Mutagenetix > Incidental Mutation

Incidental Mutation 'R9563:Scn3b'

721234

Institutional Source

Beutler Lab

Gene Symbol

Scn3b

Ensembl Gene

ENSMUSG00000049281

Gene Name

sodium channel, voltage-gated, type III, beta

Synonyms

4833414B02Rik, 1110001K16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9563 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40180513-40202914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40193729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 152 (D152G)

Ref Sequence

ENSEMBL: ENSMUSP00000051627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049941] [ENSMUST00000114956] [ENSMUST00000171835] [ENSMUST00000176185] [ENSMUST00000216398]

AlphaFold

Q8BHK2

Predicted Effect

probably benign
Transcript: ENSMUST00000049941
AA Change: D152G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000051627
Gene: ENSMUSG00000049281
AA Change: D152G

Domain	Start	End	E-Value	Type
IG	30	140	5.08e-5	SMART
transmembrane domain	153	175	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114956
AA Change: D152G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000110606
Gene: ENSMUSG00000049281
AA Change: D152G

Domain	Start	End	E-Value	Type
IG	30	140	5.08e-5	SMART
transmembrane domain	153	175	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171835
AA Change: D152G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000132933
Gene: ENSMUSG00000049281
AA Change: D152G

Domain	Start	End	E-Value	Type
IG	30	140	5.08e-5	SMART
transmembrane domain	153	175	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176185
AA Change: D112G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000135096
Gene: ENSMUSG00000049281
AA Change: D112G

Domain	Start	End	E-Value	Type
Pfam:ig	1	82	1.1e-5	PFAM
Pfam:V-set	1	102	1.8e-14	PFAM
transmembrane domain	113	135	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000216398

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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 transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a ventricular arrhythmogenic phenotype with abnormal heart electrocardiography waveform features and sodium channel function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,645,009 (GRCm39)	D953E	probably damaging	Het
Acod1	A	C	14: 103,287,109 (GRCm39)	Y80S	probably damaging	Het
Actr5	A	G	2: 158,470,135 (GRCm39)	D255G	probably damaging	Het
Akna	A	G	4: 63,312,944 (GRCm39)	V393A	probably damaging	Het
Amotl1	T	C	9: 14,473,513 (GRCm39)	K562R	possibly damaging	Het
Amz1	T	A	5: 140,738,133 (GRCm39)	D464E	probably damaging	Het
Anapc1	G	A	2: 128,505,980 (GRCm39)	Q619*	probably null	Het
Arfgef3	C	T	10: 18,522,275 (GRCm39)	G584R	probably damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atr	G	C	9: 95,802,833 (GRCm39)	V1832L	probably damaging	Het
Bsn	T	C	9: 107,984,616 (GRCm39)	D374G		Het
Cap1	A	G	4: 122,758,505 (GRCm39)	V225A	probably benign	Het
Cc2d1a	A	G	8: 84,863,758 (GRCm39)	S562P	probably benign	Het
Ccdc30	T	C	4: 119,250,821 (GRCm39)	N141S	possibly damaging	Het
Cdc42bpb	A	G	12: 111,265,762 (GRCm39)	V1390A	possibly damaging	Het
Cdc42ep1	A	T	15: 78,733,782 (GRCm39)	H294L	probably benign	Het
Col6a6	C	A	9: 105,572,952 (GRCm39)	G2185C	probably benign	Het
Col7a1	T	C	9: 108,791,809 (GRCm39)	V1232A	unknown	Het
Copb1	A	G	7: 113,836,034 (GRCm39)	I449T	possibly damaging	Het
Cplane1	T	G	15: 8,216,563 (GRCm39)	L594V	probably benign	Het
Ctdsp2	A	G	10: 126,832,040 (GRCm39)	D216G	probably damaging	Het
Cttnbp2	T	A	6: 18,367,382 (GRCm39)	K1645N	probably benign	Het
Cttnbp2	A	T	6: 18,427,467 (GRCm39)	L738*	probably null	Het
Cul9	T	A	17: 46,820,897 (GRCm39)	T1927S	probably benign	Het
Cyfip2	A	G	11: 46,151,707 (GRCm39)	C531R	probably benign	Het
Cyp2j6	A	G	4: 96,414,245 (GRCm39)	I340T	probably damaging	Het
Daam1	A	G	12: 71,992,251 (GRCm39)	E322G	unknown	Het
Dab2ip	T	A	2: 35,609,915 (GRCm39)	L710*	probably null	Het
Degs1l	G	T	1: 180,882,810 (GRCm39)	V191F	possibly damaging	Het
Dph1	T	C	11: 75,076,825 (GRCm39)	T60A	possibly damaging	Het
Eme1	T	C	11: 94,541,339 (GRCm39)	D161G	probably benign	Het
Epha3	C	T	16: 63,366,510 (GRCm39)	G980D	possibly damaging	Het
Eri3	T	A	4: 117,422,013 (GRCm39)	V136E	probably benign	Het
Espl1	T	A	15: 102,228,233 (GRCm39)	I1669N	possibly damaging	Het
Exoc6	T	C	19: 37,588,071 (GRCm39)	I568T	probably damaging	Het
F3	T	A	3: 121,527,822 (GRCm39)	L85H		Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbxw14	T	C	9: 109,106,335 (GRCm39)	Y234C	probably benign	Het
Fbxw25	T	A	9: 109,483,676 (GRCm39)	N179Y		Het
Foxr1	T	A	9: 44,352,199 (GRCm39)		probably benign	Het
Gas8	T	A	8: 124,263,179 (GRCm39)	V452E	possibly damaging	Het
Gdpd4	T	C	7: 97,649,369 (GRCm39)	V450A	probably damaging	Het
Greb1	T	C	12: 16,774,824 (GRCm39)	Y191C	probably benign	Het
H3c11	T	C	13: 21,967,221 (GRCm39)	D107G	probably damaging	Het
Haus3	G	A	5: 34,325,300 (GRCm39)	R120W	probably benign	Het
Herc1	G	T	9: 66,294,193 (GRCm39)		probably null	Het
Hyal2	T	C	9: 107,447,844 (GRCm39)	W166R	probably damaging	Het
Inka1	T	A	9: 107,861,488 (GRCm39)	Y276F	probably benign	Het
Itga7	C	T	10: 128,789,669 (GRCm39)	A1003V	probably damaging	Het
Itga8	T	A	2: 12,165,219 (GRCm39)	I797F	possibly damaging	Het
Kank2	T	C	9: 21,705,852 (GRCm39)	T389A	possibly damaging	Het
Kcnb2	T	A	1: 15,779,737 (GRCm39)	I203N	probably damaging	Het
Kif21b	T	A	1: 136,077,166 (GRCm39)	L396Q	probably damaging	Het
Kng1	T	G	16: 22,879,170 (GRCm39)	I78S	probably damaging	Het
Ldlrad4	T	C	18: 68,387,551 (GRCm39)	S288P	probably benign	Het
Lmntd2	A	G	7: 140,790,701 (GRCm39)	S516P		Het
Lrp1b	T	A	2: 41,185,711 (GRCm39)	I1449F		Het
Lrrk2	T	A	15: 91,634,043 (GRCm39)	I1380K	possibly damaging	Het
Lvrn	T	G	18: 47,017,506 (GRCm39)	I612S	probably damaging	Het
Lyst	T	C	13: 13,812,408 (GRCm39)	L940P	probably benign	Het
Man2a2	T	A	7: 80,006,101 (GRCm39)	M996L	probably benign	Het
Map3k3	T	A	11: 106,041,860 (GRCm39)	I413N	probably damaging	Het
Map4k5	A	G	12: 69,863,167 (GRCm39)	V629A	probably benign	Het
Mapre2	A	G	18: 24,023,981 (GRCm39)	E325G	unknown	Het
Mbnl1	A	G	3: 60,520,715 (GRCm39)	N101S	probably benign	Het
Meltf	T	A	16: 31,703,869 (GRCm39)	C199S	probably damaging	Het
Mmab	T	C	5: 114,574,850 (GRCm39)	E141G	probably benign	Het
Mtcl2	G	A	2: 156,902,182 (GRCm39)	R278C	probably damaging	Het
Mtus2	T	C	5: 148,250,217 (GRCm39)	L1317P		Het
Muc6	T	A	7: 141,217,783 (GRCm39)	T2297S	possibly damaging	Het
Myom2	A	T	8: 15,158,399 (GRCm39)	K784*	probably null	Het
Nek1	A	G	8: 61,577,157 (GRCm39)	E1118G	probably benign	Het
Nrtn	A	G	17: 57,058,416 (GRCm39)	V195A	probably damaging	Het
Nsd3	G	A	8: 26,204,230 (GRCm39)	V420I		Het
Or52e4	T	C	7: 104,706,281 (GRCm39)	L276P	possibly damaging	Het
Or52z13	A	T	7: 103,247,225 (GRCm39)	Q234L	probably benign	Het
Or5ac23	T	C	16: 59,149,765 (GRCm39)	I36V	probably benign	Het
Or5b99	T	A	19: 12,976,983 (GRCm39)	I211N	probably damaging	Het
Or5t9	A	G	2: 86,659,098 (GRCm39)	M1V	probably null	Het
Or6ae1	G	A	7: 139,742,233 (GRCm39)	T210I	probably damaging	Het
Or6c33	T	C	10: 129,853,287 (GRCm39)	I19T	probably benign	Het
Or8b56	A	T	9: 38,739,014 (GRCm39)	H3L	probably benign	Het
Pde10a	G	T	17: 9,020,710 (GRCm39)	A216S	unknown	Het
Phldb2	T	C	16: 45,645,247 (GRCm39)	T400A	possibly damaging	Het
Pkd1l1	T	A	11: 8,815,502 (GRCm39)	T1920S		Het
Ptgs2	T	A	1: 149,981,419 (GRCm39)	N567K	probably benign	Het
Pwp1	T	A	10: 85,712,370 (GRCm39)	D141E	probably damaging	Het
Rab3ip	T	C	10: 116,754,668 (GRCm39)	E296G	probably null	Het
Rb1cc1	A	G	1: 6,314,339 (GRCm39)	K337R	probably benign	Het
Rbp3	A	G	14: 33,677,477 (GRCm39)	D475G	probably damaging	Het
Ric3	T	C	7: 108,637,997 (GRCm39)	E253G	possibly damaging	Het
Rictor	A	T	15: 6,797,562 (GRCm39)	N306I	possibly damaging	Het
Rnf214	A	T	9: 45,811,141 (GRCm39)	V174E	possibly damaging	Het
Robo3	A	G	9: 37,340,900 (GRCm39)	F124S	probably damaging	Het
Rrad	A	G	8: 105,355,324 (GRCm39)	F228S	probably damaging	Het
Scn3a	A	T	2: 65,291,595 (GRCm39)	M1717K	probably damaging	Het
Scn5a	C	A	9: 119,315,803 (GRCm39)	R1635L	probably damaging	Het
Sec61b	A	G	4: 47,483,049 (GRCm39)	Y93C	probably damaging	Het
Shprh	T	A	10: 11,042,235 (GRCm39)	Y739*	probably null	Het
Skor2	C	T	18: 76,946,376 (GRCm39)	H33Y	unknown	Het
Slc26a7	T	C	4: 14,519,496 (GRCm39)	N508S	probably benign	Het
Slc7a12	A	G	3: 14,564,360 (GRCm39)	I349V	possibly damaging	Het
Slit1	T	C	19: 41,596,874 (GRCm39)	Y1075C	probably damaging	Het
Sltm	C	T	9: 70,480,841 (GRCm39)	A231V	unknown	Het
Smg1	A	G	7: 117,812,208 (GRCm39)	S52P	unknown	Het
Sorl1	A	G	9: 41,957,893 (GRCm39)	Y584H	probably damaging	Het
Spmip2	A	T	3: 79,356,616 (GRCm39)	M140L	probably benign	Het
Ssbp1	T	A	6: 40,454,968 (GRCm39)	S142R	probably benign	Het
Stard3	A	G	11: 98,270,797 (GRCm39)		probably null	Het
Strn3	G	T	12: 51,674,300 (GRCm39)	H531N	possibly damaging	Het
Stx17	A	G	4: 48,180,739 (GRCm39)	T195A	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmed5	A	C	5: 108,280,100 (GRCm39)		probably null	Het
Tmem132a	C	T	19: 10,838,960 (GRCm39)	R494H	probably benign	Het
Tom1	A	G	8: 75,787,177 (GRCm39)	K406E	probably benign	Het
Trav5d-4	A	T	14: 53,239,473 (GRCm39)	N43Y	probably damaging	Het
Trbv19	G	T	6: 41,155,945 (GRCm39)	K105N	possibly damaging	Het
Trim34a	C	T	7: 103,910,328 (GRCm39)	Q377*	probably null	Het
Trp53bp2	T	A	1: 182,276,378 (GRCm39)	N786K	probably benign	Het
Trpc3	A	G	3: 36,705,683 (GRCm39)	M504T	probably benign	Het
Ttc28	A	T	5: 111,371,092 (GRCm39)	M545L	probably benign	Het
Uggt1	A	C	1: 36,204,627 (GRCm39)	V996G	possibly damaging	Het
Vmn2r65	G	A	7: 84,589,880 (GRCm39)	Q679*	probably null	Het
Wdfy4	T	C	14: 32,692,833 (GRCm39)	I2958V		Het
Zbtb37	C	T	1: 160,847,840 (GRCm39)	S389N	possibly damaging	Het
Zfp235	T	C	7: 23,841,669 (GRCm39)	V696A	possibly damaging	Het
Zzef1	T	A	11: 72,765,732 (GRCm39)	C1420S	probably damaging	Het

Other mutations in Scn3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02825:Scn3b	APN	9	40,188,441 (GRCm39)	missense	probably damaging	1.00
IGL02998:Scn3b	APN	9	40,199,713 (GRCm39)	missense	possibly damaging	0.48
IGL03177:Scn3b	APN	9	40,181,338 (GRCm39)	missense	probably benign	0.00
R1482:Scn3b	UTSW	9	40,190,792 (GRCm39)	missense	probably damaging	1.00
R1883:Scn3b	UTSW	9	40,190,669 (GRCm39)	critical splice acceptor site	probably null
R2111:Scn3b	UTSW	9	40,193,741 (GRCm39)	missense	probably benign	0.42
R4601:Scn3b	UTSW	9	40,199,719 (GRCm39)	missense	probably damaging	1.00
R7085:Scn3b	UTSW	9	40,188,394 (GRCm39)	missense	probably damaging	1.00
R7723:Scn3b	UTSW	9	40,199,693 (GRCm39)	nonsense	probably null
R7966:Scn3b	UTSW	9	40,193,846 (GRCm39)	missense	probably benign	0.20
R7993:Scn3b	UTSW	9	40,193,840 (GRCm39)	missense	possibly damaging	0.66
R9402:Scn3b	UTSW	9	40,193,852 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATCTGAGCTATACATAAAACCAGGC -3'
(R):5'- TCTGAGTGCGCTCACATTCTG -3'

Sequencing Primer
(F):5'- TCAACTGCATAATGGCTCACTG -3'
(R):5'- CTCACATTCTGAGTGTGTAAGC -3'

Posted On

2022-08-09