Incidental Mutation 'IGL03338:Scn4a'
ID417115
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 #IGL03338
Quality Score
Status
Chromosome11
Chromosomal Location106318592-106353288 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 106320845 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1449 (I1449F)
Ref Sequence ENSEMBL: ENSMUSP00000021056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021056]
Predicted Effect probably damaging
Transcript: ENSMUST00000021056
AA Change: I1449F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: I1449F

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,694,153 V260M probably damaging Het
Accsl T A 2: 93,855,747 H575L probably benign Het
Armc3 A T 2: 19,248,701 I218F possibly damaging Het
Bora C A 14: 99,072,742 N502K probably damaging Het
Brd4 T A 17: 32,213,072 D606V probably damaging Het
Ccdc190 T A 1: 169,929,975 M1K probably null Het
Ccl25 T C 8: 4,349,898 probably benign Het
Cep78 G T 19: 15,959,623 T573K probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cntn4 C T 6: 106,655,589 H525Y probably damaging Het
D630039A03Rik T C 4: 57,910,509 E101G probably benign Het
Dnah2 A G 11: 69,496,577 V941A probably benign Het
Exoc6b A G 6: 84,844,130 I559T probably damaging Het
Fmr1 T C X: 68,688,336 probably null Het
Ghr A T 15: 3,347,542 C66S probably damaging Het
Gm13078 T C 4: 143,726,742 I140T probably benign Het
Gm13101 T C 4: 143,965,841 I197V probably benign Het
Gm13101 T A 4: 143,966,038 Q131L probably benign Het
Hook1 C A 4: 95,998,692 probably benign Het
Igsf1 T C X: 49,787,499 T73A probably benign Het
Ipo8 T C 6: 148,800,257 K451R probably benign Het
Irs1 A G 1: 82,288,401 V698A probably benign Het
Kat2a T C 11: 100,711,475 D151G probably benign Het
Lyrm1 A T 7: 119,914,246 Q78L probably benign Het
Madd C T 2: 91,162,162 G1012E possibly damaging Het
Mboat1 T A 13: 30,136,759 D31E probably benign Het
Myh8 C A 11: 67,298,346 A1116D probably damaging Het
Nop2 G A 6: 125,139,732 probably null Het
Notch1 A G 2: 26,459,959 S2390P probably benign Het
Olfr1122 T G 2: 87,388,126 N140K probably benign Het
Olfr619 T A 7: 103,604,408 C251* probably null Het
Olfr792 A G 10: 129,541,056 D173G probably damaging Het
Pigg T C 5: 108,319,950 S272P probably damaging Het
Plg A G 17: 12,419,072 Y795C probably damaging Het
Polr3e A G 7: 120,937,620 K335R probably benign Het
Pramef12 T A 4: 144,394,827 Y209F probably benign Het
Prdm4 A T 10: 85,907,821 M190K possibly damaging Het
Prex2 T A 1: 11,140,265 F597L probably benign Het
Ranbp3l A G 15: 9,060,859 E403G probably damaging Het
Rgmb C T 17: 15,807,303 A385T possibly damaging Het
Slc17a9 T C 2: 180,740,518 probably benign Het
Slc26a2 T C 18: 61,198,902 I486V probably damaging Het
Sntn A T 14: 13,678,991 D55V probably damaging Het
Snx25 T A 8: 46,045,210 R595S probably benign Het
Spag11b C T 8: 19,141,410 T33I probably damaging Het
Sval2 A G 6: 41,864,247 I81M probably damaging Het
Tab2 A G 10: 7,919,275 V481A probably damaging Het
Zfp867 G A 11: 59,464,177 Q109* probably null Het
Zfp935 T C 13: 62,454,433 T318A probably benign 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
IGL02589:Scn4a APN 11 106328132 missense probably benign 0.08
IGL03171:Scn4a APN 11 106345592 missense probably benign 0.01
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
R7037:Scn4a UTSW 11 106320900 missense probably damaging 0.98
R7064:Scn4a UTSW 11 106322157 missense possibly damaging 0.93
R7182:Scn4a UTSW 11 106330308 missense probably benign 0.21
R7194:Scn4a UTSW 11 106324236 missense probably benign 0.32
X0012:Scn4a UTSW 11 106330061 missense probably damaging 1.00
X0065:Scn4a UTSW 11 106322178 missense probably damaging 0.98
Posted On2016-08-02