Incidental Mutation 'IGL03177:Scn3b'
ID 412030
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 # IGL03177
Quality Score
Status
Chromosome 9
Chromosomal Location 40180513-40202914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 40181338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 17 (Y17S)
Ref Sequence ENSEMBL: ENSMUSP00000132933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049941] [ENSMUST00000114956] [ENSMUST00000171835] [ENSMUST00000176185]
AlphaFold Q8BHK2
Predicted Effect probably benign
Transcript: ENSMUST00000049941
AA Change: Y17S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000051627
Gene: ENSMUSG00000049281
AA Change: Y17S

DomainStartEndE-ValueType
IG 30 140 5.08e-5 SMART
transmembrane domain 153 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114956
AA Change: Y17S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000110606
Gene: ENSMUSG00000049281
AA Change: Y17S

DomainStartEndE-ValueType
IG 30 140 5.08e-5 SMART
transmembrane domain 153 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171835
AA Change: Y17S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132933
Gene: ENSMUSG00000049281
AA Change: Y17S

DomainStartEndE-ValueType
IG 30 140 5.08e-5 SMART
transmembrane domain 153 175 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175873
Predicted Effect probably benign
Transcript: ENSMUST00000175949
AA Change: Y17S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134820
Gene: ENSMUSG00000049281
AA Change: Y17S

DomainStartEndE-ValueType
IG 30 140 5.08e-5 SMART
transmembrane domain 153 175 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176169
Predicted Effect probably benign
Transcript: ENSMUST00000176185
SMART Domains Protein: ENSMUSP00000135096
Gene: ENSMUSG00000049281

DomainStartEndE-ValueType
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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 T C X: 159,221,259 (GRCm39) I23T possibly damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Anxa7 T C 14: 20,506,654 (GRCm39) I451V probably benign Het
Capn10 T C 1: 92,862,704 (GRCm39) F37L probably benign Het
Cyp4f13 A G 17: 33,165,888 (GRCm39) I30T possibly damaging Het
Ddx27 A G 2: 166,869,840 (GRCm39) N392D possibly damaging Het
Dhx30 T C 9: 109,917,078 (GRCm39) H479R possibly damaging Het
Dnah5 A G 15: 28,295,545 (GRCm39) Y1426C probably damaging Het
Dnajc2 A G 5: 21,980,079 (GRCm39) probably benign Het
Fbxw8 C A 5: 118,267,045 (GRCm39) probably benign Het
Grik5 G A 7: 24,714,879 (GRCm39) T705I probably damaging Het
H2ac4 T A 13: 23,935,509 (GRCm39) probably benign Het
H2-M3 G T 17: 37,581,207 (GRCm39) V19F possibly damaging Het
Hapln2 C A 3: 87,930,078 (GRCm39) C266F probably damaging Het
Hspbp1 A T 7: 4,667,700 (GRCm39) probably null Het
Jak3 T A 8: 72,135,014 (GRCm39) V549D probably damaging Het
Mark1 A G 1: 184,677,104 (GRCm39) S49P probably damaging Het
Mdfic T C 6: 15,770,450 (GRCm39) V152A probably damaging Het
Mgat4a C A 1: 37,483,968 (GRCm39) V501L probably damaging Het
Mlxip C A 5: 123,584,044 (GRCm39) P536T possibly damaging Het
Mrpl2 A T 17: 46,959,963 (GRCm39) T213S probably damaging Het
Nos1ap C A 1: 170,218,299 (GRCm39) probably null Het
Or4a74 C T 2: 89,439,826 (GRCm39) V207I probably benign Het
Or6c1b T C 10: 129,272,684 (GRCm39) M1T probably null Het
Or8b50 T A 9: 38,517,867 (GRCm39) Y35* probably null Het
P2rx2 T C 5: 110,489,479 (GRCm39) I251V probably damaging Het
Parva T A 7: 112,172,140 (GRCm39) probably benign Het
Phf10 G A 17: 15,166,493 (GRCm39) T459I probably damaging Het
Prg4 T A 1: 150,331,354 (GRCm39) probably benign Het
Pum3 A T 19: 27,367,612 (GRCm39) I639N probably benign Het
Rlf T A 4: 121,005,276 (GRCm39) K1235* probably null Het
Ryr3 T A 2: 112,859,016 (GRCm39) I46F probably benign Het
Sall3 A G 18: 81,016,183 (GRCm39) S582P probably benign Het
Senp8 A G 9: 59,644,611 (GRCm39) C169R probably damaging Het
Sgsm1 C T 5: 113,398,859 (GRCm39) A1025T probably damaging Het
Six1 T C 12: 73,090,514 (GRCm39) E217G possibly damaging Het
Slc38a8 T C 8: 120,212,251 (GRCm39) D364G probably damaging Het
Stk10 A T 11: 32,564,592 (GRCm39) E801V probably damaging Het
Ston2 A T 12: 91,614,431 (GRCm39) I659N probably damaging Het
Stxbp4 T C 11: 90,462,579 (GRCm39) Q331R probably benign Het
Synpo2 A T 3: 122,914,864 (GRCm39) V54E probably damaging Het
Tax1bp1 A G 6: 52,713,932 (GRCm39) D237G possibly damaging Het
Tmigd1 T C 11: 76,797,774 (GRCm39) Y39H probably benign Het
Vmn1r15 A G 6: 57,235,458 (GRCm39) T109A probably benign Het
Vmn1r209 T C 13: 22,990,024 (GRCm39) Y222C possibly damaging Het
Zfp809 A G 9: 22,146,347 (GRCm39) D12G probably damaging Het
Other mutations in Scn3b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2016-08-02