Mutagenetix > Incidental Mutation

Incidental Mutation 'R4601:Scn3b'

345634

Institutional Source

Beutler Lab

Gene Symbol

Scn3b

Ensembl Gene

ENSMUSG00000049281

Gene Name

sodium channel, voltage-gated, type III, beta

Synonyms

4833414B02Rik, 1110001K16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40180513-40202914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 40199719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 212 (P212T)

Ref Sequence

ENSEMBL: ENSMUSP00000132933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045682] [ENSMUST00000049941] [ENSMUST00000114956] [ENSMUST00000119373] [ENSMUST00000121357] [ENSMUST00000165104] [ENSMUST00000176185] [ENSMUST00000171835] [ENSMUST00000216398] [ENSMUST00000216821]

AlphaFold

Q8BHK2

Predicted Effect

probably benign
Transcript: ENSMUST00000045682

SMART Domains

Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111

Domain	Start	End	E-Value	Type
low complexity region	31	49	N/A	INTRINSIC
low complexity region	104	117	N/A	INTRINSIC
low complexity region	123	141	N/A	INTRINSIC
low complexity region	203	226	N/A	INTRINSIC
GRAM	240	307	1.54e-28	SMART
low complexity region	375	385	N/A	INTRINSIC
Pfam:DUF4782	519	667	1.6e-38	PFAM
low complexity region	696	710	N/A	INTRINSIC
transmembrane domain	768	790	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000049941
AA Change: P212T

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

SMART Domains

Protein: ENSMUSP00000051627
Gene: ENSMUSG00000049281
AA Change: P212T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114956
AA Change: P212T

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

SMART Domains

Protein: ENSMUSP00000110606
Gene: ENSMUSG00000049281
AA Change: P212T

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: ENSMUST00000119373

SMART Domains

Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111

Domain	Start	End	E-Value	Type
low complexity region	9	24	N/A	INTRINSIC
low complexity region	86	101	N/A	INTRINSIC
GRAM	126	193	1.54e-28	SMART
low complexity region	261	271	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
transmembrane domain	654	676	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121357

SMART Domains

Protein: ENSMUSP00000112564
Gene: ENSMUSG00000040111

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	55	78	N/A	INTRINSIC
GRAM	92	159	1.54e-28	SMART
low complexity region	227	237	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC
transmembrane domain	620	642	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137454

SMART Domains

Protein: ENSMUSP00000116871
Gene: ENSMUSG00000040111

Domain	Start	End	E-Value	Type
Pfam:DUF4782	130	278	2.3e-39	PFAM
low complexity region	307	321	N/A	INTRINSIC
transmembrane domain	379	401	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165104

SMART Domains

Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111

Domain	Start	End	E-Value	Type
low complexity region	31	49	N/A	INTRINSIC
low complexity region	104	117	N/A	INTRINSIC
low complexity region	123	141	N/A	INTRINSIC
low complexity region	203	226	N/A	INTRINSIC
GRAM	240	307	1.54e-28	SMART
low complexity region	375	385	N/A	INTRINSIC
low complexity region	696	710	N/A	INTRINSIC
transmembrane domain	768	790	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000176547
AA Change: P116T

Predicted Effect

probably damaging
Transcript: ENSMUST00000176185
AA Change: P172T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135096
Gene: ENSMUSG00000049281
AA Change: P172T

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 damaging
Transcript: ENSMUST00000171835
AA Change: P212T

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

SMART Domains

Protein: ENSMUSP00000132933
Gene: ENSMUSG00000049281
AA Change: P212T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216398
AA Change: P54T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000216821

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.5%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Abca16	T	G	7: 120,035,920 (GRCm39)	F334L	probably damaging	Het
Abcc4	T	A	14: 118,869,575 (GRCm39)	M186L	probably benign	Het
Agap3	T	C	5: 24,681,406 (GRCm39)	L120P	probably damaging	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aldh1a7	A	T	19: 20,693,343 (GRCm39)	V192D	probably damaging	Het
Ankrd36	A	G	11: 5,520,102 (GRCm39)	D59G	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Cacna1e	A	G	1: 154,347,359 (GRCm39)	V936A	probably benign	Het
Camkv	T	C	9: 107,823,295 (GRCm39)	V107A	probably damaging	Het
Camp	T	C	9: 109,677,730 (GRCm39)	E80G	probably damaging	Het
Cblif	A	C	19: 11,729,554 (GRCm39)	D171A	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd101	G	A	3: 100,901,204 (GRCm39)	T960M	possibly damaging	Het
Cdk18	A	G	1: 132,044,657 (GRCm39)	V323A	possibly damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cemip	T	C	7: 83,600,826 (GRCm39)	I932V	probably damaging	Het
Cep250	C	A	2: 155,803,973 (GRCm39)	Q28K	probably benign	Het
Ces2f	T	C	8: 105,676,596 (GRCm39)	C97R	probably damaging	Het
Cfap126	G	T	1: 170,941,627 (GRCm39)	G41C	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Chat	T	C	14: 32,146,112 (GRCm39)	M354V	probably benign	Het
Clca4b	A	T	3: 144,632,945 (GRCm39)	D168E	possibly damaging	Het
Cpxm1	T	A	2: 130,235,496 (GRCm39)	M499L	possibly damaging	Het
Dennd3	T	A	15: 73,439,009 (GRCm39)	W1126R	probably damaging	Het
Dgkb	T	C	12: 38,652,819 (GRCm39)	S735P	probably damaging	Het
Dlec1	T	C	9: 118,976,202 (GRCm39)		probably null	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Dph5	A	G	3: 115,693,426 (GRCm39)	N115D	possibly damaging	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Erich3	A	T	3: 154,470,375 (GRCm39)	D136V	unknown	Het
Exoc2	T	C	13: 31,066,251 (GRCm39)	N475S	probably benign	Het
Fam217a	T	C	13: 35,095,285 (GRCm39)	D310G	probably damaging	Het
Fam53a	C	T	5: 33,758,007 (GRCm39)	S372N	probably benign	Het
Fbn2	C	G	18: 58,186,805 (GRCm39)	G1699R	probably damaging	Het
Fbxo46	T	C	7: 18,869,489 (GRCm39)	V36A	probably benign	Het
Fhip1a	T	C	3: 85,648,487 (GRCm39)	M26V	probably damaging	Het
G6pc1	A	G	11: 101,263,567 (GRCm39)	Y127C	probably damaging	Het
Gba2	A	G	4: 43,573,810 (GRCm39)	F161L	probably damaging	Het
Gja1	T	C	10: 56,264,325 (GRCm39)	L228P	probably damaging	Het
Gm20834	A	G	Y: 10,323,178 (GRCm39)	V86A	probably benign	Het
Hmcn1	A	T	1: 150,614,396 (GRCm39)	C1337S	probably damaging	Het
Il1rl1	T	A	1: 40,480,460 (GRCm39)	S30T	possibly damaging	Het
Itgb4	A	G	11: 115,896,548 (GRCm39)	T1436A	probably damaging	Het
Itk	T	A	11: 46,227,342 (GRCm39)	Q427L	probably benign	Het
Klhdc4	T	C	8: 122,526,266 (GRCm39)	E291G	probably damaging	Het
Map4	T	A	9: 109,881,887 (GRCm39)	S250R	possibly damaging	Het
Mnt	T	A	11: 74,727,285 (GRCm39)	V57E	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtcl2	T	C	2: 156,881,844 (GRCm39)	K736R	probably benign	Het
Musk	A	T	4: 58,301,625 (GRCm39)	I128F	probably damaging	Het
Myh4	G	A	11: 67,141,136 (GRCm39)	A733T	possibly damaging	Het
Myo5a	T	A	9: 75,043,670 (GRCm39)	F220I	probably damaging	Het
Npas3	A	G	12: 54,091,361 (GRCm39)	H305R	probably damaging	Het
Nrcam	A	T	12: 44,637,839 (GRCm39)	Y1132F	probably damaging	Het
Nt5c3b	A	C	11: 100,323,744 (GRCm39)	D189E	probably benign	Het
Nuf2	A	G	1: 169,333,683 (GRCm39)	L331P	probably damaging	Het
Nup214	C	T	2: 31,887,977 (GRCm39)	T646I	probably benign	Het
Or14j9	T	C	17: 37,875,076 (GRCm39)	N42S	probably damaging	Het
Pcdh18	T	C	3: 49,699,174 (GRCm39)	E1096G	probably damaging	Het
Pgm2	T	A	5: 64,265,070 (GRCm39)	F364I	probably benign	Het
Pikfyve	A	G	1: 65,273,421 (GRCm39)	N612S	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Prkd2	G	T	7: 16,577,573 (GRCm39)		probably benign	Het
Rnf133	T	C	6: 23,649,041 (GRCm39)	E296G	possibly damaging	Het
Sav1	A	T	12: 70,031,095 (GRCm39)	D142E	probably benign	Het
Sel1l	A	T	12: 91,799,827 (GRCm39)		probably null	Het
Septin9	A	G	11: 117,251,310 (GRCm39)	K543E	probably damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Snrpa	A	G	7: 26,894,958 (GRCm39)	M1T	probably null	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Stradb	G	A	1: 59,032,731 (GRCm39)	S361N	probably damaging	Het
Sult3a2	T	C	10: 33,658,083 (GRCm39)	K10R	probably benign	Het
Susd4	A	G	1: 182,686,025 (GRCm39)	N192D	probably damaging	Het
Tcp10a	T	A	17: 7,593,374 (GRCm39)	D32E	probably benign	Het
Tdpoz4	T	A	3: 93,704,339 (GRCm39)	V212D	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tex55	A	G	16: 38,648,380 (GRCm39)	V243A	probably benign	Het
Traj37	T	C	14: 54,418,996 (GRCm39)		probably benign	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Vmn2r115	T	A	17: 23,565,373 (GRCm39)	L420Q	probably benign	Het
Wdr24	T	A	17: 26,047,181 (GRCm39)		probably null	Het
Wdr81	T	A	11: 75,336,484 (GRCm39)	Q516L	probably damaging	Het
Zfp516	A	G	18: 82,974,164 (GRCm39)	T121A	probably benign	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo

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
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
R9563:Scn3b	UTSW	9	40,193,729 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTCAGATATTGCTGCTGGG -3'
(R):5'- ATAGAGAGCATTGTGATGTGACC -3'

Sequencing Primer
(F):5'- GGGATATTACTCTATTTGCTGAAGC -3'
(R):5'- TGTGACCATTAACGTAGAGTACCCG -3'

Posted On

2015-09-25