Incidental Mutation 'R1482:Scn3b'
ID 164451
Institutional Source Beutler Lab
Gene Symbol Scn3b
Ensembl Gene ENSMUSG00000049281
Gene Name sodium channel, voltage-gated, type III, beta
Synonyms 4833414B02Rik, 1110001K16Rik
MMRRC Submission 039535-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1482 (G1)
Quality Score 199
Status Not validated
Chromosome 9
Chromosomal Location 40180513-40202914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 40190792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 74 (D74A)
Ref Sequence ENSEMBL: ENSMUSP00000135096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049941] [ENSMUST00000114956] [ENSMUST00000171835] [ENSMUST00000176185] [ENSMUST00000216398]
AlphaFold Q8BHK2
Predicted Effect probably damaging
Transcript: ENSMUST00000049941
AA Change: D114A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051627
Gene: ENSMUSG00000049281
AA Change: D114A

DomainStartEndE-ValueType
IG 30 140 5.08e-5 SMART
transmembrane domain 153 175 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114956
AA Change: D114A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110606
Gene: ENSMUSG00000049281
AA Change: D114A

DomainStartEndE-ValueType
IG 30 140 5.08e-5 SMART
transmembrane domain 153 175 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171835
AA Change: D114A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132933
Gene: ENSMUSG00000049281
AA Change: D114A

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: D114A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134820
Gene: ENSMUSG00000049281
AA Change: D114A

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: D74A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135096
Gene: ENSMUSG00000049281
AA Change: D74A

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 unknown
Transcript: ENSMUST00000176547
AA Change: D18A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176634
Predicted Effect probably benign
Transcript: ENSMUST00000216398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215330
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 93.8%
  • 20x: 83.6%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik G A 19: 3,767,192 (GRCm39) D260N probably benign Het
Ankef1 A T 2: 136,392,078 (GRCm39) K422N possibly damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Aqp6 A T 15: 99,502,188 (GRCm39) *294C probably null Het
Baz2a T A 10: 127,944,877 (GRCm39) M38K possibly damaging Het
Bcl2l14 A G 6: 134,404,265 (GRCm39) D151G probably damaging Het
Cabp5 T A 7: 13,132,267 (GRCm39) L12* probably null Het
Cachd1 T C 4: 100,845,795 (GRCm39) V993A possibly damaging Het
Cd44 G A 2: 102,661,728 (GRCm39) T306I probably damaging Het
Cdc20 A T 4: 118,294,253 (GRCm39) N22K probably benign Het
Cdc6 T A 11: 98,807,807 (GRCm39) D433E possibly damaging Het
Clhc1 A G 11: 29,503,725 (GRCm39) D47G probably damaging Het
Csf2 T C 11: 54,139,389 (GRCm39) K65E probably benign Het
Cul9 T C 17: 46,819,473 (GRCm39) E2005G probably damaging Het
Dclk3 G T 9: 111,296,888 (GRCm39) R144L possibly damaging Het
Dcpp2 C T 17: 24,119,516 (GRCm39) T110I probably damaging Het
Disp1 A T 1: 182,868,038 (GRCm39) F1461I possibly damaging Het
Dnah1 C T 14: 31,016,831 (GRCm39) G1562D probably damaging Het
Ecpas T C 4: 58,820,163 (GRCm39) K1217E possibly damaging Het
Exoc3l2 C A 7: 19,229,284 (GRCm39) P234Q probably damaging Het
F2rl2 T C 13: 95,838,047 (GRCm39) V364A probably benign Het
Fam151a T C 4: 106,602,876 (GRCm39) L265P probably damaging Het
Fam151b T A 13: 92,586,674 (GRCm39) Q253L probably benign Het
Fat1 G A 8: 45,406,281 (GRCm39) V1011M probably benign Het
Fbxo6 G A 4: 148,230,441 (GRCm39) R274* probably null Het
Fgd4 G T 16: 16,302,337 (GRCm39) Q73K probably benign Het
Fth1 A G 19: 9,962,217 (GRCm39) T154A probably benign Het
Hgs C A 11: 120,370,866 (GRCm39) H572Q probably benign Het
Kcnk10 G A 12: 98,456,207 (GRCm39) T208I probably damaging Het
Kdm5b G A 1: 134,552,635 (GRCm39) V1204M probably damaging Het
Keg1 A C 19: 12,696,185 (GRCm39) H166P probably damaging Het
Kifap3 A T 1: 163,653,428 (GRCm39) N338I possibly damaging Het
Llcfc1 A T 6: 41,662,218 (GRCm39) D74V probably damaging Het
Lman2 A G 13: 55,499,218 (GRCm39) V219A possibly damaging Het
Mettl25 A G 10: 105,662,451 (GRCm39) I173T possibly damaging Het
Mov10 G T 3: 104,711,862 (GRCm39) P170Q probably damaging Het
Mtif2 G T 11: 29,486,847 (GRCm39) A286S probably damaging Het
Mtmr10 A G 7: 63,963,997 (GRCm39) Y244C probably damaging Het
Nbea A T 3: 55,987,414 (GRCm39) C359S probably damaging Het
Nbr1 C T 11: 101,463,667 (GRCm39) T633I probably benign Het
Nepn A T 10: 52,276,512 (GRCm39) T22S probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Oacyl T A 18: 65,871,043 (GRCm39) L342M probably damaging Het
Or2ag17 A G 7: 106,389,540 (GRCm39) F223L probably benign Het
Or52b2 T A 7: 104,986,463 (GRCm39) R153S probably damaging Het
Or6c205 T A 10: 129,087,012 (GRCm39) I203N possibly damaging Het
Or7e176 G A 9: 20,172,020 (GRCm39) V295I possibly damaging Het
Oxnad1 T C 14: 31,821,590 (GRCm39) probably null Het
Pard3b A T 1: 62,205,526 (GRCm39) D440V probably damaging Het
Pou3f2 T G 4: 22,486,960 (GRCm39) D391A possibly damaging Het
Ptprk T C 10: 28,139,512 (GRCm39) V79A probably benign Het
Rwdd2a A G 9: 86,456,331 (GRCm39) D169G probably damaging Het
Setbp1 C T 18: 79,130,050 (GRCm39) D61N probably damaging Het
Setx T A 2: 29,053,004 (GRCm39) D2089E probably damaging Het
Vmn2r69 C G 7: 85,056,082 (GRCm39) W685C probably damaging Het
Vps8 A G 16: 21,400,348 (GRCm39) Q1272R probably benign Het
Wnk4 T C 11: 101,160,462 (GRCm39) F699L probably damaging Het
Zfp616 T A 11: 73,974,803 (GRCm39) N448K possibly damaging Het
Zfp618 C A 4: 63,033,685 (GRCm39) D307E possibly damaging Het
Zfp687 A G 3: 94,914,844 (GRCm39) F1219S probably damaging Het
Zfpm2 T A 15: 40,962,687 (GRCm39) D248E 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
IGL03177:Scn3b APN 9 40,181,338 (GRCm39) missense probably benign 0.00
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
Predicted Primers PCR Primer
(F):5'- ACACAGTCGCCTTGTTGGTCTC -3'
(R):5'- GTATAAGAAGCCACTGTCCATCGCC -3'

Sequencing Primer
(F):5'- AGCTTTCCTGCCCATAGTAGC -3'
(R):5'- TTGTGGTCTTCACAAAGGGC -3'
Posted On 2014-03-28