Incidental Mutation 'R0538:Scn8a'
ID 49636
Institutional Source Beutler Lab
Gene Symbol Scn8a
Ensembl Gene ENSMUSG00000023033
Gene Name sodium channel, voltage-gated, type VIII, alpha
Synonyms nmf335, nmf58, NMF335, C630029C19Rik, nur14, mnd2, seal, mnd-2, nmf2, med, ataxia 3, NaCh6, Nav1.6, motor end-plate disease
MMRRC Submission 038730-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.790) question?
Stock # R0538 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 100767739-100943819 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 100933505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 1570 (K1570*)
Ref Sequence ENSEMBL: ENSMUSP00000144013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082209] [ENSMUST00000108908] [ENSMUST00000108909] [ENSMUST00000108910] [ENSMUST00000200963] [ENSMUST00000201549]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000082209
AA Change: K1570*
SMART Domains Protein: ENSMUSP00000080842
Gene: ENSMUSG00000023033
AA Change: K1570*

DomainStartEndE-ValueType
Pfam:Ion_trans 131 422 7.4e-82 PFAM
low complexity region 423 452 N/A INTRINSIC
Pfam:Na_trans_cytopl 499 700 3.5e-72 PFAM
low complexity region 701 712 N/A INTRINSIC
Pfam:Ion_trans 750 985 2.2e-57 PFAM
Pfam:Na_trans_assoc 989 1191 2e-59 PFAM
Pfam:Ion_trans 1195 1472 6.2e-69 PFAM
Pfam:Ion_trans 1519 1775 1.2e-56 PFAM
IQ 1892 1914 1.2e-4 SMART
low complexity region 1953 1972 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000108908
AA Change: K1570*
SMART Domains Protein: ENSMUSP00000104536
Gene: ENSMUSG00000023033
AA Change: K1570*

DomainStartEndE-ValueType
Pfam:Ion_trans 72 322 1.9e-76 PFAM
low complexity region 367 378 N/A INTRINSIC
Pfam:Ion_trans 451 640 1.1e-47 PFAM
Pfam:Na_trans_assoc 655 872 1.9e-71 PFAM
Pfam:Ion_trans 898 1127 4.4e-59 PFAM
PDB:1BYY|A 1129 1181 7e-30 PDB
Pfam:Ion_trans 1220 1429 1.9e-51 PFAM
Pfam:PKD_channel 1281 1436 5.6e-7 PFAM
IQ 1558 1580 1.2e-4 SMART
low complexity region 1619 1638 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000108909
AA Change: K1580*
SMART Domains Protein: ENSMUSP00000104537
Gene: ENSMUSG00000023033
AA Change: K1580*

DomainStartEndE-ValueType
Pfam:Ion_trans 72 322 2.2e-76 PFAM
low complexity region 335 364 N/A INTRINSIC
Pfam:DUF3451 390 616 8.7e-70 PFAM
Pfam:Ion_trans 697 886 1.3e-47 PFAM
Pfam:Na_trans_assoc 901 1118 2.3e-71 PFAM
Pfam:Ion_trans 1144 1186 9.7e-10 PFAM
Pfam:Ion_trans 1182 1332 1.7e-31 PFAM
PDB:1BYY|A 1334 1386 2e-29 PDB
Pfam:Ion_trans 1425 1634 2.3e-51 PFAM
Pfam:PKD_channel 1486 1641 6.6e-7 PFAM
IQ 1763 1785 1.2e-4 SMART
low complexity region 1824 1843 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000108910
AA Change: K1570*
SMART Domains Protein: ENSMUSP00000104538
Gene: ENSMUSG00000023033
AA Change: K1570*

DomainStartEndE-ValueType
Pfam:Ion_trans 160 410 2.5e-76 PFAM
low complexity region 423 452 N/A INTRINSIC
Pfam:DUF3451 478 704 9.6e-70 PFAM
Pfam:Ion_trans 785 974 1.4e-47 PFAM
Pfam:Na_trans_assoc 989 1206 2.5e-71 PFAM
Pfam:Ion_trans 1232 1461 5.7e-59 PFAM
PDB:1BYY|A 1463 1515 4e-29 PDB
Pfam:Ion_trans 1554 1763 2.5e-51 PFAM
Pfam:PKD_channel 1615 1770 7.1e-7 PFAM
IQ 1892 1914 1.2e-4 SMART
low complexity region 1953 1972 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000200963
AA Change: K1529*
SMART Domains Protein: ENSMUSP00000144371
Gene: ENSMUSG00000023033
AA Change: K1529*

DomainStartEndE-ValueType
Pfam:Ion_trans 131 422 4.1e-80 PFAM
low complexity region 423 452 N/A INTRINSIC
Pfam:Na_trans_cytopl 499 700 2.5e-69 PFAM
low complexity region 701 712 N/A INTRINSIC
Pfam:Ion_trans 750 985 1.2e-55 PFAM
Pfam:Na_trans_assoc 989 1191 9.1e-57 PFAM
Pfam:Ion_trans 1195 1274 7.6e-16 PFAM
Pfam:Ion_trans 1270 1431 2.6e-33 PFAM
Pfam:Ion_trans 1478 1734 6.5e-55 PFAM
IQ 1851 1873 6e-7 SMART
low complexity region 1912 1931 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000201549
AA Change: K1570*
SMART Domains Protein: ENSMUSP00000144013
Gene: ENSMUSG00000023033
AA Change: K1570*

DomainStartEndE-ValueType
Pfam:Ion_trans 131 422 7.4e-82 PFAM
low complexity region 423 452 N/A INTRINSIC
Pfam:Na_trans_cytopl 499 700 3.5e-72 PFAM
low complexity region 701 712 N/A INTRINSIC
Pfam:Ion_trans 750 985 2.2e-57 PFAM
Pfam:Na_trans_assoc 989 1191 2e-59 PFAM
Pfam:Ion_trans 1195 1472 6.2e-69 PFAM
Pfam:Ion_trans 1519 1775 1.2e-56 PFAM
IQ 1892 1914 1.2e-4 SMART
low complexity region 1953 1972 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
Validation Efficiency 98% (126/129)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Spontaneous mutant homozygotes have ataxia, dystonia, muscular atrophy, progressive paralysis, Purkinje cell loss, in some cases severe head-tossing and for severe alleles, juvenile lethality. A mild, semidominant ENU allele causes deafness of variable penetrance and severity and mild tremor. [provided by MGI curators]
Allele List at MGI

 All alleles(22) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(6) Transgenic(1) Spontaneous(5) Chemically induced(8)

Other mutations in this stock
Total: 129 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I07Rik A T 14: 67,175,823 (GRCm39) H6L unknown Het
Abca13 G A 11: 9,217,622 (GRCm39) probably null Het
Acad12 C T 5: 121,745,511 (GRCm39) R260Q possibly damaging Het
Actn1 G A 12: 80,306,874 (GRCm39) probably benign Het
Acvrl1 A G 15: 101,034,030 (GRCm39) T182A probably damaging Het
Adam23 T C 1: 63,607,003 (GRCm39) probably benign Het
Adamtsl1 A T 4: 86,261,358 (GRCm39) T1190S probably benign Het
Adh6b A T 3: 138,063,411 (GRCm39) Y330F probably benign Het
Ak7 A G 12: 105,732,876 (GRCm39) E540G probably damaging Het
Akr1c19 T A 13: 4,287,099 (GRCm39) L106Q probably damaging Het
Ankrd12 A T 17: 66,356,847 (GRCm39) S57T probably damaging Het
Aoc3 G A 11: 101,222,964 (GRCm39) R400Q possibly damaging Het
Arel1 A T 12: 84,988,611 (GRCm39) I46N probably damaging Het
Armc5 A G 7: 127,843,463 (GRCm39) D752G probably damaging Het
Atp11b T C 3: 35,891,163 (GRCm39) V812A probably damaging Het
Axin1 A G 17: 26,403,215 (GRCm39) H131R possibly damaging Het
Bpifb3 A G 2: 153,765,789 (GRCm39) E184G probably benign Het
Cacna2d2 T C 9: 107,401,582 (GRCm39) probably benign Het
Catsperd T C 17: 56,969,828 (GRCm39) F641L probably benign Het
Ccdc83 A C 7: 89,877,591 (GRCm39) L284V probably damaging Het
Ccn2 T A 10: 24,472,364 (GRCm39) C136S probably damaging Het
Ccnt2 T A 1: 127,730,902 (GRCm39) V593E probably damaging Het
Cd53 T A 3: 106,669,444 (GRCm39) I185F probably benign Het
Cep350 A T 1: 155,724,366 (GRCm39) D3077E possibly damaging Het
Ces1h C A 8: 94,083,628 (GRCm39) probably null Het
Chrna3 T A 9: 54,923,290 (GRCm39) T173S probably benign Het
Clca4b T C 3: 144,627,717 (GRCm39) D418G probably benign Het
Col11a2 T C 17: 34,270,302 (GRCm39) probably benign Het
Coq2 T A 5: 100,815,889 (GRCm39) I97F possibly damaging Het
Cr2 A G 1: 194,842,667 (GRCm39) probably benign Het
D2hgdh A G 1: 93,754,099 (GRCm39) Y24C probably damaging Het
D630045J12Rik G A 6: 38,168,628 (GRCm39) R974C probably damaging Het
Dach1 A G 14: 98,140,715 (GRCm39) V429A possibly damaging Het
Ddr1 G A 17: 35,995,899 (GRCm39) T660I probably damaging Het
Dlg1 A C 16: 31,615,682 (GRCm39) probably null Het
Dmbt1 T C 7: 130,651,631 (GRCm39) probably benign Het
Dmxl2 A T 9: 54,301,120 (GRCm39) D2330E probably benign Het
Dnai4 T C 4: 102,953,815 (GRCm39) N128S possibly damaging Het
Doc2a A G 7: 126,447,983 (GRCm39) T5A probably benign Het
Dock2 G A 11: 34,595,545 (GRCm39) probably benign Het
Dok4 T A 8: 95,591,866 (GRCm39) Y290F probably damaging Het
Dop1a A G 9: 86,367,550 (GRCm39) D11G probably damaging Het
E230025N22Rik T C 18: 36,821,987 (GRCm39) H235R probably benign Het
Ear6 A G 14: 52,091,909 (GRCm39) D152G probably damaging Het
Ecscr T A 18: 35,846,689 (GRCm39) probably benign Het
Eml6 A T 11: 29,710,010 (GRCm39) probably benign Het
Epha4 T A 1: 77,365,178 (GRCm39) Q607L probably damaging Het
Exoc4 A G 6: 33,948,998 (GRCm39) N947S probably benign Het
Flg A G 3: 93,186,767 (GRCm39) E73G probably damaging Het
Fndc1 C T 17: 8,003,173 (GRCm39) probably benign Het
Gad1-ps T C 10: 99,280,854 (GRCm39) noncoding transcript Het
Gata6 A G 18: 11,064,771 (GRCm39) T528A probably benign Het
Gjd4 T C 18: 9,280,244 (GRCm39) E278G probably benign Het
Gm20091 T A 10: 96,244,864 (GRCm39) noncoding transcript Het
Gnb3 G A 6: 124,812,659 (GRCm39) Q266* probably null Het
Grm3 A G 5: 9,562,446 (GRCm39) V468A possibly damaging Het
Igf1r C T 7: 67,857,574 (GRCm39) R1085C probably damaging Het
Igsf10 T C 3: 59,227,527 (GRCm39) T2049A probably damaging Het
Jak3 A T 8: 72,138,126 (GRCm39) D859V probably benign Het
Kcnb2 G T 1: 15,783,108 (GRCm39) probably benign Het
Kcnh3 G A 15: 99,138,839 (GRCm39) G858D probably benign Het
Kif1a C A 1: 92,971,360 (GRCm39) R1006L probably damaging Het
Klhl23 C T 2: 69,654,757 (GRCm39) A209V probably benign Het
Mapk13 T C 17: 28,994,229 (GRCm39) Y104H probably damaging Het
Mbd4 A G 6: 115,826,443 (GRCm39) S183P probably damaging Het
Mga T C 2: 119,750,187 (GRCm39) probably null Het
Mipol1 G A 12: 57,461,197 (GRCm39) probably null Het
Mmp14 A G 14: 54,676,166 (GRCm39) T299A possibly damaging Het
Mmrn1 A G 6: 60,953,453 (GRCm39) E578G probably benign Het
Mov10l1 G A 15: 88,879,063 (GRCm39) C193Y possibly damaging Het
Mppe1 A G 18: 67,370,548 (GRCm39) C50R probably damaging Het
Msantd1 C A 5: 35,075,069 (GRCm39) R44S probably damaging Het
Myt1l T C 12: 29,892,570 (GRCm39) V69A possibly damaging Het
Nav1 A T 1: 135,392,430 (GRCm39) probably benign Het
Ncan A G 8: 70,561,252 (GRCm39) S572P possibly damaging Het
Nck2 T C 1: 43,608,304 (GRCm39) probably benign Het
Nemf A T 12: 69,403,088 (GRCm39) D31E probably damaging Het
Nlrp12 T C 7: 3,297,892 (GRCm39) D93G possibly damaging Het
Nsmaf A T 4: 6,419,930 (GRCm39) probably null Het
Nup98 T C 7: 101,835,892 (GRCm39) T184A probably damaging Het
Oog2 C A 4: 143,922,654 (GRCm39) Y306* probably null Het
Or13a18 A T 7: 140,190,297 (GRCm39) N73Y probably damaging Het
Or6ae1 A T 7: 139,742,144 (GRCm39) S240T probably damaging Het
Or6b2b A T 1: 92,419,055 (GRCm39) C141S possibly damaging Het
Osmr A G 15: 6,871,419 (GRCm39) probably benign Het
P2rx6 A G 16: 17,386,162 (GRCm39) N275S probably benign Het
Pbxip1 G T 3: 89,354,926 (GRCm39) G482W possibly damaging Het
Pcsk4 T G 10: 80,161,168 (GRCm39) I249L probably damaging Het
Pou4f2 C T 8: 79,162,291 (GRCm39) G104E probably damaging Het
Pramel28 T A 4: 143,691,653 (GRCm39) T357S possibly damaging Het
Prkdc G T 16: 15,651,652 (GRCm39) R3763L probably damaging Het
Ptpre A T 7: 135,265,044 (GRCm39) I207F probably damaging Het
Rapgef3 A T 15: 97,655,698 (GRCm39) probably benign Het
Rasgrp1 T G 2: 117,115,428 (GRCm39) K685T probably benign Het
Rnf148 C T 6: 23,654,237 (GRCm39) R253Q probably damaging Het
Rock1 T C 18: 10,132,227 (GRCm39) I241V possibly damaging Het
Rp1l1 T G 14: 64,259,541 (GRCm39) V61G probably damaging Het
Scin A C 12: 40,131,770 (GRCm39) S255A probably damaging Het
Sec14l4 A C 11: 3,990,018 (GRCm39) M106L probably benign Het
Sec63 G A 10: 42,674,795 (GRCm39) R226H probably benign Het
Septin2 T A 1: 93,429,345 (GRCm39) N271K probably damaging Het
Serac1 G T 17: 6,099,101 (GRCm39) probably benign Het
Shc2 T A 10: 79,465,974 (GRCm39) probably benign Het
Sipa1l1 T A 12: 82,471,873 (GRCm39) D1284E probably benign Het
Slc11a2 A G 15: 100,306,097 (GRCm39) L105P probably damaging Het
Slc1a3 T A 15: 8,680,406 (GRCm39) T151S probably benign Het
Smarca2 G T 19: 26,668,762 (GRCm39) K920N probably damaging Het
Sugp2 G A 8: 70,711,598 (GRCm39) E964K probably damaging Het
Tas2r122 A C 6: 132,688,778 (GRCm39) N38K probably benign Het
Tecpr1 G A 5: 144,143,092 (GRCm39) R730C probably damaging Het
Tent2 A T 13: 93,312,123 (GRCm39) probably benign Het
Themis3 G T 17: 66,900,265 (GRCm39) N34K possibly damaging Het
Traf3ip1 A G 1: 91,427,341 (GRCm39) T104A unknown Het
Trappc11 A G 8: 47,956,447 (GRCm39) V843A probably benign Het
Trmt61a T A 12: 111,645,361 (GRCm39) L99Q probably damaging Het
Trp53tg5 T A 2: 164,313,401 (GRCm39) K91N probably damaging Het
Ufsp2 T C 8: 46,445,187 (GRCm39) S339P probably damaging Het
Usp20 T A 2: 30,894,462 (GRCm39) V126E probably damaging Het
Vmn1r75 T A 7: 11,614,797 (GRCm39) N176K probably damaging Het
Vmn2r24 A G 6: 123,793,012 (GRCm39) S780G probably benign Het
Vmn2r89 A G 14: 51,695,048 (GRCm39) probably null Het
Vps13d A T 4: 144,771,665 (GRCm39) S4038T probably damaging Het
Vwa7 A G 17: 35,241,627 (GRCm39) T421A probably damaging Het
Wdr95 C A 5: 149,504,271 (GRCm39) L332I probably damaging Het
Wrn T A 8: 33,826,119 (GRCm39) K181I probably damaging Het
Zc3h6 T A 2: 128,859,143 (GRCm39) I1058N possibly damaging Het
Zfp423 T A 8: 88,508,713 (GRCm39) I544F probably damaging Het
Zfp446 T A 7: 12,713,516 (GRCm39) S161T possibly damaging Het
Zmym6 T A 4: 127,017,162 (GRCm39) M889K probably benign Het
Other mutations in Scn8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Scn8a APN 15 100,853,413 (GRCm39) unclassified probably benign
IGL00979:Scn8a APN 15 100,853,287 (GRCm39) unclassified probably benign
IGL01339:Scn8a APN 15 100,930,082 (GRCm39) missense probably benign
IGL01992:Scn8a APN 15 100,866,938 (GRCm39) missense probably damaging 1.00
IGL02215:Scn8a APN 15 100,927,453 (GRCm39) splice site probably null
IGL02311:Scn8a APN 15 100,911,164 (GRCm39) missense probably damaging 0.97
IGL02404:Scn8a APN 15 100,937,611 (GRCm39) missense probably damaging 1.00
IGL02652:Scn8a APN 15 100,911,357 (GRCm39) missense probably damaging 0.98
IGL02690:Scn8a APN 15 100,868,135 (GRCm39) missense probably damaging 1.00
IGL02704:Scn8a APN 15 100,905,943 (GRCm39) missense possibly damaging 0.94
IGL03084:Scn8a APN 15 100,915,053 (GRCm39) missense probably damaging 1.00
IGL03108:Scn8a APN 15 100,872,496 (GRCm39) missense probably benign
IGL03224:Scn8a APN 15 100,933,520 (GRCm39) missense probably damaging 1.00
dan UTSW 15 100,933,505 (GRCm39) nonsense probably null
nymph UTSW 15 100,933,527 (GRCm39) missense probably damaging 1.00
Tremord UTSW 15 100,911,385 (GRCm39) missense probably damaging 1.00
3-1:Scn8a UTSW 15 100,937,820 (GRCm39) missense probably benign 0.04
PIT4280001:Scn8a UTSW 15 100,855,370 (GRCm39) missense probably damaging 1.00
PIT4508001:Scn8a UTSW 15 100,927,573 (GRCm39) missense probably damaging 0.98
R0010:Scn8a UTSW 15 100,911,454 (GRCm39) missense probably damaging 1.00
R0010:Scn8a UTSW 15 100,911,454 (GRCm39) missense probably damaging 1.00
R0254:Scn8a UTSW 15 100,916,245 (GRCm39) missense probably damaging 1.00
R0412:Scn8a UTSW 15 100,906,187 (GRCm39) splice site probably benign
R0539:Scn8a UTSW 15 100,914,449 (GRCm39) missense probably damaging 1.00
R0631:Scn8a UTSW 15 100,933,418 (GRCm39) missense probably damaging 1.00
R0726:Scn8a UTSW 15 100,870,711 (GRCm39) missense probably damaging 1.00
R0945:Scn8a UTSW 15 100,913,668 (GRCm39) missense possibly damaging 0.54
R0967:Scn8a UTSW 15 100,933,527 (GRCm39) missense probably damaging 1.00
R1164:Scn8a UTSW 15 100,938,043 (GRCm39) missense probably benign 0.06
R1283:Scn8a UTSW 15 100,867,052 (GRCm39) missense possibly damaging 0.82
R1368:Scn8a UTSW 15 100,933,422 (GRCm39) missense probably damaging 1.00
R1633:Scn8a UTSW 15 100,927,696 (GRCm39) missense probably benign 0.01
R1669:Scn8a UTSW 15 100,909,001 (GRCm39) missense probably damaging 1.00
R1694:Scn8a UTSW 15 100,853,409 (GRCm39) nonsense probably null
R1735:Scn8a UTSW 15 100,913,742 (GRCm39) missense possibly damaging 0.94
R1773:Scn8a UTSW 15 100,937,496 (GRCm39) missense probably damaging 0.97
R1940:Scn8a UTSW 15 100,868,085 (GRCm39) missense probably benign 0.22
R1996:Scn8a UTSW 15 100,922,260 (GRCm39) missense probably damaging 1.00
R2107:Scn8a UTSW 15 100,916,244 (GRCm39) missense probably damaging 0.99
R2251:Scn8a UTSW 15 100,914,987 (GRCm39) missense probably benign 0.02
R2516:Scn8a UTSW 15 100,867,043 (GRCm39) missense probably benign 0.05
R2917:Scn8a UTSW 15 100,937,613 (GRCm39) missense probably damaging 1.00
R3417:Scn8a UTSW 15 100,869,549 (GRCm39) splice site probably benign
R3896:Scn8a UTSW 15 100,933,379 (GRCm39) missense probably benign
R4024:Scn8a UTSW 15 100,937,674 (GRCm39) missense probably damaging 1.00
R4050:Scn8a UTSW 15 100,911,294 (GRCm39) nonsense probably null
R4193:Scn8a UTSW 15 100,869,484 (GRCm39) missense probably damaging 1.00
R4212:Scn8a UTSW 15 100,854,954 (GRCm39) missense possibly damaging 0.88
R4358:Scn8a UTSW 15 100,838,014 (GRCm39) missense probably benign 0.00
R4396:Scn8a UTSW 15 100,870,711 (GRCm39) missense probably damaging 1.00
R4428:Scn8a UTSW 15 100,881,784 (GRCm39) missense probably damaging 1.00
R4452:Scn8a UTSW 15 100,854,972 (GRCm39) missense possibly damaging 0.95
R4631:Scn8a UTSW 15 100,914,384 (GRCm39) nonsense probably null
R4693:Scn8a UTSW 15 100,913,572 (GRCm39) missense probably damaging 1.00
R4765:Scn8a UTSW 15 100,938,352 (GRCm39) missense probably benign 0.07
R4777:Scn8a UTSW 15 100,913,832 (GRCm39) missense probably damaging 1.00
R4949:Scn8a UTSW 15 100,927,663 (GRCm39) missense probably damaging 1.00
R4997:Scn8a UTSW 15 100,854,935 (GRCm39) missense probably damaging 1.00
R5246:Scn8a UTSW 15 100,908,938 (GRCm39) missense probably damaging 1.00
R5566:Scn8a UTSW 15 100,872,415 (GRCm39) missense probably damaging 1.00
R5875:Scn8a UTSW 15 100,870,703 (GRCm39) nonsense probably null
R6031:Scn8a UTSW 15 100,881,865 (GRCm39) missense probably damaging 1.00
R6031:Scn8a UTSW 15 100,881,865 (GRCm39) missense probably damaging 1.00
R6057:Scn8a UTSW 15 100,872,548 (GRCm39) missense possibly damaging 0.94
R6114:Scn8a UTSW 15 100,938,477 (GRCm39) missense probably damaging 0.99
R6362:Scn8a UTSW 15 100,837,996 (GRCm39) splice site probably null
R6535:Scn8a UTSW 15 100,857,588 (GRCm39) intron probably benign
R6677:Scn8a UTSW 15 100,866,953 (GRCm39) missense probably damaging 1.00
R6687:Scn8a UTSW 15 100,872,508 (GRCm39) missense probably benign 0.12
R6701:Scn8a UTSW 15 100,937,977 (GRCm39) missense probably damaging 1.00
R6719:Scn8a UTSW 15 100,908,896 (GRCm39) critical splice acceptor site probably null
R6739:Scn8a UTSW 15 100,913,836 (GRCm39) missense possibly damaging 0.82
R6769:Scn8a UTSW 15 100,933,445 (GRCm39) missense probably benign
R6786:Scn8a UTSW 15 100,930,096 (GRCm39) missense probably benign 0.00
R6849:Scn8a UTSW 15 100,853,468 (GRCm39) splice site probably null
R7108:Scn8a UTSW 15 100,937,659 (GRCm39) missense probably benign 0.01
R7215:Scn8a UTSW 15 100,927,711 (GRCm39) missense possibly damaging 0.80
R7217:Scn8a UTSW 15 100,868,108 (GRCm39) missense probably benign 0.00
R7219:Scn8a UTSW 15 100,866,984 (GRCm39) missense probably damaging 1.00
R7356:Scn8a UTSW 15 100,855,460 (GRCm39) missense probably damaging 1.00
R7479:Scn8a UTSW 15 100,853,358 (GRCm39) missense probably damaging 0.99
R7816:Scn8a UTSW 15 100,908,917 (GRCm39) missense possibly damaging 0.63
R7985:Scn8a UTSW 15 100,914,843 (GRCm39) splice site probably null
R8112:Scn8a UTSW 15 100,927,718 (GRCm39) missense probably benign 0.27
R8263:Scn8a UTSW 15 100,881,736 (GRCm39) missense probably damaging 1.00
R8305:Scn8a UTSW 15 100,938,387 (GRCm39) missense probably benign 0.01
R8489:Scn8a UTSW 15 100,867,014 (GRCm39) missense probably damaging 1.00
R8983:Scn8a UTSW 15 100,900,030 (GRCm39) missense possibly damaging 0.81
R9034:Scn8a UTSW 15 100,927,642 (GRCm39) missense probably damaging 0.98
R9050:Scn8a UTSW 15 100,906,161 (GRCm39) missense possibly damaging 0.80
R9240:Scn8a UTSW 15 100,915,068 (GRCm39) nonsense probably null
R9249:Scn8a UTSW 15 100,914,456 (GRCm39) missense probably benign 0.00
R9462:Scn8a UTSW 15 100,930,159 (GRCm39) missense
R9599:Scn8a UTSW 15 100,911,172 (GRCm39) missense probably damaging 1.00
R9609:Scn8a UTSW 15 100,834,407 (GRCm39) missense possibly damaging 0.91
R9653:Scn8a UTSW 15 100,937,947 (GRCm39) missense probably damaging 1.00
R9794:Scn8a UTSW 15 100,933,332 (GRCm39) missense probably benign 0.00
X0066:Scn8a UTSW 15 100,937,962 (GRCm39) missense probably damaging 1.00
X0066:Scn8a UTSW 15 100,937,961 (GRCm39) missense probably damaging 1.00
Z1176:Scn8a UTSW 15 100,931,399 (GRCm39) missense probably damaging 1.00
Z1177:Scn8a UTSW 15 100,938,103 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTCGTCACGCAACAAGCCTTCG -3'
(R):5'- GCTCTCAGAAATCTGGTCCTCACAC -3'

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