Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02335:Scn1a'

289681

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scn1a

Ensembl Gene

ENSMUSG00000064329

Gene Name

sodium channel, voltage-gated, type I, alpha

Synonyms

Nav1.1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02335

Quality Score

Status

Chromosome

Chromosomal Location

66270778-66440840 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66277661 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1557 (T1557S)

Ref Sequence

ENSEMBL: ENSMUSP00000092558 (fasta)

Gene Model

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

AlphaFold

A2APX8

Predicted Effect

probably benign
Transcript: ENSMUST00000077489
AA Change: T1574S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000076697
Gene: ENSMUSG00000064329
AA Change: T1574S

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

possibly damaging
Transcript: ENSMUST00000094951
AA Change: T1557S

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092558
Gene: ENSMUSG00000064329
AA Change: T1557S

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 benign
Transcript: ENSMUST00000112366
AA Change: T1585S

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107985
Gene: ENSMUSG00000064329
AA Change: T1585S

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

probably benign
Transcript: ENSMUST00000112371
AA Change: T1574S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000107990
Gene: ENSMUSG00000064329
AA Change: T1574S

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

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	T	7: 140,296,540 (GRCm38)	N526Y	probably damaging	Het
A4gnt	C	T	9: 99,620,213 (GRCm38)	T142I	probably benign	Het
Acaca	A	G	11: 84,214,258 (GRCm38)	T147A	possibly damaging	Het
Agbl3	A	G	6: 34,799,750 (GRCm38)	D397G	probably damaging	Het
Ank1	C	T	8: 23,135,638 (GRCm38)	T1597M	possibly damaging	Het
Arl4d	A	G	11: 101,666,929 (GRCm38)	T94A	possibly damaging	Het
Cd22	A	G	7: 30,876,134 (GRCm38)	I161T	probably damaging	Het
Clcn7	C	T	17: 25,146,847 (GRCm38)	L166F	probably benign	Het
Cnbd1	G	T	4: 19,055,095 (GRCm38)	N110K	possibly damaging	Het
Col14a1	A	T	15: 55,463,769 (GRCm38)		probably benign	Het
Col6a6	C	T	9: 105,784,101 (GRCm38)	V270M	probably damaging	Het
Cox8b	C	A	7: 140,899,077 (GRCm38)	G42W	probably damaging	Het
Csn1s1	A	T	5: 87,680,845 (GRCm38)	D275V	probably benign	Het
Cubn	T	A	2: 13,427,834 (GRCm38)		probably null	Het
Dctn2	T	C	10: 127,275,821 (GRCm38)		probably benign	Het
Dnm1l	A	G	16: 16,342,740 (GRCm38)		probably benign	Het
Dpp4	T	C	2: 62,334,644 (GRCm38)	E687G	probably benign	Het
Fbxw20	T	C	9: 109,223,309 (GRCm38)	K249E	possibly damaging	Het
Fhl2	C	T	1: 43,128,390 (GRCm38)	W181*	probably null	Het
G2e3	T	A	12: 51,369,158 (GRCm38)	M559K	probably benign	Het
Gdap1l1	A	T	2: 163,447,595 (GRCm38)	Y160F	possibly damaging	Het
Gm1110	T	C	9: 26,881,763 (GRCm38)	I572M	probably benign	Het
Gm5538	G	A	3: 59,743,605 (GRCm38)	M49I	probably benign	Het
Gpatch2l	T	A	12: 86,256,937 (GRCm38)		probably benign	Het
Kcnq4	A	G	4: 120,715,854 (GRCm38)	L250P	probably damaging	Het
Lamc2	A	T	1: 153,166,216 (GRCm38)	N57K	probably benign	Het
Lingo1	A	G	9: 56,620,081 (GRCm38)	L408P	probably damaging	Het
Mmrn1	A	T	6: 60,977,147 (GRCm38)	N804I	possibly damaging	Het
Mroh7	A	G	4: 106,707,782 (GRCm38)	L545S	probably damaging	Het
Nup188	T	A	2: 30,323,636 (GRCm38)		probably null	Het
Olfr1442	T	C	19: 12,674,238 (GRCm38)	I11T	probably damaging	Het
Olfr1494	A	G	19: 13,749,934 (GRCm38)	D276G	probably benign	Het
Olfr96	A	G	17: 37,225,326 (GRCm38)	N67S	probably damaging	Het
Pls1	A	T	9: 95,784,183 (GRCm38)	N138K	probably benign	Het
Prkch	C	A	12: 73,702,512 (GRCm38)	N345K	probably benign	Het
Reps1	T	C	10: 18,056,117 (GRCm38)		probably null	Het
Rrp7a	T	C	15: 83,122,691 (GRCm38)	E15G	probably benign	Het
Smtn	T	C	11: 3,526,215 (GRCm38)	E602G	probably damaging	Het
Syvn1	T	C	19: 6,050,093 (GRCm38)		probably null	Het
Tbxas1	A	G	6: 39,023,080 (GRCm38)	D267G	probably damaging	Het
Topbp1	A	G	9: 103,328,523 (GRCm38)	N787D	probably damaging	Het
Vmn2r22	T	G	6: 123,638,092 (GRCm38)	S180R	probably damaging	Het
Zfp345	T	A	2: 150,474,543 (GRCm38)	E48D	possibly damaging	Het
Zfp608	G	A	18: 54,897,437 (GRCm38)	Q1144*	probably null	Het
Zfp936	T	A	7: 43,187,267 (GRCm38)	L34Q	probably damaging	Het

Other mutations in Scn1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Scn1a	APN	2	66,335,531 (GRCm38)	critical splice acceptor site	probably null
IGL00650:Scn1a	APN	2	66,280,793 (GRCm38)	missense	probably damaging	1.00
IGL00658:Scn1a	APN	2	66,286,038 (GRCm38)	missense	probably damaging	1.00
IGL00823:Scn1a	APN	2	66,324,935 (GRCm38)	missense	probably benign	0.04
IGL00907:Scn1a	APN	2	66,327,797 (GRCm38)	missense	probably damaging	1.00
IGL01339:Scn1a	APN	2	66,325,960 (GRCm38)	missense	probably benign	0.09
IGL01401:Scn1a	APN	2	66,289,111 (GRCm38)	missense	probably damaging	1.00
IGL01503:Scn1a	APN	2	66,322,343 (GRCm38)	missense	probably damaging	1.00
IGL01575:Scn1a	APN	2	66,273,236 (GRCm38)	missense	probably damaging	1.00
IGL01598:Scn1a	APN	2	66,302,485 (GRCm38)	missense	possibly damaging	0.63
IGL01613:Scn1a	APN	2	66,285,937 (GRCm38)	missense	probably damaging	1.00
IGL01796:Scn1a	APN	2	66,332,301 (GRCm38)	splice site	probably benign
IGL02079:Scn1a	APN	2	66,323,360 (GRCm38)	missense	probably benign	0.14
IGL02171:Scn1a	APN	2	66,273,199 (GRCm38)	missense	probably damaging	1.00
IGL02406:Scn1a	APN	2	66,326,036 (GRCm38)	missense	possibly damaging	0.88
IGL02436:Scn1a	APN	2	66,351,153 (GRCm38)	missense	probably benign	0.01
IGL02507:Scn1a	APN	2	66,277,813 (GRCm38)	missense	probably damaging	1.00
IGL02646:Scn1a	APN	2	66,299,618 (GRCm38)	splice site	probably null
IGL02729:Scn1a	APN	2	66,299,650 (GRCm38)	missense	probably damaging	1.00
IGL02740:Scn1a	APN	2	66,318,077 (GRCm38)	missense	probably benign	0.00
IGL02740:Scn1a	APN	2	66,324,762 (GRCm38)	missense	probably damaging	1.00
IGL02752:Scn1a	APN	2	66,331,412 (GRCm38)	missense	probably damaging	1.00
IGL02815:Scn1a	APN	2	66,324,858 (GRCm38)	missense	probably damaging	1.00
IGL03163:Scn1a	APN	2	66,318,074 (GRCm38)	missense	probably benign	0.00
IGL03229:Scn1a	APN	2	66,299,713 (GRCm38)	missense	probably damaging	1.00
IGL03286:Scn1a	APN	2	66,277,576 (GRCm38)	missense	probably damaging	0.99
IGL03393:Scn1a	APN	2	66,318,018 (GRCm38)	missense	probably benign	0.19
BB008:Scn1a	UTSW	2	66,317,812 (GRCm38)	missense	probably damaging	0.99
BB018:Scn1a	UTSW	2	66,317,812 (GRCm38)	missense	probably damaging	0.99
PIT4791001:Scn1a	UTSW	2	66,273,282 (GRCm38)	missense	probably benign	0.18
R0053:Scn1a	UTSW	2	66,299,775 (GRCm38)	missense	probably benign	0.05
R0053:Scn1a	UTSW	2	66,299,775 (GRCm38)	missense	probably benign	0.05
R0107:Scn1a	UTSW	2	66,324,633 (GRCm38)	missense	probably benign	0.07
R0141:Scn1a	UTSW	2	66,289,062 (GRCm38)	missense	probably damaging	1.00
R0485:Scn1a	UTSW	2	66,273,925 (GRCm38)	missense	probably damaging	0.98
R0517:Scn1a	UTSW	2	66,302,407 (GRCm38)	missense	possibly damaging	0.88
R0532:Scn1a	UTSW	2	66,317,823 (GRCm38)	missense	probably damaging	1.00
R0746:Scn1a	UTSW	2	66,351,126 (GRCm38)	missense	probably benign	0.25
R0755:Scn1a	UTSW	2	66,321,035 (GRCm38)	missense	probably damaging	1.00
R0830:Scn1a	UTSW	2	66,299,784 (GRCm38)	missense	probably damaging	1.00
R0846:Scn1a	UTSW	2	66,324,755 (GRCm38)	missense	probably benign	0.43
R0918:Scn1a	UTSW	2	66,323,307 (GRCm38)	splice site	probably null
R1055:Scn1a	UTSW	2	66,337,996 (GRCm38)	missense	probably benign	0.08
R1432:Scn1a	UTSW	2	66,322,429 (GRCm38)	missense	probably damaging	1.00
R1497:Scn1a	UTSW	2	66,332,287 (GRCm38)	missense	probably damaging	1.00
R1512:Scn1a	UTSW	2	66,331,285 (GRCm38)	missense	possibly damaging	0.82
R1525:Scn1a	UTSW	2	66,319,462 (GRCm38)	nonsense	probably null
R1567:Scn1a	UTSW	2	66,273,331 (GRCm38)	missense	probably damaging	1.00
R1702:Scn1a	UTSW	2	66,318,223 (GRCm38)	missense	probably damaging	1.00
R1744:Scn1a	UTSW	2	66,322,276 (GRCm38)	missense	probably benign	0.06
R1834:Scn1a	UTSW	2	66,324,617 (GRCm38)	missense	probably benign	0.00
R1834:Scn1a	UTSW	2	66,324,616 (GRCm38)	missense	probably benign	0.04
R1860:Scn1a	UTSW	2	66,317,982 (GRCm38)	missense	probably damaging	0.99
R1871:Scn1a	UTSW	2	66,318,025 (GRCm38)	missense	probably damaging	0.98
R1909:Scn1a	UTSW	2	66,331,352 (GRCm38)	missense	possibly damaging	0.58
R1967:Scn1a	UTSW	2	66,328,425 (GRCm38)	missense	probably damaging	1.00
R1976:Scn1a	UTSW	2	66,331,271 (GRCm38)	missense	probably benign	0.02
R2291:Scn1a	UTSW	2	66,288,968 (GRCm38)	missense	probably benign	0.44
R2302:Scn1a	UTSW	2	66,277,745 (GRCm38)	missense	probably damaging	1.00
R2367:Scn1a	UTSW	2	66,327,679 (GRCm38)	missense	probably damaging	1.00
R2418:Scn1a	UTSW	2	66,273,843 (GRCm38)	missense	probably damaging	0.98
R2517:Scn1a	UTSW	2	66,273,832 (GRCm38)	missense	probably damaging	1.00
R2568:Scn1a	UTSW	2	66,273,469 (GRCm38)	missense	probably damaging	1.00
R3083:Scn1a	UTSW	2	66,299,637 (GRCm38)	missense	probably damaging	1.00
R3903:Scn1a	UTSW	2	66,318,132 (GRCm38)	missense	probably benign	0.08
R3909:Scn1a	UTSW	2	66,273,988 (GRCm38)	missense	probably damaging	1.00
R3916:Scn1a	UTSW	2	66,277,613 (GRCm38)	missense	probably damaging	1.00
R3935:Scn1a	UTSW	2	66,327,776 (GRCm38)	missense	probably damaging	0.99
R3936:Scn1a	UTSW	2	66,327,776 (GRCm38)	missense	probably damaging	0.99
R4043:Scn1a	UTSW	2	66,326,036 (GRCm38)	missense	possibly damaging	0.60
R4429:Scn1a	UTSW	2	66,350,985 (GRCm38)	missense	possibly damaging	0.77
R4495:Scn1a	UTSW	2	66,280,802 (GRCm38)	critical splice acceptor site	probably null
R4662:Scn1a	UTSW	2	66,350,988 (GRCm38)	missense	probably benign	0.23
R4834:Scn1a	UTSW	2	66,328,522 (GRCm38)	nonsense	probably null
R4873:Scn1a	UTSW	2	66,328,476 (GRCm38)	missense	possibly damaging	0.92
R4875:Scn1a	UTSW	2	66,328,476 (GRCm38)	missense	possibly damaging	0.92
R5099:Scn1a	UTSW	2	66,277,801 (GRCm38)	missense	probably damaging	1.00
R5255:Scn1a	UTSW	2	66,277,669 (GRCm38)	missense	probably damaging	0.99
R5435:Scn1a	UTSW	2	66,273,534 (GRCm38)	missense	probably damaging	1.00
R5449:Scn1a	UTSW	2	66,321,002 (GRCm38)	missense	probably damaging	0.96
R5519:Scn1a	UTSW	2	66,332,213 (GRCm38)	missense	probably damaging	1.00
R5541:Scn1a	UTSW	2	66,324,633 (GRCm38)	missense	probably benign	0.07
R5556:Scn1a	UTSW	2	66,324,797 (GRCm38)	missense	probably benign	0.00
R5587:Scn1a	UTSW	2	66,273,081 (GRCm38)	missense	probably benign	0.01
R5972:Scn1a	UTSW	2	66,351,110 (GRCm38)	missense	possibly damaging	0.65
R5992:Scn1a	UTSW	2	66,335,456 (GRCm38)	missense	probably damaging	1.00
R6195:Scn1a	UTSW	2	66,277,618 (GRCm38)	missense	possibly damaging	0.59
R6233:Scn1a	UTSW	2	66,277,618 (GRCm38)	missense	possibly damaging	0.59
R6328:Scn1a	UTSW	2	66,273,316 (GRCm38)	missense	probably damaging	1.00
R6417:Scn1a	UTSW	2	66,273,198 (GRCm38)	missense	probably damaging	1.00
R6420:Scn1a	UTSW	2	66,273,198 (GRCm38)	missense	probably damaging	1.00
R6421:Scn1a	UTSW	2	66,272,927 (GRCm38)	missense	probably damaging	1.00
R6461:Scn1a	UTSW	2	66,326,122 (GRCm38)	missense	probably null	0.01
R6701:Scn1a	UTSW	2	66,337,960 (GRCm38)	missense	probably damaging	0.99
R6717:Scn1a	UTSW	2	66,332,287 (GRCm38)	missense	probably damaging	1.00
R6834:Scn1a	UTSW	2	66,327,742 (GRCm38)	missense	probably damaging	1.00
R6918:Scn1a	UTSW	2	66,332,213 (GRCm38)	missense	probably damaging	1.00
R6953:Scn1a	UTSW	2	66,319,469 (GRCm38)	missense	probably damaging	1.00
R6996:Scn1a	UTSW	2	66,287,731 (GRCm38)	missense	probably damaging	1.00
R7022:Scn1a	UTSW	2	66,317,899 (GRCm38)	missense	probably damaging	1.00
R7109:Scn1a	UTSW	2	66,350,942 (GRCm38)	missense	possibly damaging	0.62
R7115:Scn1a	UTSW	2	66,324,618 (GRCm38)	nonsense	probably null
R7239:Scn1a	UTSW	2	66,277,656 (GRCm38)	splice site	probably null
R7434:Scn1a	UTSW	2	66,273,045 (GRCm38)	missense	probably benign
R7646:Scn1a	UTSW	2	66,287,758 (GRCm38)	missense	possibly damaging	0.93
R7711:Scn1a	UTSW	2	66,303,660 (GRCm38)	missense	probably benign
R7879:Scn1a	UTSW	2	66,286,005 (GRCm38)	nonsense	probably null
R7931:Scn1a	UTSW	2	66,317,812 (GRCm38)	missense	probably damaging	0.99
R7962:Scn1a	UTSW	2	66,328,442 (GRCm38)	missense	probably damaging	1.00
R8025:Scn1a	UTSW	2	66,318,213 (GRCm38)	missense	probably benign	0.02
R8055:Scn1a	UTSW	2	66,319,501 (GRCm38)	missense	probably damaging	1.00
R8095:Scn1a	UTSW	2	66,302,465 (GRCm38)	missense	possibly damaging	0.93
R8167:Scn1a	UTSW	2	66,324,838 (GRCm38)	missense	probably damaging	0.98
R8339:Scn1a	UTSW	2	66,286,029 (GRCm38)	missense	probably damaging	1.00
R8363:Scn1a	UTSW	2	66,322,257 (GRCm38)	missense	probably damaging	1.00
R8516:Scn1a	UTSW	2	66,326,134 (GRCm38)	missense	possibly damaging	0.79
R8559:Scn1a	UTSW	2	66,287,733 (GRCm38)	missense	probably damaging	1.00
R8726:Scn1a	UTSW	2	66,303,639 (GRCm38)	missense	probably benign
R8733:Scn1a	UTSW	2	66,324,600 (GRCm38)	missense	probably benign
R8779:Scn1a	UTSW	2	66,350,913 (GRCm38)	critical splice donor site	probably benign
R8841:Scn1a	UTSW	2	66,326,122 (GRCm38)	missense	probably benign	0.09
R8916:Scn1a	UTSW	2	66,277,783 (GRCm38)	missense	probably damaging	1.00
R8919:Scn1a	UTSW	2	66,337,986 (GRCm38)	missense	probably benign	0.16
R9040:Scn1a	UTSW	2	66,317,901 (GRCm38)	missense	probably damaging	0.99
R9086:Scn1a	UTSW	2	66,351,014 (GRCm38)	missense	probably benign	0.01
R9176:Scn1a	UTSW	2	66,273,345 (GRCm38)	missense	probably damaging	1.00
R9228:Scn1a	UTSW	2	66,299,755 (GRCm38)	missense	probably benign	0.10
R9275:Scn1a	UTSW	2	66,299,682 (GRCm38)	missense	probably damaging	1.00
R9365:Scn1a	UTSW	2	66,318,121 (GRCm38)	missense	probably benign	0.10
R9478:Scn1a	UTSW	2	66,326,149 (GRCm38)	missense	probably benign	0.01
R9560:Scn1a	UTSW	2	66,327,787 (GRCm38)	missense	probably damaging	1.00
R9608:Scn1a	UTSW	2	66,322,343 (GRCm38)	missense	probably benign	0.02
R9624:Scn1a	UTSW	2	66,323,422 (GRCm38)	missense	probably benign
Z1176:Scn1a	UTSW	2	66,326,128 (GRCm38)	missense	possibly damaging	0.92
Z1177:Scn1a	UTSW	2	66,324,952 (GRCm38)	critical splice acceptor site	probably null

Posted On

2015-04-16