Mutagenetix > Incidental Mutation

Incidental Mutation 'R0538:Scn8a'

49636

Institutional Source

Beutler Lab

Gene Symbol

Scn8a

Ensembl Gene

ENSMUSG00000023033

Gene Name

sodium channel, voltage-gated, type VIII, alpha

Synonyms

mnd2, C630029C19Rik, nmf58, NMF335, mnd-2, seal, motor end-plate disease, nur14, Nav1.6, med, ataxia 3, nmf2, nmf335, NaCh6

MMRRC Submission

038730-MU

Accession Numbers

Genbank: NM_001077499, NM_011323; MGI: 103169

Essential gene?

Probably essential (E-score: 0.802) question?

Stock #

R0538 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100869858-101045938 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 101035624 bp (GRCm38)

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*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I07Rik	A	T	14: 66,938,374	H6L	unknown	Het
Abca13	G	A	11: 9,267,622		probably null	Het
Acad12	C	T	5: 121,607,448	R260Q	possibly damaging	Het
Actn1	G	A	12: 80,260,100		probably benign	Het
Acvrl1	A	G	15: 101,136,149	T182A	probably damaging	Het
Adam23	T	C	1: 63,567,844		probably benign	Het
Adamtsl1	A	T	4: 86,343,121	T1190S	probably benign	Het
Adh6b	A	T	3: 138,357,650	Y330F	probably benign	Het
Ak7	A	G	12: 105,766,617	E540G	probably damaging	Het
Akr1c19	T	A	13: 4,237,100	L106Q	probably damaging	Het
Ankrd12	A	T	17: 66,049,852	S57T	probably damaging	Het
Aoc3	G	A	11: 101,332,138	R400Q	possibly damaging	Het
Arel1	A	T	12: 84,941,837	I46N	probably damaging	Het
Armc5	A	G	7: 128,244,291	D752G	probably damaging	Het
Atp11b	T	C	3: 35,837,014	V812A	probably damaging	Het
Axin1	A	G	17: 26,184,241	H131R	possibly damaging	Het
Bpifb3	A	G	2: 153,923,869	E184G	probably benign	Het
Cacna2d2	T	C	9: 107,524,383		probably benign	Het
Catsperd	T	C	17: 56,662,828	F641L	probably benign	Het
Ccdc83	A	C	7: 90,228,383	L284V	probably damaging	Het
Ccnt2	T	A	1: 127,803,165	V593E	probably damaging	Het
Cd53	T	A	3: 106,762,128	I185F	probably benign	Het
Cep350	A	T	1: 155,848,620	D3077E	possibly damaging	Het
Ces1h	C	A	8: 93,357,000		probably null	Het
Chrna3	T	A	9: 55,016,006	T173S	probably benign	Het
Clca4b	T	C	3: 144,921,956	D418G	probably benign	Het
Col11a2	T	C	17: 34,051,328		probably benign	Het
Coq2	T	A	5: 100,668,023	I97F	possibly damaging	Het
Cr2	A	G	1: 195,160,359		probably benign	Het
Ctgf	T	A	10: 24,596,466	C136S	probably damaging	Het
D2hgdh	A	G	1: 93,826,377	Y24C	probably damaging	Het
D630045J12Rik	G	A	6: 38,191,693	R974C	probably damaging	Het
Dach1	A	G	14: 97,903,279	V429A	possibly damaging	Het
Ddr1	G	A	17: 35,685,007	T660I	probably damaging	Het
Dlg1	A	C	16: 31,796,864		probably null	Het
Dmbt1	T	C	7: 131,049,901		probably benign	Het
Dmxl2	A	T	9: 54,393,836	D2330E	probably benign	Het
Doc2a	A	G	7: 126,848,811	T5A	probably benign	Het
Dock2	G	A	11: 34,704,718		probably benign	Het
Dok4	T	A	8: 94,865,238	Y290F	probably damaging	Het
Dopey1	A	G	9: 86,485,497	D11G	probably damaging	Het
E230025N22Rik	T	C	18: 36,688,934	H235R	probably benign	Het
Ear6	A	G	14: 51,854,452	D152G	probably damaging	Het
Ecscr	T	A	18: 35,713,636		probably benign	Het
Eml6	A	T	11: 29,760,010		probably benign	Het
Epha4	T	A	1: 77,388,541	Q607L	probably damaging	Het
Exoc4	A	G	6: 33,972,063	N947S	probably benign	Het
Flg	A	G	3: 93,279,460	E73G	probably damaging	Het
Fndc1	C	T	17: 7,784,341		probably benign	Het
Gad1-ps	T	C	10: 99,444,992		noncoding transcript	Het
Gata6	A	G	18: 11,064,771	T528A	probably benign	Het
Gjd4	T	C	18: 9,280,244	E278G	probably benign	Het
Gm13101	T	A	4: 143,965,083	T357S	possibly damaging	Het
Gm20091	T	A	10: 96,409,002		noncoding transcript	Het
Gnb3	G	A	6: 124,835,696	Q266*	probably null	Het
Grm3	A	G	5: 9,512,446	V468A	possibly damaging	Het
Igf1r	C	T	7: 68,207,826	R1085C	probably damaging	Het
Igsf10	T	C	3: 59,320,106	T2049A	probably damaging	Het
Jak3	A	T	8: 71,685,482	D859V	probably benign	Het
Kcnb2	G	T	1: 15,712,884		probably benign	Het
Kcnh3	G	A	15: 99,240,958	G858D	probably benign	Het
Kif1a	C	A	1: 93,043,638	R1006L	probably damaging	Het
Klhl23	C	T	2: 69,824,413	A209V	probably benign	Het
Mapk13	T	C	17: 28,775,255	Y104H	probably damaging	Het
Mbd4	A	G	6: 115,849,482	S183P	probably damaging	Het
Mga	T	C	2: 119,919,706		probably null	Het
Mipol1	G	A	12: 57,414,411		probably null	Het
Mmp14	A	G	14: 54,438,709	T299A	possibly damaging	Het
Mmrn1	A	G	6: 60,976,469	E578G	probably benign	Het
Mov10l1	G	A	15: 88,994,860	C193Y	possibly damaging	Het
Mppe1	A	G	18: 67,237,477	C50R	probably damaging	Het
Msantd1	C	A	5: 34,917,725	R44S	probably damaging	Het
Myt1l	T	C	12: 29,842,571	V69A	possibly damaging	Het
Nav1	A	T	1: 135,464,692		probably benign	Het
Ncan	A	G	8: 70,108,602	S572P	possibly damaging	Het
Nck2	T	C	1: 43,569,144		probably benign	Het
Nemf	A	T	12: 69,356,314	D31E	probably damaging	Het
Nlrp12	T	C	7: 3,249,262	D93G	possibly damaging	Het
Nsmaf	A	T	4: 6,419,930		probably null	Het
Nup98	T	C	7: 102,186,685	T184A	probably damaging	Het
Olfr1415	A	T	1: 92,491,333	C141S	possibly damaging	Het
Olfr46	A	T	7: 140,610,384	N73Y	probably damaging	Het
Olfr522	A	T	7: 140,162,231	S240T	probably damaging	Het
Oog2	C	A	4: 144,196,084	Y306*	probably null	Het
Osmr	A	G	15: 6,841,938		probably benign	Het
P2rx6	A	G	16: 17,568,298	N275S	probably benign	Het
Papd4	A	T	13: 93,175,615		probably benign	Het
Pbxip1	G	T	3: 89,447,619	G482W	possibly damaging	Het
Pcsk4	T	G	10: 80,325,334	I249L	probably damaging	Het
Pou4f2	C	T	8: 78,435,662	G104E	probably damaging	Het
Prkdc	G	T	16: 15,833,788	R3763L	probably damaging	Het
Ptpre	A	T	7: 135,663,315	I207F	probably damaging	Het
Rapgef3	A	T	15: 97,757,817		probably benign	Het
Rasgrp1	T	G	2: 117,284,947	K685T	probably benign	Het
Rnf148	C	T	6: 23,654,238	R253Q	probably damaging	Het
Rock1	T	C	18: 10,132,227	I241V	possibly damaging	Het
Rp1l1	T	G	14: 64,022,092	V61G	probably damaging	Het
Scin	A	C	12: 40,081,771	S255A	probably damaging	Het
Sec14l4	A	C	11: 4,040,018	M106L	probably benign	Het
Sec63	G	A	10: 42,798,799	R226H	probably benign	Het
Sept2	T	A	1: 93,501,623	N271K	probably damaging	Het
Serac1	G	T	17: 6,048,826		probably benign	Het
Shc2	T	A	10: 79,630,140		probably benign	Het
Sipa1l1	T	A	12: 82,425,099	D1284E	probably benign	Het
Slc11a2	A	G	15: 100,408,216	L105P	probably damaging	Het
Slc1a3	T	A	15: 8,650,922	T151S	probably benign	Het
Smarca2	G	T	19: 26,691,362	K920N	probably damaging	Het
Sugp2	G	A	8: 70,258,948	E964K	probably damaging	Het
Tas2r122	A	C	6: 132,711,815	N38K	probably benign	Het
Tecpr1	G	A	5: 144,206,274	R730C	probably damaging	Het
Themis3	G	T	17: 66,593,270	N34K	possibly damaging	Het
Traf3ip1	A	G	1: 91,499,619	T104A	unknown	Het
Trappc11	A	G	8: 47,503,412	V843A	probably benign	Het
Trmt61a	T	A	12: 111,678,927	L99Q	probably damaging	Het
Trp53tg5	T	A	2: 164,471,481	K91N	probably damaging	Het
Ufsp2	T	C	8: 45,992,150	S339P	probably damaging	Het
Usp20	T	A	2: 31,004,450	V126E	probably damaging	Het
Vmn1r75	T	A	7: 11,880,870	N176K	probably damaging	Het
Vmn2r24	A	G	6: 123,816,053	S780G	probably benign	Het
Vmn2r89	A	G	14: 51,457,591		probably null	Het
Vps13d	A	T	4: 145,045,095	S4038T	probably damaging	Het
Vwa7	A	G	17: 35,022,651	T421A	probably damaging	Het
Wdr78	T	C	4: 103,096,618	N128S	possibly damaging	Het
Wdr95	C	A	5: 149,580,806	L332I	probably damaging	Het
Wrn	T	A	8: 33,336,091	K181I	probably damaging	Het
Zc3h6	T	A	2: 129,017,223	I1058N	possibly damaging	Het
Zfp423	T	A	8: 87,782,085	I544F	probably damaging	Het
Zfp446	T	A	7: 12,979,589	S161T	possibly damaging	Het
Zmym6	T	A	4: 127,123,369	M889K	probably benign	Het

Other mutations in Scn8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Scn8a	APN	15	100955532	unclassified	probably benign
IGL00979:Scn8a	APN	15	100955406	unclassified	probably benign
IGL01339:Scn8a	APN	15	101032201	missense	probably benign
IGL01992:Scn8a	APN	15	100969057	missense	probably damaging	1.00
IGL02215:Scn8a	APN	15	101029572	splice site	probably null
IGL02311:Scn8a	APN	15	101013283	missense	probably damaging	0.97
IGL02404:Scn8a	APN	15	101039730	missense	probably damaging	1.00
IGL02652:Scn8a	APN	15	101013476	missense	probably damaging	0.98
IGL02690:Scn8a	APN	15	100970254	missense	probably damaging	1.00
IGL02704:Scn8a	APN	15	101008062	missense	possibly damaging	0.94
IGL03084:Scn8a	APN	15	101017172	missense	probably damaging	1.00
IGL03108:Scn8a	APN	15	100974615	missense	probably benign
IGL03224:Scn8a	APN	15	101035639	missense	probably damaging	1.00
dan	UTSW	15	101035624	nonsense	probably null
nymph	UTSW	15	101035646	missense	probably damaging	1.00
Tremord	UTSW	15	101013504	missense	probably damaging	1.00
3-1:Scn8a	UTSW	15	101039939	missense	probably benign	0.04
PIT4280001:Scn8a	UTSW	15	100957489	missense	probably damaging	1.00
PIT4508001:Scn8a	UTSW	15	101029692	missense	probably damaging	0.98
R0010:Scn8a	UTSW	15	101013573	missense	probably damaging	1.00
R0010:Scn8a	UTSW	15	101013573	missense	probably damaging	1.00
R0254:Scn8a	UTSW	15	101018364	missense	probably damaging	1.00
R0412:Scn8a	UTSW	15	101008306	splice site	probably benign
R0539:Scn8a	UTSW	15	101016568	missense	probably damaging	1.00
R0631:Scn8a	UTSW	15	101035537	missense	probably damaging	1.00
R0726:Scn8a	UTSW	15	100972830	missense	probably damaging	1.00
R0945:Scn8a	UTSW	15	101015787	missense	possibly damaging	0.54
R0967:Scn8a	UTSW	15	101035646	missense	probably damaging	1.00
R1164:Scn8a	UTSW	15	101040162	missense	probably benign	0.06
R1283:Scn8a	UTSW	15	100969171	missense	possibly damaging	0.82
R1368:Scn8a	UTSW	15	101035541	missense	probably damaging	1.00
R1633:Scn8a	UTSW	15	101029815	missense	probably benign	0.01
R1669:Scn8a	UTSW	15	101011120	missense	probably damaging	1.00
R1694:Scn8a	UTSW	15	100955528	nonsense	probably null
R1735:Scn8a	UTSW	15	101015861	missense	possibly damaging	0.94
R1773:Scn8a	UTSW	15	101039615	missense	probably damaging	0.97
R1940:Scn8a	UTSW	15	100970204	missense	probably benign	0.22
R1996:Scn8a	UTSW	15	101024379	missense	probably damaging	1.00
R2107:Scn8a	UTSW	15	101018363	missense	probably damaging	0.99
R2251:Scn8a	UTSW	15	101017106	missense	probably benign	0.02
R2516:Scn8a	UTSW	15	100969162	missense	probably benign	0.05
R2917:Scn8a	UTSW	15	101039732	missense	probably damaging	1.00
R3417:Scn8a	UTSW	15	100971668	splice site	probably benign
R3896:Scn8a	UTSW	15	101035498	missense	probably benign
R4024:Scn8a	UTSW	15	101039793	missense	probably damaging	1.00
R4050:Scn8a	UTSW	15	101013413	nonsense	probably null
R4193:Scn8a	UTSW	15	100971603	missense	probably damaging	1.00
R4212:Scn8a	UTSW	15	100957073	missense	possibly damaging	0.88
R4358:Scn8a	UTSW	15	100940133	missense	probably benign	0.00
R4396:Scn8a	UTSW	15	100972830	missense	probably damaging	1.00
R4428:Scn8a	UTSW	15	100983903	missense	probably damaging	1.00
R4452:Scn8a	UTSW	15	100957091	missense	possibly damaging	0.95
R4631:Scn8a	UTSW	15	101016503	nonsense	probably null
R4693:Scn8a	UTSW	15	101015691	missense	probably damaging	1.00
R4765:Scn8a	UTSW	15	101040471	missense	probably benign	0.07
R4777:Scn8a	UTSW	15	101015951	missense	probably damaging	1.00
R4949:Scn8a	UTSW	15	101029782	missense	probably damaging	1.00
R4997:Scn8a	UTSW	15	100957054	missense	probably damaging	1.00
R5246:Scn8a	UTSW	15	101011057	missense	probably damaging	1.00
R5566:Scn8a	UTSW	15	100974534	missense	probably damaging	1.00
R5875:Scn8a	UTSW	15	100972822	nonsense	probably null
R6031:Scn8a	UTSW	15	100983984	missense	probably damaging	1.00
R6031:Scn8a	UTSW	15	100983984	missense	probably damaging	1.00
R6057:Scn8a	UTSW	15	100974667	missense	possibly damaging	0.94
R6114:Scn8a	UTSW	15	101040596	missense	probably damaging	0.99
R6362:Scn8a	UTSW	15	100940115	splice site	probably null
R6535:Scn8a	UTSW	15	100959707	intron	probably benign
R6677:Scn8a	UTSW	15	100969072	missense	probably damaging	1.00
R6687:Scn8a	UTSW	15	100974627	missense	probably benign	0.12
R6701:Scn8a	UTSW	15	101040096	missense	probably damaging	1.00
R6719:Scn8a	UTSW	15	101011015	critical splice acceptor site	probably null
R6739:Scn8a	UTSW	15	101015955	missense	possibly damaging	0.82
R6769:Scn8a	UTSW	15	101035564	missense	probably benign
R6786:Scn8a	UTSW	15	101032215	missense	probably benign	0.00
R6849:Scn8a	UTSW	15	100955587	splice site	probably null
R7108:Scn8a	UTSW	15	101039778	missense	probably benign	0.01
R7215:Scn8a	UTSW	15	101029830	missense	possibly damaging	0.80
R7217:Scn8a	UTSW	15	100970227	missense	probably benign	0.00
R7219:Scn8a	UTSW	15	100969103	missense	probably damaging	1.00
R7356:Scn8a	UTSW	15	100957579	missense	probably damaging	1.00
R7479:Scn8a	UTSW	15	100955477	missense	probably damaging	0.99
R7816:Scn8a	UTSW	15	101011036	missense	possibly damaging	0.63
R7985:Scn8a	UTSW	15	101016962	splice site	probably null
R8112:Scn8a	UTSW	15	101029837	missense	probably benign	0.27
R8263:Scn8a	UTSW	15	100983855	missense	probably damaging	1.00
R8305:Scn8a	UTSW	15	101040506	missense	probably benign	0.01
R8489:Scn8a	UTSW	15	100969133	missense	probably damaging	1.00
R8983:Scn8a	UTSW	15	101002149	missense	possibly damaging	0.81
R9034:Scn8a	UTSW	15	101029761	missense	probably damaging	0.98
R9050:Scn8a	UTSW	15	101008280	missense	possibly damaging	0.80
R9240:Scn8a	UTSW	15	101017187	nonsense	probably null
R9249:Scn8a	UTSW	15	101016575	missense	probably benign	0.00
R9462:Scn8a	UTSW	15	101032278	missense
R9599:Scn8a	UTSW	15	101013291	missense	probably damaging	1.00
R9609:Scn8a	UTSW	15	100936526	missense	possibly damaging	0.91
R9653:Scn8a	UTSW	15	101040066	missense	probably damaging	1.00
R9794:Scn8a	UTSW	15	101035451	missense	probably benign	0.00
X0066:Scn8a	UTSW	15	101040080	missense	probably damaging	1.00
X0066:Scn8a	UTSW	15	101040081	missense	probably damaging	1.00
Z1176:Scn8a	UTSW	15	101033518	missense	probably damaging	1.00
Z1177:Scn8a	UTSW	15	101040222	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