Incidental Mutation 'IGL02825:Scn3b'
ID361166
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 #IGL02825
Quality Score
Status
Chromosome9
Chromosomal Location40269217-40291618 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40277145 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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 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

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 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

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 probably benign
Transcript: ENSMUST00000176547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176634
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo A G 2: 26,843,698 V163A possibly damaging Het
Ap1b1 G T 11: 5,033,738 A664S possibly damaging Het
B3gnt4 T C 5: 123,511,051 F160L possibly damaging Het
Brd3 T C 2: 27,449,263 E685G probably damaging Het
Cacna2d2 C T 9: 107,524,460 R746C probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Chl1 T A 6: 103,668,803 V268E possibly damaging Het
Cpb1 T A 3: 20,249,725 I392F probably damaging Het
Dnaic1 T C 4: 41,625,101 probably benign Het
Dync2h1 T C 9: 6,955,901 probably benign Het
Edc4 T C 8: 105,890,611 S1021P probably damaging Het
Exoc7 A C 11: 116,297,585 L296R probably damaging Het
Fgd5 A G 6: 92,038,087 probably null Het
Gm28042 T A 2: 120,031,644 M232K probably damaging Het
Gm884 G A 11: 103,617,068 probably benign Het
Ints1 A T 5: 139,764,739 S888T probably benign Het
Kirrel A T 3: 87,089,288 probably benign Het
Lrp1 C T 10: 127,542,605 R4037Q probably damaging Het
Lrrn3 A T 12: 41,452,593 V575D probably damaging Het
Mapk11 A G 15: 89,146,382 Y103H probably damaging Het
Mrpl19 G T 6: 81,965,815 T38K probably benign Het
Nefl A T 14: 68,084,346 K128N possibly damaging Het
Olfm1 A G 2: 28,229,078 N242D probably damaging Het
Olfr601 T C 7: 103,358,361 I278V probably benign Het
Olfr959 A T 9: 39,572,581 I226N probably damaging Het
Oprd1 T A 4: 132,117,359 T113S probably damaging Het
Pds5b C T 5: 150,728,970 T234I possibly damaging Het
Prpf3 A T 3: 95,853,480 C37S probably damaging Het
Rpgrip1l G A 8: 91,304,805 T148M probably damaging Het
Rph3a T C 5: 120,945,446 K587R possibly damaging Het
Sirpa C T 2: 129,615,452 P149S probably damaging Het
Slco1a1 A T 6: 141,918,617 C486S probably damaging Het
Spin1 C A 13: 51,123,296 probably benign Het
Stom C A 2: 35,321,632 V126F probably damaging Het
Tom1 A G 8: 75,057,255 D64G probably damaging Het
Trbv4 T A 6: 41,059,679 L46Q probably damaging Het
Trhr A T 15: 44,229,525 D386V possibly damaging Het
Vmn2r101 T A 17: 19,589,870 I306N probably benign Het
Vmn2r51 C T 7: 10,098,119 probably benign Het
Vmn2r63 A G 7: 42,926,850 probably null Het
Zfp277 T C 12: 40,317,176 K494E probably benign Het
Zranb3 A T 1: 127,959,752 S979R probably benign Het
Other mutations in Scn3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02998:Scn3b APN 9 40288417 missense possibly damaging 0.48
IGL03177:Scn3b APN 9 40270042 missense probably benign 0.00
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 On2015-12-18