Mutagenetix > Incidental Mutation

Incidental Mutation 'R9731:Scn1b'

731388

Institutional Source

Beutler Lab

Gene Symbol

Scn1b

Ensembl Gene

ENSMUSG00000019194

Gene Name

sodium channel, voltage-gated, type I, beta

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R9731 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30815949-30826428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30824596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 31 (V31M)

Ref Sequence

ENSEMBL: ENSMUSP00000096148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001280] [ENSMUST00000085636] [ENSMUST00000098548] [ENSMUST00000186634] [ENSMUST00000211945]

AlphaFold

P97952

Predicted Effect

probably benign
Transcript: ENSMUST00000001280

SMART Domains

Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248

Domain	Start	End	E-Value	Type
low complexity region	8	39	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
GRAM	93	160	2.54e-29	SMART
low complexity region	342	360	N/A	INTRINSIC
Pfam:DUF4782	372	520	7.3e-37	PFAM
low complexity region	531	542	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC
transmembrane domain	606	628	N/A	INTRINSIC
low complexity region	707	719	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085636

SMART Domains

Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248

Domain	Start	End	E-Value	Type
low complexity region	8	39	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
GRAM	93	160	2.54e-29	SMART
low complexity region	342	360	N/A	INTRINSIC
Pfam:DUF4782	372	500	1.1e-28	PFAM
low complexity region	514	528	N/A	INTRINSIC
transmembrane domain	572	594	N/A	INTRINSIC
low complexity region	673	685	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098548
AA Change: V31M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096148
Gene: ENSMUSG00000019194
AA Change: V31M

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 benign
Transcript: ENSMUST00000186634

SMART Domains

Protein: ENSMUSP00000140195
Gene: ENSMUSG00000001248

Domain	Start	End	E-Value	Type
low complexity region	8	39	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
GRAM	93	160	8.9e-32	SMART
low complexity region	342	360	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000211945
AA Change: V31M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000220635

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	G	4: 109,362,918 (GRCm39)	S134R	probably damaging	Het
A930033H14Rik	T	A	10: 69,048,679 (GRCm39)	R53W	unknown	Het
Abca9	G	T	11: 110,025,024 (GRCm39)	D1006E	probably benign	Het
Abcc6	T	A	7: 45,669,660 (GRCm39)	R132*	probably null	Het
Ankrd40	C	T	11: 94,229,250 (GRCm39)	T283I	probably damaging	Het
Atr	A	G	9: 95,747,092 (GRCm39)	K125E	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cep290	A	T	10: 100,346,404 (GRCm39)	L527F	probably damaging	Het
Cep295	T	C	9: 15,245,262 (GRCm39)	N1065D	possibly damaging	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Ddx54	C	T	5: 120,758,807 (GRCm39)	A350V	probably benign	Het
Defb23	C	T	2: 152,301,333 (GRCm39)	V80I	probably benign	Het
Dennd5b	G	A	6: 148,970,138 (GRCm39)	T127I	probably damaging	Het
Dnah6	G	T	6: 73,168,589 (GRCm39)	Q445K	probably benign	Het
Dync2h1	T	C	9: 7,141,166 (GRCm39)	H1287R	probably benign	Het
Enpp7	G	A	11: 118,879,151 (GRCm39)	G37R	probably damaging	Het
Exoc2	T	C	13: 31,061,233 (GRCm39)	T554A	probably benign	Het
Fgf8	T	C	19: 45,730,846 (GRCm39)	N60D	probably benign	Het
Gdi2	A	G	13: 3,588,299 (GRCm39)	M1V	probably null	Het
Glra3	G	T	8: 56,542,058 (GRCm39)	R267L	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Greb1	C	T	12: 16,738,598 (GRCm39)	R1455H	probably damaging	Het
Grk6	C	A	13: 55,607,640 (GRCm39)	P575T	possibly damaging	Het
Hpgd	A	T	8: 56,751,391 (GRCm39)	D73V	probably benign	Het
Hpse	G	A	5: 100,842,022 (GRCm39)	H288Y	probably damaging	Het
Hpse2	G	A	19: 42,794,826 (GRCm39)	R506*	probably null	Het
Ing1	C	A	8: 11,611,649 (GRCm39)	T123N	probably benign	Het
Kdm2b	T	C	5: 123,125,823 (GRCm39)	D27G	probably benign	Het
Kmt2c	A	T	5: 25,577,956 (GRCm39)	D773E	probably benign	Het
Lrrc7	T	C	3: 157,880,888 (GRCm39)	D516G	probably benign	Het
Lrsam1	A	G	2: 32,835,452 (GRCm39)		probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Meak7	C	A	8: 120,498,010 (GRCm39)	A165S	probably benign	Het
Ndufaf3	T	C	9: 108,443,158 (GRCm39)	*186W	probably null	Het
Ndufaf5	C	T	2: 140,012,807 (GRCm39)	A59V	possibly damaging	Het
Nphp3	T	C	9: 103,886,369 (GRCm39)	L281S	probably damaging	Het
Or10a4	T	G	7: 106,696,786 (GRCm39)	V38G	probably benign	Het
Or4c12	T	A	2: 89,774,316 (GRCm39)	I48F	possibly damaging	Het
Or8b37	A	T	9: 37,958,892 (GRCm39)	I125F	probably damaging	Het
Otogl	G	T	10: 107,735,328 (GRCm39)	T152K	probably damaging	Het
Oxgr1	C	T	14: 120,260,094 (GRCm39)	V38I	probably benign	Het
Polr2a	G	A	11: 69,638,043 (GRCm39)	T142M	possibly damaging	Het
Pou6f1	C	T	15: 100,476,206 (GRCm39)	R560Q	possibly damaging	Het
Ptgr3	T	G	18: 84,113,128 (GRCm39)	V268G	probably damaging	Het
Rbm33	A	G	5: 28,544,242 (GRCm39)	E166G	probably damaging	Het
Rgs14	T	A	13: 55,528,784 (GRCm39)	Y308*	probably null	Het
Rpl10a	T	C	17: 28,547,594 (GRCm39)		probably benign	Het
Rras2	A	C	7: 113,659,593 (GRCm39)	I57S	probably damaging	Het
Sema6d	G	A	2: 124,506,117 (GRCm39)	A642T	probably damaging	Het
Sis	T	A	3: 72,835,543 (GRCm39)	T940S	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc22a27	G	A	19: 7,904,126 (GRCm39)	Q4*	probably null	Het
Slc44a2	T	A	9: 21,263,770 (GRCm39)	I646N	possibly damaging	Het
Sprtn	C	A	8: 125,629,704 (GRCm39)	Y332*	probably null	Het
Srpk1	A	G	17: 28,825,297 (GRCm39)	I125T	probably damaging	Het
Sv2b	G	A	7: 74,786,068 (GRCm39)	H451Y	probably benign	Het
Tec	G	A	5: 72,939,439 (GRCm39)	T192M	probably benign	Het
Tlr3	G	A	8: 45,850,944 (GRCm39)	T127M	probably damaging	Het
Trim25	C	A	11: 88,906,391 (GRCm39)	P405T	probably benign	Het
Trpm4	T	C	7: 44,958,054 (GRCm39)	D952G	probably damaging	Het
Tsc1	A	G	2: 28,566,486 (GRCm39)	D635G	probably benign	Het
Ttc7b	T	C	12: 100,461,683 (GRCm39)	E98G	possibly damaging	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Usp19	T	A	9: 108,376,885 (GRCm39)	S1153T	probably damaging	Het
Vmn2r63	A	T	7: 42,553,361 (GRCm39)	L632M	probably benign	Het
Vps13c	C	T	9: 67,826,526 (GRCm39)	T1389I	probably benign	Het
Wasf1	T	A	10: 40,806,731 (GRCm39)	Y125N	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
R4644:Scn1b	UTSW	7	30,817,212 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- AACCCTGAGACCCAGTGCTG -3'
(R):5'- TCCACCTAACAGGCTAGGGG -3'

Sequencing Primer
(F):5'- AGTGCTGCTGGCTCCAC -3'
(R):5'- GTGACTCGTCAAGGTCACACAG -3'

Posted On

2022-11-14