Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02740:Scn1a'

305848

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 #

IGL02740

Quality Score

Status

Chromosome

Chromosomal Location

66101125-66271181 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66148421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1041 (D1041E)

Ref Sequence

ENSEMBL: ENSMUSP00000107990 (fasta)

Gene Model

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

AlphaFold

A2APX8

Predicted Effect

probably benign
Transcript: ENSMUST00000077489
AA Change: D1041E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000076697
Gene: ENSMUSG00000064329
AA Change: D1041E

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: D1024E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092558
Gene: ENSMUSG00000064329
AA Change: D1024E

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: D1052E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107985
Gene: ENSMUSG00000064329
AA Change: D1052E

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: D1041E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107990
Gene: ENSMUSG00000064329
AA Change: D1041E

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
AA Change: D21E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144633
Gene: ENSMUSG00000064329
AA Change: D21E

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	C	T	1: 59,209,078 (GRCm39)	E1494K	probably benign	Het
Antxr2	A	G	5: 98,178,251 (GRCm39)		probably benign	Het
Arhgap23	A	C	11: 97,365,843 (GRCm39)	K998Q	probably damaging	Het
Bap1	A	G	14: 30,978,729 (GRCm39)	N47D	possibly damaging	Het
Carmil1	A	G	13: 24,278,501 (GRCm39)	I156T	probably damaging	Het
Ccdc141	T	C	2: 76,884,953 (GRCm39)	T563A	probably benign	Het
Cct7	T	C	6: 85,445,252 (GRCm39)	F501S	probably benign	Het
Cd59b	A	G	2: 103,909,242 (GRCm39)	I8V	probably benign	Het
Cep135	T	C	5: 76,786,115 (GRCm39)		probably null	Het
Cep170	T	G	1: 176,621,166 (GRCm39)	T4P	probably damaging	Het
Chaf1a	G	T	17: 56,374,500 (GRCm39)	G896W	probably damaging	Het
Cpt1b	A	T	15: 89,308,535 (GRCm39)	L131Q	probably damaging	Het
Dcaf13	C	T	15: 39,008,495 (GRCm39)	R366*	probably null	Het
Ddr2	A	T	1: 169,812,514 (GRCm39)	N659K	probably damaging	Het
Dmrt2	C	A	19: 25,655,837 (GRCm39)	L479I	possibly damaging	Het
Dnah10	A	G	5: 124,903,927 (GRCm39)		probably benign	Het
Dsg3	C	T	18: 20,660,765 (GRCm39)	T368M	possibly damaging	Het
Dspp	C	A	5: 104,325,104 (GRCm39)	S489*	probably null	Het
Eed	A	C	7: 89,621,464 (GRCm39)	V112G	possibly damaging	Het
Ehmt1	T	A	2: 24,705,851 (GRCm39)		probably benign	Het
Elavl3	T	C	9: 21,947,675 (GRCm39)	D89G	probably benign	Het
Ercc5	T	C	1: 44,206,652 (GRCm39)	S522P	probably benign	Het
Esrrg	T	C	1: 187,930,938 (GRCm39)	L320P	probably benign	Het
Gadl1	T	A	9: 115,835,629 (GRCm39)	Y352*	probably null	Het
Gemin5	G	A	11: 58,042,390 (GRCm39)	A477V	probably damaging	Het
Gm3086	A	T	12: 70,016,095 (GRCm39)		probably benign	Het
Gm8082	C	T	14: 42,846,570 (GRCm39)		probably benign	Het
Gpr180	T	C	14: 118,377,161 (GRCm39)	L54P	probably damaging	Het
Gpsm1	G	A	2: 26,230,585 (GRCm39)	V512M	probably benign	Het
Ighv5-4	A	G	12: 113,561,100 (GRCm39)	S107P	probably damaging	Het
Irak4	T	C	15: 94,464,925 (GRCm39)	*460Q	probably null	Het
Nfkbiz	G	T	16: 55,638,317 (GRCm39)	T381N	probably benign	Het
Or1e25	A	T	11: 73,493,657 (GRCm39)	N84Y	probably benign	Het
Or5d39	T	A	2: 87,979,601 (GRCm39)	H254L	probably damaging	Het
Or8b46	T	C	9: 38,450,226 (GRCm39)	F12L	probably damaging	Het
Or8g23	T	C	9: 38,971,585 (GRCm39)	I126V	probably benign	Het
Pou2f1	G	A	1: 165,710,685 (GRCm39)	Q523*	probably null	Het
Ptcra	A	G	17: 47,069,473 (GRCm39)	S133P	probably damaging	Het
Ptgfrn	A	T	3: 100,980,253 (GRCm39)	D362E	possibly damaging	Het
Rbm33	A	T	5: 28,536,121 (GRCm39)	D19V	probably damaging	Het
Rnf4	T	A	5: 34,506,898 (GRCm39)	V74D	possibly damaging	Het
Rprd1b	A	G	2: 157,889,899 (GRCm39)	D7G	probably damaging	Het
Rrp1b	A	G	17: 32,278,305 (GRCm39)	T659A	probably damaging	Het
Scaf11	T	C	15: 96,316,883 (GRCm39)	N894D	probably benign	Het
Slc43a1	G	T	2: 84,690,094 (GRCm39)	A424S	probably damaging	Het
Sprtn	T	C	8: 125,625,042 (GRCm39)	L49P	probably damaging	Het
Sv2a	G	T	3: 96,092,723 (GRCm39)	R141L	possibly damaging	Het
Thsd7b	C	T	1: 129,540,864 (GRCm39)	S246F	probably damaging	Het
Tmem117	A	T	15: 94,612,863 (GRCm39)	D133V	probably benign	Het
Tnn	A	T	1: 159,968,347 (GRCm39)		probably benign	Het
Triobp	G	A	15: 78,850,889 (GRCm39)	V348I	probably benign	Het
Trps1	A	T	15: 50,709,935 (GRCm39)	D134E	probably damaging	Het
Ttn	T	C	2: 76,598,162 (GRCm39)	I19584V	probably benign	Het
Uqcrfs1	T	C	13: 30,725,006 (GRCm39)	H178R	probably damaging	Het
Ush2a	A	T	1: 188,380,585 (GRCm39)	Q2298L	possibly damaging	Het
Vmn2r67	A	G	7: 84,785,818 (GRCm39)	I729T	probably damaging	Het
Vmn2r79	A	T	7: 86,653,366 (GRCm39)	M544L	probably benign	Het
Vps41	T	A	13: 19,022,850 (GRCm39)	L404Q	probably damaging	Het
Xrcc5	T	G	1: 72,379,240 (GRCm39)		probably null	Het
Zfp735	A	G	11: 73,601,412 (GRCm39)	K119E	possibly 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
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	66,155,106 (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

2015-04-16