Incidental Mutation 'IGL02563:Scn4b'
ID 298753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scn4b
Ensembl Gene ENSMUSG00000046480
Gene Name sodium channel, type IV, beta
Synonyms LOC384934
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02563
Quality Score
Status
Chromosome 9
Chromosomal Location 45049922-45065453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45057980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 24 (L24P)
Ref Sequence ENSEMBL: ENSMUSP00000062507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060125]
AlphaFold Q7M729
Predicted Effect probably damaging
Transcript: ENSMUST00000060125
AA Change: L24P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062507
Gene: ENSMUSG00000046480
AA Change: L24P

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
IG 38 152 4.49e-6 SMART
transmembrane domain 161 183 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A T 2: 35,270,410 (GRCm39) V97E probably damaging Het
Abhd16a C T 17: 35,320,221 (GRCm39) T362M probably damaging Het
Adam23 T G 1: 63,607,136 (GRCm39) probably benign Het
Apeh C A 9: 107,970,908 (GRCm39) R87L possibly damaging Het
Arid3a T A 10: 79,786,717 (GRCm39) M490K probably damaging Het
Atp6v1b1 T A 6: 83,732,433 (GRCm39) V251D probably benign Het
Cog8 C T 8: 107,783,055 (GRCm39) R78Q possibly damaging Het
Cyld T C 8: 89,462,522 (GRCm39) I701T probably damaging Het
Dmgdh A G 13: 93,811,047 (GRCm39) probably benign Het
Dnm1 T C 2: 32,205,931 (GRCm39) probably null Het
Dop1b T A 16: 93,574,293 (GRCm39) V2D probably damaging Het
Dusp22 A T 13: 30,889,628 (GRCm39) S70C possibly damaging Het
Dync2h1 T C 9: 7,035,700 (GRCm39) Q3415R possibly damaging Het
Dysf T C 6: 84,163,498 (GRCm39) probably benign Het
Fam114a1 G A 5: 65,163,491 (GRCm39) probably null Het
Fam20a T A 11: 109,568,620 (GRCm39) Q302L possibly damaging Het
Fancm T A 12: 65,139,236 (GRCm39) L374H probably damaging Het
Fcgbpl1 G A 7: 27,857,317 (GRCm39) E2222K probably benign Het
Fgf17 G A 14: 70,874,178 (GRCm39) Q204* probably null Het
Gap43 T C 16: 42,112,495 (GRCm39) T89A probably benign Het
Gm5069 A G 1: 180,155,464 (GRCm39) probably benign Het
Gm9913 C T 2: 125,348,254 (GRCm39) probably benign Het
Gpr174 T C X: 106,336,854 (GRCm39) L222P probably benign Het
Grid2 A T 6: 64,322,857 (GRCm39) Q619L possibly damaging Het
Hoxc13 A G 15: 102,830,233 (GRCm39) D204G possibly damaging Het
Itgav T C 2: 83,601,580 (GRCm39) V317A probably benign Het
Keg1 A T 19: 12,696,521 (GRCm39) N288I probably damaging Het
Ksr1 C T 11: 78,935,684 (GRCm39) V234I possibly damaging Het
Lrp1 T A 10: 127,387,555 (GRCm39) D3365V probably damaging Het
Luc7l3 A T 11: 94,190,894 (GRCm39) probably null Het
Mta2 T C 19: 8,925,415 (GRCm39) I348T probably benign Het
Nphp4 A G 4: 152,640,677 (GRCm39) I1015V probably benign Het
Nup214 C T 2: 31,867,872 (GRCm39) S113F probably damaging Het
Or4f7 T C 2: 111,644,162 (GRCm39) K303R probably benign Het
Pabpn1l T A 8: 123,347,122 (GRCm39) T228S probably damaging Het
Paxx T C 2: 25,349,674 (GRCm39) *206W probably null Het
Pcdhb10 A G 18: 37,546,126 (GRCm39) T401A probably benign Het
Ppp1r3a A C 6: 14,719,761 (GRCm39) D384E probably benign Het
Rif1 T C 2: 51,967,077 (GRCm39) V122A probably damaging Het
Sec22c T C 9: 121,513,716 (GRCm39) probably benign Het
Sh3rf2 A G 18: 42,289,207 (GRCm39) D676G probably damaging Het
Slc20a1 A G 2: 129,049,604 (GRCm39) T289A probably benign Het
Tekt2 T C 4: 126,218,418 (GRCm39) D84G possibly damaging Het
Tgfbr2 T A 9: 115,959,066 (GRCm39) N116I probably benign Het
Tmem196 A G 12: 119,910,209 (GRCm39) M1V probably null Het
Tnn A G 1: 159,942,123 (GRCm39) V1125A probably damaging Het
Vmn2r51 A T 7: 9,834,243 (GRCm39) M265K probably benign Het
Zfp319 T C 8: 96,050,362 (GRCm39) probably benign Het
Zfp65 A T 13: 67,856,184 (GRCm39) V365E possibly damaging Het
Zp3 T A 5: 136,016,464 (GRCm39) probably null Het
Other mutations in Scn4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2341:Scn4b UTSW 9 45,059,127 (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
Posted On 2015-04-16