Mutagenetix > Incidental Mutation

Incidental Mutation 'R1925:Scn5a'

213360

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

039943-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1925 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119312474-119408082 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119358085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 719 (A719T)

Ref Sequence

ENSEMBL: ENSMUSP00000113272 (fasta)

Gene Model

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

AlphaFold

Q9JJV9

Predicted Effect

probably benign
Transcript: ENSMUST00000065196
AA Change: A719T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066228
Gene: ENSMUSG00000032511
AA Change: A719T

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

probably benign
Transcript: ENSMUST00000117911
AA Change: A719T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112838
Gene: ENSMUSG00000032511
AA Change: A719T

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 benign
Transcript: ENSMUST00000120420
AA Change: A719T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113272
Gene: ENSMUSG00000032511
AA Change: A719T

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

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

99% (79/80)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,617,333 (GRCm39)	H577R	probably damaging	Het
Acvr1	T	C	2: 58,337,661 (GRCm39)	M474V	probably damaging	Het
Adam1a	A	T	5: 121,657,513 (GRCm39)	C593*	probably null	Het
Agap2	A	G	10: 126,926,744 (GRCm39)	N927S	probably damaging	Het
Ahctf1	T	C	1: 179,598,218 (GRCm39)	H958R	probably damaging	Het
Apaf1	A	G	10: 90,835,581 (GRCm39)	V1088A	probably damaging	Het
Brpf1	G	T	6: 113,296,891 (GRCm39)	K958N	probably damaging	Het
Cadps	A	G	14: 12,705,726 (GRCm38)	I223T	probably damaging	Het
Catsperg2	T	C	7: 29,397,189 (GRCm39)	M1105V	probably benign	Het
Clasp2	T	A	9: 113,735,265 (GRCm39)	F1033L	possibly damaging	Het
Col4a3	T	A	1: 82,678,094 (GRCm39)	I1232N	unknown	Het
Col4a3	T	G	1: 82,689,595 (GRCm39)		probably benign	Het
Comtd1	T	G	14: 21,897,731 (GRCm39)	E134A	probably damaging	Het
Cyp2c55	A	T	19: 39,022,821 (GRCm39)	T320S	probably benign	Het
Dlx2	T	C	2: 71,376,522 (GRCm39)	N72S	probably benign	Het
Dnhd1	T	A	7: 105,301,459 (GRCm39)	V272E	probably damaging	Het
Dnhd1	T	A	7: 105,323,061 (GRCm39)	I523N	probably damaging	Het
Dpysl3	T	A	18: 43,465,996 (GRCm39)	I140F	probably damaging	Het
Elmod2	G	A	8: 84,048,093 (GRCm39)	A123V	probably benign	Het
Etv4	T	C	11: 101,662,507 (GRCm39)		probably benign	Het
F3	A	T	3: 121,523,032 (GRCm39)	T81S	probably damaging	Het
Faf2	C	T	13: 54,799,865 (GRCm39)	A224V	probably damaging	Het
Fbn1	A	T	2: 125,205,549 (GRCm39)	M1109K	probably damaging	Het
Fnbp4	A	G	2: 90,596,187 (GRCm39)	E586G	probably damaging	Het
Gm10428	G	T	11: 62,644,179 (GRCm39)		probably benign	Het
Gm5884	A	T	6: 128,622,050 (GRCm39)		noncoding transcript	Het
Gm6471	T	A	7: 142,385,319 (GRCm39)		noncoding transcript	Het
Gtse1	T	C	15: 85,757,939 (GRCm39)	V515A	probably benign	Het
H2-M2	T	C	17: 37,793,391 (GRCm39)	E205G	probably damaging	Het
Ido1	T	A	8: 25,075,306 (GRCm39)	T259S	possibly damaging	Het
Il1r2	A	G	1: 40,154,308 (GRCm39)	Y225C	probably damaging	Het
Kcnq3	T	G	15: 65,876,658 (GRCm39)	D495A	possibly damaging	Het
Lrrc49	T	C	9: 60,556,773 (GRCm39)	N321D	probably benign	Het
Lztr1	G	T	16: 17,341,247 (GRCm39)	R291L	probably damaging	Het
Micu1	C	T	10: 59,568,983 (GRCm39)		probably benign	Het
Msh5	C	T	17: 35,248,928 (GRCm39)	V702I	probably benign	Het
Myh1	T	C	11: 67,101,996 (GRCm39)	I792T	probably benign	Het
Nav1	T	A	1: 135,534,967 (GRCm39)		probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or11i1	C	T	3: 106,729,688 (GRCm39)	M62I	probably damaging	Het
Or5ac22	A	G	16: 59,135,027 (GRCm39)	S248P	probably damaging	Het
Or8u9	T	C	2: 86,001,354 (GRCm39)	D269G	probably benign	Het
Otof	G	C	5: 30,551,532 (GRCm39)	N340K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Plek2	T	A	12: 78,941,664 (GRCm39)	Y155F	probably damaging	Het
Ppa1	T	A	10: 61,487,388 (GRCm39)	Y38*	probably null	Het
Pramel22	T	A	4: 143,381,025 (GRCm39)	T333S	probably damaging	Het
Prmt9	T	A	8: 78,303,968 (GRCm39)	C684S	possibly damaging	Het
Rasl10a	A	G	11: 5,009,473 (GRCm39)	D87G	possibly damaging	Het
Rtn4rl1	C	A	11: 75,156,864 (GRCm39)	P432Q	probably benign	Het
Scd4	T	G	19: 44,329,823 (GRCm39)	Y265D	probably damaging	Het
Sdk1	T	A	5: 142,171,040 (GRCm39)	F1968I	probably benign	Het
Sh3bp5	T	C	14: 31,157,880 (GRCm39)	E12G	probably benign	Het
Slc6a12	T	A	6: 121,337,485 (GRCm39)	F390I	probably benign	Het
Snapin	A	T	3: 90,397,539 (GRCm39)	D77E	possibly damaging	Het
Sox2	G	T	3: 34,704,820 (GRCm39)	E86*	probably null	Het
Sparcl1	A	G	5: 104,241,220 (GRCm39)	L68P	probably benign	Het
Sptb	T	A	12: 76,669,027 (GRCm39)	E562V	probably damaging	Het
Taar3	A	T	10: 23,826,483 (GRCm39)	H343L	probably benign	Het
Tanc1	T	A	2: 59,555,095 (GRCm39)	V51E	possibly damaging	Het
Tbc1d22a	T	C	15: 86,123,350 (GRCm39)	S128P	probably damaging	Het
Thada	A	G	17: 84,751,927 (GRCm39)	S350P	probably benign	Het
Tmem161b	T	C	13: 84,408,348 (GRCm39)	V93A	probably benign	Het
Tnn	T	C	1: 159,924,799 (GRCm39)	Y1185C	probably damaging	Het
Trim43a	T	C	9: 88,464,371 (GRCm39)	V94A	probably benign	Het
Ttll12	C	T	15: 83,465,976 (GRCm39)	E407K	probably benign	Het
Ttn	T	C	2: 76,555,856 (GRCm39)	E30383G	probably damaging	Het
Vmn1r29	T	A	6: 58,285,087 (GRCm39)	M269K	possibly damaging	Het
Vmn2r117	A	G	17: 23,697,363 (GRCm39)	S110P	probably benign	Het
Vmn2r6	C	A	3: 64,463,698 (GRCm39)	V290L	possibly damaging	Het
Vmn2r8	A	T	5: 108,950,019 (GRCm39)	L276Q	probably damaging	Het
Zan	C	A	5: 137,423,904 (GRCm39)	C2665F	unknown	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp983	A	G	17: 21,880,933 (GRCm39)	H287R	probably damaging	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
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
R4133:Scn5a	UTSW	9	119,315,438 (GRCm39)	missense	probably damaging	1.00
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'- AGCCCCTTTGATGTTCAGAATC -3'
(R):5'- AGACCTTTCTAGAATGCCACCC -3'

Sequencing Primer
(F):5'- AGAATCCTTTCCCCATGAGCG -3'
(R):5'- ACCCGATGCAGATGACTTG -3'

Posted On

2014-07-14