Incidental Mutation 'IGL02573:Scn1b'
ID 299088
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 # IGL02573
Quality Score
Status
Chromosome 7
Chromosomal Location 30815949-30826428 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30822546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 78 (L78Q)
Ref Sequence ENSEMBL: ENSMUSP00000148295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098548] [ENSMUST00000211945]
AlphaFold P97952
Predicted Effect possibly damaging
Transcript: ENSMUST00000098548
AA Change: L78Q

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096148
Gene: ENSMUSG00000019194
AA Change: L78Q

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 noncoding transcript
Transcript: ENSMUST00000211923
Predicted Effect possibly damaging
Transcript: ENSMUST00000211945
AA Change: L78Q

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl3 T A 4: 98,926,171 (GRCm39) W434R probably damaging Het
Atp7b T C 8: 22,512,486 (GRCm39) Q344R probably benign Het
B4galt5 C T 2: 167,146,982 (GRCm39) R284Q probably benign Het
Ccdc80 T G 16: 44,915,952 (GRCm39) V236G probably damaging Het
Chd8 T C 14: 52,457,191 (GRCm39) I926V possibly damaging Het
Dgkz A C 2: 91,764,542 (GRCm39) S1030R probably damaging Het
Disp3 T A 4: 148,355,906 (GRCm39) D318V probably damaging Het
Dnaaf10 T C 11: 17,162,136 (GRCm39) L58P possibly damaging Het
Ehd1 T C 19: 6,344,330 (GRCm39) S197P probably damaging Het
Emp1 A G 6: 135,356,945 (GRCm39) K42R probably benign Het
Garin4 G A 1: 190,896,067 (GRCm39) T192I probably damaging Het
Gm4922 T A 10: 18,659,423 (GRCm39) D433V probably benign Het
Gsdma T C 11: 98,561,577 (GRCm39) probably benign Het
Hspbp1 G T 7: 4,680,852 (GRCm39) A208E probably damaging Het
Il5ra A T 6: 106,693,712 (GRCm39) V342E possibly damaging Het
Kif13b T C 14: 65,040,880 (GRCm39) F1660S probably damaging Het
Lvrn A G 18: 47,010,016 (GRCm39) E388G probably damaging Het
Mettl17 G A 14: 52,125,504 (GRCm39) probably null Het
Mgat5b T C 11: 116,868,540 (GRCm39) Y488H probably benign Het
Mtr A T 13: 12,214,013 (GRCm39) D886E possibly damaging Het
Naip6 A T 13: 100,435,979 (GRCm39) L848* probably null Het
Nav3 A G 10: 109,702,835 (GRCm39) S233P probably benign Het
Nme9 A T 9: 99,352,908 (GRCm39) D286V probably benign Het
Nod1 C A 6: 54,920,930 (GRCm39) A463S probably benign Het
Nthl1 A G 17: 24,852,949 (GRCm39) K51R probably benign Het
Or1n2 A G 2: 36,797,566 (GRCm39) I203V probably damaging Het
Or6k14 T A 1: 173,927,696 (GRCm39) V224D possibly damaging Het
Pcnx2 G A 8: 126,582,012 (GRCm39) A908V probably benign Het
Pdcd6 A G 13: 74,452,098 (GRCm39) Y181H probably damaging Het
Pde10a A C 17: 9,180,722 (GRCm39) I719L probably benign Het
Pikfyve T A 1: 65,270,014 (GRCm39) probably null Het
Plekha5 G T 6: 140,527,742 (GRCm39) A396S probably damaging Het
Ppfia2 A G 10: 106,664,789 (GRCm39) T342A probably damaging Het
Rbck1 A G 2: 152,164,087 (GRCm39) I339T possibly damaging Het
Rbms2 A T 10: 127,979,309 (GRCm39) I140N probably damaging Het
Slc12a6 T C 2: 112,188,986 (GRCm39) probably null Het
Slc25a30 A T 14: 76,007,108 (GRCm39) probably benign Het
Slc30a7 C T 3: 115,783,796 (GRCm39) probably benign Het
Slc5a10 C A 11: 61,563,898 (GRCm39) R546L possibly damaging Het
Stxbp4 T C 11: 90,431,095 (GRCm39) D405G probably damaging Het
Tm4sf19 A C 16: 32,226,678 (GRCm39) T156P possibly damaging Het
Tmem37 A T 1: 119,995,719 (GRCm39) D119E probably damaging Het
Tor1aip1 T A 1: 155,889,117 (GRCm39) N113I probably damaging Het
Ubac2 T A 14: 122,144,802 (GRCm39) Y87N possibly damaging Het
Usp29 A T 7: 6,965,617 (GRCm39) probably null Het
Zfp276 A G 8: 123,991,736 (GRCm39) E428G probably damaging Het
Other mutations in Scn1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02177:Scn1b APN 7 30,816,655 (GRCm39) makesense probably null
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