Incidental Mutation 'R2341:Scn4b'
ID246754
Institutional Source Beutler Lab
Gene Symbol Scn4b
Ensembl Gene ENSMUSG00000046480
Gene Namesodium channel, type IV, beta
SynonymsLOC384934
MMRRC Submission 040327-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2341 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location45138395-45154152 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 45147829 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 133 (V133M)
Ref Sequence ENSEMBL: ENSMUSP00000062507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060125]
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
1700017D01Rik T A 19: 11,105,793 M88L probably benign Het
4933412E24Rik A G 15: 60,016,363 V76A possibly damaging Het
Aif1 G A 17: 35,172,151 P44L probably benign Het
Anapc4 T C 5: 52,841,937 probably benign Het
Anxa4 A G 6: 86,743,153 S144P probably benign Het
Bcr A G 10: 75,131,112 E517G probably damaging Het
Ccdc57 T C 11: 120,860,523 E907G probably benign Het
Chd6 TG T 2: 160,965,759 probably null Het
Dock6 A G 9: 21,839,486 probably benign Het
Dock8 A G 19: 25,200,393 K2031E probably damaging Het
Gm5444 T C 13: 4,834,345 noncoding transcript Het
Hlx G T 1: 184,731,987 A52D probably damaging Het
Ifna16 A G 4: 88,676,328 S177P probably damaging Het
Ino80d T C 1: 63,065,826 N364D possibly damaging Het
Ltbp2 T C 12: 84,809,163 T769A probably benign Het
Mug1 T C 6: 121,884,629 V1350A probably benign Het
Nedd9 A G 13: 41,316,511 S389P probably damaging Het
Olfr1098 T C 2: 86,922,638 K298R possibly damaging Het
Olfr1122 A T 2: 87,387,740 I12F probably benign Het
Olfr1201 A G 2: 88,794,645 N88D probably benign Het
Pole A T 5: 110,330,963 I28F possibly damaging Het
Prkce C A 17: 86,474,442 P180T probably damaging Het
Ralgapa1 T C 12: 55,677,124 H1995R possibly damaging Het
Rnf144b A G 13: 47,220,500 K58E probably benign Het
Rnf43 A G 11: 87,732,025 R651G probably damaging Het
Scel A T 14: 103,608,170 L580F possibly damaging Het
Sipa1l3 T C 7: 29,377,635 N904S probably damaging Het
Sun5 A G 2: 153,867,502 probably benign Het
Tanc2 T C 11: 105,835,051 V347A probably benign Het
Tmem245 T C 4: 56,937,957 Y197C probably damaging Het
Usp30 C T 5: 114,111,180 R182* probably null Het
Vmn2r112 T A 17: 22,603,115 V258E probably damaging Het
Vps35 T C 8: 85,274,814 probably benign Het
Xkr7 G A 2: 153,054,398 V391M possibly damaging Het
Ythdf3 A T 3: 16,203,215 probably benign Het
Zfp110 T C 7: 12,849,186 V587A probably benign Het
Other mutations in Scn4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02563:Scn4b APN 9 45146682 missense probably damaging 1.00
IGL03260:Scn4b APN 9 45147689 missense probably damaging 1.00
R1543:Scn4b UTSW 9 45150429 missense probably damaging 1.00
R4611:Scn4b UTSW 9 45150439 missense probably damaging 1.00
R5119:Scn4b UTSW 9 45147758 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGACACTTGACTGCTCTTTGG -3'
(R):5'- AGCTTCCAGATGCAACTGC -3'

Sequencing Primer
(F):5'- CACTTGACTGCTCTTTGGGGTAATC -3'
(R):5'- CTGCAGTAACTCTTGCAAGTG -3'
Posted On2014-10-30