Mutagenetix > Incidental Mutation

Incidental Mutation 'R2367:Scn1a'

246363

Institutional Source

Beutler Lab

Gene Symbol

Scn1a

Ensembl Gene

ENSMUSG00000064329

Gene Name

sodium channel, voltage-gated, type I, alpha

Synonyms

Nav1.1

MMRRC Submission

040348-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2367 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66270778-66440840 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66327679 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 450 (Q450R)

Ref Sequence

ENSEMBL: ENSMUSP00000116881 (fasta)

Gene Model

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

AlphaFold

A2APX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000077489
AA Change: Q450R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076697
Gene: ENSMUSG00000064329
AA Change: Q450R

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: Q450R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000092558
Gene: ENSMUSG00000064329
AA Change: Q450R

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: Q450R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107985
Gene: ENSMUSG00000064329
AA Change: Q450R

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 damaging
Transcript: ENSMUST00000112371
AA Change: Q450R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107990
Gene: ENSMUSG00000064329
AA Change: Q450R

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: ENSMUST00000138910
AA Change: Q450R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116881
Gene: ENSMUSG00000064329
AA Change: Q450R

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	T	C	16: 23,155,319 (GRCm38)	V32A	probably benign	Het
Ceacam3	T	C	7: 17,151,888 (GRCm38)		probably null	Het
Cep250	G	A	2: 155,992,632 (GRCm38)	R2159K	probably damaging	Het
Cfap46	C	A	7: 139,653,498 (GRCm38)	V296F	probably damaging	Het
Ctdspl2	T	C	2: 121,987,018 (GRCm38)	V182A	probably benign	Het
Cyp2c69	T	C	19: 39,877,594 (GRCm38)	N185S	probably benign	Het
Daxx	C	T	17: 33,911,847 (GRCm38)	R279W	probably benign	Het
Dnajc28	G	A	16: 91,616,867 (GRCm38)	T187M	probably damaging	Het
Fat3	G	A	9: 15,998,271 (GRCm38)	S2145F	probably damaging	Het
Galnt13	A	T	2: 55,112,944 (GRCm38)	M552L	probably benign	Het
Gstt2	C	T	10: 75,832,690 (GRCm38)	G108S	probably benign	Het
Heatr1	T	A	13: 12,433,724 (GRCm38)	L422Q	probably damaging	Het
Kntc1	C	T	5: 123,781,192 (GRCm38)	L845F	probably damaging	Het
Krtap26-1	C	A	16: 88,647,325 (GRCm38)	R136L	probably benign	Het
Mrgprb5	C	T	7: 48,168,599 (GRCm38)	W129*	probably null	Het
Ms4a3	G	A	19: 11,629,744 (GRCm38)	P186S	probably benign	Het
Myo15a	T	A	11: 60,517,238 (GRCm38)	M3184K	probably damaging	Het
Olig2	G	A	16: 91,226,566 (GRCm38)	R56Q	possibly damaging	Het
Or8u9	T	C	2: 86,171,637 (GRCm38)	Y60C	probably damaging	Het
Pgap3	C	T	11: 98,391,159 (GRCm38)		probably null	Het
Phgdh	C	G	3: 98,314,296 (GRCm38)	G440A	probably benign	Het
Sema4d	CGGGG	CGGGGGGG	13: 51,703,140 (GRCm38)		probably benign	Het
Sik1	C	T	17: 31,846,297 (GRCm38)	V776I	possibly damaging	Het
Slc25a39	T	A	11: 102,403,651 (GRCm38)	T316S	possibly damaging	Het
Slc38a10	C	T	11: 120,110,261 (GRCm38)	E578K	probably benign	Het
Slc44a5	T	A	3: 154,247,809 (GRCm38)	I276K	possibly damaging	Het
Smarcc2	A	G	10: 128,482,167 (GRCm38)	T610A	possibly damaging	Het
Spag9	G	A	11: 94,116,757 (GRCm38)	S1090N	probably damaging	Het
Tpr	T	C	1: 150,433,728 (GRCm38)	V277A	probably damaging	Het
Traf3ip1	T	G	1: 91,507,520 (GRCm38)	S314A	possibly damaging	Het
Tril	T	A	6: 53,819,166 (GRCm38)	D357V	probably damaging	Het
Tube1	T	C	10: 39,144,919 (GRCm38)	L267P	probably damaging	Het
Vmn1r11	A	G	6: 57,137,431 (GRCm38)	I27V	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TACAACTTAGTGATGTGACTAGGCC -3'
(R):5'- GCTGCTGGCAAAACCTACATG -3'

Sequencing Primer
(F):5'- GATGACCCATACATAGAAGTCCTTGG -3'
(R):5'- GGGCTCATTCTACCTGAT -3'

Posted On

2014-10-30