Incidental Mutation 'R4193:Scn8a'
ID 318446
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 041024-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.790) question?
Stock # R4193 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 100767739-100943819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100869484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 209 (A209V)
Ref Sequence ENSEMBL: ENSMUSP00000143876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082209] [ENSMUST00000108908] [ENSMUST00000108909] [ENSMUST00000108910] [ENSMUST00000200963] [ENSMUST00000201518] [ENSMUST00000201549] [ENSMUST00000202702]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000082209
AA Change: A359V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080842
Gene: ENSMUSG00000023033
AA Change: A359V

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 damaging
Transcript: ENSMUST00000108908
AA Change: A359V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104536
Gene: ENSMUSG00000023033
AA Change: A359V

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 damaging
Transcript: ENSMUST00000108909
AA Change: A359V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104537
Gene: ENSMUSG00000023033
AA Change: A359V

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 damaging
Transcript: ENSMUST00000108910
AA Change: A359V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104538
Gene: ENSMUSG00000023033
AA Change: A359V

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 damaging
Transcript: ENSMUST00000200963
AA Change: A359V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144371
Gene: ENSMUSG00000023033
AA Change: A359V

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 damaging
Transcript: ENSMUST00000201518
AA Change: A359V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143879
Gene: ENSMUSG00000023033
AA Change: A359V

DomainStartEndE-ValueType
Pfam:Ion_trans 131 422 8.8e-81 PFAM
low complexity region 423 452 N/A INTRINSIC
Pfam:Na_trans_cytopl 499 700 6.7e-70 PFAM
low complexity region 701 712 N/A INTRINSIC
Pfam:Ion_trans 750 804 5.3e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202971
Predicted Effect probably damaging
Transcript: ENSMUST00000201549
AA Change: A359V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144013
Gene: ENSMUSG00000023033
AA Change: A359V

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 damaging
Transcript: ENSMUST00000202702
AA Change: A209V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143876
Gene: ENSMUSG00000023033
AA Change: A209V

DomainStartEndE-ValueType
Pfam:Ion_trans 1 272 7.9e-75 PFAM
low complexity region 273 302 N/A INTRINSIC
Pfam:Na_trans_cytopl 349 539 9.4e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202452
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G T 14: 35,818,536 (GRCm39) R178L possibly damaging Het
Abcb1a G A 5: 8,765,068 (GRCm39) probably null Het
Acap3 A G 4: 155,986,234 (GRCm39) T285A probably benign Het
Adam20 A T 8: 41,248,352 (GRCm39) N154I probably damaging Het
Adamts8 A T 9: 30,870,604 (GRCm39) D693V probably damaging Het
Ak9 A G 10: 41,211,941 (GRCm39) H226R probably benign Het
Atp6v1b1 A G 6: 83,720,085 (GRCm39) S7G probably benign Het
Atxn7l3b C A 10: 112,764,610 (GRCm39) L6F probably damaging Het
Bco1 C T 8: 117,840,208 (GRCm39) T242M probably damaging Het
Btla A G 16: 45,070,845 (GRCm39) N268S probably benign Het
Capn9 A G 8: 125,327,225 (GRCm39) S292G probably null Het
Cdhr18 C T 14: 13,914,416 (GRCm38) V9I probably benign Het
Col7a1 G A 9: 108,785,740 (GRCm39) S403N unknown Het
Ctps1 A G 4: 120,405,335 (GRCm39) V369A probably damaging Het
Ddx19b A T 8: 111,737,980 (GRCm39) L256Q probably damaging Het
Dnah7a T C 1: 53,486,493 (GRCm39) K3356R probably benign Het
Dpf2 G A 19: 5,957,044 (GRCm39) R60* probably null Het
Eif3h A T 15: 51,662,695 (GRCm39) V117E probably damaging Het
Fam234a A T 17: 26,432,834 (GRCm39) L467Q probably damaging Het
Fez1 T A 9: 36,755,023 (GRCm39) S7R probably damaging Het
Fh1 T A 1: 175,442,407 (GRCm39) M148L possibly damaging Het
Gabra2 G A 5: 71,165,341 (GRCm39) P210S probably benign Het
Gfm1 T G 3: 67,339,053 (GRCm39) I52S probably damaging Het
Gm6729 A T 10: 86,376,483 (GRCm39) noncoding transcript Het
Gpr152 T G 19: 4,192,906 (GRCm39) L149R probably damaging Het
H2bc27 T A 11: 58,840,067 (GRCm39) L101Q probably damaging Het
Ifnar2 A T 16: 91,201,232 (GRCm39) D491V probably damaging Het
Igkv14-126 T C 6: 67,873,367 (GRCm39) S32P possibly damaging Het
Il1rl2 A G 1: 40,404,208 (GRCm39) E443G probably damaging Het
Impg2 A G 16: 56,088,774 (GRCm39) D1100G probably benign Het
Itga2 G A 13: 115,023,185 (GRCm39) R56* probably null Het
Itga2b A G 11: 102,360,511 (GRCm39) S10P probably benign Het
Jmjd1c C T 10: 66,932,460 (GRCm39) probably benign Het
Kdm7a T G 6: 39,146,030 (GRCm39) K299T probably damaging Het
Large2 T A 2: 92,195,704 (GRCm39) D632V probably damaging Het
Lrp2 C T 2: 69,297,487 (GRCm39) C3158Y probably damaging Het
Malt1 T A 18: 65,580,746 (GRCm39) D213E probably benign Het
Nkapl T C 13: 21,651,512 (GRCm39) Q367R probably benign Het
Nwd2 T C 5: 63,964,808 (GRCm39) L1464P probably damaging Het
Or1e25 C G 11: 73,494,243 (GRCm39) T279R probably damaging Het
Or2y1 A C 11: 49,386,134 (GRCm39) Y258S probably damaging Het
Or7a40 A T 16: 16,491,511 (GRCm39) D111E possibly damaging Het
Or8u10 T A 2: 85,916,044 (GRCm39) I26F probably benign Het
Or9g20 C T 2: 85,630,362 (GRCm39) C84Y probably benign Het
P2ry2 A G 7: 100,647,657 (GRCm39) V216A probably benign Het
Pcdhb1 A G 18: 37,400,199 (GRCm39) K717E probably damaging Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Pcsk6 T C 7: 65,675,056 (GRCm39) S476P probably damaging Het
Phactr3 T A 2: 177,924,945 (GRCm39) H293Q probably damaging Het
Pias1 T C 9: 62,859,286 (GRCm39) D74G possibly damaging Het
Plekhg6 T C 6: 125,350,081 (GRCm39) T286A probably benign Het
Pramel23 A T 4: 143,424,903 (GRCm39) L180Q probably damaging Het
Prkag2 A C 5: 25,083,758 (GRCm39) M75R probably damaging Het
Prl7c1 T A 13: 27,960,261 (GRCm39) M94L probably benign Het
Prodh C T 16: 17,891,504 (GRCm39) V480I probably benign Het
Ptprn2 A G 12: 116,864,628 (GRCm39) I548V probably benign Het
Ptprr T C 10: 116,088,769 (GRCm39) W307R probably damaging Het
Rab29 T C 1: 131,797,700 (GRCm39) S52P possibly damaging Het
Ralgapa2 A G 2: 146,184,493 (GRCm39) F1505L probably damaging Het
Senp2 G T 16: 21,865,417 (GRCm39) W580L probably damaging Het
Septin4 A T 11: 87,474,142 (GRCm39) probably null Het
Slc17a5 C A 9: 78,466,388 (GRCm39) V269L possibly damaging Het
Slc2a9 T C 5: 38,556,049 (GRCm39) N299S probably damaging Het
Slc41a2 T A 10: 83,137,085 (GRCm39) H274L probably damaging Het
Suco A T 1: 161,691,528 (GRCm39) D43E probably benign Het
Tacr2 T A 10: 62,088,958 (GRCm39) I121N probably damaging Het
Tanc2 G A 11: 105,804,888 (GRCm39) probably benign Het
Tbl1xr1 T C 3: 22,254,522 (GRCm39) F322L possibly damaging Het
Tdrd1 T A 19: 56,839,773 (GRCm39) L611* probably null Het
Tgfbr2 T C 9: 115,939,009 (GRCm39) T298A probably damaging Het
Tmprss12 T C 15: 100,187,185 (GRCm39) V217A probably damaging Het
Ttbk1 A T 17: 46,790,173 (GRCm39) C91S probably damaging Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Vmn1r71 A T 7: 10,482,175 (GRCm39) I105K possibly damaging Het
Vmn2r57 A G 7: 41,077,663 (GRCm39) F168L probably benign Het
Zfp945 C T 17: 23,070,144 (GRCm39) 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
R0538:Scn8a UTSW 15 100,933,505 (GRCm39) nonsense probably null
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
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'- AATGCTGAACTTCCTCCCCATG -3'
(R):5'- TGAATTCATCCATCCCGAGGG -3'

Sequencing Primer
(F):5'- CTTTTGCCAGGAATGAAATCTAGGGC -3'
(R):5'- GGATCGAGAAACGCCGTTC -3'
Posted On 2015-06-10