Incidental Mutation 'R1712:Scn4a'
ID 190700
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 039745-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1712 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 106209418-106244114 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106236373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 296 (G296C)
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: G296C

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: G296C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174877
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T A 2: 93,678,448 (GRCm39) E12D probably damaging Het
Ahnak2 C A 12: 112,748,998 (GRCm39) R283L probably benign Het
BC005624 T C 2: 30,864,020 (GRCm39) E191G probably damaging Het
C1galt1 A G 6: 7,871,217 (GRCm39) N351S probably benign Het
Ccdc162 T C 10: 41,415,427 (GRCm39) R2179G probably benign Het
Ccdc88c G A 12: 100,905,284 (GRCm39) T1108M probably benign Het
Cd47 T C 16: 49,714,543 (GRCm39) L184P probably damaging Het
Cdc40 T C 10: 40,717,372 (GRCm39) K440E probably damaging Het
Cenpe G A 3: 134,971,694 (GRCm39) V2262I probably damaging Het
Cep290 A G 10: 100,390,361 (GRCm39) K2035E probably benign Het
Cks1brt G T 8: 85,898,172 (GRCm39) L8F probably benign Het
Col17a1 T C 19: 47,637,442 (GRCm39) probably benign Het
Coro6 A T 11: 77,360,293 (GRCm39) N421I probably benign Het
Cps1 T C 1: 67,269,440 (GRCm39) S1480P probably damaging Het
Csrnp3 G T 2: 65,832,826 (GRCm39) A110S probably damaging Het
Cyp2d10 G T 15: 82,287,240 (GRCm39) T461K probably damaging Het
Dmxl2 A G 9: 54,308,769 (GRCm39) V1994A probably benign Het
Dnah11 T A 12: 118,160,379 (GRCm39) N117I probably benign Het
Dnajc3 A G 14: 119,195,307 (GRCm39) Y74C probably damaging Het
Fam13c T A 10: 70,390,403 (GRCm39) F555I possibly damaging Het
Fbn1 T A 2: 125,188,354 (GRCm39) D1495V probably damaging Het
Fbrsl1 T C 5: 110,595,862 (GRCm39) T58A probably benign Het
Gjd3 A G 11: 102,691,706 (GRCm39) I99T possibly damaging Het
Glce T C 9: 61,977,857 (GRCm39) N9S probably damaging Het
Gosr1 T C 11: 76,641,704 (GRCm39) T125A possibly damaging Het
Ifi27l2a T A 12: 103,406,202 (GRCm39) probably null Het
Jph1 C T 1: 17,167,456 (GRCm39) D125N possibly damaging Het
Kbtbd12 A T 6: 88,595,676 (GRCm39) S51R probably damaging Het
Klra9 A T 6: 130,166,659 (GRCm39) probably null Het
Kmo A T 1: 175,484,289 (GRCm39) M340L probably benign Het
Lama1 T C 17: 68,024,181 (GRCm39) I93T possibly damaging Het
Limk2 A T 11: 3,308,104 (GRCm39) probably null Het
Mgat5 C A 1: 127,248,375 (GRCm39) N92K probably benign Het
Mib2 T A 4: 155,739,256 (GRCm39) I908F probably damaging Het
Mical1 T G 10: 41,356,359 (GRCm39) L304R probably damaging Het
Mtbp G T 15: 55,434,690 (GRCm39) probably null Het
Myo3a T C 2: 22,455,004 (GRCm39) Y70H probably damaging Het
Neb T C 2: 52,133,401 (GRCm39) Y3379C probably damaging Het
Neurod2 G T 11: 98,218,029 (GRCm39) N378K probably damaging Het
Oog4 G A 4: 143,166,484 (GRCm39) L107F probably damaging Het
Or2g25 A G 17: 37,970,799 (GRCm39) S142P probably benign Het
Or4k40 T A 2: 111,251,003 (GRCm39) M98L probably benign Het
Or6x1 A G 9: 40,099,161 (GRCm39) Y250C probably damaging Het
Or8k20 T A 2: 86,106,337 (GRCm39) T165S probably damaging Het
Pfdn6 T C 17: 34,158,528 (GRCm39) Y82C probably damaging Het
Pla2g4d C A 2: 120,107,971 (GRCm39) A313S possibly damaging Het
Ptcd3 C A 6: 71,885,637 (GRCm39) E30* probably null Het
Rai1 A G 11: 60,078,428 (GRCm39) T831A probably benign Het
Rims1 G A 1: 22,367,172 (GRCm39) T1176M probably damaging Het
Rin1 A C 19: 5,105,171 (GRCm39) I744L probably benign Het
Rora T A 9: 69,282,771 (GRCm39) S430T probably benign Het
Rsph10b T A 5: 143,873,967 (GRCm39) S23T probably damaging Het
Ryr1 T C 7: 28,746,928 (GRCm39) N3773S probably benign Het
Scn7a T C 2: 66,535,447 (GRCm39) T435A probably benign Het
Shank2 G T 7: 143,964,890 (GRCm39) D833Y probably damaging Het
Slc9a2 T C 1: 40,802,770 (GRCm39) S607P possibly damaging Het
Slx4 G A 16: 3,809,458 (GRCm39) R346W probably damaging Het
Spata20 A T 11: 94,371,340 (GRCm39) C675S probably benign Het
Suclg2 A T 6: 95,563,997 (GRCm39) I196N probably damaging Het
Sv2b G A 7: 74,798,807 (GRCm39) H272Y possibly damaging Het
Svep1 T C 4: 58,070,629 (GRCm39) I2386V probably benign Het
Taf13 A T 3: 108,488,445 (GRCm39) E109D possibly damaging Het
Tanc2 A G 11: 105,790,606 (GRCm39) T976A probably benign Het
Tax1bp1 A G 6: 52,706,311 (GRCm39) Y104C probably damaging Het
Tfeb T C 17: 48,099,911 (GRCm39) probably null Het
Tlr9 T C 9: 106,101,248 (GRCm39) Y180H probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttc12 T A 9: 49,356,499 (GRCm39) T510S probably benign Het
Ubqln1 T C 13: 58,339,895 (GRCm39) E280G probably damaging Het
Urm1 T C 2: 29,731,437 (GRCm39) W44R probably damaging Het
Usp32 A T 11: 84,933,406 (GRCm39) I34N probably benign Het
Vars1 T C 17: 35,233,728 (GRCm39) L1018P probably damaging Het
Vcan A T 13: 89,869,894 (GRCm39) V206D probably damaging Het
Vim T C 2: 13,583,270 (GRCm39) V224A probably damaging Het
Vmn2r106 G T 17: 20,498,997 (GRCm39) H305N probably benign Het
Vmn2r78 A G 7: 86,604,132 (GRCm39) N770S probably damaging Het
Wdr33 T A 18: 32,029,684 (GRCm39) L961Q unknown Het
Xylt2 A G 11: 94,559,575 (GRCm39) S356P possibly damaging Het
Zbtb14 A G 17: 69,694,575 (GRCm39) N91S probably damaging Het
Zc3h6 T C 2: 128,858,654 (GRCm39) L895S probably damaging Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zfp131 T C 13: 120,228,079 (GRCm39) T523A probably benign 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
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 11 106,230,180 (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'- TCATGGCTGAGAGACCTGCTAGAG -3'
(R):5'- CACAGTGAGATGAGGGACGGTTTTG -3'

Sequencing Primer
(F):5'- TGTCTTCTCTGAAGAAGCAGC -3'
(R):5'- GCAGCCCATTGGATCTTAGAG -3'
Posted On 2014-05-14