Incidental Mutation 'IGL02177:Scn1b'
ID 283149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scn1b
Ensembl Gene ENSMUSG00000019194
Gene Name sodium channel, voltage-gated, type I, beta
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.811) question?
Stock # IGL02177
Quality Score
Status
Chromosome 7
Chromosomal Location 30815949-30826428 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 30816655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 219 (*219W)
Ref Sequence ENSEMBL: ENSMUSP00000148295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098548] [ENSMUST00000108102] [ENSMUST00000165124] [ENSMUST00000168884] [ENSMUST00000211945]
AlphaFold P97952
Predicted Effect probably null
Transcript: ENSMUST00000098548
AA Change: *219W
SMART Domains Protein: ENSMUSP00000096148
Gene: ENSMUSG00000019194
AA Change: *219W

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:V-set 23 147 7.7e-17 PFAM
transmembrane domain 154 176 N/A INTRINSIC
low complexity region 186 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108102
SMART Domains Protein: ENSMUSP00000103737
Gene: ENSMUSG00000001249

DomainStartEndE-ValueType
transmembrane domain 37 59 N/A INTRINSIC
SR 73 170 8.44e-5 SMART
Tryp_SPc 181 419 3.09e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165124
Predicted Effect probably benign
Transcript: ENSMUST00000168884
SMART Domains Protein: ENSMUSP00000131658
Gene: ENSMUSG00000001249

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
SR 53 150 8.44e-5 SMART
Tryp_SPc 161 399 3.09e-98 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211923
Predicted Effect probably null
Transcript: ENSMUST00000211945
AA Change: *219W
Coding Region Coverage
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 heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous inactivation of this locus results in defects in neuronal excitability, and nodal architecture. Homozygous null mice are growth retarded, exhibit spontaneous generalized seizuress, and die prior to weaning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T G 19: 53,205,323 (GRCm39) Y24* probably null Het
Catsperb A G 12: 101,507,721 (GRCm39) Y496C probably damaging Het
Ccdc183 C T 2: 25,502,095 (GRCm39) E260K probably benign Het
Ccdc81 A C 7: 89,524,988 (GRCm39) M531R possibly damaging Het
Cyp3a16 T A 5: 145,386,964 (GRCm39) N342I probably benign Het
Defb43 T C 14: 63,249,266 (GRCm39) V3A probably benign Het
Dpyd T A 3: 118,858,559 (GRCm39) I591N possibly damaging Het
Dpysl5 T G 5: 30,902,622 (GRCm39) V18G probably damaging Het
Erc2 A T 14: 27,620,580 (GRCm39) M69L probably benign Het
Fam184b G T 5: 45,690,157 (GRCm39) Y817* probably null Het
Fyb1 G T 15: 6,688,047 (GRCm39) probably null Het
Gpr33 G T 12: 52,070,863 (GRCm39) Q59K probably benign Het
Heatr3 T G 8: 88,883,351 (GRCm39) F278V probably benign Het
Hectd1 A T 12: 51,819,103 (GRCm39) D1292E probably damaging Het
Herc1 A T 9: 66,341,793 (GRCm39) M1861L probably benign Het
Hspg2 T A 4: 137,242,627 (GRCm39) L614Q probably damaging Het
Itpr3 A G 17: 27,318,588 (GRCm39) R915G possibly damaging Het
Jhy T C 9: 40,809,553 (GRCm39) D646G probably damaging Het
Lrig1 T A 6: 94,640,977 (GRCm39) N76I possibly damaging Het
Macc1 A G 12: 119,429,292 (GRCm39) D814G probably damaging Het
Mapk8ip1 T C 2: 92,217,092 (GRCm39) D401G probably damaging Het
Nedd4 T A 9: 72,654,439 (GRCm39) S865T probably damaging Het
Or9s27 G A 1: 92,516,479 (GRCm39) M142I possibly damaging Het
Pi4ka A T 16: 17,136,146 (GRCm39) D937E probably benign Het
Prkcd T A 14: 30,327,844 (GRCm39) I81F probably damaging Het
Ranbp9 A T 13: 43,573,193 (GRCm39) C280S probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slain2 T C 5: 73,072,008 (GRCm39) V14A probably benign Het
Soat1 A T 1: 156,268,073 (GRCm39) probably benign Het
Tbc1d4 T A 14: 101,692,375 (GRCm39) M1030L possibly damaging Het
Tenm4 T C 7: 96,544,869 (GRCm39) V2295A probably benign Het
Tmem135 A G 7: 88,987,661 (GRCm39) Y46H probably damaging Het
Tnfsf18 A T 1: 161,331,354 (GRCm39) D168V probably damaging Het
Trdn T C 10: 33,015,169 (GRCm39) V41A probably damaging Het
Trpc5 G T X: 143,264,234 (GRCm39) L208I probably damaging Het
Vmn1r50 T C 6: 90,085,139 (GRCm39) Y295H probably benign Het
Vmn2r18 T G 5: 151,510,274 (GRCm39) H33P possibly damaging Het
Vmn2r84 T C 10: 130,227,881 (GRCm39) I118M probably benign Het
Other mutations in Scn1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02573:Scn1b APN 7 30,822,546 (GRCm39) missense possibly damaging 0.88
IGL02873:Scn1b APN 7 30,817,182 (GRCm39) missense probably damaging 0.99
R4644:Scn1b UTSW 7 30,817,212 (GRCm39) nonsense probably null
R5912:Scn1b UTSW 7 30,817,228 (GRCm39) missense probably damaging 1.00
R9322:Scn1b UTSW 7 30,824,517 (GRCm39) missense probably damaging 1.00
R9731:Scn1b UTSW 7 30,824,596 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16