Incidental Mutation 'R2341:Scn4b'
ID 246754
Institutional Source Beutler Lab
Gene Symbol Scn4b
Ensembl Gene ENSMUSG00000046480
Gene Name sodium channel, type IV, beta
Synonyms LOC384934
MMRRC Submission 040327-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2341 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 45049922-45065453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45059127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 133 (V133M)
Ref Sequence ENSEMBL: ENSMUSP00000062507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060125]
AlphaFold Q7M729
Predicted Effect probably damaging
Transcript: ENSMUST00000060125
AA Change: V133M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062507
Gene: ENSMUSG00000046480
AA Change: V133M

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
IG 38 152 4.49e-6 SMART
transmembrane domain 161 183 N/A INTRINSIC
Meta Mutation Damage Score 0.4985 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 97% (36/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a conditional ready allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 59,888,212 (GRCm39) V76A possibly damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Anapc4 T C 5: 52,999,279 (GRCm39) probably benign Het
Anxa4 A G 6: 86,720,135 (GRCm39) S144P probably benign Het
Bcr A G 10: 74,966,944 (GRCm39) E517G probably damaging Het
Ccdc57 T C 11: 120,751,349 (GRCm39) E907G probably benign Het
Chd6 TG T 2: 160,807,679 (GRCm39) probably null Het
Dock6 A G 9: 21,750,782 (GRCm39) probably benign Het
Dock8 A G 19: 25,177,757 (GRCm39) K2031E probably damaging Het
Gm5444 T C 13: 4,884,344 (GRCm39) noncoding transcript Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Ifna16 A G 4: 88,594,565 (GRCm39) S177P probably damaging Het
Ino80d T C 1: 63,104,985 (GRCm39) N364D possibly damaging Het
Ltbp2 T C 12: 84,855,937 (GRCm39) T769A probably benign Het
Ms4a20 T A 19: 11,083,157 (GRCm39) M88L probably benign Het
Mug1 T C 6: 121,861,588 (GRCm39) V1350A probably benign Het
Nedd9 A G 13: 41,469,987 (GRCm39) S389P probably damaging Het
Or10ag57 A T 2: 87,218,084 (GRCm39) I12F probably benign Het
Or4c11b A G 2: 88,624,989 (GRCm39) N88D probably benign Het
Or8h8 T C 2: 86,752,982 (GRCm39) K298R possibly damaging Het
Pole A T 5: 110,478,829 (GRCm39) I28F possibly damaging Het
Prkce C A 17: 86,781,870 (GRCm39) P180T probably damaging Het
Ralgapa1 T C 12: 55,723,909 (GRCm39) H1995R possibly damaging Het
Rnf144b A G 13: 47,373,976 (GRCm39) K58E probably benign Het
Rnf43 A G 11: 87,622,851 (GRCm39) R651G probably damaging Het
Scel A T 14: 103,845,606 (GRCm39) L580F possibly damaging Het
Sipa1l3 T C 7: 29,077,060 (GRCm39) N904S probably damaging Het
Sun5 A G 2: 153,709,422 (GRCm39) probably benign Het
Tanc2 T C 11: 105,725,877 (GRCm39) V347A probably benign Het
Tmem245 T C 4: 56,937,957 (GRCm39) Y197C probably damaging Het
Usp30 C T 5: 114,249,241 (GRCm39) R182* probably null Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vps35 T C 8: 86,001,443 (GRCm39) probably benign Het
Xkr7 G A 2: 152,896,318 (GRCm39) V391M possibly damaging Het
Ythdf3 A T 3: 16,257,379 (GRCm39) probably benign Het
Zfp110 T C 7: 12,583,113 (GRCm39) V587A probably benign Het
Other mutations in Scn4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02563:Scn4b APN 9 45,057,980 (GRCm39) missense probably damaging 1.00
IGL03260:Scn4b APN 9 45,058,987 (GRCm39) missense probably damaging 1.00
R1543:Scn4b UTSW 9 45,061,727 (GRCm39) missense probably damaging 1.00
R4611:Scn4b UTSW 9 45,061,737 (GRCm39) missense probably damaging 1.00
R5119:Scn4b UTSW 9 45,059,056 (GRCm39) missense probably damaging 0.98
R7920:Scn4b UTSW 9 45,058,069 (GRCm39) missense probably damaging 0.99
R7993:Scn4b UTSW 9 45,059,007 (GRCm39) missense probably benign 0.01
R8352:Scn4b UTSW 9 45,058,039 (GRCm39) missense possibly damaging 0.67
R8452:Scn4b UTSW 9 45,058,039 (GRCm39) missense possibly damaging 0.67
R8906:Scn4b UTSW 9 45,059,169 (GRCm39) missense possibly damaging 0.87
R9157:Scn4b UTSW 9 45,058,013 (GRCm39) missense probably damaging 1.00
R9313:Scn4b UTSW 9 45,058,013 (GRCm39) missense probably damaging 1.00
R9716:Scn4b UTSW 9 45,060,639 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGACACTTGACTGCTCTTTGG -3'
(R):5'- AGCTTCCAGATGCAACTGC -3'

Sequencing Primer
(F):5'- CACTTGACTGCTCTTTGGGGTAATC -3'
(R):5'- CTGCAGTAACTCTTGCAAGTG -3'
Posted On 2014-10-30