Mutagenetix > Incidental Mutation

Incidental Mutation 'R0485:Scn1a'

42177

Institutional Source

Beutler Lab

Gene Symbol

Scn1a

Ensembl Gene

ENSMUSG00000064329

Gene Name

sodium channel, voltage-gated, type I, alpha

Synonyms

Nav1.1

MMRRC Submission

038684-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0485 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66101125-66271181 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66104269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1664 (M1664V)

Ref Sequence

ENSEMBL: ENSMUSP00000107985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077489] [ENSMUST00000094951] [ENSMUST00000112366] [ENSMUST00000112371] [ENSMUST00000156865]

AlphaFold

A2APX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077489
AA Change: M1653V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076697
Gene: ENSMUSG00000064329
AA Change: M1653V

Domain	Start	End	E-Value	Type
low complexity region	23	52	N/A	INTRINSIC
Pfam:Ion_trans	156	422	5.4e-77	PFAM
low complexity region	431	466	N/A	INTRINSIC
Pfam:DUF3451	484	708	5.5e-73	PFAM
Pfam:Ion_trans	791	980	6.8e-47	PFAM
Pfam:Na_trans_assoc	995	1217	1.2e-74	PFAM
Pfam:Ion_trans	1243	1471	1.1e-56	PFAM
PDB:1BYY\|A	1473	1525	4e-31	PDB
Pfam:Ion_trans	1564	1774	1.1e-51	PFAM
Pfam:PKD_channel	1623	1781	3.9e-7	PFAM
low complexity region	1826	1838	N/A	INTRINSIC
IQ	1903	1925	1.65e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000094951
AA Change: M1636V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092558
Gene: ENSMUSG00000064329
AA Change: M1636V

Domain	Start	End	E-Value	Type
low complexity region	23	52	N/A	INTRINSIC
Pfam:Ion_trans	156	422	5.3e-77	PFAM
low complexity region	431	466	N/A	INTRINSIC
Pfam:DUF3451	484	691	2e-62	PFAM
Pfam:Ion_trans	774	963	6.7e-47	PFAM
Pfam:Na_trans_assoc	978	1200	1.2e-74	PFAM
Pfam:Ion_trans	1226	1454	1e-56	PFAM
PDB:1BYY\|A	1456	1508	4e-31	PDB
Pfam:Ion_trans	1547	1757	1.1e-51	PFAM
Pfam:PKD_channel	1606	1764	3.8e-7	PFAM
low complexity region	1809	1821	N/A	INTRINSIC
IQ	1886	1908	1.65e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112366
AA Change: M1664V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107985
Gene: ENSMUSG00000064329
AA Change: M1664V

Domain	Start	End	E-Value	Type
low complexity region	23	52	N/A	INTRINSIC
Pfam:Ion_trans	127	434	2.8e-82	PFAM
Pfam:Na_trans_cytopl	502	718	2e-91	PFAM
Pfam:Ion_trans	767	1002	6.5e-57	PFAM
Pfam:Na_trans_assoc	1006	1213	1.2e-60	PFAM
Pfam:Ion_trans	1217	1493	3.3e-67	PFAM
Pfam:Ion_trans	1540	1797	6.3e-56	PFAM
Pfam:PKD_channel	1637	1791	1.1e-6	PFAM
low complexity region	1837	1849	N/A	INTRINSIC
IQ	1914	1936	1.65e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112371
AA Change: M1653V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107990
Gene: ENSMUSG00000064329
AA Change: M1653V

Domain	Start	End	E-Value	Type
low complexity region	23	52	N/A	INTRINSIC
Pfam:Ion_trans	156	422	5.4e-77	PFAM
low complexity region	431	466	N/A	INTRINSIC
Pfam:DUF3451	484	708	5.5e-73	PFAM
Pfam:Ion_trans	791	980	6.8e-47	PFAM
Pfam:Na_trans_assoc	995	1217	1.2e-74	PFAM
Pfam:Ion_trans	1243	1471	1.1e-56	PFAM
PDB:1BYY\|A	1473	1525	4e-31	PDB
Pfam:Ion_trans	1564	1774	1.1e-51	PFAM
Pfam:PKD_channel	1623	1781	3.9e-7	PFAM
low complexity region	1826	1838	N/A	INTRINSIC
IQ	1903	1925	1.65e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156865

SMART Domains

Protein: ENSMUSP00000144633
Gene: ENSMUSG00000064329

Domain	Start	End	E-Value	Type
Pfam:Na_trans_assoc	1	182	2.2e-44	PFAM
Pfam:Ion_trans	186	462	1.3e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200839

Meta Mutation Damage Score

0.6719

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

100% (95/95)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous null mice show postnatal lethality, seizures and behavioral deficits whereas heterozygotes die prematurely with seizures and abnormal electrophysiology. In addition, knock-in mice exhibit increased susceptibility to febrile and flurothyl-induced seizures, and reduced inhibitory signaling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	A	G	16: 3,725,511 (GRCm39)	V5A	probably damaging	Het
Abi3bp	A	G	16: 56,424,375 (GRCm39)		probably null	Het
Acot11	G	A	4: 106,619,224 (GRCm39)	R184C	probably damaging	Het
Adgre5	A	T	8: 84,458,627 (GRCm39)	I133N	probably damaging	Het
Afap1	A	T	5: 36,108,347 (GRCm39)	Q231L	probably damaging	Het
Alg12	T	C	15: 88,695,630 (GRCm39)	T289A	probably benign	Het
Ank3	T	A	10: 69,718,374 (GRCm39)	S542T	possibly damaging	Het
Ankmy2	G	A	12: 36,232,389 (GRCm39)	R138Q	possibly damaging	Het
Ascc2	C	T	11: 4,622,302 (GRCm39)	A456V	probably benign	Het
Atg4c	G	A	4: 99,112,719 (GRCm39)	V289I	probably benign	Het
Bbs7	A	T	3: 36,657,022 (GRCm39)	Y269N	probably damaging	Het
Bcas3	T	A	11: 85,386,676 (GRCm39)	D370E	probably damaging	Het
Bicc1	T	G	10: 70,761,145 (GRCm39)	E955A	probably damaging	Het
Bok	T	C	1: 93,616,999 (GRCm39)	F115S	probably damaging	Het
Caap1	A	T	4: 94,438,758 (GRCm39)		probably null	Het
Cacna2d3	T	A	14: 29,256,476 (GRCm39)	M95L	possibly damaging	Het
Calcrl	T	A	2: 84,200,435 (GRCm39)	D115V	probably benign	Het
Car7	A	T	8: 105,270,170 (GRCm39)	M57L	probably benign	Het
Casq1	G	T	1: 172,037,957 (GRCm39)		probably benign	Het
Cep290	A	T	10: 100,385,206 (GRCm39)	D1894V	possibly damaging	Het
Clec4a2	T	A	6: 123,100,588 (GRCm39)	N14K	probably damaging	Het
Col16a1	G	T	4: 129,984,290 (GRCm39)		probably benign	Het
Col5a1	T	C	2: 27,880,109 (GRCm39)		probably benign	Het
Col5a2	A	T	1: 45,417,642 (GRCm39)	I1311N	probably damaging	Het
Col5a3	T	C	9: 20,694,004 (GRCm39)	T1050A	probably damaging	Het
Colgalt2	A	T	1: 152,360,622 (GRCm39)	I220F	probably damaging	Het
Cpb1	A	T	3: 20,329,792 (GRCm39)	V8E	unknown	Het
Dchs1	C	T	7: 105,421,934 (GRCm39)	R162H	probably benign	Het
Dhx37	A	G	5: 125,499,295 (GRCm39)	Y638H	probably benign	Het
Dhx40	T	G	11: 86,662,088 (GRCm39)		probably benign	Het
Ehd2	T	A	7: 15,686,001 (GRCm39)	Q357L	probably benign	Het
Ewsr1	T	C	11: 5,020,737 (GRCm39)		probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gid8	T	A	2: 180,355,004 (GRCm39)	Y3*	probably null	Het
Gm10212	A	C	19: 11,548,174 (GRCm39)		noncoding transcript	Het
Grin3b	T	A	10: 79,809,890 (GRCm39)	N465K	possibly damaging	Het
H1f3	A	T	13: 23,739,924 (GRCm39)	K221*	probably null	Het
Htr4	A	T	18: 62,561,225 (GRCm39)	N162I	probably damaging	Het
Irag2	T	C	6: 145,110,938 (GRCm39)	C248R	probably damaging	Het
Itga3	T	C	11: 94,952,796 (GRCm39)	D325G	probably benign	Het
Itpr3	T	G	17: 27,330,903 (GRCm39)	V1737G	probably damaging	Het
Kcnab2	C	T	4: 152,479,439 (GRCm39)	V251I	probably benign	Het
Kcnn2	A	T	18: 45,693,215 (GRCm39)	I264L	probably benign	Het
Klhl41	T	C	2: 69,501,600 (GRCm39)	Y354H	probably damaging	Het
Klra6	T	C	6: 130,000,601 (GRCm39)	I68V	probably benign	Het
Letm2	G	T	8: 26,082,574 (GRCm39)	P178Q	probably damaging	Het
Lypd11	C	A	7: 24,422,170 (GRCm39)	C193F	possibly damaging	Het
Mbtps1	A	T	8: 120,249,340 (GRCm39)		probably benign	Het
Mecom	C	T	3: 30,035,121 (GRCm39)		probably benign	Het
Mrps5	T	A	2: 127,433,745 (GRCm39)	S45T	possibly damaging	Het
Msra	T	A	14: 64,678,210 (GRCm39)	I29F	possibly damaging	Het
Mup5	T	C	4: 61,751,229 (GRCm39)		probably null	Het
Myo1a	T	C	10: 127,555,111 (GRCm39)		probably benign	Het
Myrip	C	A	9: 120,270,443 (GRCm39)	N564K	probably benign	Het
Naa20	T	A	2: 145,757,592 (GRCm39)	D148E	probably damaging	Het
Naga	T	G	15: 82,220,956 (GRCm39)		probably benign	Het
Npc1	A	G	18: 12,346,503 (GRCm39)	V231A	probably benign	Het
Nphs1	T	C	7: 30,166,940 (GRCm39)	F716L	probably benign	Het
Or8s5	T	C	15: 98,238,810 (GRCm39)	H20R	probably benign	Het
Parn	G	C	16: 13,472,299 (GRCm39)		probably benign	Het
Polk	A	T	13: 96,620,272 (GRCm39)	C664S	probably benign	Het
Prkar2b	A	G	12: 32,026,034 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,651,604 (GRCm39)	E3747G	probably damaging	Het
Prmt5	A	T	14: 54,748,712 (GRCm39)	M362K	probably damaging	Het
Prob1	T	C	18: 35,786,878 (GRCm39)	T459A	possibly damaging	Het
Rttn	C	T	18: 89,108,543 (GRCm39)		probably benign	Het
Sez6	T	A	11: 77,844,639 (GRCm39)	L154H	probably damaging	Het
Sh3tc1	A	G	5: 35,859,356 (GRCm39)		probably benign	Het
Shkbp1	C	T	7: 27,048,006 (GRCm39)	G334D	probably damaging	Het
Slc8a1	A	T	17: 81,955,422 (GRCm39)	F539I	probably damaging	Het
Spata31e5	G	T	1: 28,817,223 (GRCm39)	Q270K	probably damaging	Het
Sptan1	T	C	2: 29,903,860 (GRCm39)		probably benign	Het
Ssc5d	C	T	7: 4,940,470 (GRCm39)	T861M	probably damaging	Het
Tbx5	A	T	5: 120,021,523 (GRCm39)	M510L	probably benign	Het
Tdp1	A	G	12: 99,876,101 (GRCm39)	T351A	probably benign	Het
Tmc8	T	A	11: 117,682,904 (GRCm39)		probably benign	Het
Tmco5	T	A	2: 116,720,588 (GRCm39)	D205E	probably benign	Het
Tmprss2	T	C	16: 97,373,194 (GRCm39)		probably benign	Het
Top6bl	A	T	19: 4,708,442 (GRCm39)	I350N	probably damaging	Het
Tph1	T	A	7: 46,299,448 (GRCm39)	K364N	probably benign	Het
Trim24	T	C	6: 37,934,001 (GRCm39)	L648P	probably damaging	Het
Trmt6	C	A	2: 132,650,950 (GRCm39)		probably benign	Het
Ube2i	A	T	17: 25,488,259 (GRCm39)		probably benign	Het
Vcan	A	C	13: 89,852,779 (GRCm39)	L727R	possibly damaging	Het
Vmn2r28	T	C	7: 5,491,689 (GRCm39)	Y186C	probably damaging	Het
Wars1	C	A	12: 108,841,083 (GRCm39)	D232Y	probably damaging	Het
Xrcc5	T	C	1: 72,378,104 (GRCm39)		probably benign	Het
Zbtb24	T	A	10: 41,340,532 (GRCm39)	S543T	probably damaging	Het
Zfp91	A	G	19: 12,753,353 (GRCm39)		probably benign	Het

Other mutations in Scn1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Scn1a	APN	2	66,165,875 (GRCm39)	critical splice acceptor site	probably null
IGL00650:Scn1a	APN	2	66,111,137 (GRCm39)	missense	probably damaging	1.00
IGL00658:Scn1a	APN	2	66,116,382 (GRCm39)	missense	probably damaging	1.00
IGL00823:Scn1a	APN	2	66,155,279 (GRCm39)	missense	probably benign	0.04
IGL00907:Scn1a	APN	2	66,158,141 (GRCm39)	missense	probably damaging	1.00
IGL01339:Scn1a	APN	2	66,156,304 (GRCm39)	missense	probably benign	0.09
IGL01401:Scn1a	APN	2	66,119,455 (GRCm39)	missense	probably damaging	1.00
IGL01503:Scn1a	APN	2	66,152,687 (GRCm39)	missense	probably damaging	1.00
IGL01575:Scn1a	APN	2	66,103,580 (GRCm39)	missense	probably damaging	1.00
IGL01598:Scn1a	APN	2	66,132,829 (GRCm39)	missense	possibly damaging	0.63
IGL01613:Scn1a	APN	2	66,116,281 (GRCm39)	missense	probably damaging	1.00
IGL01796:Scn1a	APN	2	66,162,645 (GRCm39)	splice site	probably benign
IGL02079:Scn1a	APN	2	66,153,704 (GRCm39)	missense	probably benign	0.14
IGL02171:Scn1a	APN	2	66,103,543 (GRCm39)	missense	probably damaging	1.00
IGL02335:Scn1a	APN	2	66,108,005 (GRCm39)	missense	possibly damaging	0.93
IGL02406:Scn1a	APN	2	66,156,380 (GRCm39)	missense	possibly damaging	0.88
IGL02436:Scn1a	APN	2	66,181,497 (GRCm39)	missense	probably benign	0.01
IGL02507:Scn1a	APN	2	66,108,157 (GRCm39)	missense	probably damaging	1.00
IGL02646:Scn1a	APN	2	66,129,962 (GRCm39)	splice site	probably null
IGL02729:Scn1a	APN	2	66,129,994 (GRCm39)	missense	probably damaging	1.00
IGL02740:Scn1a	APN	2	66,148,421 (GRCm39)	missense	probably benign	0.00
IGL02740:Scn1a	APN	2	66,155,106 (GRCm39)	missense	probably damaging	1.00
IGL02752:Scn1a	APN	2	66,161,756 (GRCm39)	missense	probably damaging	1.00
IGL02815:Scn1a	APN	2	66,155,202 (GRCm39)	missense	probably damaging	1.00
IGL03163:Scn1a	APN	2	66,148,418 (GRCm39)	missense	probably benign	0.00
IGL03229:Scn1a	APN	2	66,130,057 (GRCm39)	missense	probably damaging	1.00
IGL03286:Scn1a	APN	2	66,107,920 (GRCm39)	missense	probably damaging	0.99
IGL03393:Scn1a	APN	2	66,148,362 (GRCm39)	missense	probably benign	0.19
BB008:Scn1a	UTSW	2	66,148,156 (GRCm39)	missense	probably damaging	0.99
BB018:Scn1a	UTSW	2	66,148,156 (GRCm39)	missense	probably damaging	0.99
PIT4791001:Scn1a	UTSW	2	66,103,626 (GRCm39)	missense	probably benign	0.18
R0053:Scn1a	UTSW	2	66,130,119 (GRCm39)	missense	probably benign	0.05
R0053:Scn1a	UTSW	2	66,130,119 (GRCm39)	missense	probably benign	0.05
R0107:Scn1a	UTSW	2	66,154,977 (GRCm39)	missense	probably benign	0.07
R0141:Scn1a	UTSW	2	66,119,406 (GRCm39)	missense	probably damaging	1.00
R0517:Scn1a	UTSW	2	66,132,751 (GRCm39)	missense	possibly damaging	0.88
R0532:Scn1a	UTSW	2	66,148,167 (GRCm39)	missense	probably damaging	1.00
R0746:Scn1a	UTSW	2	66,181,470 (GRCm39)	missense	probably benign	0.25
R0755:Scn1a	UTSW	2	66,151,379 (GRCm39)	missense	probably damaging	1.00
R0830:Scn1a	UTSW	2	66,130,128 (GRCm39)	missense	probably damaging	1.00
R0846:Scn1a	UTSW	2	66,155,099 (GRCm39)	missense	probably benign	0.43
R0918:Scn1a	UTSW	2	66,153,651 (GRCm39)	splice site	probably null
R1055:Scn1a	UTSW	2	66,168,340 (GRCm39)	missense	probably benign	0.08
R1432:Scn1a	UTSW	2	66,152,773 (GRCm39)	missense	probably damaging	1.00
R1497:Scn1a	UTSW	2	66,162,631 (GRCm39)	missense	probably damaging	1.00
R1512:Scn1a	UTSW	2	66,161,629 (GRCm39)	missense	possibly damaging	0.82
R1525:Scn1a	UTSW	2	66,149,806 (GRCm39)	nonsense	probably null
R1567:Scn1a	UTSW	2	66,103,675 (GRCm39)	missense	probably damaging	1.00
R1702:Scn1a	UTSW	2	66,148,567 (GRCm39)	missense	probably damaging	1.00
R1744:Scn1a	UTSW	2	66,152,620 (GRCm39)	missense	probably benign	0.06
R1834:Scn1a	UTSW	2	66,154,961 (GRCm39)	missense	probably benign	0.00
R1834:Scn1a	UTSW	2	66,154,960 (GRCm39)	missense	probably benign	0.04
R1860:Scn1a	UTSW	2	66,148,326 (GRCm39)	missense	probably damaging	0.99
R1871:Scn1a	UTSW	2	66,148,369 (GRCm39)	missense	probably damaging	0.98
R1909:Scn1a	UTSW	2	66,161,696 (GRCm39)	missense	possibly damaging	0.58
R1967:Scn1a	UTSW	2	66,158,769 (GRCm39)	missense	probably damaging	1.00
R1976:Scn1a	UTSW	2	66,161,615 (GRCm39)	missense	probably benign	0.02
R2291:Scn1a	UTSW	2	66,119,312 (GRCm39)	missense	probably benign	0.44
R2302:Scn1a	UTSW	2	66,108,089 (GRCm39)	missense	probably damaging	1.00
R2367:Scn1a	UTSW	2	66,158,023 (GRCm39)	missense	probably damaging	1.00
R2418:Scn1a	UTSW	2	66,104,187 (GRCm39)	missense	probably damaging	0.98
R2517:Scn1a	UTSW	2	66,104,176 (GRCm39)	missense	probably damaging	1.00
R2568:Scn1a	UTSW	2	66,103,813 (GRCm39)	missense	probably damaging	1.00
R3083:Scn1a	UTSW	2	66,129,981 (GRCm39)	missense	probably damaging	1.00
R3903:Scn1a	UTSW	2	66,148,476 (GRCm39)	missense	probably benign	0.08
R3909:Scn1a	UTSW	2	66,104,332 (GRCm39)	missense	probably damaging	1.00
R3916:Scn1a	UTSW	2	66,107,957 (GRCm39)	missense	probably damaging	1.00
R3935:Scn1a	UTSW	2	66,158,120 (GRCm39)	missense	probably damaging	0.99
R3936:Scn1a	UTSW	2	66,158,120 (GRCm39)	missense	probably damaging	0.99
R4043:Scn1a	UTSW	2	66,156,380 (GRCm39)	missense	possibly damaging	0.60
R4429:Scn1a	UTSW	2	66,181,329 (GRCm39)	missense	possibly damaging	0.77
R4495:Scn1a	UTSW	2	66,111,146 (GRCm39)	critical splice acceptor site	probably null
R4662:Scn1a	UTSW	2	66,181,332 (GRCm39)	missense	probably benign	0.23
R4834:Scn1a	UTSW	2	66,158,866 (GRCm39)	nonsense	probably null
R4873:Scn1a	UTSW	2	66,158,820 (GRCm39)	missense	possibly damaging	0.92
R4875:Scn1a	UTSW	2	66,158,820 (GRCm39)	missense	possibly damaging	0.92
R5099:Scn1a	UTSW	2	66,108,145 (GRCm39)	missense	probably damaging	1.00
R5255:Scn1a	UTSW	2	66,108,013 (GRCm39)	missense	probably damaging	0.99
R5435:Scn1a	UTSW	2	66,103,878 (GRCm39)	missense	probably damaging	1.00
R5449:Scn1a	UTSW	2	66,151,346 (GRCm39)	missense	probably damaging	0.96
R5519:Scn1a	UTSW	2	66,162,557 (GRCm39)	missense	probably damaging	1.00
R5541:Scn1a	UTSW	2	66,154,977 (GRCm39)	missense	probably benign	0.07
R5556:Scn1a	UTSW	2	66,155,141 (GRCm39)	missense	probably benign	0.00
R5587:Scn1a	UTSW	2	66,103,425 (GRCm39)	missense	probably benign	0.01
R5972:Scn1a	UTSW	2	66,181,454 (GRCm39)	missense	possibly damaging	0.65
R5992:Scn1a	UTSW	2	66,165,800 (GRCm39)	missense	probably damaging	1.00
R6195:Scn1a	UTSW	2	66,107,962 (GRCm39)	missense	possibly damaging	0.59
R6233:Scn1a	UTSW	2	66,107,962 (GRCm39)	missense	possibly damaging	0.59
R6328:Scn1a	UTSW	2	66,103,660 (GRCm39)	missense	probably damaging	1.00
R6417:Scn1a	UTSW	2	66,103,542 (GRCm39)	missense	probably damaging	1.00
R6420:Scn1a	UTSW	2	66,103,542 (GRCm39)	missense	probably damaging	1.00
R6421:Scn1a	UTSW	2	66,103,271 (GRCm39)	missense	probably damaging	1.00
R6461:Scn1a	UTSW	2	66,156,466 (GRCm39)	missense	probably null	0.01
R6701:Scn1a	UTSW	2	66,168,304 (GRCm39)	missense	probably damaging	0.99
R6717:Scn1a	UTSW	2	66,162,631 (GRCm39)	missense	probably damaging	1.00
R6834:Scn1a	UTSW	2	66,158,086 (GRCm39)	missense	probably damaging	1.00
R6918:Scn1a	UTSW	2	66,162,557 (GRCm39)	missense	probably damaging	1.00
R6953:Scn1a	UTSW	2	66,149,813 (GRCm39)	missense	probably damaging	1.00
R6996:Scn1a	UTSW	2	66,118,075 (GRCm39)	missense	probably damaging	1.00
R7022:Scn1a	UTSW	2	66,148,243 (GRCm39)	missense	probably damaging	1.00
R7109:Scn1a	UTSW	2	66,181,286 (GRCm39)	missense	possibly damaging	0.62
R7115:Scn1a	UTSW	2	66,154,962 (GRCm39)	nonsense	probably null
R7239:Scn1a	UTSW	2	66,108,000 (GRCm39)	splice site	probably null
R7434:Scn1a	UTSW	2	66,103,389 (GRCm39)	missense	probably benign
R7646:Scn1a	UTSW	2	66,118,102 (GRCm39)	missense	possibly damaging	0.93
R7711:Scn1a	UTSW	2	66,134,004 (GRCm39)	missense	probably benign
R7879:Scn1a	UTSW	2	66,116,349 (GRCm39)	nonsense	probably null
R7931:Scn1a	UTSW	2	66,148,156 (GRCm39)	missense	probably damaging	0.99
R7962:Scn1a	UTSW	2	66,158,786 (GRCm39)	missense	probably damaging	1.00
R8025:Scn1a	UTSW	2	66,148,557 (GRCm39)	missense	probably benign	0.02
R8055:Scn1a	UTSW	2	66,149,845 (GRCm39)	missense	probably damaging	1.00
R8095:Scn1a	UTSW	2	66,132,809 (GRCm39)	missense	possibly damaging	0.93
R8167:Scn1a	UTSW	2	66,155,182 (GRCm39)	missense	probably damaging	0.98
R8339:Scn1a	UTSW	2	66,116,373 (GRCm39)	missense	probably damaging	1.00
R8363:Scn1a	UTSW	2	66,152,601 (GRCm39)	missense	probably damaging	1.00
R8516:Scn1a	UTSW	2	66,156,478 (GRCm39)	missense	possibly damaging	0.79
R8559:Scn1a	UTSW	2	66,118,077 (GRCm39)	missense	probably damaging	1.00
R8726:Scn1a	UTSW	2	66,133,983 (GRCm39)	missense	probably benign
R8733:Scn1a	UTSW	2	66,154,944 (GRCm39)	missense	probably benign
R8779:Scn1a	UTSW	2	66,181,257 (GRCm39)	critical splice donor site	probably benign
R8841:Scn1a	UTSW	2	66,156,466 (GRCm39)	missense	probably benign	0.09
R8916:Scn1a	UTSW	2	66,108,127 (GRCm39)	missense	probably damaging	1.00
R8919:Scn1a	UTSW	2	66,168,330 (GRCm39)	missense	probably benign	0.16
R9040:Scn1a	UTSW	2	66,148,245 (GRCm39)	missense	probably damaging	0.99
R9086:Scn1a	UTSW	2	66,181,358 (GRCm39)	missense	probably benign	0.01
R9176:Scn1a	UTSW	2	66,103,689 (GRCm39)	missense	probably damaging	1.00
R9228:Scn1a	UTSW	2	66,130,099 (GRCm39)	missense	probably benign	0.10
R9275:Scn1a	UTSW	2	66,130,026 (GRCm39)	missense	probably damaging	1.00
R9365:Scn1a	UTSW	2	66,148,465 (GRCm39)	missense	probably benign	0.10
R9478:Scn1a	UTSW	2	66,156,493 (GRCm39)	missense	probably benign	0.01
R9560:Scn1a	UTSW	2	66,158,131 (GRCm39)	missense	probably damaging	1.00
R9608:Scn1a	UTSW	2	66,152,687 (GRCm39)	missense	probably benign	0.02
R9624:Scn1a	UTSW	2	66,153,766 (GRCm39)	missense	probably benign
Z1176:Scn1a	UTSW	2	66,156,472 (GRCm39)	missense	possibly damaging	0.92
Z1177:Scn1a	UTSW	2	66,155,296 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CGCAGAGGTGGTGATTTGGAACA -3'
(R):5'- ACCTCCACTCAGCCTTACTTGGT -3'

Sequencing Primer
(F):5'- ACAGGCAGATCATGCTGTTG -3'
(R):5'- gatgttctaaggaggagaggtg -3'

Posted On

2013-05-23