Mutagenetix > Incidental Mutation

Incidental Mutation 'R7022:Scn1a'

545667

Institutional Source

Beutler Lab

Gene Symbol

Scn1a

Ensembl Gene

ENSMUSG00000064329

Gene Name

sodium channel, voltage-gated, type I, alpha

Synonyms

Nav1.1

MMRRC Submission

045123-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66270778-66440840 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66317899 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1101 (T1101S)

Ref Sequence

ENSEMBL: ENSMUSP00000107990 (fasta)

Gene Model

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

AlphaFold

A2APX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000077489
AA Change: T1101S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076697
Gene: ENSMUSG00000064329
AA Change: T1101S

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: T1084S

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092558
Gene: ENSMUSG00000064329
AA Change: T1084S

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

possibly damaging
Transcript: ENSMUST00000112366
AA Change: T1112S

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107985
Gene: ENSMUSG00000064329
AA Change: T1112S

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: T1101S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107990
Gene: ENSMUSG00000064329
AA Change: T1101S

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: ENSMUST00000156865
AA Change: T81S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144633
Gene: ENSMUSG00000064329
AA Change: T81S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,083,500 (GRCm38)	S203T	probably damaging	Het
Adat1	A	T	8: 111,989,862 (GRCm38)	M76K	probably damaging	Het
Ankrd33	G	C	15: 101,116,899 (GRCm38)	V56L	probably benign	Het
Ascc3	T	A	10: 50,716,629 (GRCm38)	L1134I	possibly damaging	Het
C3	T	G	17: 57,217,286 (GRCm38)	D948A	probably damaging	Het
Ccdc121rt3	A	C	5: 112,355,529 (GRCm38)	M103R	probably benign	Het
Ccdc40	A	G	11: 119,231,786 (GRCm38)	E138G	possibly damaging	Het
Cd80	A	G	16: 38,486,504 (GRCm38)		probably null	Het
Cdca7	T	A	2: 72,479,529 (GRCm38)		probably null	Het
Chit1	A	G	1: 134,151,292 (GRCm38)	S447G	probably benign	Het
Cmya5	C	T	13: 93,069,278 (GRCm38)		probably null	Het
Cnnm2	T	A	19: 46,858,940 (GRCm38)		probably null	Het
Cnnm2	A	T	19: 46,762,550 (GRCm38)	I260F	probably damaging	Het
Col1a2	T	C	6: 4,534,639 (GRCm38)	L881P	unknown	Het
Crebbp	A	T	16: 4,117,323 (GRCm38)	S901T	probably damaging	Het
Dcun1d2	T	C	8: 13,271,637 (GRCm38)	Y158C	probably damaging	Het
Dnhd1	C	T	7: 105,720,798 (GRCm38)	P4477S	probably benign	Het
Donson	A	G	16: 91,681,330 (GRCm38)	Y428H	probably damaging	Het
Dsp	G	T	13: 38,191,740 (GRCm38)	W1167L	probably benign	Het
Elmo2	C	T	2: 165,295,041 (GRCm38)	V592M	probably damaging	Het
Enpp3	T	A	10: 24,826,195 (GRCm38)	E60D	probably damaging	Het
Erfl	A	T	7: 24,931,664 (GRCm38)		probably null	Het
Fam83b	TAAGA	T	9: 76,502,112 (GRCm38)		probably null	Het
Fbxo38	A	G	18: 62,536,224 (GRCm38)	C52R	probably damaging	Het
Gm10912	T	C	2: 104,066,710 (GRCm38)	W65R	probably damaging	Het
Gm43518	A	T	5: 123,936,427 (GRCm38)	M44L	probably benign	Het
Gnb1	T	A	4: 155,553,456 (GRCm38)	D212E	probably damaging	Het
Gnl1	A	G	17: 35,988,728 (GRCm38)	N597S	probably damaging	Het
Gprin1	T	G	13: 54,739,042 (GRCm38)	E473A	probably benign	Het
Ighv1-69	T	A	12: 115,623,214 (GRCm38)	M100L	probably benign	Het
Igkv14-100	T	C	6: 68,519,209 (GRCm38)	S29P	probably damaging	Het
Ints6	A	G	14: 62,714,337 (GRCm38)	V232A	probably damaging	Het
Jup	A	G	11: 100,379,553 (GRCm38)	L376P	probably damaging	Het
Kdr	A	T	5: 75,972,260 (GRCm38)	Y119*	probably null	Het
Kif1a	T	G	1: 93,066,098 (GRCm38)	T377P	probably benign	Het
Lama5	C	A	2: 180,180,731 (GRCm38)	V2850L	probably damaging	Het
Lrp2	T	C	2: 69,483,208 (GRCm38)	Y2393C	probably damaging	Het
Mfsd13a	C	T	19: 46,368,324 (GRCm38)	Q255*	probably null	Het
Msh3	A	C	13: 92,235,588 (GRCm38)	D891E	probably damaging	Het
Msl2	A	G	9: 101,075,282 (GRCm38)	N2D	possibly damaging	Het
Myo19	T	C	11: 84,900,547 (GRCm38)	L476P	probably damaging	Het
Nbeal2	G	A	9: 110,638,618 (GRCm38)	R501W	probably damaging	Het
Nfasc	C	A	1: 132,621,049 (GRCm38)	K293N	probably damaging	Het
Npbwr1	A	T	1: 5,917,100 (GRCm38)	L65Q	probably damaging	Het
Nrbp1	T	A	5: 31,244,481 (GRCm38)	D34E	probably damaging	Het
Nup205	T	A	6: 35,243,936 (GRCm38)	V1891D	probably benign	Het
Or51g2	T	A	7: 102,973,968 (GRCm38)	N8I	possibly damaging	Het
Or5g29	T	A	2: 85,590,598 (GRCm38)	D19E	probably benign	Het
Or5k1b	T	C	16: 58,761,119 (GRCm38)	N19S	probably benign	Het
Or8g22	G	T	9: 39,047,083 (GRCm38)	C156*	probably null	Het
Oscp1	G	A	4: 126,082,990 (GRCm38)		probably null	Het
Pcdhgb7	A	G	18: 37,753,033 (GRCm38)	T419A	probably damaging	Het
Pdzph1	T	C	17: 58,974,126 (GRCm38)	D387G	probably benign	Het
Phc1	A	G	6: 122,335,031 (GRCm38)	F56S	probably damaging	Het
Pik3c2g	A	G	6: 139,622,063 (GRCm38)	E59G	possibly damaging	Het
Prickle1	G	T	15: 93,500,871 (GRCm38)	T692K	possibly damaging	Het
Rbm45	T	A	2: 76,376,394 (GRCm38)	L250Q	probably damaging	Het
Ror1	T	A	4: 100,407,911 (GRCm38)	M194K	probably damaging	Het
Rrbp1	T	A	2: 143,957,802 (GRCm38)		probably null	Het
Rundc3b	T	C	5: 8,512,348 (GRCm38)	K340R	probably null	Het
Sdk1	C	G	5: 142,094,657 (GRCm38)		probably null	Het
Skic2	A	G	17: 34,845,207 (GRCm38)	F501S	possibly damaging	Het
Slc20a1	T	A	2: 129,200,059 (GRCm38)	M114K	probably damaging	Het
Sorl1	A	C	9: 41,969,751 (GRCm38)	I2158S	probably benign	Het
Strip1	A	T	3: 107,626,795 (GRCm38)	F174L	probably benign	Het
Sucnr1	A	T	3: 60,086,278 (GRCm38)	I76L	probably benign	Het
Syt17	C	T	7: 118,408,019 (GRCm38)	V412I	probably benign	Het
Tie1	T	A	4: 118,489,653 (GRCm38)	H18L	probably benign	Het
Tpp1	T	G	7: 105,748,922 (GRCm38)	K345Q	probably damaging	Het
Trcg1	G	A	9: 57,241,569 (GRCm38)	M141I	possibly damaging	Het
Trpc4ap	T	C	2: 155,657,822 (GRCm38)	N260S	probably benign	Het
Vps41	C	A	13: 18,842,268 (GRCm38)	T512K	possibly damaging	Het
Vps52	A	T	17: 33,959,319 (GRCm38)	M147L	probably benign	Het
Ywhaq	A	G	12: 21,391,751 (GRCm38)		probably benign	Het
Zfp619	A	G	7: 39,534,963 (GRCm38)	N139S	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
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
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'- TTGGCATTCATCTCCCTGAG -3'
(R):5'- AGCCACTTGATGATCTAAACAACAG -3'

Sequencing Primer
(F):5'- TGGCATTCATCTCCCTGAGAAAAG -3'
(R):5'- GAACCACAAGTGGCATAG -3'

Posted On

2019-05-13