Mutagenetix > Incidental Mutation

Incidental Mutation 'R7880:Kcnab3'

608711

Institutional Source

Beutler Lab

Gene Symbol

Kcnab3

Ensembl Gene

ENSMUSG00000018470

Gene Name

potassium voltage-gated channel, shaker-related subfamily, beta member 3

Synonyms

Kcnab4, C330022D06Rik, mKv(beta)4

MMRRC Submission

045932-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7880 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69217084-69223867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69222290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 311 (Y311C)

Ref Sequence

ENSEMBL: ENSMUSP00000018614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018614]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000018614
AA Change: Y311C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470
AA Change: Y311C

Domain	Start	End	E-Value	Type
low complexity region	23	49	N/A	INTRINSIC
low complexity region	54	65	N/A	INTRINSIC
Pfam:Aldo_ket_red	92	396	1.6e-70	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity of the alpha subunit. [provided by RefSeq, May 2012]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	A	7: 133,511,691 (GRCm39)	D703V	possibly damaging	Het
Adamts1	G	A	16: 85,594,940 (GRCm39)	R340*	probably null	Het
Akap13	A	G	7: 75,235,964 (GRCm39)	T180A	probably damaging	Het
Arhgap31	G	A	16: 38,423,087 (GRCm39)	A993V	probably benign	Het
Asxl3	C	T	18: 22,655,208 (GRCm39)	P1073S	possibly damaging	Het
Bmp3	T	G	5: 99,020,434 (GRCm39)	S286A	probably damaging	Het
Cacna2d4	C	T	6: 119,326,116 (GRCm39)	S1078F	probably damaging	Het
Cd101	A	G	3: 100,915,182 (GRCm39)	L799P	probably benign	Het
Chst13	C	T	6: 90,302,062 (GRCm39)	R28H	possibly damaging	Het
CN725425	T	A	15: 91,130,308 (GRCm39)	C390*	probably null	Het
Crabp1	C	A	9: 54,672,942 (GRCm39)	C82*	probably null	Het
Cyp2b23	A	C	7: 26,372,559 (GRCm39)	V352G	probably damaging	Het
Dmrta1	T	A	4: 89,577,081 (GRCm39)	V179E	possibly damaging	Het
Ect2l	T	C	10: 18,012,702 (GRCm39)	D839G	possibly damaging	Het
Espnl	A	T	1: 91,272,488 (GRCm39)	E616V	possibly damaging	Het
Fam50b	C	A	13: 34,930,802 (GRCm39)	Q93K	probably benign	Het
Focad	C	T	4: 88,319,407 (GRCm39)	R1539C	unknown	Het
Gm14443	T	A	2: 175,011,163 (GRCm39)	I428L	probably benign	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gramd1c	C	G	16: 43,812,439 (GRCm39)	A193P	probably benign	Het
Gsn	A	G	2: 35,173,939 (GRCm39)	H54R	probably damaging	Het
Gucy2g	T	A	19: 55,194,712 (GRCm39)	I902F	probably damaging	Het
H2-T9	T	A	17: 36,438,761 (GRCm39)	H210L	possibly damaging	Het
Heg1	T	C	16: 33,539,879 (GRCm39)	S280P	possibly damaging	Het
Herc1	G	T	9: 66,415,506 (GRCm39)	R4827L	probably damaging	Het
Igsf21	A	G	4: 139,884,819 (GRCm39)	C46R	probably damaging	Het
Kansl1	G	T	11: 104,314,979 (GRCm39)	A353D	probably damaging	Het
Kctd18	A	G	1: 58,006,778 (GRCm39)	I24T	possibly damaging	Het
Lpcat4	C	A	2: 112,070,376 (GRCm39)	H30N	probably benign	Het
Lrrc4c	A	G	2: 97,461,143 (GRCm39)	I590V	probably benign	Het
Lrrc69	T	C	4: 14,703,946 (GRCm39)	I291M	possibly damaging	Het
Nsun6	A	C	2: 15,001,190 (GRCm39)	C455W	probably damaging	Het
Or12e1	T	A	2: 87,022,434 (GRCm39)	C134*	probably null	Het
Or4c3	A	T	2: 89,852,381 (GRCm39)	F10I	probably damaging	Het
Or5ak22	G	T	2: 85,230,379 (GRCm39)	S166Y	possibly damaging	Het
Or7g19	T	G	9: 18,856,024 (GRCm39)	L27V	probably benign	Het
Orc6	T	C	8: 86,031,873 (GRCm39)	I162T	probably benign	Het
Pex13	A	T	11: 23,599,369 (GRCm39)	S381T	probably benign	Het
Ppil1	G	A	17: 29,480,762 (GRCm39)	H54Y	probably damaging	Het
Prrt4	T	C	6: 29,170,155 (GRCm39)	I766V	probably benign	Het
Rab32	C	T	10: 10,422,159 (GRCm39)	V187M	probably damaging	Het
Sema5a	T	A	15: 32,686,954 (GRCm39)	I1022N	probably damaging	Het
Sipa1l2	T	C	8: 126,191,132 (GRCm39)	T953A	probably damaging	Het
Snapc3	T	C	4: 83,353,431 (GRCm39)	S157P	probably damaging	Het
Spink5	A	G	18: 44,119,393 (GRCm39)	R235G	probably benign	Het
Stx5a	G	A	19: 8,719,692 (GRCm39)	G19D	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Taf4	G	A	2: 179,577,726 (GRCm39)	R532*	probably null	Het
Tmpo	T	A	10: 91,001,892 (GRCm39)	K106*	probably null	Het
Trnt1	T	C	6: 106,746,517 (GRCm39)		probably null	Het
Vmn1r228	A	T	17: 20,996,672 (GRCm39)	I282N	probably damaging	Het
Vps13d	A	T	4: 144,907,684 (GRCm39)		probably null	Het
Zfp703	A	G	8: 27,468,718 (GRCm39)	I51V	unknown	Het
Zfp787	A	G	7: 6,135,190 (GRCm39)	F354L	probably benign	Het
Znrf2	T	C	6: 54,794,332 (GRCm39)	V111A	probably benign	Het
Zwint	G	T	10: 72,492,924 (GRCm39)	R182L	probably benign	Het

Other mutations in Kcnab3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Kcnab3	APN	11	69,222,129 (GRCm39)	missense	probably benign	0.12
IGL01140:Kcnab3	APN	11	69,220,705 (GRCm39)	missense	probably benign
IGL01642:Kcnab3	APN	11	69,221,256 (GRCm39)	missense	probably benign
IGL02589:Kcnab3	APN	11	69,222,928 (GRCm39)	missense	probably benign	0.00
H8786:Kcnab3	UTSW	11	69,219,093 (GRCm39)	missense	probably damaging	1.00
R0046:Kcnab3	UTSW	11	69,221,053 (GRCm39)	critical splice donor site	probably null
R0046:Kcnab3	UTSW	11	69,221,053 (GRCm39)	critical splice donor site	probably null
R2247:Kcnab3	UTSW	11	69,221,016 (GRCm39)	missense	probably damaging	0.99
R3771:Kcnab3	UTSW	11	69,219,389 (GRCm39)	missense	probably damaging	0.97
R4725:Kcnab3	UTSW	11	69,221,294 (GRCm39)	missense	probably benign	0.05
R4927:Kcnab3	UTSW	11	69,217,572 (GRCm39)	missense	possibly damaging	0.51
R6237:Kcnab3	UTSW	11	69,219,401 (GRCm39)	missense	probably benign	0.24
R7164:Kcnab3	UTSW	11	69,222,184 (GRCm39)	critical splice donor site	probably null
R7676:Kcnab3	UTSW	11	69,217,553 (GRCm39)	missense	probably benign
R8851:Kcnab3	UTSW	11	69,218,990 (GRCm39)	critical splice donor site	probably null
R9255:Kcnab3	UTSW	11	69,222,337 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCGGCCTCATTACTAGCAAG -3'
(R):5'- CAGATAGATCAGTGTGGGCAC -3'

Sequencing Primer
(F):5'- CCTCATTACTAGCAAGTATGATGGGC -3'
(R):5'- GGTCTTCTCTAAGAACGAACTAGTC -3'

Posted On

2019-12-20