Incidental Mutation 'IGL03108:Scn8a'
ID 419077
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.790) question?
Stock # IGL03108
Quality Score
Status
Chromosome 15
Chromosomal Location 100767739-100943819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100872496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 362 (P362S)
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 benign
Transcript: ENSMUST00000082209
AA Change: P512S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080842
Gene: ENSMUSG00000023033
AA Change: P512S

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 benign
Transcript: ENSMUST00000108908
AA Change: P512S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104536
Gene: ENSMUSG00000023033
AA Change: P512S

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 benign
Transcript: ENSMUST00000108909
AA Change: P512S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104537
Gene: ENSMUSG00000023033
AA Change: P512S

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 benign
Transcript: ENSMUST00000108910
AA Change: P512S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104538
Gene: ENSMUSG00000023033
AA Change: P512S

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 benign
Transcript: ENSMUST00000200963
AA Change: P512S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144371
Gene: ENSMUSG00000023033
AA Change: P512S

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 benign
Transcript: ENSMUST00000201518
AA Change: P512S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143879
Gene: ENSMUSG00000023033
AA Change: P512S

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 probably benign
Transcript: ENSMUST00000201549
AA Change: P512S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144013
Gene: ENSMUSG00000023033
AA Change: P512S

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 benign
Transcript: ENSMUST00000202702
AA Change: P362S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143876
Gene: ENSMUSG00000023033
AA Change: P362S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202971
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C A 13: 81,707,648 (GRCm39) V1253F probably damaging Het
Apbb2 A G 5: 66,557,574 (GRCm39) W296R probably damaging Het
Armh3 G A 19: 45,808,792 (GRCm39) T633I probably damaging Het
Btbd3 T C 2: 138,126,043 (GRCm39) V409A possibly damaging Het
C130050O18Rik A T 5: 139,400,820 (GRCm39) D291V probably damaging Het
Catsper3 A G 13: 55,955,848 (GRCm39) N318D probably benign Het
Chd1 T A 17: 15,945,543 (GRCm39) D22E possibly damaging Het
Chrnb2 G A 3: 89,670,681 (GRCm39) probably benign Het
Col24a1 G A 3: 145,029,162 (GRCm39) G550D probably damaging Het
Cryl1 T C 14: 57,550,534 (GRCm39) D110G probably damaging Het
Deaf1 A G 7: 140,902,874 (GRCm39) I150T probably damaging Het
Eif3a A T 19: 60,770,747 (GRCm39) D33E possibly damaging Het
Fabp12 C A 3: 10,315,114 (GRCm39) G78C probably benign Het
Fat1 A G 8: 45,476,651 (GRCm39) D1899G probably damaging Het
Galnt13 G A 2: 54,744,660 (GRCm39) V120I probably benign Het
Ganab G A 19: 8,889,840 (GRCm39) A635T probably damaging Het
Gm17509 G A 13: 117,357,380 (GRCm39) probably benign Het
Gstm3 A T 3: 107,875,080 (GRCm39) probably null Het
Hfm1 T A 5: 107,043,800 (GRCm39) probably benign Het
Hoxd13 A C 2: 74,500,440 (GRCm39) D327A probably damaging Het
Ints4 G T 7: 97,140,137 (GRCm39) probably null Het
Kcna10 A T 3: 107,102,259 (GRCm39) T297S probably benign Het
Ldb2 G A 5: 44,699,057 (GRCm39) T127I probably damaging Het
Mapk7 T C 11: 61,382,498 (GRCm39) D68G probably damaging Het
Msh3 A T 13: 92,357,596 (GRCm39) probably benign Het
Muc6 A G 7: 141,217,402 (GRCm39) S2359P possibly damaging Het
Mup6 A T 4: 60,005,990 (GRCm39) I161F possibly damaging Het
Nup160 G A 2: 90,534,169 (GRCm39) V665I probably benign Het
Or13a22 A G 7: 140,073,034 (GRCm39) N161S possibly damaging Het
Or14a258 T C 7: 86,034,929 (GRCm39) Y313C possibly damaging Het
Or4e5 T A 14: 52,727,533 (GRCm39) D296V probably damaging Het
Otog G A 7: 45,900,762 (GRCm39) V352I probably damaging Het
Oxct1 T A 15: 4,064,764 (GRCm39) V34D probably benign Het
Pcdhb21 T A 18: 37,648,944 (GRCm39) probably null Het
Pcdhb8 T G 18: 37,490,299 (GRCm39) V659G probably damaging Het
Plxnb2 T C 15: 89,042,234 (GRCm39) N1590S probably benign Het
Rnf168 G T 16: 32,097,099 (GRCm39) R56L possibly damaging Het
Slc1a3 T A 15: 8,668,562 (GRCm39) I468F probably damaging Het
Slc39a14 G A 14: 70,556,368 (GRCm39) R3W probably damaging Het
Slc7a6 T A 8: 106,921,149 (GRCm39) N373K probably damaging Het
Snrnp200 T C 2: 127,080,087 (GRCm39) S1955P possibly damaging Het
Stat5a T A 11: 100,753,965 (GRCm39) Y98* probably null Het
Thsd7b G T 1: 130,138,013 (GRCm39) G1564C probably damaging Het
Zc3h13 T C 14: 75,569,206 (GRCm39) V1351A possibly damaging 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
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
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
Posted On 2016-08-02