Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01339:Scn1a'

74736

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 #

IGL01339

Quality Score

Status

Chromosome

Chromosomal Location

66101125-66271181 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66156304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 535 (R535H)

Ref Sequence

ENSEMBL: ENSMUSP00000107990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077489] [ENSMUST00000094951] [ENSMUST00000112366] [ENSMUST00000112371] [ENSMUST00000138910]

AlphaFold

A2APX8

Predicted Effect

probably benign
Transcript: ENSMUST00000077489
AA Change: R535H

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000076697
Gene: ENSMUSG00000064329
AA Change: R535H

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: ENSMUST00000094951
AA Change: R535H

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000092558
Gene: ENSMUSG00000064329
AA Change: R535H

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: R535H

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107985
Gene: ENSMUSG00000064329
AA Change: R535H

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: R535H

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107990
Gene: ENSMUSG00000064329
AA Change: R535H

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: ENSMUST00000138910

SMART Domains

Protein: ENSMUSP00000116881
Gene: ENSMUSG00000064329

Domain	Start	End	E-Value	Type
low complexity region	23	52	N/A	INTRINSIC
transmembrane domain	125	147	N/A	INTRINSIC

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bahcc1	A	G	11: 120,180,338 (GRCm39)	T2565A	probably damaging	Het
C8a	A	C	4: 104,685,182 (GRCm39)	F354V	probably benign	Het
Cadps	C	T	14: 12,486,543 (GRCm38)	V876M	possibly damaging	Het
Chmp7	A	T	14: 69,956,855 (GRCm39)	I351N	probably damaging	Het
Clec7a	A	T	6: 129,442,449 (GRCm39)	W193R	probably damaging	Het
Clint1	T	C	11: 45,799,846 (GRCm39)	V535A	probably benign	Het
Clu	A	G	14: 66,213,037 (GRCm39)	E141G	probably damaging	Het
Cmah	A	T	13: 24,614,532 (GRCm39)	D159V	probably damaging	Het
Cntn2	A	T	1: 132,446,643 (GRCm39)		probably null	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Cyp2d10	C	T	15: 82,288,042 (GRCm39)	A195T	probably benign	Het
Dnah10	G	T	5: 124,854,276 (GRCm39)	K1901N	probably damaging	Het
Dnai3	T	C	3: 145,748,591 (GRCm39)	Y841C	probably benign	Het
Dop1a	G	A	9: 86,433,730 (GRCm39)	D2329N	possibly damaging	Het
Eipr1	A	G	12: 28,914,770 (GRCm39)	E308G	probably damaging	Het
Exoc4	T	C	6: 33,282,335 (GRCm39)		probably benign	Het
Fancd2	A	G	6: 113,530,713 (GRCm39)	I449V	probably benign	Het
Fbn2	T	C	18: 58,246,442 (GRCm39)	T487A	possibly damaging	Het
Fbxo40	T	C	16: 36,790,816 (GRCm39)	E98G	probably damaging	Het
Folh1	G	A	7: 86,375,306 (GRCm39)	T527I	probably damaging	Het
Gls	C	T	1: 52,227,867 (GRCm39)	D217N	probably damaging	Het
Gm6994	A	G	14: 77,718,618 (GRCm39)		probably benign	Het
Gpr149	A	T	3: 62,511,718 (GRCm39)	W94R	probably damaging	Het
Gpr158	A	G	2: 21,373,842 (GRCm39)	D259G	possibly damaging	Het
Hcn2	T	C	10: 79,564,902 (GRCm39)	L438P	probably damaging	Het
Hgd	A	C	16: 37,452,092 (GRCm39)	T374P	possibly damaging	Het
Ints3	A	G	3: 90,322,463 (GRCm39)		probably null	Het
Kctd5	A	T	17: 24,276,749 (GRCm39)	V172E	probably damaging	Het
Lmcd1	A	G	6: 112,287,586 (GRCm39)	I91V	probably benign	Het
Lrrc37a	A	G	11: 103,388,763 (GRCm39)	S2221P	unknown	Het
Ltk	T	A	2: 119,583,455 (GRCm39)	D310V	probably damaging	Het
Luzp1	T	A	4: 136,270,087 (GRCm39)	M770K	probably damaging	Het
Mxd4	G	A	5: 34,341,690 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,781,399 (GRCm39)	H71L	probably benign	Het
Necap2	G	A	4: 140,802,276 (GRCm39)	T63I	probably benign	Het
Nefl	A	G	14: 68,323,931 (GRCm39)		probably benign	Het
Odam	G	A	5: 88,033,755 (GRCm39)		probably null	Het
Pcdh18	A	G	3: 49,710,247 (GRCm39)	I356T	probably benign	Het
Pcx	T	A	19: 4,670,263 (GRCm39)		probably null	Het
Pde2a	T	C	7: 101,156,366 (GRCm39)	S593P	probably benign	Het
Rapgef3	A	T	15: 97,655,940 (GRCm39)	L359M	probably damaging	Het
Rb1	T	C	14: 73,501,811 (GRCm39)		probably null	Het
Rbm44	A	G	1: 91,096,686 (GRCm39)	I976V	probably benign	Het
Rdh13	A	T	7: 4,430,623 (GRCm39)	S278R	probably damaging	Het
Rgma	A	G	7: 73,067,231 (GRCm39)	E256G	probably damaging	Het
Rnf112	A	T	11: 61,341,303 (GRCm39)	D402E	probably benign	Het
Rnps1	T	A	17: 24,641,273 (GRCm39)	D224E	probably damaging	Het
Scn10a	C	T	9: 119,451,832 (GRCm39)	V1364M	probably damaging	Het
Scn8a	A	T	15: 100,930,082 (GRCm39)	D1431V	probably benign	Het
Setdb1	A	T	3: 95,245,891 (GRCm39)	L677*	probably null	Het
Slc17a8	T	A	10: 89,427,106 (GRCm39)	I148F	probably damaging	Het
Slx4ip	T	A	2: 136,885,975 (GRCm39)	C98*	probably null	Het
Sptbn2	T	G	19: 4,796,000 (GRCm39)	Y1726*	probably null	Het
Tcof1	T	C	18: 60,951,167 (GRCm39)		probably benign	Het
Tdrd3	G	A	14: 87,718,230 (GRCm39)	V210I	possibly damaging	Het
Tdrd9	G	A	12: 112,006,868 (GRCm39)	V911M	probably damaging	Het
Tmod4	G	A	3: 95,035,608 (GRCm39)	R252H	probably benign	Het
Tti1	G	T	2: 157,851,050 (GRCm39)	P63Q	possibly damaging	Het
Tuft1	A	T	3: 94,535,594 (GRCm39)	D109E	probably damaging	Het
Zcchc2	T	C	1: 105,957,505 (GRCm39)	S659P	probably damaging	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
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
R0485:Scn1a	UTSW	2	66,104,269 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2013-10-07