,321,160 (GRCm38)	E586*	probably null	Het
Bicd2	G	T	13: 49,379,576 (GRCm38)	C546F	probably damaging	Het
Bid	A	T	6: 120,900,254 (GRCm38)	L42Q	probably damaging	Het
Bpifb9a	A	G	2: 154,260,135 (GRCm38)	K51E	probably benign	Het
Calcr	G	T	6: 3,687,615 (GRCm38)	T424K	probably benign	Het
Cd46	A	G	1: 195,062,413 (GRCm38)	I339T	probably benign	Het
Chek1	C	A	9: 36,723,983 (GRCm38)	V35F	probably damaging	Het
Cntn3	A	G	6: 102,206,537 (GRCm38)	I719T	probably damaging	Het
Cyb5r1	T	C	1: 134,409,625 (GRCm38)	I163T	possibly damaging	Het
Cyp2d26	A	T	15: 82,792,706 (GRCm38)		probably null	Het
Dclk1	A	G	3: 55,247,212 (GRCm38)	Y21C	probably damaging	Het
Dgcr2	G	A	16: 17,891,487 (GRCm38)		probably null	Het
Dhx38	T	C	8: 109,560,674 (GRCm38)	S221G	probably benign	Het
Dis3l	T	A	9: 64,307,263 (GRCm38)	N981I	probably benign	Het
Dnah3	C	T	7: 119,952,013 (GRCm38)	V3028I	probably benign	Het
Dnah6	T	C	6: 73,049,166 (GRCm38)	Y3448C	probably benign	Het
Dok5	G	A	2: 170,800,896 (GRCm38)	G38D	probably damaging	Het
Doxl2	T	A	6: 48,976,539 (GRCm38)	I466N	probably damaging	Het
Epb41l1	A	G	2: 156,514,128 (GRCm38)	D528G	probably damaging	Het
Fat4	A	T	3: 38,983,395 (GRCm38)	Y3732F	probably damaging	Het
Fgfr4	A	T	13: 55,166,964 (GRCm38)	Y640F	probably damaging	Het
Foxo6	T	A	4: 120,268,614 (GRCm38)	D328V	probably benign	Het
Foxp1	A	G	6: 99,016,541 (GRCm38)	L134P	probably damaging	Het
Frem2	G	A	3: 53,517,029 (GRCm38)	R2996*	probably null	Het
Fuk	T	A	8: 110,889,072 (GRCm38)	T542S	probably benign	Het
Garem2	T	C	5: 30,108,299 (GRCm38)	S54P	probably damaging	Het
Gcn1l1	T	A	5: 115,609,829 (GRCm38)	I1765N	probably benign	Het
Gm4787	T	A	12: 81,377,219 (GRCm38)	I722F	probably benign	Het
Gpc6	G	T	14: 116,926,092 (GRCm38)	A53S	probably benign	Het
Gtpbp8	A	G	16: 44,740,027 (GRCm38)		probably null	Het
H2-Q2	T	C	17: 35,345,276 (GRCm38)		probably null	Het
Hapln2	C	A	3: 88,023,613 (GRCm38)	R157L	probably benign	Het
Hemgn	C	A	4: 46,396,607 (GRCm38)	E210*	probably null	Het
Hpse	T	A	5: 100,691,403 (GRCm38)	K360*	probably null	Het
Iqcj	A	T	3: 68,055,310 (GRCm38)	E68V	probably damaging	Het
Kat2a	T	C	11: 100,712,346 (GRCm38)		probably benign	Het
Kat6b	A	T	14: 21,668,667 (GRCm38)	H1138L	probably benign	Het
Klhl30	C	A	1: 91,357,824 (GRCm38)	A356D	probably benign	Het
Klra3	G	C	6: 130,333,144 (GRCm38)	R138G	probably benign	Het
Mgea5	A	T	19: 45,758,022 (GRCm38)	Y779*	probably null	Het
Micu1	G	T	10: 59,863,288 (GRCm38)	M468I	probably benign	Het
Mrc1	A	G	2: 14,327,864 (GRCm38)	T1292A	probably damaging	Het
Myh8	G	A	11: 67,294,469 (GRCm38)	E849K	probably damaging	Het
Myom3	G	T	4: 135,803,233 (GRCm38)	R1152L	probably benign	Het
Nedd4l	T	A	18: 65,210,330 (GRCm38)	H820Q	probably damaging	Het
Nlrp4g	T	A	9: 124,353,339 (GRCm38)		noncoding transcript	Het
Olfr1339	C	T	4: 118,735,249 (GRCm38)	A240V	possibly damaging	Het
Olfr1413	T	C	1: 92,573,908 (GRCm38)	S246P	probably damaging	Het
Olfr24	T	C	9: 18,755,095 (GRCm38)	D180G	probably damaging	Het
Olfr33	G	T	7: 102,713,581 (GRCm38)	H277Q	probably benign	Het
Olfr435	A	G	6: 43,202,069 (GRCm38)	I142V	probably benign	Het
Olfr592	A	T	7: 103,186,640 (GRCm38)	D13V	probably benign	Het
Olfr913	G	T	9: 38,594,411 (GRCm38)	L63F	probably damaging	Het
Olfr969	A	T	9: 39,795,647 (GRCm38)	I91F	probably benign	Het
Otop1	T	A	5: 38,302,851 (GRCm38)	M587K	probably damaging	Het
Pgm5	T	A	19: 24,834,815 (GRCm38)	I118F	probably damaging	Het
Phc2	A	G	4: 128,745,066 (GRCm38)	*41W	probably null	Het
Piezo2	A	T	18: 63,114,041 (GRCm38)	M532K	probably damaging	Het
Pjvk	A	T	2: 76,658,369 (GRCm38)	I295F	probably benign	Het
Popdc2	A	G	16: 38,363,120 (GRCm38)	N155S	possibly damaging	Het
Ppp4r3a	G	T	12: 101,042,567 (GRCm38)	N684K	probably damaging	Het
Prpf4b	T	A	13: 34,900,419 (GRCm38)	M930K	probably benign	Het
Ptpn12	C	A	5: 21,002,468 (GRCm38)	Q297H	probably damaging	Het
Ptprz1	C	A	6: 23,030,671 (GRCm38)	L1010I	probably damaging	Het
Rabepk	A	T	2: 34,784,550 (GRCm38)	D232E	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,985 (GRCm38)	H636R	probably benign	Het
Rb1	T	C	14: 73,288,725 (GRCm38)	T169A	probably benign	Het
Rcc2	T	C	4: 140,717,117 (GRCm38)	L373P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Rrbp1	A	G	2: 143,954,198 (GRCm38)	L1200P	possibly damaging	Het
Sdk1	A	G	5: 141,792,944 (GRCm38)	N226D	probably damaging	Het
Selenbp1	G	A	3: 94,944,130 (GRCm38)	R398H	probably damaging	Het
Selenoo	A	G	15: 89,099,282 (GRCm38)	M509V	probably benign	Het
Sidt2	T	C	9: 45,945,340 (GRCm38)	D477G	probably damaging	Het
Slc2a5	T	G	4: 150,125,638 (GRCm38)	S27A	probably damaging	Het
Slc30a5	A	T	13: 100,803,949 (GRCm38)	H619Q	probably damaging	Het
Slc5a9	A	G	4: 111,893,223 (GRCm38)	I146T	possibly damaging	Het
Slc6a1	G	T	6: 114,307,770 (GRCm38)	G263V	probably damaging	Het
Slmap	A	G	14: 26,418,247 (GRCm38)	Y771H	probably damaging	Het
Snx29	A	G	16: 11,400,843 (GRCm38)	D181G	possibly damaging	Het
Spata31d1c	G	A	13: 65,033,965 (GRCm38)		probably null	Het
Stat5a	C	A	11: 100,874,090 (GRCm38)	T213N	probably benign	Het
Stt3a	A	T	9: 36,747,996 (GRCm38)	V349D	probably damaging	Het
Tcf20	A	T	15: 82,855,602 (GRCm38)	D549E	probably damaging	Het
Thbs2	T	A	17: 14,673,209 (GRCm38)	D903V	probably damaging	Het
Tln2	T	C	9: 67,302,560 (GRCm38)	T432A	probably damaging	Het
Tmc1	A	T	19: 20,856,675 (GRCm38)	N241K	probably benign	Het
Tmem260	G	T	14: 48,477,609 (GRCm38)	R240L	possibly damaging	Het
Tnfaip6	A	T	2: 52,043,730 (GRCm38)	E32D	probably damaging	Het
Trpa1	A	T	1: 14,899,401 (GRCm38)	H381Q	probably damaging	Het
Tsen2	T	C	6: 115,547,975 (GRCm38)	I45T	possibly damaging	Het
Ttc6	G	A	12: 57,705,552 (GRCm38)	V1415I	probably damaging	Het
Ttll7	G	T	3: 146,930,189 (GRCm38)	R426L	probably damaging	Het
Ttn	A	C	2: 76,740,138 (GRCm38)	S26804A	probably damaging	Het
Ubqlnl	A	T	7: 104,148,683 (GRCm38)	C536S	probably benign	Het
Vmn2r73	A	G	7: 85,857,728 (GRCm38)	V792A	probably benign	Het
Zfp345	T	C	2: 150,472,658 (GRCm38)	T320A	probably benign	Het
Zfp407	T	C	18: 84,209,649 (GRCm38)	D1945G	possibly damaging	Het

Other mutations in Kcnab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01819:Kcnab1	APN	3	65,319,454 (GRCm38)	missense	probably damaging	1.00
IGL01936:Kcnab1	APN	3	65,358,274 (GRCm38)	missense	probably damaging	1.00
IGL02291:Kcnab1	APN	3	65,357,082 (GRCm38)	missense	possibly damaging	0.94
IGL02425:Kcnab1	APN	3	65,302,179 (GRCm38)	missense	possibly damaging	0.59
PIT4418001:Kcnab1	UTSW	3	65,358,320 (GRCm38)	missense	probably benign	0.12
R0017:Kcnab1	UTSW	3	65,357,106 (GRCm38)	missense	probably damaging	0.98
R0017:Kcnab1	UTSW	3	65,357,106 (GRCm38)	missense	probably damaging	0.98
R0811:Kcnab1	UTSW	3	65,297,720 (GRCm38)	missense	probably damaging	1.00
R0812:Kcnab1	UTSW	3	65,297,720 (GRCm38)	missense	probably damaging	1.00
R1847:Kcnab1	UTSW	3	65,302,194 (GRCm38)	critical splice donor site	probably null
R1926:Kcnab1	UTSW	3	65,376,512 (GRCm38)	missense	possibly damaging	0.73
R2064:Kcnab1	UTSW	3	65,364,639 (GRCm38)	missense	probably benign	0.07
R2153:Kcnab1	UTSW	3	65,371,440 (GRCm38)	missense	probably damaging	0.99
R2197:Kcnab1	UTSW	3	65,109,947 (GRCm38)	missense	probably benign	0.00
R2233:Kcnab1	UTSW	3	65,319,467 (GRCm38)	missense	probably damaging	1.00
R2235:Kcnab1	UTSW	3	65,319,467 (GRCm38)	missense	probably damaging	1.00
R2437:Kcnab1	UTSW	3	65,357,014 (GRCm38)	splice site	probably benign
R3916:Kcnab1	UTSW	3	65,304,164 (GRCm38)	critical splice donor site	probably null
R4093:Kcnab1	UTSW	3	65,299,614 (GRCm38)	missense	possibly damaging	0.96
R4347:Kcnab1	UTSW	3	65,297,475 (GRCm38)	intron	probably benign
R4796:Kcnab1	UTSW	3	65,304,165 (GRCm38)	critical splice donor site	probably null
R5588:Kcnab1	UTSW	3	65,376,555 (GRCm38)	missense	possibly damaging	0.59
R7254:Kcnab1	UTSW	3	65,319,487 (GRCm38)	missense	probably benign	0.08
R7347:Kcnab1	UTSW	3	65,376,531 (GRCm38)	missense	probably benign	0.07
R7424:Kcnab1	UTSW	3	65,266,503 (GRCm38)	missense	possibly damaging	0.80
Z1177:Kcnab1	UTSW	3	65,357,133 (GRCm38)	missense	probably benign	0.08
Z1177:Kcnab1	UTSW	3	65,266,510 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGCCCAGAAAACAGTGTGTC -3'
(R):5'- GCTGGAATTTGAGACACTTGTTTC -3'

Sequencing Primer
(F):5'- AACAGTGTGTCCTCTAACCTAC -3'
(R):5'- TTTCTTAAGTAAGCAGAGGACAGCC -3'

Posted On

2014-10-01