Incidental Mutation 'R0532:Scn4a'
ID 49271
Institutional Source Beutler Lab
Gene Symbol Scn4a
Ensembl Gene ENSMUSG00000001027
Gene Name sodium channel, voltage-gated, type IV, alpha
Synonyms mH2, SkM1, Nav1.4
MMRRC Submission 038724-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0532 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 106209418-106244114 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106221226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 811 (G811D)
Ref Sequence ENSEMBL: ENSMUSP00000021056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021056]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021056
AA Change: G811D

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: G811D

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
Meta Mutation Damage Score 0.2159 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (90/90)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A T 18: 6,638,618 (GRCm39) E339V possibly damaging Het
9230009I02Rik A T 11: 50,982,405 (GRCm39) noncoding transcript Het
9230112D13Rik A T 14: 34,234,054 (GRCm39) I79K unknown Het
Adam25 C T 8: 41,208,987 (GRCm39) T751I probably benign Het
Adgrv1 C A 13: 81,727,015 (GRCm39) V446L probably damaging Het
Afap1 C A 5: 36,125,944 (GRCm39) A313D possibly damaging Het
Akap6 A G 12: 52,934,766 (GRCm39) T753A probably benign Het
Aldh16a1 G T 7: 44,792,262 (GRCm39) T730N probably damaging Het
Amfr A T 8: 94,725,736 (GRCm39) M215K probably damaging Het
Apob A G 12: 8,066,188 (GRCm39) R4386G possibly damaging Het
Arhgap45 A T 10: 79,857,917 (GRCm39) M217L possibly damaging Het
Baiap2l2 C T 15: 79,168,276 (GRCm39) E49K possibly damaging Het
Baz1a C T 12: 54,981,605 (GRCm39) E350K possibly damaging Het
Bbx A T 16: 50,086,647 (GRCm39) V83D probably damaging Het
Btaf1 T C 19: 36,928,586 (GRCm39) probably benign Het
Cacna2d1 G A 5: 16,567,271 (GRCm39) E942K probably benign Het
Cad T C 5: 31,219,531 (GRCm39) probably benign Het
Ccdc96 A G 5: 36,643,710 (GRCm39) K572R probably benign Het
Cdc5l G A 17: 45,726,610 (GRCm39) R321W probably damaging Het
Cep164 G A 9: 45,721,124 (GRCm39) R93* probably null Het
Cir1 A G 2: 73,140,799 (GRCm39) probably null Het
Crocc A G 4: 140,757,558 (GRCm39) S912P possibly damaging Het
Cwf19l2 T C 9: 3,431,057 (GRCm39) L463P probably benign Het
Cyp3a59 C T 5: 146,033,463 (GRCm39) Q200* probably null Het
Cyp4b1 G T 4: 115,484,073 (GRCm39) P303T probably damaging Het
Dcbld1 C A 10: 52,193,173 (GRCm39) T306K probably benign Het
Dgat2 A G 7: 98,818,988 (GRCm39) V56A possibly damaging Het
Dnajc16 A C 4: 141,516,320 (GRCm39) L16R probably damaging Het
Dnmt1 A C 9: 20,829,852 (GRCm39) probably benign Het
Dus3l A G 17: 57,076,308 (GRCm39) I528V probably damaging Het
Egflam T C 15: 7,263,718 (GRCm39) D744G probably benign Het
Epb41 A C 4: 131,706,106 (GRCm39) probably benign Het
Eri2 C T 7: 119,385,206 (GRCm39) V432I probably benign Het
Esyt2 A G 12: 116,320,818 (GRCm39) probably benign Het
Extl3 A T 14: 65,315,122 (GRCm39) M20K probably benign Het
Fam32a A G 8: 72,976,063 (GRCm39) Y103C probably damaging Het
Fat4 T C 3: 39,035,870 (GRCm39) V3174A probably benign Het
Fbxo40 T A 16: 36,789,984 (GRCm39) E375D possibly damaging Het
Frrs1 A G 3: 116,676,813 (GRCm39) T182A probably benign Het
Fry A G 5: 150,357,172 (GRCm39) probably benign Het
Fry T C 5: 150,402,226 (GRCm39) probably benign Het
Fsip2 A G 2: 82,808,129 (GRCm39) I1483V probably benign Het
Glra3 T A 8: 56,578,111 (GRCm39) D389E probably benign Het
Gpr3 A T 4: 132,937,796 (GRCm39) I292N probably damaging Het
Grina T C 15: 76,133,045 (GRCm39) M230T probably damaging Het
Igkv11-125 G A 6: 67,890,603 (GRCm39) W16* probably null Het
Il18r1 T C 1: 40,514,061 (GRCm39) V89A probably damaging Het
Ino80 T C 2: 119,212,464 (GRCm39) E1286G possibly damaging Het
Iqch G A 9: 63,415,514 (GRCm39) probably benign Het
Itpr2 G T 6: 146,013,898 (GRCm39) Q2666K probably damaging Het
Kcnh3 A G 15: 99,130,844 (GRCm39) D487G probably damaging Het
Kdm1a A G 4: 136,288,377 (GRCm39) L402P probably damaging Het
Klhl10 T G 11: 100,337,937 (GRCm39) probably benign Het
Krt39 T C 11: 99,405,617 (GRCm39) T428A possibly damaging Het
Mapk3 G A 7: 126,362,558 (GRCm39) probably benign Het
Med13l T A 5: 118,897,188 (GRCm39) S2089T possibly damaging Het
Mex3c G A 18: 73,723,124 (GRCm39) D406N possibly damaging Het
Mki67 G A 7: 135,299,893 (GRCm39) R1714* probably null Het
Mmp9 C A 2: 164,791,740 (GRCm39) S211* probably null Het
Nat8f2 G T 6: 85,844,784 (GRCm39) Q193K probably benign Het
Omt2a C A 9: 78,220,187 (GRCm39) A71S possibly damaging Het
Or10ak11 T G 4: 118,686,897 (GRCm39) T247P probably damaging Het
Or5ac22 T C 16: 59,134,964 (GRCm39) K269E probably benign Het
Pdgfra G A 5: 75,331,434 (GRCm39) V315I probably benign Het
Pdgfrb A G 18: 61,216,337 (GRCm39) D1065G probably damaging Het
Pfas A T 11: 68,893,455 (GRCm39) probably benign Het
Pramel5 T C 4: 143,999,310 (GRCm39) E259G probably benign Het
Prpf6 A G 2: 181,264,004 (GRCm39) Y222C possibly damaging Het
Rbck1 C A 2: 152,166,250 (GRCm39) Q229H probably damaging Het
Rdm1 T A 11: 101,526,661 (GRCm39) C278S probably benign Het
Sall1 T C 8: 89,759,819 (GRCm39) D95G probably benign Het
Scn1a T A 2: 66,148,167 (GRCm39) D1126V probably damaging Het
Sh2b1 A G 7: 126,071,444 (GRCm39) I247T probably benign Het
Shprh C A 10: 11,038,556 (GRCm39) T437K possibly damaging Het
Slc13a4 A T 6: 35,264,339 (GRCm39) probably null Het
Slc16a1 C A 3: 104,560,734 (GRCm39) Y346* probably null Het
Slc25a38 G T 9: 119,949,772 (GRCm39) A163S probably damaging Het
Slc6a12 G A 6: 121,333,877 (GRCm39) V238I probably damaging Het
Slc8b1 C A 5: 120,657,736 (GRCm39) D66E probably damaging Het
Snapin A G 3: 90,396,893 (GRCm39) L106P probably damaging Het
Tas2r122 G A 6: 132,688,791 (GRCm39) S34F possibly damaging Het
Tiam2 A G 17: 3,471,921 (GRCm39) K521R probably damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Ttc3 T C 16: 94,188,189 (GRCm39) probably benign Het
Uba1y T C Y: 820,911 (GRCm39) F31L probably benign Het
Ucp3 A G 7: 100,131,186 (GRCm39) probably benign Het
Vcan T C 13: 89,851,891 (GRCm39) E1023G probably damaging Het
Vmn2r45 A G 7: 8,474,820 (GRCm39) I736T probably damaging Het
Vps36 T C 8: 22,708,261 (GRCm39) F342L probably benign Het
Zc3hc1 A G 6: 30,374,929 (GRCm39) probably benign Het
Zmym4 G A 4: 126,792,194 (GRCm39) Q596* probably null Het
Other mutations in Scn4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Scn4a APN 11 106,210,745 (GRCm39) missense probably benign
IGL00846:Scn4a APN 11 106,218,944 (GRCm39) missense probably benign 0.03
IGL01063:Scn4a APN 11 106,221,190 (GRCm39) missense possibly damaging 0.91
IGL01450:Scn4a APN 11 106,215,487 (GRCm39) missense probably damaging 0.99
IGL01922:Scn4a APN 11 106,229,978 (GRCm39) critical splice donor site probably null
IGL02589:Scn4a APN 11 106,218,958 (GRCm39) missense probably benign 0.08
IGL03171:Scn4a APN 11 106,236,418 (GRCm39) missense probably benign 0.01
IGL03338:Scn4a APN 11 106,211,671 (GRCm39) missense probably damaging 1.00
BB004:Scn4a UTSW 11 106,233,209 (GRCm39) missense probably damaging 1.00
BB014:Scn4a UTSW 11 106,233,209 (GRCm39) missense probably damaging 1.00
R0013:Scn4a UTSW 11 106,239,231 (GRCm39) splice site probably benign
R0013:Scn4a UTSW 11 106,239,231 (GRCm39) splice site probably benign
R0025:Scn4a UTSW 11 106,215,386 (GRCm39) missense probably benign 0.39
R0025:Scn4a UTSW 11 106,215,386 (GRCm39) missense probably benign 0.39
R0050:Scn4a UTSW 11 106,211,682 (GRCm39) missense probably damaging 1.00
R0113:Scn4a UTSW 11 106,236,262 (GRCm39) missense probably benign 0.00
R0193:Scn4a UTSW 11 106,211,364 (GRCm39) nonsense probably null
R0410:Scn4a UTSW 11 106,214,775 (GRCm39) missense probably damaging 1.00
R0512:Scn4a UTSW 11 106,236,503 (GRCm39) missense probably damaging 1.00
R1112:Scn4a UTSW 11 106,211,292 (GRCm39) missense probably damaging 1.00
R1279:Scn4a UTSW 11 106,226,508 (GRCm39) missense probably damaging 1.00
R1564:Scn4a UTSW 11 106,236,367 (GRCm39) missense probably benign
R1712:Scn4a UTSW 11 106,236,373 (GRCm39) missense probably benign 0.20
R1712:Scn4a UTSW 11 106,230,180 (GRCm39) missense probably damaging 1.00
R1721:Scn4a UTSW 11 106,211,646 (GRCm39) missense probably benign 0.31
R1900:Scn4a UTSW 11 106,218,359 (GRCm39) missense probably damaging 1.00
R2057:Scn4a UTSW 11 106,226,550 (GRCm39) missense probably damaging 0.97
R2209:Scn4a UTSW 11 106,230,051 (GRCm39) missense probably damaging 1.00
R3416:Scn4a UTSW 11 106,221,239 (GRCm39) missense probably benign 0.00
R3788:Scn4a UTSW 11 106,235,100 (GRCm39) missense probably damaging 0.96
R3853:Scn4a UTSW 11 106,210,932 (GRCm39) missense possibly damaging 0.94
R3861:Scn4a UTSW 11 106,216,950 (GRCm39) splice site probably benign
R3912:Scn4a UTSW 11 106,211,542 (GRCm39) missense probably damaging 1.00
R3983:Scn4a UTSW 11 106,238,644 (GRCm39) missense probably damaging 1.00
R4036:Scn4a UTSW 11 106,212,883 (GRCm39) missense possibly damaging 0.75
R4358:Scn4a UTSW 11 106,239,683 (GRCm39) splice site probably null
R4556:Scn4a UTSW 11 106,211,272 (GRCm39) missense probably benign 0.32
R4677:Scn4a UTSW 11 106,214,788 (GRCm39) missense probably damaging 1.00
R4863:Scn4a UTSW 11 106,210,828 (GRCm39) missense probably damaging 1.00
R4924:Scn4a UTSW 11 106,210,914 (GRCm39) missense possibly damaging 0.83
R5081:Scn4a UTSW 11 106,239,553 (GRCm39) missense probably damaging 0.99
R5298:Scn4a UTSW 11 106,230,212 (GRCm39) missense probably damaging 1.00
R5407:Scn4a UTSW 11 106,211,715 (GRCm39) missense probably damaging 1.00
R5634:Scn4a UTSW 11 106,220,830 (GRCm39) missense probably benign
R6381:Scn4a UTSW 11 106,211,137 (GRCm39) missense probably damaging 1.00
R6468:Scn4a UTSW 11 106,236,502 (GRCm39) missense probably damaging 1.00
R6489:Scn4a UTSW 11 106,240,006 (GRCm39) missense probably benign 0.26
R6549:Scn4a UTSW 11 106,234,791 (GRCm39) missense probably damaging 1.00
R6606:Scn4a UTSW 11 106,218,899 (GRCm39) missense probably benign 0.39
R7037:Scn4a UTSW 11 106,211,726 (GRCm39) missense probably damaging 0.98
R7064:Scn4a UTSW 11 106,212,983 (GRCm39) missense possibly damaging 0.93
R7182:Scn4a UTSW 11 106,221,134 (GRCm39) missense probably benign 0.21
R7194:Scn4a UTSW 11 106,215,062 (GRCm39) missense probably benign 0.32
R7531:Scn4a UTSW 11 106,239,523 (GRCm39) splice site probably null
R7552:Scn4a UTSW 11 106,239,995 (GRCm39) missense probably benign 0.22
R7570:Scn4a UTSW 11 106,211,299 (GRCm39) missense possibly damaging 0.54
R7635:Scn4a UTSW 11 106,215,458 (GRCm39) missense probably damaging 1.00
R7823:Scn4a UTSW 11 106,233,334 (GRCm39) missense probably damaging 1.00
R7832:Scn4a UTSW 11 106,212,841 (GRCm39) missense probably benign 0.01
R7927:Scn4a UTSW 11 106,233,209 (GRCm39) missense probably damaging 1.00
R8122:Scn4a UTSW 11 106,221,157 (GRCm39) missense probably benign 0.02
R8131:Scn4a UTSW 11 106,232,367 (GRCm39) missense probably benign
R9093:Scn4a UTSW 11 106,210,638 (GRCm39) missense probably benign
R9099:Scn4a UTSW 11 106,211,000 (GRCm39) missense probably damaging 1.00
R9137:Scn4a UTSW 11 106,214,736 (GRCm39) missense probably damaging 1.00
R9163:Scn4a UTSW 11 106,217,076 (GRCm39) missense probably damaging 1.00
R9255:Scn4a UTSW 11 106,215,054 (GRCm39) missense probably damaging 0.99
R9627:Scn4a UTSW 11 106,212,839 (GRCm39) missense probably benign
R9780:Scn4a UTSW 11 106,226,235 (GRCm39) missense probably damaging 1.00
X0012:Scn4a UTSW 11 106,220,887 (GRCm39) missense probably damaging 1.00
X0065:Scn4a UTSW 11 106,213,004 (GRCm39) missense probably damaging 0.98
Z1176:Scn4a UTSW 11 106,232,356 (GRCm39) missense probably damaging 0.97
Z1176:Scn4a UTSW 11 106,232,355 (GRCm39) missense probably benign 0.26
Z1176:Scn4a UTSW 11 106,212,734 (GRCm39) missense probably null 0.29
Z1177:Scn4a UTSW 11 106,232,368 (GRCm39) missense probably benign
Z1177:Scn4a UTSW 11 106,221,034 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- AAGGTGTCAGTCTCCTCCTCTGTG -3'
(R):5'- AGTCCTGAGGACCCCATGATGAATG -3'

Sequencing Primer
(F):5'- GGCATTTCCAAGTCGGACTC -3'
(R):5'- TGAATGAAGGTGGTATCCCCC -3'
Posted On 2013-06-12