Mutagenetix > Incidental Mutation

Incidental Mutation 'R6717:Scn1a'

529415

Institutional Source

Beutler Lab

Gene Symbol

Scn1a

Ensembl Gene

ENSMUSG00000064329

Gene Name

sodium channel, voltage-gated, type I, alpha

Synonyms

Nav1.1

MMRRC Submission

044835-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6717 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66101125-66271181 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66162631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 205 (E205G)

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: E205G

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

SMART Domains

Protein: ENSMUSP00000076697
Gene: ENSMUSG00000064329
AA Change: E205G

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: E205G

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

SMART Domains

Protein: ENSMUSP00000092558
Gene: ENSMUSG00000064329
AA Change: E205G

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: E205G

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

SMART Domains

Protein: ENSMUSP00000107985
Gene: ENSMUSG00000064329
AA Change: E205G

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: E205G

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

SMART Domains

Protein: ENSMUSP00000107990
Gene: ENSMUSG00000064329
AA Change: E205G

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: E205G

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

SMART Domains

Protein: ENSMUSP00000116881
Gene: ENSMUSG00000064329
AA Change: E205G

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

Meta Mutation Damage Score

0.8032

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

98% (47/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	C	T	5: 4,114,086 (GRCm39)	L3122F	probably damaging	Het
Atp6v1b1	A	T	6: 83,730,632 (GRCm39)		probably null	Het
Ccdc178	A	T	18: 22,153,946 (GRCm39)	V621E	probably damaging	Het
Cfap126	T	C	1: 170,941,671 (GRCm39)		probably null	Het
Cog2	T	C	8: 125,252,488 (GRCm39)	I64T	probably damaging	Het
Dhx9	A	C	1: 153,349,210 (GRCm39)		probably null	Het
Efcab7	A	G	4: 99,761,931 (GRCm39)	D407G	possibly damaging	Het
Eif2b5	G	T	16: 20,324,033 (GRCm39)	G459C	probably damaging	Het
Eml5	T	C	12: 98,793,765 (GRCm39)	E1168G	probably damaging	Het
Flnc	AGCTGTCAAGTATGCTG	AGCTG	6: 29,450,901 (GRCm39)		probably benign	Het
Fry	A	G	5: 150,419,777 (GRCm39)	T980A	probably benign	Het
Gabbr2	A	G	4: 46,787,574 (GRCm39)	V363A	possibly damaging	Het
Ggt6	T	A	11: 72,328,346 (GRCm39)	L244*	probably null	Het
Gprc6a	T	A	10: 51,491,233 (GRCm39)	I768F	probably damaging	Het
Grk1	G	A	8: 13,466,237 (GRCm39)	M560I	probably benign	Het
Hapln4	G	A	8: 70,537,740 (GRCm39)	E145K	probably damaging	Het
Hoxd9	C	T	2: 74,528,733 (GRCm39)	P112S	probably benign	Het
Ly6g6f	T	A	17: 35,304,550 (GRCm39)	M1L	probably benign	Het
Mast1	T	C	8: 85,644,383 (GRCm39)	T849A	probably benign	Het
Mob4	A	T	1: 55,175,872 (GRCm39)	M39L	possibly damaging	Het
Mrgpre	A	T	7: 143,335,260 (GRCm39)	L81Q	probably damaging	Het
Mst1	T	C	9: 107,957,774 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,411,559 (GRCm39)	R1502*	probably null	Het
Or4b13	T	A	2: 90,082,868 (GRCm39)	I155L	probably benign	Het
Or5ap2	T	A	2: 85,680,567 (GRCm39)	I257N	probably damaging	Het
Or9e1	T	C	11: 58,732,113 (GRCm39)	Y58H	probably damaging	Het
Pdc	A	G	1: 150,208,769 (GRCm39)	D84G	probably damaging	Het
Peak1	T	C	9: 56,114,523 (GRCm39)	N443D	probably benign	Het
Pkd1l3	T	A	8: 110,341,401 (GRCm39)	W85R	unknown	Het
Pramel31	G	T	4: 144,089,227 (GRCm39)	V182L	probably benign	Het
Rfc1	G	A	5: 65,459,347 (GRCm39)	Q190*	probably null	Het
Rfc1	A	G	5: 65,470,304 (GRCm39)	S68P	probably damaging	Het
Rnf145	T	C	11: 44,452,317 (GRCm39)	V432A	probably benign	Het
Ror2	A	G	13: 53,273,018 (GRCm39)	S204P	probably damaging	Het
Slc2a8	A	C	2: 32,866,189 (GRCm39)	M277R	probably damaging	Het
Slc4a1	T	C	11: 102,245,249 (GRCm39)	Y566C	probably damaging	Het
Slc6a12	A	G	6: 121,331,262 (GRCm39)	N185S	probably benign	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,157,482 (GRCm39)		probably benign	Het
Stk33	T	A	7: 108,926,823 (GRCm39)	T279S	possibly damaging	Het
Taok3	A	G	5: 117,379,015 (GRCm39)		probably benign	Het
Tlr11	A	G	14: 50,599,561 (GRCm39)	T516A	probably benign	Het
Tmem132c	T	A	5: 127,641,093 (GRCm39)	L1088Q	possibly damaging	Het
Tmem132d	T	A	5: 127,861,485 (GRCm39)	M879L	probably benign	Het
Tnk2	A	G	16: 32,489,687 (GRCm39)	E322G	probably damaging	Het
Ttc28	T	C	5: 111,433,302 (GRCm39)	V2081A	probably benign	Het
Ttn	C	T	2: 76,624,753 (GRCm39)		probably null	Het
Zfp105	T	C	9: 122,759,373 (GRCm39)	V348A	possibly damaging	Het
Zswim2	T	C	2: 83,745,753 (GRCm39)	R562G	probably benign	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	66,148,421 (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
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

Predicted Primers

PCR Primer
(F):5'- TCTGTAATGATGAATGGCAAGCAAG -3'
(R):5'- GCCTACCAAATGGCATCAAG -3'

Sequencing Primer
(F):5'- GGAGGCTCAGTTGAAAAAGTCTC -3'
(R):5'- GCAACTTACACTATTTAAAAGCAGC -3'

Posted On

2018-08-01