Mutagenetix > Incidental Mutation

Incidental Mutation 'R4644:Scn1b'

351772

Institutional Source

Beutler Lab

Gene Symbol

Scn1b

Ensembl Gene

ENSMUSG00000019194

Gene Name

sodium channel, voltage-gated, type I, beta

Synonyms

MMRRC Submission

041905-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R4644 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30815949-30826428 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 30817212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 170 (L170*)

Ref Sequence

ENSEMBL: ENSMUSP00000148295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098548] [ENSMUST00000108102] [ENSMUST00000165124] [ENSMUST00000168884] [ENSMUST00000211945]

AlphaFold

P97952

Predicted Effect

probably null
Transcript: ENSMUST00000098548
AA Change: L170*

SMART Domains

Protein: ENSMUSP00000096148
Gene: ENSMUSG00000019194
AA Change: L170*

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:V-set	23	147	7.7e-17	PFAM
transmembrane domain	154	176	N/A	INTRINSIC
low complexity region	186	199	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108102

SMART Domains

Protein: ENSMUSP00000103737
Gene: ENSMUSG00000001249

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
SR	73	170	8.44e-5	SMART
Tryp_SPc	181	419	3.09e-98	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165124

Predicted Effect

probably null
Transcript: ENSMUST00000168884

SMART Domains

Protein: ENSMUSP00000131658
Gene: ENSMUSG00000001249

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
SR	53	150	8.44e-5	SMART
Tryp_SPc	161	399	3.09e-98	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000187469
AA Change: L223*

Predicted Effect

probably null
Transcript: ENSMUST00000188002
AA Change: L170*

SMART Domains

Protein: ENSMUSP00000139680
Gene: ENSMUSG00000019194
AA Change: L170*

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:V-set	22	139	5.6e-9	PFAM
Pfam:ig	33	123	7e-18	PFAM
transmembrane domain	154	176	N/A	INTRINSIC
low complexity region	186	199	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211923

Predicted Effect

probably null
Transcript: ENSMUST00000211945
AA Change: L170*

Meta Mutation Damage Score

0.9751

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (44/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous inactivation of this locus results in defects in neuronal excitability, and nodal architecture. Homozygous null mice are growth retarded, exhibit spontaneous generalized seizuress, and die prior to weaning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	G	1: 165,378,930 (GRCm39)		probably null	Het
Ano5	C	A	7: 51,237,433 (GRCm39)	Y702*	probably null	Het
Bsph2	A	T	7: 13,304,942 (GRCm39)	V11E	possibly damaging	Het
Camk1g	T	A	1: 193,038,667 (GRCm39)	D85V	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cflar	T	A	1: 58,770,426 (GRCm39)	I173N	probably damaging	Het
Dgkd	T	C	1: 87,864,016 (GRCm39)	V904A	probably damaging	Het
Dnajc21	T	C	15: 10,464,003 (GRCm39)	D54G	possibly damaging	Het
Doc2a	C	A	7: 126,450,618 (GRCm39)	T298K	probably benign	Het
Dsg1a	A	T	18: 20,473,785 (GRCm39)	I953L	probably benign	Het
Fga	C	A	3: 82,937,573 (GRCm39)	A150E	possibly damaging	Het
Frem3	T	A	8: 81,340,356 (GRCm39)	M883K	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Klhdc4	G	C	8: 122,548,739 (GRCm39)		probably benign	Het
Mgst1	T	C	6: 138,133,368 (GRCm39)	Y50H	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nsmaf	A	G	4: 6,419,940 (GRCm39)		probably benign	Het
Pp2d1	T	C	17: 53,823,015 (GRCm39)	K17R	probably benign	Het
Prss39	C	T	1: 34,541,207 (GRCm39)	T237M	probably damaging	Het
Ptpra	T	C	2: 130,386,078 (GRCm39)	I595T	probably damaging	Het
Ptpre	C	T	7: 135,253,661 (GRCm39)		probably benign	Het
Rictor	C	A	15: 6,807,416 (GRCm39)	C728*	probably null	Het
Scn11a	C	T	9: 119,644,269 (GRCm39)		probably null	Het
Semp2l2b	A	G	10: 21,942,660 (GRCm39)	V440A	probably benign	Het
Slc35f3	A	G	8: 127,047,809 (GRCm39)	R50G	possibly damaging	Het
Sorcs3	G	A	19: 48,672,036 (GRCm39)	V412M	probably damaging	Het
Spg11	C	T	2: 121,891,510 (GRCm39)	V1954I	probably benign	Het
Srcap	C	T	7: 127,151,770 (GRCm39)	R2049C	probably damaging	Het
Ssh2	T	C	11: 77,340,402 (GRCm39)	V518A	possibly damaging	Het
Stab1	G	A	14: 30,862,444 (GRCm39)		probably benign	Het
Tenm2	A	G	11: 35,937,963 (GRCm39)	F1570S	probably benign	Het
Tpr	T	A	1: 150,299,250 (GRCm39)	V1076E	probably benign	Het
Ttn	A	T	2: 76,562,757 (GRCm39)	Y26986*	probably null	Het
Unc45a	C	T	7: 79,978,257 (GRCm39)	A673T	probably damaging	Het
Utp25	A	G	1: 192,810,788 (GRCm39)	Y72H	probably damaging	Het

Other mutations in Scn1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02177:Scn1b	APN	7	30,816,655 (GRCm39)	makesense	probably null
IGL02573:Scn1b	APN	7	30,822,546 (GRCm39)	missense	possibly damaging	0.88
IGL02873:Scn1b	APN	7	30,817,182 (GRCm39)	missense	probably damaging	0.99
R5912:Scn1b	UTSW	7	30,817,228 (GRCm39)	missense	probably damaging	1.00
R9322:Scn1b	UTSW	7	30,824,517 (GRCm39)	missense	probably damaging	1.00
R9731:Scn1b	UTSW	7	30,824,596 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGAGCAACTACACTATTTGCCTC -3'
(R):5'- CTGTAATACCTCTAGAAACCAACATGG -3'

Sequencing Primer
(F):5'- ACTATTTGCCTCTGACACAGATAC -3'
(R):5'- CTCAGAGAGGTTGAACCACTTGC -3'

Posted On

2015-10-08