Incidental Mutation 'IGL00480:Scn5a'
ID 4790
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scn5a
Ensembl Gene ENSMUSG00000032511
Gene Name sodium channel, voltage-gated, type V, alpha
Synonyms Nav1.5c, mH1, Nav1.5, SkM2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00480
Quality Score
Status
Chromosome 9
Chromosomal Location 119312474-119408082 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119346604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 1016 (P1016Q)
Ref Sequence ENSEMBL: ENSMUSP00000066228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065196] [ENSMUST00000117911] [ENSMUST00000120420]
AlphaFold Q9JJV9
Predicted Effect possibly damaging
Transcript: ENSMUST00000065196
AA Change: P1016Q

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066228
Gene: ENSMUSG00000032511
AA Change: P1016Q

DomainStartEndE-ValueType
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: P1016Q

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000112838
Gene: ENSMUSG00000032511
AA Change: P1016Q

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000120420
AA Change: P1016Q

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113272
Gene: ENSMUSG00000032511
AA Change: P1016Q

DomainStartEndE-ValueType
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
Validation Efficiency
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c A T 2: 58,205,867 (GRCm39) V31E probably damaging Het
Cdc6 T C 11: 98,799,597 (GRCm39) V68A probably benign Het
Ceacam23 T A 7: 17,644,622 (GRCm39) S580T probably benign Het
Cfap46 C T 7: 139,240,605 (GRCm39) S56N probably damaging Het
Gtf3c1 C T 7: 125,243,430 (GRCm39) V1821I probably benign Het
Haus3 T C 5: 34,325,272 (GRCm39) E129G probably benign Het
Ogfr T C 2: 180,235,355 (GRCm39) probably benign Het
Pabpc1l G A 2: 163,884,237 (GRCm39) V325M probably damaging Het
Pou6f1 A G 15: 100,477,928 (GRCm39) probably benign Het
Ppp1r9a A T 6: 5,158,195 (GRCm39) D1201V possibly damaging Het
Ppp6r2 A G 15: 89,149,452 (GRCm39) probably benign Het
Selenot T A 3: 58,493,503 (GRCm39) probably benign Het
Smyd2 C T 1: 189,632,043 (GRCm39) R107Q probably damaging Het
Tgoln1 T C 6: 72,593,073 (GRCm39) K136E probably benign Het
Trio T C 15: 27,912,829 (GRCm39) probably benign Het
Usp24 T C 4: 106,225,303 (GRCm39) I645T probably damaging Het
Uts2r T A 11: 121,051,172 (GRCm39) M12K probably benign Het
Zfp772 T C 7: 7,207,115 (GRCm39) N192S probably benign Het
Other mutations in Scn5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Scn5a APN 9 119,315,290 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2012-04-20