Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01642:Kcnab3'

93678

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnab3

Ensembl Gene

ENSMUSG00000018470

Gene Name

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

Synonyms

Kcnab4, C330022D06Rik, mKv(beta)4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01642

Quality Score

Status

Chromosome

Chromosomal Location

69217084-69223867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69221256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 191 (E191G)

Ref Sequence

ENSEMBL: ENSMUSP00000018614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018614] [ENSMUST00000060956] [ENSMUST00000102601] [ENSMUST00000102602] [ENSMUST00000108662]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018614
AA Change: E191G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470
AA Change: E191G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000060956

SMART Domains

Protein: ENSMUSP00000050153
Gene: ENSMUSG00000049299

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	109	2.2e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102601

SMART Domains

Protein: ENSMUSP00000099661
Gene: ENSMUSG00000049299

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	137	1.4e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102602

SMART Domains

Protein: ENSMUSP00000099662
Gene: ENSMUSG00000049299

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	137	1.4e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108662

SMART Domains

Protein: ENSMUSP00000104302
Gene: ENSMUSG00000049299

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	127	2.2e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142328

Coding Region Coverage

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	A	G	11: 116,486,514 (GRCm39)	T18A	possibly damaging	Het
Abat	A	T	16: 8,418,783 (GRCm39)	I126F	possibly damaging	Het
Adcy6	G	A	15: 98,492,390 (GRCm39)	A958V	possibly damaging	Het
Ago2	T	C	15: 72,995,239 (GRCm39)	I447V	probably benign	Het
Arid1a	A	G	4: 133,409,155 (GRCm39)	V1784A	unknown	Het
Atp1b1	A	G	1: 164,285,330 (GRCm39)	F33L	probably benign	Het
Bpnt1	G	A	1: 185,086,238 (GRCm39)	V198I	probably benign	Het
Cemip2	T	A	19: 21,801,265 (GRCm39)	I794N	probably damaging	Het
Cfap251	T	C	5: 123,426,761 (GRCm39)	V383A	possibly damaging	Het
Cgas	G	A	9: 78,344,680 (GRCm39)	P247L	probably damaging	Het
Clip3	G	A	7: 29,998,287 (GRCm39)	M244I	probably benign	Het
Clip3	A	T	7: 29,996,494 (GRCm39)		probably benign	Het
Cyp2a22	A	T	7: 26,638,184 (GRCm39)	N107K	possibly damaging	Het
Cyp2c23	A	T	19: 43,993,995 (GRCm39)	L457Q	probably damaging	Het
Dbr1	A	G	9: 99,458,031 (GRCm39)	Y17C	probably damaging	Het
Drc7	G	A	8: 95,785,767 (GRCm39)	V208I	probably benign	Het
Dst	T	A	1: 34,228,470 (GRCm39)	L2021Q	probably damaging	Het
E2f4	C	A	8: 106,027,968 (GRCm39)	P299T	probably damaging	Het
Eef1b2	T	C	1: 63,216,990 (GRCm39)	L53P	probably damaging	Het
Enpp3	T	C	10: 24,674,167 (GRCm39)	T378A	probably damaging	Het
Eps15	A	G	4: 109,223,670 (GRCm39)	N302S	probably benign	Het
Esrrg	G	A	1: 187,943,112 (GRCm39)	V362M	probably benign	Het
Gcc2	T	A	10: 58,116,434 (GRCm39)	N1014K	probably benign	Het
Gm3099	T	A	14: 15,346,476 (GRCm39)	M114K	possibly damaging	Het
Gnptab	C	T	10: 88,271,994 (GRCm39)	T928I	possibly damaging	Het
Gpd2	A	T	2: 57,158,083 (GRCm39)	R31*	probably null	Het
Impdh1	T	C	6: 29,207,165 (GRCm39)	T60A	possibly damaging	Het
Kcnh5	A	G	12: 75,011,943 (GRCm39)	S659P	probably damaging	Het
Kl	T	C	5: 150,904,334 (GRCm39)	I362T	possibly damaging	Het
Kpna4	A	G	3: 68,993,117 (GRCm39)	V414A	probably damaging	Het
Magi1	G	A	6: 93,663,605 (GRCm39)	P1111S	possibly damaging	Het
Myo18a	A	G	11: 77,755,558 (GRCm39)	D1965G	probably benign	Het
Nadsyn1	G	A	7: 143,351,615 (GRCm39)	P673S	probably damaging	Het
Naip2	A	G	13: 100,297,445 (GRCm39)	S864P	probably damaging	Het
Or10ak16	A	G	4: 118,750,658 (GRCm39)	Y126C	probably damaging	Het
Or2d2b	A	T	7: 106,706,029 (GRCm39)	I13N	possibly damaging	Het
Or2f1	G	T	6: 42,721,486 (GRCm39)	V172L	probably benign	Het
Paics	T	A	5: 77,109,357 (GRCm39)		probably benign	Het
Papss1	G	T	3: 131,288,996 (GRCm39)		probably benign	Het
Pax3	A	G	1: 78,173,300 (GRCm39)		probably null	Het
Pgbd5	T	G	8: 125,110,941 (GRCm39)	Q159P	probably benign	Het
Pkd1	A	G	17: 24,800,266 (GRCm39)	Y3009C	probably damaging	Het
Pla2g4d	T	C	2: 120,111,117 (GRCm39)	T161A	probably damaging	Het
Podxl2	T	A	6: 88,820,529 (GRCm39)	Y521F	probably damaging	Het
Pramel34	A	G	5: 93,784,154 (GRCm39)	Y437H	possibly damaging	Het
Prmt2	C	T	10: 76,058,327 (GRCm39)	G161S	probably damaging	Het
Rft1	C	T	14: 30,398,825 (GRCm39)	T265I	probably damaging	Het
Rims2	T	A	15: 39,321,192 (GRCm39)	L736M	probably damaging	Het
Slf1	C	T	13: 77,198,034 (GRCm39)	A747T	probably benign	Het
Snx2	A	G	18: 53,349,519 (GRCm39)	K427E	probably damaging	Het
Tmem131l	A	T	3: 83,845,357 (GRCm39)	D424E	possibly damaging	Het
Tnxb	A	G	17: 34,937,488 (GRCm39)	T3826A	probably damaging	Het
Tpp2	T	C	1: 43,993,813 (GRCm39)	Y233H	probably damaging	Het
Ubl4b	C	A	3: 107,462,147 (GRCm39)	E38*	probably null	Het
Usp5	A	T	6: 124,797,416 (GRCm39)	I486N	probably damaging	Het
Vmn1r193	A	C	13: 22,403,794 (GRCm39)	L66R	probably damaging	Het
Vps13b	T	C	15: 35,792,218 (GRCm39)	I2162T	probably benign	Het
Wipf2	T	C	11: 98,781,650 (GRCm39)	V63A	probably benign	Het
Zfp735	G	T	11: 73,601,305 (GRCm39)	C83F	possibly damaging	Het
Zfyve26	T	C	12: 79,308,348 (GRCm39)		probably null	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
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
R7880:Kcnab3	UTSW	11	69,222,290 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-12-09