Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02825:Scn3b'

361166

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02825

Quality Score

Status

Chromosome

Chromosomal Location

40180513-40202914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40188441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 5 (C5R)

Ref Sequence

ENSEMBL: ENSMUSP00000135096 (fasta)

Gene Model

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

AlphaFold

Q8BHK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000049941
AA Change: C45R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051627
Gene: ENSMUSG00000049281
AA Change: C45R

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: C45R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110606
Gene: ENSMUSG00000049281
AA Change: C45R

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: ENSMUST00000171835
AA Change: C45R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132933
Gene: ENSMUSG00000049281
AA Change: C45R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175873

Predicted Effect

probably damaging
Transcript: ENSMUST00000175949
AA Change: C45R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134820
Gene: ENSMUSG00000049281
AA Change: C45R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176169

Predicted Effect

probably damaging
Transcript: ENSMUST00000176185
AA Change: C5R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135096
Gene: ENSMUSG00000049281
AA Change: C5R

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

noncoding transcript
Transcript: ENSMUST00000176634

Predicted Effect

probably benign
Transcript: ENSMUST00000176547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215330

Coding Region Coverage

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abo	A	G	2: 26,733,710 (GRCm39)	V163A	possibly damaging	Het
Ap1b1	G	T	11: 4,983,738 (GRCm39)	A664S	possibly damaging	Het
B3gnt4	T	C	5: 123,649,114 (GRCm39)	F160L	possibly damaging	Het
Brd3	T	C	2: 27,339,275 (GRCm39)	E685G	probably damaging	Het
Cacna2d2	C	T	9: 107,401,659 (GRCm39)	R746C	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Chl1	T	A	6: 103,645,764 (GRCm39)	V268E	possibly damaging	Het
Cpb1	T	A	3: 20,303,889 (GRCm39)	I392F	probably damaging	Het
Dnai1	T	C	4: 41,625,101 (GRCm39)		probably benign	Het
Dync2h1	T	C	9: 6,955,901 (GRCm39)		probably benign	Het
Edc4	T	C	8: 106,617,243 (GRCm39)	S1021P	probably damaging	Het
Exoc7	A	C	11: 116,188,411 (GRCm39)	L296R	probably damaging	Het
Fgd5	A	G	6: 92,015,068 (GRCm39)		probably null	Het
Gm28042	T	A	2: 119,862,125 (GRCm39)	M232K	probably damaging	Het
Ints1	A	T	5: 139,750,494 (GRCm39)	S888T	probably benign	Het
Kirrel1	A	T	3: 86,996,595 (GRCm39)		probably benign	Het
Lrp1	C	T	10: 127,378,474 (GRCm39)	R4037Q	probably damaging	Het
Lrrc37	G	A	11: 103,507,894 (GRCm39)		probably benign	Het
Lrrn3	A	T	12: 41,502,592 (GRCm39)	V575D	probably damaging	Het
Mapk11	A	G	15: 89,030,585 (GRCm39)	Y103H	probably damaging	Het
Mrpl19	G	T	6: 81,942,796 (GRCm39)	T38K	probably benign	Het
Nefl	A	T	14: 68,321,795 (GRCm39)	K128N	possibly damaging	Het
Olfm1	A	G	2: 28,119,090 (GRCm39)	N242D	probably damaging	Het
Oprd1	T	A	4: 131,844,670 (GRCm39)	T113S	probably damaging	Het
Or10d1	A	T	9: 39,483,877 (GRCm39)	I226N	probably damaging	Het
Or52s19	T	C	7: 103,007,568 (GRCm39)	I278V	probably benign	Het
Pds5b	C	T	5: 150,652,435 (GRCm39)	T234I	possibly damaging	Het
Prpf3	A	T	3: 95,760,792 (GRCm39)	C37S	probably damaging	Het
Rpgrip1l	G	A	8: 92,031,433 (GRCm39)	T148M	possibly damaging	Het
Rph3a	T	C	5: 121,083,509 (GRCm39)	K587R	possibly damaging	Het
Sirpa	C	T	2: 129,457,372 (GRCm39)	P149S	probably damaging	Het
Slco1a1	A	T	6: 141,864,343 (GRCm39)	C486S	probably damaging	Het
Spin1	C	A	13: 51,277,332 (GRCm39)		probably benign	Het
Stom	C	A	2: 35,211,644 (GRCm39)	V126F	probably damaging	Het
Tom1	A	G	8: 75,783,883 (GRCm39)	D64G	probably damaging	Het
Trbv4	T	A	6: 41,036,613 (GRCm39)	L46Q	probably damaging	Het
Trhr	A	T	15: 44,092,921 (GRCm39)	D386V	possibly damaging	Het
Vmn2r101	T	A	17: 19,810,132 (GRCm39)	I306N	probably benign	Het
Vmn2r51	C	T	7: 9,832,046 (GRCm39)		probably benign	Het
Vmn2r63	A	G	7: 42,576,274 (GRCm39)		probably null	Het
Zfp277	T	C	12: 40,367,175 (GRCm39)	K494E	probably benign	Het
Zranb3	A	T	1: 127,887,489 (GRCm39)	S979R	probably benign	Het

Other mutations in Scn3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9563:Scn3b	UTSW	9	40,193,729 (GRCm39)	missense	probably benign	0.01

Posted On

2015-12-18