Incidental Mutation 'R5912:Scn1b'
ID 461057
Institutional Source Beutler Lab
Gene Symbol Scn1b
Ensembl Gene ENSMUSG00000019194
Gene Name sodium channel, voltage-gated, type I, beta
Synonyms
MMRRC Submission 044109-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.811) question?
Stock # R5912 (G1)
Quality Score 158
Status Validated
Chromosome 7
Chromosomal Location 30815949-30826428 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30817228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 165 (V165M)
Ref Sequence ENSEMBL: ENSMUSP00000148295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098548] [ENSMUST00000108102] [ENSMUST00000165124] [ENSMUST00000168884] [ENSMUST00000211945]
AlphaFold P97952
Predicted Effect probably damaging
Transcript: ENSMUST00000098548
AA Change: V165M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096148
Gene: ENSMUSG00000019194
AA Change: V165M

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: ENSMUST00000187469
AA Change: V218M
Predicted Effect probably damaging
Transcript: ENSMUST00000188002
AA Change: V165M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139680
Gene: ENSMUSG00000019194
AA Change: V165M

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:V-set 22 139 5.6e-9 PFAM
Pfam:ig 33 123 7e-18 PFAM
transmembrane domain 154 176 N/A INTRINSIC
low complexity region 186 199 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211923
Predicted Effect probably damaging
Transcript: ENSMUST00000211945
AA Change: V165M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.0899 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (52/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,839,897 (GRCm39) C166S possibly damaging Het
Ahnak T A 19: 8,989,267 (GRCm39) M3517K probably damaging Het
Asap2 T C 12: 21,256,344 (GRCm39) V214A probably damaging Het
Atp13a4 A G 16: 29,275,389 (GRCm39) V365A probably benign Het
Bivm G T 1: 44,165,573 (GRCm39) G8* probably null Het
Cc2d2a A C 5: 43,877,772 (GRCm39) D1043A probably damaging Het
Cdh2 A C 18: 16,773,507 (GRCm39) I331S possibly damaging Het
Clip3 A C 7: 29,998,295 (GRCm39) D247A probably benign Het
Csf3r A T 4: 125,923,753 (GRCm39) I88F probably damaging Het
Cyp2j13 A T 4: 95,945,079 (GRCm39) N316K probably damaging Het
Dnah12 T A 14: 26,491,965 (GRCm39) C1133* probably null Het
Glud1 G A 14: 34,033,300 (GRCm39) probably null Het
Gm5805 A G 15: 81,857,018 (GRCm39) noncoding transcript Het
Gsg1l2 G T 11: 67,665,540 (GRCm39) probably null Het
Ikzf1 C A 11: 11,698,464 (GRCm39) S105* probably null Het
Kif18b A G 11: 102,803,817 (GRCm39) S448P probably benign Het
Klhl31 C A 9: 77,563,012 (GRCm39) N592K probably damaging Het
Kmt2c A G 5: 25,552,467 (GRCm39) F1239L possibly damaging Het
Lama5 A G 2: 179,837,268 (GRCm39) Y1014H probably damaging Het
Macf1 A C 4: 123,290,951 (GRCm39) L3980R probably damaging Het
Magi1 A T 6: 93,685,126 (GRCm39) S524T possibly damaging Het
Nlrp4f A T 13: 65,342,722 (GRCm39) Y308N probably damaging Het
Or1e33 A C 11: 73,738,501 (GRCm39) I150R possibly damaging Het
Or3a1c A T 11: 74,046,046 (GRCm39) E22V possibly damaging Het
Rfx5 G A 3: 94,866,029 (GRCm39) probably benign Het
Sema4c A C 1: 36,593,469 (GRCm39) V41G possibly damaging Het
Serpini1 G T 3: 75,523,914 (GRCm39) G174V probably benign Het
Sh2b1 T C 7: 126,070,642 (GRCm39) E353G probably damaging Het
Slc7a6 G T 8: 106,906,289 (GRCm39) V174L probably benign Het
Smg1 A T 7: 117,753,809 (GRCm39) probably benign Het
Spag9 A G 11: 93,935,251 (GRCm39) N21D probably damaging Het
Spdye4c C T 2: 128,437,994 (GRCm39) R245* probably null Het
Sulf1 A G 1: 12,856,976 (GRCm39) probably benign Het
Swt1 A G 1: 151,287,160 (GRCm39) S111P probably damaging Het
Syne2 G A 12: 75,955,721 (GRCm39) probably null Het
Tanc1 T C 2: 59,622,030 (GRCm39) V383A possibly damaging Het
Tbc1d10b G T 7: 126,799,033 (GRCm39) A491E probably damaging Het
Tek A G 4: 94,686,877 (GRCm39) T132A probably damaging Het
Traf3 A G 12: 111,221,783 (GRCm39) I290V probably benign Het
Traf5 A G 1: 191,730,030 (GRCm39) probably benign Het
Ttn A T 2: 76,640,687 (GRCm39) I13687N probably damaging Het
Unc5c A G 3: 141,494,767 (GRCm39) D415G probably damaging Het
Ust A G 10: 8,173,825 (GRCm39) Y227H probably benign Het
Vmn2r100 A G 17: 19,752,071 (GRCm39) N705D probably damaging Het
Wnk2 T C 13: 49,214,250 (GRCm39) E1444G probably damaging Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zbtb5 A G 4: 44,993,750 (GRCm39) S545P probably benign Het
Zfp710 A G 7: 79,731,222 (GRCm39) D133G probably benign Het
Zfp866 A T 8: 70,218,934 (GRCm39) C229S probably benign Het
Other mutations in Scn1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02177:Scn1b APN 7 30,816,655 (GRCm39) makesense probably null
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
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
Predicted Primers PCR Primer
(F):5'- TATTTGCCTCTGACACAGATACTC -3'
(R):5'- GCACCTTGCCACTATCAGAG -3'

Sequencing Primer
(F):5'- GCAGCAGCAATCTTCTTG -3'
(R):5'- CCTTGCCACTATCAGAGTAAACTG -3'
Posted On 2017-02-28