Incidental Mutation 'R7085:Scn3b'
ID 549840
Institutional Source Beutler Lab
Gene Symbol Scn3b
Ensembl Gene ENSMUSG00000049281
Gene Name sodium channel, voltage-gated, type III, beta
Synonyms 4833414B02Rik, 1110001K16Rik
MMRRC Submission 045179-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7085 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 40180513-40202914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40188394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 29 (V29A)
Ref Sequence ENSEMBL: ENSMUSP00000051627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049941] [ENSMUST00000114956] [ENSMUST00000171835] [ENSMUST00000176185]
AlphaFold Q8BHK2
Predicted Effect probably damaging
Transcript: ENSMUST00000049941
AA Change: V29A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051627
Gene: ENSMUSG00000049281
AA Change: V29A

DomainStartEndE-ValueType
IG 30 140 5.08e-5 SMART
transmembrane domain 153 175 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114956
AA Change: V29A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110606
Gene: ENSMUSG00000049281
AA Change: V29A

DomainStartEndE-ValueType
IG 30 140 5.08e-5 SMART
transmembrane domain 153 175 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171835
AA Change: V29A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132933
Gene: ENSMUSG00000049281
AA Change: V29A

DomainStartEndE-ValueType
IG 30 140 5.08e-5 SMART
transmembrane domain 153 175 N/A INTRINSIC
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 probably benign
Transcript: ENSMUST00000176547
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (75/79)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T C 10: 29,100,476 (GRCm39) L283P probably damaging Het
Abhd18 T C 3: 40,871,344 (GRCm39) M132T possibly damaging Het
Afap1l1 A G 18: 61,881,885 (GRCm39) V270A possibly damaging Het
Ankrd34a A T 3: 96,505,945 (GRCm39) Q383L probably benign Het
Atp8b5 A G 4: 43,361,835 (GRCm39) D627G probably damaging Het
Atrnl1 T A 19: 57,680,289 (GRCm39) C730S probably damaging Het
Bclaf1 T C 10: 20,197,768 (GRCm39) S4P unknown Het
Blzf1 T C 1: 164,129,893 (GRCm39) D153G probably damaging Het
Btaf1 T C 19: 36,950,318 (GRCm39) V516A probably benign Het
C1qa T C 4: 136,625,091 (GRCm39) T20A probably benign Het
Cacna1e A T 1: 154,349,492 (GRCm39) probably null Het
Cfd T G 10: 79,728,326 (GRCm39) V229G probably damaging Het
Chd3 T A 11: 69,260,027 (GRCm39) H64L unknown Het
Cntn3 A G 6: 102,142,362 (GRCm39) S1002P possibly damaging Het
Cntrl T A 2: 35,055,804 (GRCm39) C1786S probably benign Het
Cpa1 A G 6: 30,643,619 (GRCm39) D355G probably benign Het
D130043K22Rik T C 13: 25,056,285 (GRCm39) V539A possibly damaging Het
Ddx1 A C 12: 13,279,356 (GRCm39) W428G probably damaging Het
Ddx49 G A 8: 70,755,133 (GRCm39) probably benign Het
Dnhd1 T A 7: 105,364,468 (GRCm39) V4207E probably benign Het
Dock3 A G 9: 106,779,086 (GRCm39) S288P probably damaging Het
Drap1 G A 19: 5,474,815 (GRCm39) probably benign Het
Ecm2 G A 13: 49,674,378 (GRCm39) R266K probably damaging Het
Emilin2 A G 17: 71,581,100 (GRCm39) L542S probably damaging Het
Evx1 T C 6: 52,293,677 (GRCm39) Y282H possibly damaging Het
Fbxo44 T A 4: 148,243,200 (GRCm39) H20L probably damaging Het
Flot2 G T 11: 77,948,900 (GRCm39) A292S possibly damaging Het
Fry A G 5: 150,362,214 (GRCm39) I2161V probably benign Het
Gli3 T C 13: 15,889,647 (GRCm39) F587S probably damaging Het
Gm49368 A G 7: 127,726,029 (GRCm39) D1147G unknown Het
Gprc5b A T 7: 118,582,855 (GRCm39) M338K probably damaging Het
H1f11-ps A G 19: 47,159,101 (GRCm39) V158A unknown Het
Hacd3 A C 9: 64,905,525 (GRCm39) N204K probably damaging Het
Hsd3b9 T C 3: 98,357,710 (GRCm39) N101D probably damaging Het
Hydin A G 8: 111,329,962 (GRCm39) T4899A probably benign Het
Ido2 T A 8: 25,048,212 (GRCm39) R49S probably benign Het
Igsf3 C A 3: 101,362,805 (GRCm39) T942K probably benign Het
Kank4 T A 4: 98,668,183 (GRCm39) Q88L probably benign Het
Krtap16-1 T A 11: 99,877,111 (GRCm39) I98F possibly damaging Het
Laptm4a T C 12: 8,972,113 (GRCm39) V52A probably benign Het
Lmbr1 A T 5: 29,566,090 (GRCm39) probably null Het
Lnx1 G A 5: 74,788,846 (GRCm39) S31F possibly damaging Het
Mafa G T 15: 75,619,536 (GRCm39) A79E unknown Het
Me2 A T 18: 73,914,129 (GRCm39) N467K probably damaging Het
Med23 T A 10: 24,746,019 (GRCm39) L8Q probably damaging Het
Muc16 T A 9: 18,556,145 (GRCm39) I3383F unknown Het
Nbas G T 12: 13,335,259 (GRCm39) S151I probably damaging Het
Or10ag60 T A 2: 87,437,750 (GRCm39) I6N probably benign Het
Or10d5j C A 9: 39,867,808 (GRCm39) C141F probably damaging Het
Or13c25 C T 4: 52,910,961 (GRCm39) A278T probably benign Het
Or6k6 T A 1: 173,945,226 (GRCm39) I119F probably damaging Het
Or7d11 G A 9: 19,966,232 (GRCm39) H58Y probably benign Het
Piezo1 A G 8: 123,217,633 (GRCm39) V1305A Het
Plcb3 T C 19: 6,937,501 (GRCm39) E639G possibly damaging Het
Polr2a A G 11: 69,634,706 (GRCm39) L658P probably damaging Het
Prag1 A T 8: 36,571,391 (GRCm39) Q658L possibly damaging Het
Prex2 A T 1: 11,168,812 (GRCm39) R269S possibly damaging Het
Reln C A 5: 22,120,085 (GRCm39) G2856* probably null Het
Rsph10b A T 5: 143,886,102 (GRCm39) T267S possibly damaging Het
Rtn4rl1 A G 11: 75,156,050 (GRCm39) I161V probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sbno1 G A 5: 124,519,783 (GRCm39) P1165L possibly damaging Het
Sh3d21 T A 4: 126,056,884 (GRCm39) T13S probably benign Het
Shisal2b G T 13: 104,994,814 (GRCm39) T111K probably benign Het
Slc22a22 G A 15: 57,113,045 (GRCm39) T398I probably benign Het
Slc40a1 T A 1: 45,950,688 (GRCm39) T255S probably benign Het
Smchd1 A T 17: 71,672,214 (GRCm39) probably null Het
Soat1 A T 1: 156,259,901 (GRCm39) V480D probably damaging Het
Spata31e2 A G 1: 26,722,546 (GRCm39) L878P possibly damaging Het
Supt5 T A 7: 28,030,914 (GRCm39) E39V unknown Het
Tapbpl T C 6: 125,203,451 (GRCm39) probably null Het
Tdpoz7 T A 3: 93,979,939 (GRCm39) M5L probably benign Het
Tlr11 A T 14: 50,600,113 (GRCm39) I700F probably damaging Het
Tmc3 A T 7: 83,271,353 (GRCm39) K864M possibly damaging Het
Tns1 G A 1: 73,964,621 (GRCm39) P81S probably benign Het
Tspan2 C A 3: 102,668,270 (GRCm39) L168I probably benign Het
Unc13d C A 11: 115,955,633 (GRCm39) S885I probably benign Het
Unc45a A T 7: 79,976,082 (GRCm39) M799K possibly damaging Het
Usp34 A G 11: 23,313,097 (GRCm39) D547G Het
Vps33b A G 7: 79,925,837 (GRCm39) I95V probably benign 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
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
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'- TGATCATGCATACTCAAGGAGCC -3'
(R):5'- AGACTGTTAGGAACCAGGCAC -3'

Sequencing Primer
(F):5'- TACTCAAGGAGCCCCAGTAATGG -3'
(R):5'- GTTAGGAACCAGGCACACAGC -3'
Posted On 2019-05-15