Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02079:Scn1a'

186051

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 #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

66270778-66440840 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66323360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 710 (R710G)

Ref Sequence

ENSEMBL: ENSMUSP00000107985 (fasta)

Gene Model

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

AlphaFold

A2APX8

Predicted Effect

probably benign
Transcript: ENSMUST00000077489
AA Change: R699G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000076697
Gene: ENSMUSG00000064329
AA Change: R699G

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: R682G

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000092558
Gene: ENSMUSG00000064329
AA Change: R682G

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: R710G

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107985
Gene: ENSMUSG00000064329
AA Change: R710G

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: R699G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107990
Gene: ENSMUSG00000064329
AA Change: R699G

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,481,359 (GRCm38)	N236I	possibly damaging	Het
Abl1	T	C	2: 31,689,948 (GRCm38)		probably benign	Het
Ago4	A	T	4: 126,517,084 (GRCm38)	M204K	probably damaging	Het
Alms1	T	C	6: 85,628,634 (GRCm38)	V2422A	probably damaging	Het
Ap5z1	T	C	5: 142,477,113 (GRCm38)		probably null	Het
Arsa	T	C	15: 89,473,351 (GRCm38)	T470A	probably benign	Het
Bri3bp	T	C	5: 125,454,689 (GRCm38)	V233A	probably damaging	Het
Cdc45	C	T	16: 18,798,729 (GRCm38)	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492 (GRCm38)	G219V	probably damaging	Het
Ephb6	T	A	6: 41,616,014 (GRCm38)	D395E	possibly damaging	Het
Flt1	T	A	5: 147,568,831 (GRCm38)		probably benign	Het
Fry	A	T	5: 150,399,624 (GRCm38)	N1080I	probably damaging	Het
Gdpgp1	T	A	7: 80,239,020 (GRCm38)	D266E	probably benign	Het
Gspt1	A	G	16: 11,240,829 (GRCm38)	S123P	probably benign	Het
Kctd17	T	C	15: 78,430,156 (GRCm38)		probably benign	Het
Lamb2	T	A	9: 108,482,113 (GRCm38)	C313S	probably damaging	Het
Lcor	T	A	19: 41,555,687 (GRCm38)	S106R	probably benign	Het
Lgr5	A	C	10: 115,452,194 (GRCm38)	S776R	probably damaging	Het
Mettl16	T	G	11: 74,817,624 (GRCm38)	C510G	probably damaging	Het
Mlip	T	C	9: 77,239,529 (GRCm38)	T101A	possibly damaging	Het
Myh6	A	T	14: 54,950,541 (GRCm38)	L1152Q	probably damaging	Het
Mylk	G	A	16: 34,860,631 (GRCm38)	R87H	possibly damaging	Het
Npepl1	C	T	2: 174,119,390 (GRCm38)		probably benign	Het
Nrxn1	A	T	17: 90,643,083 (GRCm38)	M548K	probably damaging	Het
Olfr1205	T	A	2: 88,831,647 (GRCm38)	C177S	probably damaging	Het
Olfr514	T	A	7: 108,825,936 (GRCm38)	E21V	probably damaging	Het
Pate3	T	A	9: 35,646,153 (GRCm38)	Q69L	probably damaging	Het
Piwil1	T	C	5: 128,742,003 (GRCm38)	V192A	possibly damaging	Het
Plcxd2	A	T	16: 45,972,343 (GRCm38)	I211N	probably benign	Het
Plekhg3	T	A	12: 76,560,429 (GRCm38)	Y88N	probably benign	Het
Rabgap1l	C	T	1: 160,738,970 (GRCm38)	C58Y	probably benign	Het
Rnf123	G	A	9: 108,068,302 (GRCm38)	R390*	probably null	Het
Rusc2	A	G	4: 43,425,668 (GRCm38)	S1258G	probably benign	Het
Wwc1	A	G	11: 35,876,058 (GRCm38)	S457P	probably damaging	Het
Xdh	C	T	17: 73,891,277 (GRCm38)	G1205D	probably damaging	Het
Zfp518a	G	A	19: 40,914,617 (GRCm38)	G997R	probably damaging	Het
Zfp592	T	C	7: 81,039,230 (GRCm38)	S1080P	probably benign	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
IGL02171:Scn1a	APN	2	66,273,199 (GRCm38)	missense	probably damaging	1.00
IGL02335:Scn1a	APN	2	66,277,661 (GRCm38)	missense	possibly damaging	0.93
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

2014-05-07