Mutagenetix > Incidental Mutation

Incidental Mutation 'R7676:Kcnab3'

592463

Institutional Source

Beutler Lab

Gene Symbol

Kcnab3

Ensembl Gene

ENSMUSG00000018470

Gene Name

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

Synonyms

mKv(beta)4, C330022D06Rik, Kcnab4

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_010599.4; MGI:1336208

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7676 (G1)

Quality Score

153.008

Status

Not validated

Chromosome

Chromosomal Location

69326258-69333042 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69326727 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 16 (S16G)

Ref Sequence

ENSEMBL: ENSMUSP00000018614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018614] [ENSMUST00000060956] [ENSMUST00000092973] [ENSMUST00000102601] [ENSMUST00000102602] [ENSMUST00000108662] [ENSMUST00000123176]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018614
AA Change: S16G

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

SMART Domains

Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470
AA Change: S16G

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: ENSMUST00000092973

SMART Domains

Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782

Domain	Start	End	E-Value	Type
coiled coil region	191	218	N/A	INTRINSIC
coiled coil region	249	557	N/A	INTRINSIC

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

probably benign
Transcript: ENSMUST00000123176

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,294,987	D116G	possibly damaging	Het
Adam6a	G	A	12: 113,544,576	G190S	probably benign	Het
Adnp	G	A	2: 168,183,447	R643*	probably null	Het
Akap6	A	G	12: 52,886,850	D375G	possibly damaging	Het
Aldh1l2	G	T	10: 83,508,111	A480E	probably benign	Het
Ccdc175	T	A	12: 72,102,047	Q779L	possibly damaging	Het
D430042O09Rik	A	G	7: 125,850,377	D897G	probably benign	Het
Dnah7b	T	G	1: 46,234,164	L2484*	probably null	Het
Dnajc21	T	C	15: 10,462,344	Y65C	possibly damaging	Het
Dnhd1	C	A	7: 105,684,087	N255K	probably benign	Het
Efhc1	G	T	1: 20,967,369	G257W	probably damaging	Het
Fars2	C	A	13: 36,205,043	L172I	probably benign	Het
Fat4	T	C	3: 38,891,697	Y1580H	probably damaging	Het
Fli1	T	A	9: 32,428,030	N253Y	probably benign	Het
Foxd3	G	T	4: 99,656,914	C97F	probably damaging	Het
Gem	C	A	4: 11,711,170	D120E	possibly damaging	Het
Ighv10-3	A	G	12: 114,523,679	C41R	probably damaging	Het
Keg1	T	G	19: 12,716,045	V154G	probably benign	Het
Lrrc45	G	A	11: 120,720,322	R602H	probably damaging	Het
Ltbp1	A	G	17: 75,291,297	D591G	possibly damaging	Het
Mmp10	T	A	9: 7,503,549	V140D	probably damaging	Het
Nat8f2	A	T	6: 85,868,212	M56K	probably benign	Het
Nckipsd	T	C	9: 108,814,954	F525L	probably damaging	Het
Olfr1328	A	G	4: 118,934,150	S233P	probably damaging	Het
Olfr1406	T	A	1: 173,183,553	K294*	probably null	Het
Olfr804	G	T	10: 129,705,286	S136I	possibly damaging	Het
P2ry12	T	A	3: 59,217,757	M166L	possibly damaging	Het
Palm3	T	C	8: 84,029,445	S529P	possibly damaging	Het
Pdilt	A	T	7: 119,494,997	Y344N	probably damaging	Het
Pip4k2b	A	T	11: 97,720,362	N309K	probably benign	Het
Pkd1l1	C	T	11: 8,962,708	V166I		Het
Plxdc2	C	T	2: 16,712,083	S377L	probably benign	Het
Rc3h2	A	T	2: 37,405,332	V224E	possibly damaging	Het
Stk32c	T	A	7: 139,105,304	D428V	possibly damaging	Het
Ttn	T	C	2: 76,814,607	D12968G	probably damaging	Het
Tulp2	G	T	7: 45,521,027	V457F	possibly damaging	Het
Vcan	A	T	13: 89,691,789	S1879T	probably damaging	Het
Vmn1r51	T	C	6: 90,129,455	Y118H	probably benign	Het
Zfat	A	C	15: 68,224,844	V40G	possibly damaging	Het

Other mutations in Kcnab3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Kcnab3	APN	11	69331303	missense	probably benign	0.12
IGL01140:Kcnab3	APN	11	69329879	missense	probably benign
IGL01642:Kcnab3	APN	11	69330430	missense	probably benign
IGL02589:Kcnab3	APN	11	69332102	missense	probably benign	0.00
H8786:Kcnab3	UTSW	11	69328267	missense	probably damaging	1.00
R0046:Kcnab3	UTSW	11	69330227	critical splice donor site	probably null
R0046:Kcnab3	UTSW	11	69330227	critical splice donor site	probably null
R2247:Kcnab3	UTSW	11	69330190	missense	probably damaging	0.99
R3771:Kcnab3	UTSW	11	69328563	missense	probably damaging	0.97
R4725:Kcnab3	UTSW	11	69330468	missense	probably benign	0.05
R4927:Kcnab3	UTSW	11	69326746	missense	possibly damaging	0.51
R6237:Kcnab3	UTSW	11	69328575	missense	probably benign	0.24
R7164:Kcnab3	UTSW	11	69331358	critical splice donor site	probably null
R7880:Kcnab3	UTSW	11	69331464	missense	probably damaging	1.00
R8851:Kcnab3	UTSW	11	69328164	critical splice donor site	probably null
R9255:Kcnab3	UTSW	11	69331511	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTAGCTGCAGCCTTCTCAG -3'
(R):5'- TTAGGCGGCTAACCCAGAAAG -3'

Sequencing Primer
(F):5'- GCAGCCTTCTCAGCCTTC -3'
(R):5'- ATATGGATAGGCTGCCCGG -3'

Posted On

2019-11-12