Incidental Mutation 'IGL03177:Scn3b'
ID412030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scn3b
Ensembl Gene ENSMUSG00000049281
Gene Namesodium channel, voltage-gated, type III, beta
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03177
Quality Score
Status
Chromosome9
Chromosomal Location40269217-40291618 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 40270042 bp
ZygosityHeterozygous
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]
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: 160,438,263 I23T possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anxa7 T C 14: 20,456,586 I451V probably benign Het
Capn10 T C 1: 92,934,982 F37L probably benign Het
Cyp4f13 A G 17: 32,946,914 I30T possibly damaging Het
Ddx27 A G 2: 167,027,920 N392D possibly damaging Het
Dhx30 T C 9: 110,088,010 H479R possibly damaging Het
Dnah5 A G 15: 28,295,399 Y1426C probably damaging Het
Dnajc2 A G 5: 21,775,081 probably benign Het
Fbxw8 C A 5: 118,128,980 probably benign Het
Grik5 G A 7: 25,015,454 T705I probably damaging Het
H2-M3 G T 17: 37,270,316 V19F possibly damaging Het
Hapln2 C A 3: 88,022,771 C266F probably damaging Het
Hist1h2ab T A 13: 23,751,526 probably benign Het
Hspbp1 A T 7: 4,664,701 probably null Het
Jak3 T A 8: 71,682,370 V549D probably damaging Het
Mark1 A G 1: 184,944,907 S49P probably damaging Het
Mdfic T C 6: 15,770,451 V152A probably damaging Het
Mgat4a C A 1: 37,444,887 V501L probably damaging Het
Mlxip C A 5: 123,445,981 P536T possibly damaging Het
Mrpl2 A T 17: 46,649,037 T213S probably damaging Het
Nos1ap C A 1: 170,390,730 probably null Het
Olfr1247 C T 2: 89,609,482 V207I probably benign Het
Olfr786 T C 10: 129,436,815 M1T probably null Het
Olfr914 T A 9: 38,606,571 Y35* probably null Het
P2rx2 T C 5: 110,341,613 I251V probably damaging Het
Parva T A 7: 112,572,933 probably benign Het
Phf10 G A 17: 14,946,231 T459I probably damaging Het
Prg4 T A 1: 150,455,603 probably benign Het
Pum3 A T 19: 27,390,212 I639N probably benign Het
Rlf T A 4: 121,148,079 K1235* probably null Het
Ryr3 T A 2: 113,028,671 I46F probably benign Het
Sall3 A G 18: 80,972,968 S582P probably benign Het
Senp8 A G 9: 59,737,328 C169R probably damaging Het
Sgsm1 C T 5: 113,250,993 A1025T probably damaging Het
Six1 T C 12: 73,043,740 E217G possibly damaging Het
Slc38a8 T C 8: 119,485,512 D364G probably damaging Het
Stk10 A T 11: 32,614,592 E801V probably damaging Het
Ston2 A T 12: 91,647,657 I659N probably damaging Het
Stxbp4 T C 11: 90,571,753 Q331R probably benign Het
Synpo2 A T 3: 123,121,215 V54E probably damaging Het
Tax1bp1 A G 6: 52,736,947 D237G possibly damaging Het
Tmigd1 T C 11: 76,906,948 Y39H probably benign Het
Vmn1r15 A G 6: 57,258,473 T109A probably benign Het
Vmn1r209 T C 13: 22,805,854 Y222C possibly damaging Het
Zfp809 A G 9: 22,235,051 D12G probably damaging Het
Other mutations in Scn3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02825:Scn3b APN 9 40277145 missense probably damaging 1.00
IGL02998:Scn3b APN 9 40288417 missense possibly damaging 0.48
R1482:Scn3b UTSW 9 40279496 missense probably damaging 1.00
R1883:Scn3b UTSW 9 40279373 critical splice acceptor site probably null
R2111:Scn3b UTSW 9 40282445 missense probably benign 0.42
R4601:Scn3b UTSW 9 40288423 missense probably damaging 1.00
R7085:Scn3b UTSW 9 40277098 missense probably damaging 1.00
R7723:Scn3b UTSW 9 40288397 nonsense probably null
Posted On2016-08-02