Incidental Mutation 'R0512:Scn4a'
ID 47929
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 038706-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0512 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 106209418-106244114 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106236503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 252 (D252E)
Ref Sequence ENSEMBL: ENSMUSP00000021056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021056]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021056
AA Change: D252E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: D252E

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
Meta Mutation Damage Score 0.2040 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (92/92)
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
4930519G04Rik T G 5: 115,001,569 (GRCm39) M22R probably benign Het
Abca8b C A 11: 109,841,476 (GRCm39) M1039I probably benign Het
Actn2 A T 13: 12,292,301 (GRCm39) I653N probably damaging Het
Actr8 G T 14: 29,700,513 (GRCm39) V31L probably benign Het
Adam30 T C 3: 98,069,441 (GRCm39) C425R probably damaging Het
Armc1 A G 3: 19,203,659 (GRCm39) V89A possibly damaging Het
Atr T C 9: 95,817,579 (GRCm39) M2090T probably damaging Het
Braf T A 6: 39,641,923 (GRCm39) probably benign Het
Cant1 A T 11: 118,302,091 (GRCm39) N75K probably benign Het
Chd7 C T 4: 8,805,139 (GRCm39) probably benign Het
Clec16a A G 16: 10,432,444 (GRCm39) Y488C probably damaging Het
Col6a3 A T 1: 90,749,520 (GRCm39) probably benign Het
Col9a2 T A 4: 120,911,504 (GRCm39) M615K probably benign Het
Dedd G A 1: 171,168,498 (GRCm39) R228H probably damaging Het
Dhtkd1 C T 2: 5,908,902 (GRCm39) D731N probably damaging Het
Ercc2 A G 7: 19,127,812 (GRCm39) T651A probably damaging Het
Fam13a T A 6: 58,933,684 (GRCm39) D302V probably damaging Het
Fam193a T C 5: 34,583,735 (GRCm39) S19P probably damaging Het
Fam43a T C 16: 30,420,553 (GRCm39) V379A possibly damaging Het
Fat1 C A 8: 45,404,369 (GRCm39) Y373* probably null Het
Fbxl15 A C 19: 46,317,861 (GRCm39) D181A probably damaging Het
Flt3 A T 5: 147,278,080 (GRCm39) C831* probably null Het
Foxj3 T A 4: 119,443,033 (GRCm39) probably benign Het
Glul T C 1: 153,781,132 (GRCm39) probably benign Het
Gm16380 A T 9: 53,791,529 (GRCm39) noncoding transcript Het
Gm7964 A T 7: 83,405,158 (GRCm39) noncoding transcript Het
Hipk1 A G 3: 103,667,890 (GRCm39) F559S possibly damaging Het
Hnf4g A T 3: 3,716,682 (GRCm39) I284F probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Icosl A G 10: 77,907,800 (GRCm39) N120S possibly damaging Het
Ift172 A G 5: 31,442,821 (GRCm39) V155A possibly damaging Het
Kdm4c A G 4: 74,252,031 (GRCm39) E426G probably benign Het
Kif23 A G 9: 61,826,257 (GRCm39) probably benign Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lama1 G A 17: 68,086,129 (GRCm39) C1456Y possibly damaging Het
Lamc3 T A 2: 31,827,980 (GRCm39) L1378Q probably damaging Het
Larp1b T A 3: 40,924,469 (GRCm39) L121M probably benign Het
Lepr T A 4: 101,649,216 (GRCm39) D872E probably damaging Het
Lepr A C 4: 101,671,901 (GRCm39) D975A possibly damaging Het
Magi1 A G 6: 93,671,045 (GRCm39) V1068A probably damaging Het
Malt1 T A 18: 65,591,271 (GRCm39) N358K probably damaging Het
Mfap4 T A 11: 61,378,771 (GRCm39) W240R probably damaging Het
Mis18a A G 16: 90,523,244 (GRCm39) V84A possibly damaging Het
Mns1 A G 9: 72,356,753 (GRCm39) E308G possibly damaging Het
Mpp2 C A 11: 101,953,116 (GRCm39) L258F possibly damaging Het
Myh2 A G 11: 67,079,504 (GRCm39) E987G probably damaging Het
Myof A G 19: 37,942,972 (GRCm39) V702A possibly damaging Het
Nhs C A X: 160,620,355 (GRCm39) R1467I probably damaging Het
Nrxn2 A G 19: 6,567,228 (GRCm39) T1360A probably damaging Het
Obox6 A G 7: 15,567,874 (GRCm39) I191T probably benign Het
Pacs2 G T 12: 113,014,547 (GRCm39) R236L probably damaging Het
Pcdhb2 T G 18: 37,429,032 (GRCm39) V335G probably damaging Het
Phyhipl T C 10: 70,404,748 (GRCm39) I140M probably damaging Het
Pkhd1 T C 1: 20,380,738 (GRCm39) probably benign Het
Ppp1r3b T G 8: 35,851,571 (GRCm39) C137G probably damaging Het
Prdm13 T A 4: 21,678,490 (GRCm39) I667F probably damaging Het
Prex2 A G 1: 11,270,157 (GRCm39) M1281V probably benign Het
Rab40b A G 11: 121,250,412 (GRCm39) F81L probably damaging Het
Rb1cc1 T C 1: 6,318,767 (GRCm39) S729P probably damaging Het
Rcl1 A G 19: 29,105,497 (GRCm39) D228G probably damaging Het
Rhbdf1 A T 11: 32,160,875 (GRCm39) C19* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf150 G A 8: 83,590,807 (GRCm39) V57M probably benign Het
Rp9 A G 9: 22,370,015 (GRCm39) F51L probably benign Het
Sav1 A T 12: 70,015,975 (GRCm39) Y274* probably null Het
Scn5a T C 9: 119,379,724 (GRCm39) T187A probably damaging Het
Sigirr T A 7: 140,672,333 (GRCm39) D229V probably benign Het
Slc39a13 T C 2: 90,896,031 (GRCm39) S157G possibly damaging Het
Slc6a20a A G 9: 123,489,471 (GRCm39) S191P probably damaging Het
Sorl1 C A 9: 41,979,128 (GRCm39) A457S probably benign Het
Spag5 A G 11: 78,210,412 (GRCm39) probably benign Het
Spon1 A G 7: 113,436,066 (GRCm39) E119G possibly damaging Het
Spred2 T A 11: 19,958,485 (GRCm39) probably benign Het
Sprr3 T G 3: 92,364,784 (GRCm39) Q20P possibly damaging Het
Strn3 A T 12: 51,673,966 (GRCm39) F464L possibly damaging Het
Sun1 A G 5: 139,220,602 (GRCm39) probably benign Het
Sypl2 A G 3: 108,133,486 (GRCm39) W28R possibly damaging Het
Syt5 A T 7: 4,545,813 (GRCm39) V150D probably damaging Het
Tasor T C 14: 27,168,363 (GRCm39) F302L probably damaging Het
Thsd7a A G 6: 12,379,604 (GRCm39) I940T possibly damaging Het
Tlcd3b C T 7: 126,426,795 (GRCm39) R73C probably damaging Het
Tnrc6a T A 7: 122,785,951 (GRCm39) probably benign Het
Trp53 T A 11: 69,479,509 (GRCm39) L203Q probably damaging Het
Tubgcp4 T C 2: 121,005,900 (GRCm39) V96A probably benign Het
Usp17la A G 7: 104,510,246 (GRCm39) T284A possibly damaging Het
Usp34 T C 11: 23,401,997 (GRCm39) M2409T probably benign Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r56 A G 7: 12,449,350 (GRCm39) I296T probably benign Het
Vmn2r67 A G 7: 84,799,900 (GRCm39) V446A probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp267 T C 3: 36,220,262 (GRCm39) C762R probably 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
R0193:Scn4a UTSW 11 106,211,364 (GRCm39) nonsense probably null
R0410:Scn4a UTSW 11 106,214,775 (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'- TTGCCGTACCAGGTGTCATTGC -3'
(R):5'- TTTCCCAAACACGGTGGCTTCC -3'

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