Mutagenetix > Incidental Mutation

Incidental Mutation 'R6464:Scn5a'

517746

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

044597-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6464 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119312474-119408082 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119363646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 498 (D498G)

Ref Sequence

ENSEMBL: ENSMUSP00000113272 (fasta)

Gene Model

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

AlphaFold

Q9JJV9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065196
AA Change: D498G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000066228
Gene: ENSMUSG00000032511
AA Change: D498G

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: D498G

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112838
Gene: ENSMUSG00000032511
AA Change: D498G

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: D498G

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

SMART Domains

Protein: ENSMUSP00000113272
Gene: ENSMUSG00000032511
AA Change: D498G

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (48/48)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,265,354 (GRCm39)	S769T	probably damaging	Het
Apoe	G	A	7: 19,431,461 (GRCm39)	T52M	probably damaging	Het
Arhgef10l	A	C	4: 140,314,126 (GRCm39)	M230R	probably benign	Het
Cdkl4	A	T	17: 80,832,781 (GRCm39)	I321N	probably benign	Het
Ceacam5	T	C	7: 17,481,391 (GRCm39)		probably null	Het
Cfap70	T	C	14: 20,451,107 (GRCm39)		probably null	Het
Clasp2	A	G	9: 113,602,785 (GRCm39)	Y195C	probably damaging	Het
Clip2	T	C	5: 134,520,779 (GRCm39)	I999V	probably benign	Het
Cntnap5a	A	G	1: 116,112,138 (GRCm39)	D476G	probably benign	Het
Col6a6	C	T	9: 105,666,152 (GRCm39)	M1I	probably null	Het
Cyp27a1	T	C	1: 74,775,047 (GRCm39)	V292A	possibly damaging	Het
Cyp2c29	A	G	19: 39,317,669 (GRCm39)	Y385C	probably damaging	Het
Dsg3	A	C	18: 20,666,583 (GRCm39)	R597S	probably benign	Het
Fam131c	T	C	4: 141,109,653 (GRCm39)	I95T	probably damaging	Het
Fam13b	A	T	18: 34,606,684 (GRCm39)	C302*	probably null	Het
Fkbp15	T	C	4: 62,226,315 (GRCm39)	K745E	possibly damaging	Het
Flg	T	A	3: 93,188,688 (GRCm39)		probably benign	Het
Gm11559	T	C	11: 99,755,542 (GRCm39)	C64R	unknown	Het
Helt	T	C	8: 46,745,571 (GRCm39)	D104G	probably damaging	Het
Helz2	T	C	2: 180,876,862 (GRCm39)	T1211A	probably benign	Het
Ifna9	T	C	4: 88,510,487 (GRCm39)	R46G	possibly damaging	Het
Kif20b	G	A	19: 34,911,841 (GRCm39)	V235I	probably benign	Het
Kif7	A	G	7: 79,363,842 (GRCm39)	V22A	possibly damaging	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Lipf	A	T	19: 33,950,944 (GRCm39)	Y305F	probably benign	Het
Lpar1	A	G	4: 58,486,875 (GRCm39)	L132P	possibly damaging	Het
Magi1	A	T	6: 93,676,770 (GRCm39)	V834E	probably damaging	Het
Meltf	T	C	16: 31,709,594 (GRCm39)	Y432H	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Myo1f	T	C	17: 33,795,621 (GRCm39)	L59P	probably damaging	Het
Naa25	G	A	5: 121,556,024 (GRCm39)	D271N	probably damaging	Het
Or10ag55-ps1	A	T	2: 87,139,951 (GRCm39)	I273F	probably damaging	Het
Or8u3-ps	A	T	2: 85,952,752 (GRCm39)	I162F	possibly damaging	Het
Otoa	A	G	7: 120,701,828 (GRCm39)	Q169R	probably damaging	Het
Pde4dip	C	T	3: 97,617,660 (GRCm39)	D1723N	probably damaging	Het
Ptdss2	T	C	7: 140,732,124 (GRCm39)	V175A	probably damaging	Het
Rdh8	G	T	9: 20,734,696 (GRCm39)	R121L	probably damaging	Het
Rpl23	T	C	11: 97,669,111 (GRCm39)		probably null	Het
Slc39a14	G	C	14: 70,544,177 (GRCm39)	L470V	probably damaging	Het
Smok2a	C	T	17: 13,445,317 (GRCm39)	A298V	probably damaging	Het
Tesk2	A	C	4: 116,660,046 (GRCm39)	D388A	probably damaging	Het
Tnik	G	A	3: 28,666,119 (GRCm39)		probably null	Het
Ube3a	T	A	7: 58,925,931 (GRCm39)	Y236*	probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vinac1	T	C	2: 128,881,465 (GRCm39)	T154A	possibly damaging	Het
Vmn1r74	A	T	7: 11,581,131 (GRCm39)	I144L	possibly damaging	Het
Vmn2r1	G	A	3: 64,008,766 (GRCm39)	D482N	probably benign	Het
Vwf	T	C	6: 125,616,363 (GRCm39)		probably null	Het
Wdr97	A	G	15: 76,246,977 (GRCm39)	T1413A	probably benign	Het
Zfp703	C	G	8: 27,469,355 (GRCm39)	P340A	probably damaging	Het
Znfx1	T	C	2: 166,888,842 (GRCm39)	S789G	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
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
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'- AGGAGGCAGCATTAACACAC -3'
(R):5'- GTTTCTCTGTGACCCAAACACC -3'

Sequencing Primer
(F):5'- TCCCCCAATTTAAGAATGACTAAGGG -3'
(R):5'- TCTGTGACCCAAACACCCTTCC -3'

Posted On

2018-05-21