Mutagenetix > Incidental Mutation

Incidental Mutation 'R4133:Scn5a'

314750

Institutional Source

Beutler Lab

Gene Symbol

Scn5a

Ensembl Gene

ENSMUSG00000032511

Gene Name

sodium channel, voltage-gated, type V, alpha

Synonyms

Nav1.5c, mH1, Nav1.5, SkM2

MMRRC Submission

041637-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4133 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119312474-119408082 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119315438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1757 (T1757S)

Ref Sequence

ENSEMBL: ENSMUSP00000066228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065196] [ENSMUST00000117911] [ENSMUST00000120420]

AlphaFold

Q9JJV9

Predicted Effect

probably damaging
Transcript: ENSMUST00000065196
AA Change: T1757S

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

SMART Domains

Protein: ENSMUSP00000066228
Gene: ENSMUSG00000032511
AA Change: T1757S

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	130	423	2.4e-82	PFAM
Pfam:Na_trans_cytopl	478	667	5.2e-49	PFAM
Pfam:Ion_trans	716	950	1.1e-54	PFAM
Pfam:Na_trans_assoc	955	1203	2.9e-57	PFAM
Pfam:Ion_trans	1207	1484	2e-66	PFAM
Pfam:Ion_trans	1530	1786	7.2e-55	PFAM
Pfam:PKD_channel	1627	1780	3.5e-7	PFAM
IQ	1903	1925	5e-2	SMART
low complexity region	1961	1983	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117911
AA Change: T1757S

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112838
Gene: ENSMUSG00000032511
AA Change: T1757S

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	159	412	9.6e-76	PFAM
coiled coil region	413	451	N/A	INTRINSIC
Pfam:DUF3451	461	668	4.9e-44	PFAM
Pfam:Ion_trans	751	940	2.3e-46	PFAM
Pfam:Na_trans_assoc	955	1218	1.2e-73	PFAM
Pfam:Ion_trans	1244	1472	2e-56	PFAM
PDB:1BYY\|A	1474	1526	5e-29	PDB
Pfam:Ion_trans	1565	1774	1.5e-49	PFAM
Pfam:PKD_channel	1627	1781	2.6e-10	PFAM
IQ	1903	1925	5e-2	SMART
low complexity region	1961	1983	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120420
AA Change: T1756S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113272
Gene: ENSMUSG00000032511
AA Change: T1756S

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	159	412	4.5e-75	PFAM
coiled coil region	413	451	N/A	INTRINSIC
Pfam:DUF3451	461	668	7.4e-43	PFAM
Pfam:Ion_trans	751	940	1.2e-45	PFAM
Pfam:Na_trans_assoc	955	1217	1.6e-72	PFAM
Pfam:Ion_trans	1243	1471	1.1e-55	PFAM
PDB:1BYY\|A	1473	1525	5e-29	PDB
Pfam:Ion_trans	1564	1773	8.2e-49	PFAM
Pfam:PKD_channel	1626	1780	2.6e-9	PFAM
IQ	1902	1924	5e-2	SMART
low complexity region	1960	1982	N/A	INTRINSIC

Meta Mutation Damage Score

0.1047

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (77/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations in this gene die prenatally usually during organogenesis and may display decreased embryo size and abnormal cardiovascular system physiology. Heterozygous mice typically display abnormal heartbeats and defects in the function of the impulse conduction system. [provided by MGI curators]

Allele List at MGI

All alleles(11) : Targeted(9) Gene trapped(2)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	T	A	9: 60,677,280 (GRCm39)		noncoding transcript	Het
Aldh3b1	A	G	19: 3,970,808 (GRCm39)	I184T	probably damaging	Het
Arhgap42	C	T	9: 9,011,300 (GRCm39)		probably benign	Het
Arhgef4	A	G	1: 34,845,185 (GRCm39)	D1463G	probably damaging	Het
Arpc5	A	G	1: 152,644,622 (GRCm39)	T52A	probably benign	Het
Asb6	A	G	2: 30,718,247 (GRCm39)		probably benign	Het
Ash1l	T	C	3: 88,889,567 (GRCm39)	V482A	probably benign	Het
Bop1	T	C	15: 76,338,535 (GRCm39)	N469S	probably benign	Het
Btaf1	T	A	19: 36,939,138 (GRCm39)	N266K	probably benign	Het
Btla	T	C	16: 45,059,661 (GRCm39)	Y122H	probably damaging	Het
Cacna1g	A	G	11: 94,323,370 (GRCm39)	M1278T	probably damaging	Het
Cdc42bpb	A	G	12: 111,287,976 (GRCm39)	S524P	probably benign	Het
Cep78	A	G	19: 15,946,519 (GRCm39)	S438P	probably damaging	Het
Clca4a	T	G	3: 144,675,113 (GRCm39)	E171D	probably benign	Het
Cldn6	A	T	17: 23,900,467 (GRCm39)	I144F	probably damaging	Het
Cpd	G	A	11: 76,705,644 (GRCm39)	Q363*	probably null	Het
Cpn1	G	A	19: 43,974,723 (GRCm39)	P2L	possibly damaging	Het
Ddx31	A	G	2: 28,748,864 (GRCm39)	D264G	probably damaging	Het
Ddx39b	C	T	17: 35,472,065 (GRCm39)	S368L	probably damaging	Het
Ddx60	A	G	8: 62,425,254 (GRCm39)	K681E	probably damaging	Het
Dennd1c	A	C	17: 57,383,980 (GRCm39)	W15G	possibly damaging	Het
Dgkd	T	G	1: 87,869,223 (GRCm39)		probably null	Het
Dnah7c	G	T	1: 46,705,150 (GRCm39)	A2388S	probably benign	Het
Etv4	C	A	11: 101,661,324 (GRCm39)	K442N	probably damaging	Het
Fam234a	T	C	17: 26,432,532 (GRCm39)	D539G	probably damaging	Het
Fancm	A	G	12: 65,167,304 (GRCm39)	T1538A	probably benign	Het
Fbn2	A	T	18: 58,229,034 (GRCm39)	N725K	possibly damaging	Het
Fcer2a	T	A	8: 3,741,130 (GRCm39)	N4I	possibly damaging	Het
Fgd5	T	C	6: 92,046,418 (GRCm39)	V1229A	probably damaging	Het
Garin4	A	T	1: 190,895,205 (GRCm39)	N479K	probably benign	Het
Gm5471	A	T	15: 44,835,297 (GRCm39)		noncoding transcript	Het
Gm5478	T	A	15: 101,553,080 (GRCm39)	I331F	probably damaging	Het
Gm6729	C	A	10: 86,377,030 (GRCm39)		noncoding transcript	Het
Hectd4	G	T	5: 121,415,897 (GRCm39)		probably null	Het
Hspb3	A	C	13: 113,800,027 (GRCm39)	M1R	probably null	Het
Igkv10-95	T	C	6: 68,657,601 (GRCm39)	V19A	probably damaging	Het
Il1rap	A	G	16: 26,541,636 (GRCm39)	S626G	probably benign	Het
Ints9	A	G	14: 65,228,003 (GRCm39)	H103R	probably benign	Het
Itga4	T	A	2: 79,152,996 (GRCm39)	D894E	probably damaging	Het
Khsrp	T	C	17: 57,332,605 (GRCm39)	H225R	probably benign	Het
Lama1	T	C	17: 68,057,650 (GRCm39)	Y575H	probably damaging	Het
Lama1	A	T	17: 68,119,481 (GRCm39)	I2653F	probably damaging	Het
Map4k5	A	T	12: 69,892,497 (GRCm39)	L144Q	probably damaging	Het
Mcm5	A	G	8: 75,842,482 (GRCm39)	Y252C	probably damaging	Het
Mmgt2	A	G	11: 62,555,877 (GRCm39)	E75G	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Nckap5	A	G	1: 126,150,443 (GRCm39)	V162A	probably benign	Het
Nr3c2	T	C	8: 77,636,378 (GRCm39)	I493T	probably damaging	Het
Or2ag16	A	C	7: 106,352,286 (GRCm39)	L103R	probably damaging	Het
Or2t46	A	T	11: 58,471,901 (GRCm39)	Y77F	probably damaging	Het
Or9s15	T	C	1: 92,524,465 (GRCm39)	F75L	probably benign	Het
Papola	A	G	12: 105,765,917 (GRCm39)	T6A	possibly damaging	Het
Ppp1cc	G	A	5: 122,306,289 (GRCm39)	R36Q	probably benign	Het
Ptpro	G	T	6: 137,397,370 (GRCm39)	W81C	probably damaging	Het
Rasgrf2	A	G	13: 92,130,773 (GRCm39)	S162P	possibly damaging	Het
Rpusd2	T	C	2: 118,869,196 (GRCm39)	S540P	probably damaging	Het
Setbp1	T	C	18: 78,900,206 (GRCm39)	I1154V	probably benign	Het
Sirt1	T	C	10: 63,171,438 (GRCm39)	I209V	probably null	Het
Slco6c1	T	A	1: 97,009,218 (GRCm39)	I406L	probably benign	Het
Smc2	A	G	4: 52,450,947 (GRCm39)	E255G	probably damaging	Het
Snap91	C	A	9: 86,659,102 (GRCm39)	G477V	probably damaging	Het
Speg	A	G	1: 75,404,548 (GRCm39)	Q2780R	probably benign	Het
Spmap2	T	C	10: 79,415,884 (GRCm39)	T236A	probably damaging	Het
Ssh2	A	G	11: 77,312,095 (GRCm39)	Y196C	probably damaging	Het
Ssxb9	A	T	X: 8,235,845 (GRCm39)	T18S	probably damaging	Het
Stxbp5l	T	C	16: 37,028,481 (GRCm39)	I527M	possibly damaging	Het
Tex10	T	C	4: 48,468,968 (GRCm39)	Y69C	probably damaging	Het
Thoc3	T	C	13: 54,616,361 (GRCm39)	D87G	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trps1	T	C	15: 50,694,783 (GRCm39)	K213R	probably damaging	Het
Uggt1	A	T	1: 36,197,240 (GRCm39)	L1221Q	probably damaging	Het
Vmn2r3	T	A	3: 64,183,138 (GRCm39)	Y187F	probably damaging	Het
Washc2	G	A	6: 116,235,891 (GRCm39)	E1121K	probably damaging	Het
Zfx	T	C	X: 93,124,464 (GRCm39)	N360D	probably damaging	Het
Znhit3	A	G	11: 84,807,139 (GRCm39)	V10A	probably benign	Het

Other mutations in Scn5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Scn5a	APN	9	119,315,290 (GRCm39)	missense	probably damaging	1.00
IGL00480:Scn5a	APN	9	119,346,604 (GRCm39)	missense	possibly damaging	0.73
IGL00542:Scn5a	APN	9	119,321,192 (GRCm39)	missense	probably damaging	1.00
IGL00852:Scn5a	APN	9	119,366,748 (GRCm39)	missense	probably benign	0.26
IGL00895:Scn5a	APN	9	119,342,170 (GRCm39)	splice site	probably null
IGL00905:Scn5a	APN	9	119,365,567 (GRCm39)	missense	probably damaging	1.00
IGL01347:Scn5a	APN	9	119,391,507 (GRCm39)	nonsense	probably null
IGL01396:Scn5a	APN	9	119,363,770 (GRCm39)	missense	probably damaging	0.98
IGL01402:Scn5a	APN	9	119,315,536 (GRCm39)	missense	probably damaging	1.00
IGL01404:Scn5a	APN	9	119,315,536 (GRCm39)	missense	probably damaging	1.00
IGL01487:Scn5a	APN	9	119,391,689 (GRCm39)	start codon destroyed	probably null	0.90
IGL01612:Scn5a	APN	9	119,315,091 (GRCm39)	missense	possibly damaging	0.86
IGL02134:Scn5a	APN	9	119,314,958 (GRCm39)	missense	probably damaging	0.98
IGL02434:Scn5a	APN	9	119,362,859 (GRCm39)	missense	possibly damaging	0.83
IGL02698:Scn5a	APN	9	119,350,163 (GRCm39)	missense	probably damaging	1.00
IGL02717:Scn5a	APN	9	119,358,076 (GRCm39)	missense	probably benign	0.12
IGL02746:Scn5a	APN	9	119,379,703 (GRCm39)	missense	probably damaging	1.00
IGL02951:Scn5a	APN	9	119,324,751 (GRCm39)	missense	probably damaging	1.00
IGL03155:Scn5a	APN	9	119,341,248 (GRCm39)	missense	possibly damaging	0.74
IGL03188:Scn5a	APN	9	119,351,632 (GRCm39)	missense	probably damaging	1.00
IGL03268:Scn5a	APN	9	119,350,297 (GRCm39)	missense	probably damaging	1.00
IGL03287:Scn5a	APN	9	119,318,844 (GRCm39)	missense	probably damaging	1.00
IGL03328:Scn5a	APN	9	119,366,702 (GRCm39)	missense	probably benign	0.12
PIT4142001:Scn5a	UTSW	9	119,315,324 (GRCm39)	missense	probably damaging	1.00
PIT4520001:Scn5a	UTSW	9	119,363,636 (GRCm39)	missense	possibly damaging	0.56
R0026:Scn5a	UTSW	9	119,351,632 (GRCm39)	missense	probably damaging	1.00
R0044:Scn5a	UTSW	9	119,321,113 (GRCm39)	critical splice donor site	probably null
R0044:Scn5a	UTSW	9	119,321,113 (GRCm39)	critical splice donor site	probably null
R0267:Scn5a	UTSW	9	119,372,201 (GRCm39)	missense	probably damaging	0.98
R0313:Scn5a	UTSW	9	119,363,637 (GRCm39)	missense	probably damaging	1.00
R0360:Scn5a	UTSW	9	119,351,665 (GRCm39)	missense	probably damaging	0.99
R0364:Scn5a	UTSW	9	119,351,665 (GRCm39)	missense	probably damaging	0.99
R0369:Scn5a	UTSW	9	119,362,838 (GRCm39)	missense	probably damaging	0.99
R0512:Scn5a	UTSW	9	119,379,724 (GRCm39)	missense	probably damaging	1.00
R0681:Scn5a	UTSW	9	119,368,706 (GRCm39)	missense	probably damaging	0.96
R1163:Scn5a	UTSW	9	119,362,993 (GRCm39)	missense	probably damaging	1.00
R1469:Scn5a	UTSW	9	119,362,727 (GRCm39)	critical splice donor site	probably null
R1469:Scn5a	UTSW	9	119,362,727 (GRCm39)	critical splice donor site	probably null
R1470:Scn5a	UTSW	9	119,365,541 (GRCm39)	missense	possibly damaging	0.82
R1470:Scn5a	UTSW	9	119,365,541 (GRCm39)	missense	possibly damaging	0.82
R1530:Scn5a	UTSW	9	119,324,628 (GRCm39)	missense	probably damaging	1.00
R1532:Scn5a	UTSW	9	119,362,913 (GRCm39)	missense	probably damaging	1.00
R1544:Scn5a	UTSW	9	119,315,699 (GRCm39)	missense	probably damaging	1.00
R1588:Scn5a	UTSW	9	119,350,367 (GRCm39)	missense	probably damaging	1.00
R1597:Scn5a	UTSW	9	119,391,563 (GRCm39)	missense	probably damaging	0.99
R1607:Scn5a	UTSW	9	119,315,158 (GRCm39)	missense	probably damaging	1.00
R1657:Scn5a	UTSW	9	119,391,446 (GRCm39)	missense	probably damaging	1.00
R1664:Scn5a	UTSW	9	119,350,243 (GRCm39)	missense	possibly damaging	0.84
R1785:Scn5a	UTSW	9	119,350,195 (GRCm39)	missense	probably damaging	1.00
R1925:Scn5a	UTSW	9	119,358,085 (GRCm39)	missense	probably benign
R1956:Scn5a	UTSW	9	119,346,479 (GRCm39)	missense	possibly damaging	0.82
R2006:Scn5a	UTSW	9	119,365,546 (GRCm39)	missense	probably damaging	1.00
R2061:Scn5a	UTSW	9	119,314,717 (GRCm39)	missense	probably damaging	0.98
R2083:Scn5a	UTSW	9	119,321,189 (GRCm39)	missense	probably benign	0.45
R2180:Scn5a	UTSW	9	119,345,117 (GRCm39)	missense	probably benign
R2216:Scn5a	UTSW	9	119,342,151 (GRCm39)	missense	probably benign
R2216:Scn5a	UTSW	9	119,314,678 (GRCm39)	missense	probably benign	0.37
R2320:Scn5a	UTSW	9	119,359,022 (GRCm39)	critical splice donor site	probably null
R2377:Scn5a	UTSW	9	119,368,793 (GRCm39)	missense	probably damaging	1.00
R2510:Scn5a	UTSW	9	119,362,751 (GRCm39)	missense	probably benign	0.05
R3113:Scn5a	UTSW	9	119,314,738 (GRCm39)	missense	probably damaging	1.00
R3769:Scn5a	UTSW	9	119,381,142 (GRCm39)	critical splice acceptor site	probably benign
R4164:Scn5a	UTSW	9	119,324,844 (GRCm39)	missense	probably damaging	1.00
R4447:Scn5a	UTSW	9	119,379,693 (GRCm39)	missense	probably damaging	1.00
R4635:Scn5a	UTSW	9	119,358,051 (GRCm39)	missense	possibly damaging	0.47
R4734:Scn5a	UTSW	9	119,368,604 (GRCm39)	missense	probably damaging	0.98
R4829:Scn5a	UTSW	9	119,363,773 (GRCm39)	missense	probably benign	0.00
R4867:Scn5a	UTSW	9	119,379,737 (GRCm39)	nonsense	probably null
R5055:Scn5a	UTSW	9	119,351,632 (GRCm39)	missense	probably damaging	1.00
R5229:Scn5a	UTSW	9	119,365,042 (GRCm39)	missense	probably damaging	1.00
R5344:Scn5a	UTSW	9	119,363,073 (GRCm39)	missense	probably benign	0.25
R5424:Scn5a	UTSW	9	119,330,800 (GRCm39)	missense	probably damaging	1.00
R5517:Scn5a	UTSW	9	119,324,779 (GRCm39)	missense	probably damaging	1.00
R5526:Scn5a	UTSW	9	119,350,237 (GRCm39)	missense	probably damaging	1.00
R5560:Scn5a	UTSW	9	119,389,352 (GRCm39)	missense	probably damaging	1.00
R5719:Scn5a	UTSW	9	119,359,118 (GRCm39)	missense	possibly damaging	0.91
R5726:Scn5a	UTSW	9	119,362,913 (GRCm39)	missense	probably damaging	1.00
R5800:Scn5a	UTSW	9	119,330,732 (GRCm39)	missense	probably damaging	1.00
R5826:Scn5a	UTSW	9	119,350,399 (GRCm39)	missense	probably damaging	1.00
R6046:Scn5a	UTSW	9	119,391,440 (GRCm39)	missense	probably damaging	1.00
R6101:Scn5a	UTSW	9	119,351,716 (GRCm39)	missense	probably damaging	0.98
R6162:Scn5a	UTSW	9	119,351,621 (GRCm39)	missense	probably damaging	0.98
R6375:Scn5a	UTSW	9	119,372,422 (GRCm39)	missense	probably damaging	1.00
R6378:Scn5a	UTSW	9	119,315,102 (GRCm39)	missense	probably damaging	1.00
R6464:Scn5a	UTSW	9	119,363,646 (GRCm39)	missense	probably damaging	1.00
R6794:Scn5a	UTSW	9	119,364,955 (GRCm39)	missense	probably damaging	0.98
R6799:Scn5a	UTSW	9	119,324,688 (GRCm39)	missense	possibly damaging	0.62
R6850:Scn5a	UTSW	9	119,330,815 (GRCm39)	missense	possibly damaging	0.92
R6858:Scn5a	UTSW	9	119,321,156 (GRCm39)	missense	probably benign	0.11
R6861:Scn5a	UTSW	9	119,359,089 (GRCm39)	missense	probably damaging	1.00
R6875:Scn5a	UTSW	9	119,315,710 (GRCm39)	missense	probably damaging	1.00
R6989:Scn5a	UTSW	9	119,315,395 (GRCm39)	missense	probably damaging	1.00
R7009:Scn5a	UTSW	9	119,314,996 (GRCm39)	missense	probably damaging	1.00
R7064:Scn5a	UTSW	9	119,318,977 (GRCm39)	missense	probably damaging	0.99
R7145:Scn5a	UTSW	9	119,315,437 (GRCm39)	missense	probably damaging	1.00
R7212:Scn5a	UTSW	9	119,372,451 (GRCm39)	missense	possibly damaging	0.94
R7238:Scn5a	UTSW	9	119,320,610 (GRCm39)	missense	possibly damaging	0.73
R7266:Scn5a	UTSW	9	119,391,626 (GRCm39)	missense	probably benign	0.37
R7348:Scn5a	UTSW	9	119,364,899 (GRCm39)	missense	probably benign	0.00
R7399:Scn5a	UTSW	9	119,315,596 (GRCm39)	missense	probably damaging	1.00
R7453:Scn5a	UTSW	9	119,351,656 (GRCm39)	missense	possibly damaging	0.82
R7495:Scn5a	UTSW	9	119,372,200 (GRCm39)	missense	probably damaging	0.99
R7681:Scn5a	UTSW	9	119,359,043 (GRCm39)	missense	probably benign	0.01
R7729:Scn5a	UTSW	9	119,324,606 (GRCm39)	missense	probably damaging	1.00
R7791:Scn5a	UTSW	9	119,372,402 (GRCm39)	missense	possibly damaging	0.47
R7794:Scn5a	UTSW	9	119,358,153 (GRCm39)	missense	probably damaging	0.99
R7873:Scn5a	UTSW	9	119,327,193 (GRCm39)	missense	probably damaging	1.00
R7951:Scn5a	UTSW	9	119,358,145 (GRCm39)	missense	probably damaging	1.00
R8154:Scn5a	UTSW	9	119,391,611 (GRCm39)	missense	possibly damaging	0.48
R8306:Scn5a	UTSW	9	119,350,357 (GRCm39)	missense	probably damaging	1.00
R8329:Scn5a	UTSW	9	119,365,030 (GRCm39)	missense	probably damaging	0.96
R8390:Scn5a	UTSW	9	119,368,604 (GRCm39)	missense	possibly damaging	0.59
R8536:Scn5a	UTSW	9	119,368,811 (GRCm39)	missense	probably damaging	1.00
R8922:Scn5a	UTSW	9	119,363,766 (GRCm39)	missense	probably benign
R9000:Scn5a	UTSW	9	119,321,171 (GRCm39)	missense	possibly damaging	0.95
R9015:Scn5a	UTSW	9	119,381,142 (GRCm39)	critical splice acceptor site	probably benign
R9272:Scn5a	UTSW	9	119,315,717 (GRCm39)	missense	probably damaging	1.00
R9394:Scn5a	UTSW	9	119,324,682 (GRCm39)	missense	probably damaging	1.00
R9448:Scn5a	UTSW	9	119,381,127 (GRCm39)	missense	probably damaging	0.99
R9511:Scn5a	UTSW	9	119,351,611 (GRCm39)	missense	probably benign	0.00
R9563:Scn5a	UTSW	9	119,315,803 (GRCm39)	missense	probably damaging	1.00
R9593:Scn5a	UTSW	9	119,315,839 (GRCm39)	missense	probably damaging	1.00
X0023:Scn5a	UTSW	9	119,346,835 (GRCm39)	missense	probably damaging	1.00
X0065:Scn5a	UTSW	9	119,314,735 (GRCm39)	missense	probably damaging	1.00
Z1177:Scn5a	UTSW	9	119,362,997 (GRCm39)	missense	probably benign	0.04
Z1177:Scn5a	UTSW	9	119,351,584 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATACTCAATGAACTGGGTGGCC -3'
(R):5'- ACTTTGCCTACGTCAAGTGG -3'

Sequencing Primer
(F):5'- GCCTCCGGGTCGAACTTCTC -3'
(R):5'- TGGCATCGACGACATGTTC -3'

Posted On

2015-05-14