Incidental Mutation 'IGL02589:Scn4a'
ID299675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scn4a
Ensembl Gene ENSMUSG00000001027
Gene Namesodium channel, voltage-gated, type IV, alpha
SynonymsSkM1, mH2, Nav1.4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02589
Quality Score
Status
Chromosome11
Chromosomal Location106318592-106353288 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 106328132 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 953 (D953E)
Ref Sequence ENSEMBL: ENSMUSP00000021056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021056]
Predicted Effect probably benign
Transcript: ENSMUST00000021056
AA Change: D953E

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: D953E

DomainStartEndE-ValueType
Pfam:Ion_trans 130 452 1.1e-80 PFAM
low complexity region 473 491 N/A INTRINSIC
Pfam:Ion_trans 571 805 4.2e-56 PFAM
Pfam:Na_trans_assoc 810 1020 3.2e-59 PFAM
Pfam:Ion_trans 1024 1299 1.4e-64 PFAM
Pfam:Ion_trans 1346 1603 6.1e-55 PFAM
Pfam:PKD_channel 1441 1598 1.4e-6 PFAM
IQ 1720 1742 2.5e-2 SMART
low complexity region 1815 1827 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.] Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous or homozygous for a knock-in allele develop myotonia, increased myofiber damage, K+-sensitive paralysis and susceptibility to delayed weakness during recovery from fatigue. Homozygotes show perinatal lethality, low survival rate, unusual hind-limb clasping and reduced body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410015M20Rik T C 17: 56,608,856 E66G probably benign Het
5430403G16Rik T A 5: 109,678,520 H62L possibly damaging Het
A2ml1 T G 6: 128,581,500 I5L probably benign Het
Ang6 A G 14: 44,001,962 I103T possibly damaging Het
Arhgdib A G 6: 136,933,578 probably benign Het
Atp13a2 C T 4: 141,006,411 T1037M probably damaging Het
Bptf T C 11: 107,111,531 N252D possibly damaging Het
Capn2 T C 1: 182,484,348 Y387C probably damaging Het
Cdc27 T G 11: 104,505,644 D817A probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntnap3 T G 13: 64,792,430 I318L probably benign Het
Cog6 A T 3: 53,007,270 L255Q probably damaging Het
Ect2l T A 10: 18,140,594 probably benign Het
Ercc5 T C 1: 44,164,049 V282A probably damaging Het
Fras1 A G 5: 96,769,513 D3464G probably damaging Het
Gabrg1 A T 5: 70,842,152 L18* probably null Het
Ggcx T C 6: 72,429,148 Y586H probably damaging Het
Gm5796 A T 14: 4,033,828 K24* probably null Het
Gnb4 C T 3: 32,589,849 V187M probably damaging Het
Gpt2 C T 8: 85,516,166 Q276* probably null Het
Idnk G T 13: 58,163,425 probably benign Het
Igkv3-9 A G 6: 70,588,699 D94G possibly damaging Het
Ipo8 C A 6: 148,809,907 L294F probably damaging Het
Itgad A T 7: 128,181,711 D157V probably damaging Het
Kcnab3 A T 11: 69,332,102 I392L probably benign Het
Kdm3b A G 18: 34,812,418 S761G possibly damaging Het
Kif21a G A 15: 90,985,286 T454M probably damaging Het
Lta4h A G 10: 93,474,931 N441S probably benign Het
Man2a1 A G 17: 64,679,778 E595G probably benign Het
Mvd T C 8: 122,438,034 probably benign Het
Notch2 A G 3: 98,104,347 probably null Het
Phf20l1 G T 15: 66,615,632 probably benign Het
Rdm1 A G 11: 101,628,005 S13G possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sh2b1 A G 7: 126,469,268 I457T probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tagap C A 17: 7,933,672 T563K possibly damaging Het
Ugt1a7c T C 1: 88,095,638 I173T probably benign Het
Unc79 C T 12: 103,173,496 A2370V probably damaging Het
Vmn2r102 T A 17: 19,681,218 C536S probably damaging Het
Vmn2r53 G A 7: 12,581,945 T649I possibly damaging Het
Whrn G A 4: 63,418,097 Q301* probably null Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Scn4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Scn4a APN 11 106319919 missense probably benign
IGL00846:Scn4a APN 11 106328118 missense probably benign 0.03
IGL01063:Scn4a APN 11 106330364 missense possibly damaging 0.91
IGL01450:Scn4a APN 11 106324661 missense probably damaging 0.99
IGL01922:Scn4a APN 11 106339152 critical splice donor site probably null
IGL03171:Scn4a APN 11 106345592 missense probably benign 0.01
IGL03338:Scn4a APN 11 106320845 missense probably damaging 1.00
R0013:Scn4a UTSW 11 106348405 splice site probably benign
R0013:Scn4a UTSW 11 106348405 splice site probably benign
R0025:Scn4a UTSW 11 106324560 missense probably benign 0.39
R0025:Scn4a UTSW 11 106324560 missense probably benign 0.39
R0050:Scn4a UTSW 11 106320856 missense probably damaging 1.00
R0113:Scn4a UTSW 11 106345436 missense probably benign 0.00
R0193:Scn4a UTSW 11 106320538 nonsense probably null
R0410:Scn4a UTSW 11 106323949 missense probably damaging 1.00
R0512:Scn4a UTSW 11 106345677 missense probably damaging 1.00
R0532:Scn4a UTSW 11 106330400 missense probably benign 0.45
R1112:Scn4a UTSW 11 106320466 missense probably damaging 1.00
R1279:Scn4a UTSW 11 106335682 missense probably damaging 1.00
R1564:Scn4a UTSW 11 106345541 missense probably benign
R1712:Scn4a UTSW 11 106339354 missense probably damaging 1.00
R1712:Scn4a UTSW 11 106345547 missense probably benign 0.20
R1721:Scn4a UTSW 11 106320820 missense probably benign 0.31
R1900:Scn4a UTSW 11 106327533 missense probably damaging 1.00
R2057:Scn4a UTSW 11 106335724 missense probably damaging 0.97
R2209:Scn4a UTSW 11 106339225 missense probably damaging 1.00
R3416:Scn4a UTSW 11 106330413 missense probably benign 0.00
R3788:Scn4a UTSW 11 106344274 missense probably damaging 0.96
R3853:Scn4a UTSW 11 106320106 missense possibly damaging 0.94
R3861:Scn4a UTSW 11 106326124 splice site probably benign
R3912:Scn4a UTSW 11 106320716 missense probably damaging 1.00
R3983:Scn4a UTSW 11 106347818 missense probably damaging 1.00
R4036:Scn4a UTSW 11 106322057 missense possibly damaging 0.75
R4358:Scn4a UTSW 11 106348857 intron probably null
R4556:Scn4a UTSW 11 106320446 missense probably benign 0.32
R4677:Scn4a UTSW 11 106323962 missense probably damaging 1.00
R4863:Scn4a UTSW 11 106320002 missense probably damaging 1.00
R4924:Scn4a UTSW 11 106320088 missense possibly damaging 0.83
R5081:Scn4a UTSW 11 106348727 missense probably damaging 0.99
R5298:Scn4a UTSW 11 106339386 missense probably damaging 1.00
R5407:Scn4a UTSW 11 106320889 missense probably damaging 1.00
R5634:Scn4a UTSW 11 106330004 missense probably benign
R6381:Scn4a UTSW 11 106320311 missense probably damaging 1.00
R6468:Scn4a UTSW 11 106345676 missense probably damaging 1.00
R6489:Scn4a UTSW 11 106349180 missense probably benign 0.26
R6549:Scn4a UTSW 11 106343965 missense probably damaging 1.00
R6606:Scn4a UTSW 11 106328073 missense probably benign 0.39
X0012:Scn4a UTSW 11 106330061 missense probably damaging 1.00
X0065:Scn4a UTSW 11 106322178 missense probably damaging 0.98
Posted On2015-04-16