Incidental Mutation 'R0193:Scn4a'
ID 23241
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 038452-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0193 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 106209418-106244114 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 106211364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 1551 (L1551*)
Ref Sequence ENSEMBL: ENSMUSP00000021056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021056]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000021056
AA Change: L1551*
SMART Domains Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: L1551*

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 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 94.7%
  • 20x: 85.3%
Validation Efficiency 95% (186/196)
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
Adgrb1 T C 15: 74,444,005 (GRCm39) S96P probably damaging Het
Akr1c20 A G 13: 4,561,292 (GRCm39) probably benign Het
Atp2a3 G T 11: 72,863,046 (GRCm39) V99L possibly damaging Het
Atp6v0a1 T A 11: 100,939,308 (GRCm39) I691N possibly damaging Het
Atp8b1 C T 18: 64,694,707 (GRCm39) R525Q probably benign Het
Aurkb A G 11: 68,939,370 (GRCm39) D151G probably damaging Het
Bank1 A T 3: 135,772,279 (GRCm39) probably benign Het
Bcl9l T C 9: 44,418,703 (GRCm39) L847P probably damaging Het
Bscl2 T A 19: 8,824,793 (GRCm39) M292K probably benign Het
Cacna1c C T 6: 118,579,363 (GRCm39) probably benign Het
Cadps2 T C 6: 23,599,439 (GRCm39) K260R probably benign Het
Cc2d2a T C 5: 43,893,460 (GRCm39) S1419P probably damaging Het
Ccdc180 G A 4: 45,914,803 (GRCm39) E145K probably benign Het
Ccno C T 13: 113,125,418 (GRCm39) probably benign Het
Cd300a A G 11: 114,784,202 (GRCm39) D70G probably benign Het
Cenpc1 T C 5: 86,180,262 (GRCm39) D670G probably benign Het
Cenpl A G 1: 160,913,558 (GRCm39) I323V probably damaging Het
Cfap44 A G 16: 44,269,573 (GRCm39) probably null Het
Cfap74 C T 4: 155,510,572 (GRCm39) R386C probably benign Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Clcnkb T C 4: 141,139,627 (GRCm39) E125G possibly damaging Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Coro7 G A 16: 4,445,368 (GRCm39) probably benign Het
Dchs1 C T 7: 105,414,190 (GRCm39) R875H probably benign Het
Eif3j1 A C 2: 121,882,508 (GRCm39) M239L probably benign Het
Eif4g3 G T 4: 137,873,687 (GRCm39) probably benign Het
Elapor2 A T 5: 9,472,359 (GRCm39) Q352L probably damaging Het
Erbb4 T C 1: 68,083,119 (GRCm39) probably benign Het
Erlin2 T G 8: 27,521,792 (GRCm39) V164G possibly damaging Het
Fbxo43 G T 15: 36,162,029 (GRCm39) Q393K probably benign Het
Fcgr4 A T 1: 170,853,329 (GRCm39) N178I possibly damaging Het
Grid2 A G 6: 64,040,937 (GRCm39) N293S possibly damaging Het
H2-M1 C T 17: 36,982,224 (GRCm39) V126I probably benign Het
Htr1f T A 16: 64,747,112 (GRCm39) Y60F probably damaging Het
Ilf2 A G 3: 90,388,646 (GRCm39) probably null Het
Impg2 A T 16: 56,085,412 (GRCm39) K931* probably null Het
Ints1 T C 5: 139,737,485 (GRCm39) E2176G probably damaging Het
Iqsec2 T C X: 151,006,399 (GRCm39) V1319A probably benign Het
Iqsec3 G T 6: 121,387,683 (GRCm39) D685E probably damaging Het
Itgbl1 G A 14: 124,083,958 (GRCm39) V279I probably benign Het
Kdm4b C T 17: 56,700,952 (GRCm39) A541V probably benign Het
Kif14 A T 1: 136,396,176 (GRCm39) T161S probably benign Het
Krt86 T C 15: 101,377,244 (GRCm39) probably benign Het
Kyat1 C T 2: 30,077,198 (GRCm39) probably null Het
Limch1 T C 5: 67,184,882 (GRCm39) W791R probably damaging Het
Map3k11 T A 19: 5,745,874 (GRCm39) M396K probably damaging Het
Mat2a A G 6: 72,413,178 (GRCm39) probably null Het
Mbnl2 A G 14: 120,616,649 (GRCm39) I88V possibly damaging Het
Mib2 T C 4: 155,740,130 (GRCm39) T708A probably benign Het
Mix23 T C 16: 35,903,184 (GRCm39) S59P probably damaging Het
Mkks T C 2: 136,719,526 (GRCm39) probably null Het
Mtss1 T C 15: 58,815,866 (GRCm39) M565V probably damaging Het
Myoc A G 1: 162,476,604 (GRCm39) N436S probably damaging Het
Myod1 T A 7: 46,026,536 (GRCm39) V147E probably damaging Het
Ngef A G 1: 87,437,056 (GRCm39) L144P probably benign Het
Ngrn C T 7: 79,911,678 (GRCm39) R92W probably damaging Het
Nup153 G A 13: 46,863,130 (GRCm39) T349I probably benign Het
Or4c15 T A 2: 88,760,627 (GRCm39) I11L probably benign Het
Or52ad1 G T 7: 102,995,411 (GRCm39) S241R possibly damaging Het
Pigl A G 11: 62,394,574 (GRCm39) I135M probably damaging Het
Pitpnm3 A G 11: 71,961,318 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,429,141 (GRCm39) F2420I probably damaging Het
Polr2b C T 5: 77,467,923 (GRCm39) T119M probably damaging Het
Prr29 A G 11: 106,267,722 (GRCm39) Y130C probably damaging Het
Rab11fip3 T C 17: 26,209,973 (GRCm39) I1048V probably damaging Het
Rab12 G A 17: 66,807,357 (GRCm39) T124I probably damaging Het
Rab44 A G 17: 29,359,281 (GRCm39) S490G probably benign Het
Rasa3 A G 8: 13,620,233 (GRCm39) probably null Het
Rhbdl3 C T 11: 80,244,400 (GRCm39) S369L possibly damaging Het
Rimbp2 A T 5: 128,865,420 (GRCm39) S643T probably benign Het
Rin1 T G 19: 5,102,680 (GRCm39) S396R probably damaging Het
Rpusd3 C T 6: 113,396,198 (GRCm39) G28S probably damaging Het
Rtl9 T A X: 141,883,274 (GRCm39) S229T probably damaging Het
Rufy1 G T 11: 50,280,679 (GRCm39) T701N probably benign Het
Sec24b T C 3: 129,782,633 (GRCm39) N1119S probably null Het
Serbp1 T A 6: 67,249,868 (GRCm39) *75R probably null Het
Setx C T 2: 29,069,685 (GRCm39) P2497S probably benign Het
Slc26a11 A T 11: 119,250,140 (GRCm39) I132F probably damaging Het
Slc4a1 A G 11: 102,243,510 (GRCm39) V707A possibly damaging Het
Slfn1 A G 11: 83,012,669 (GRCm39) I262V probably damaging Het
Tmem168 T A 6: 13,583,312 (GRCm39) D523V possibly damaging Het
Traf7 G T 17: 24,729,525 (GRCm39) Q469K probably benign Het
Trdmt1 C A 2: 13,549,428 (GRCm39) V6F probably damaging Het
Tsacc A T 3: 88,194,395 (GRCm39) probably benign Het
Vmn2r5 A G 3: 64,398,951 (GRCm39) I589T possibly damaging Het
Vmn2r7 T C 3: 64,598,460 (GRCm39) D699G probably damaging Het
Vmn2r82 T C 10: 79,217,129 (GRCm39) V487A probably damaging Het
Zbtb47 T C 9: 121,596,732 (GRCm39) V696A probably damaging Het
Zfp287 A T 11: 62,605,855 (GRCm39) S351T probably benign Het
Zfp654 T C 16: 64,606,051 (GRCm39) H176R possibly damaging 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
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
R0532:Scn4a UTSW 11 106,221,226 (GRCm39) missense probably benign 0.45
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'- GAGCATCCATTTCCCCAGAGTCAC -3'
(R):5'- TACGTCAAGAAAGAGTCGGGCATCG -3'

Sequencing Primer
(F):5'- GGCAATTTTCAAGGGCTCC -3'
(R):5'- GCATCGACGACATGTTCAAC -3'
Posted On 2013-04-16