Incidental Mutation 'R4867:Scn5a'
ID 376248
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 042477-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4867 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 119312474-119408082 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 119379737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 182 (C182*)
Ref Sequence ENSEMBL: ENSMUSP00000113272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065196] [ENSMUST00000117911] [ENSMUST00000120420]
AlphaFold Q9JJV9
Predicted Effect probably null
Transcript: ENSMUST00000065196
AA Change: C182*
SMART Domains Protein: ENSMUSP00000066228
Gene: ENSMUSG00000032511
AA Change: C182*

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 null
Transcript: ENSMUST00000117911
AA Change: C182*
SMART Domains Protein: ENSMUSP00000112838
Gene: ENSMUSG00000032511
AA Change: C182*

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 probably null
Transcript: ENSMUST00000120420
AA Change: C182*
SMART Domains Protein: ENSMUSP00000113272
Gene: ENSMUSG00000032511
AA Change: C182*

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T C 8: 125,366,099 (GRCm39) I215V probably damaging Het
4921509C19Rik A T 2: 151,314,742 (GRCm39) L312* probably null Het
9930111J21Rik1 T A 11: 48,839,375 (GRCm39) probably null Het
Abca6 C A 11: 110,093,205 (GRCm39) V1023F probably benign Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Acsbg2 A G 17: 57,169,914 (GRCm39) I151T possibly damaging Het
Arid1a G A 4: 133,448,168 (GRCm39) S115L probably benign Het
B4galnt2 T C 11: 95,759,252 (GRCm39) D344G probably damaging Het
Ccdc40 T C 11: 119,122,614 (GRCm39) S139P probably benign Het
Ccnjl T C 11: 43,474,055 (GRCm39) V210A possibly damaging Het
Cdk5rap1 C T 2: 154,212,876 (GRCm39) probably null Het
Cfhr4 A T 1: 139,702,213 (GRCm39) probably null Het
Cog4 T C 8: 111,593,242 (GRCm39) V451A probably damaging Het
Crb1 A T 1: 139,170,752 (GRCm39) N818K probably damaging Het
Crtc1 T C 8: 70,855,164 (GRCm39) D152G probably damaging Het
Cse1l T A 2: 166,768,323 (GRCm39) I207N possibly damaging Het
Cux1 TGGCAGGCGCG TG 5: 136,303,815 (GRCm39) probably benign Het
Cyp2j13 T C 4: 95,947,235 (GRCm39) Y272C possibly damaging Het
Cyp4f16 T C 17: 32,769,724 (GRCm39) F445L possibly damaging Het
Dlc1 T C 8: 37,051,799 (GRCm39) H644R probably benign Het
Ecm2 A T 13: 49,684,821 (GRCm39) I643F probably damaging Het
Eogt A T 6: 97,097,108 (GRCm39) probably benign Het
Fbxo41 A C 6: 85,452,176 (GRCm39) S777A probably benign Het
Fga T A 3: 82,935,951 (GRCm39) D59E probably benign Het
Flt3 A T 5: 147,271,250 (GRCm39) V897D probably damaging Het
Fmn1 G T 2: 113,414,465 (GRCm39) probably null Het
Frem3 T C 8: 81,339,912 (GRCm39) L735P probably damaging Het
Ftmt A T 18: 52,465,125 (GRCm39) D147V possibly damaging Het
Gabpa T A 16: 84,654,356 (GRCm39) D344E probably benign Het
Gtf3a C T 5: 146,888,723 (GRCm39) Q145* probably null Het
Il36rn A T 2: 24,170,847 (GRCm39) N48I probably damaging Het
Iqca1 A G 1: 90,017,226 (GRCm39) L403S probably benign Het
Jrk C T 15: 74,579,069 (GRCm39) R72Q probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Krt12 T C 11: 99,307,789 (GRCm39) D433G possibly damaging Het
Lce1h A T 3: 92,670,770 (GRCm39) S127R unknown Het
Lrrc7 T G 3: 157,866,642 (GRCm39) Y1033S probably damaging Het
Macf1 A G 4: 123,365,993 (GRCm39) S1358P probably damaging Het
Mfsd1 T A 3: 67,495,320 (GRCm39) probably null Het
Mki67 T C 7: 135,301,585 (GRCm39) T1150A probably damaging Het
Nadk2 A G 15: 9,098,946 (GRCm39) I291M possibly damaging Het
Or13g1 T C 7: 85,955,491 (GRCm39) T277A probably benign Het
Or1j12 A C 2: 36,343,211 (GRCm39) M205L probably benign Het
Or2r2 A G 6: 42,464,031 (GRCm39) V32A probably benign Het
Or6e1 T A 14: 54,520,086 (GRCm39) T89S probably benign Het
Or7g17 A T 9: 18,768,862 (GRCm39) I305F probably benign Het
Parp14 T A 16: 35,677,697 (GRCm39) Y757F probably benign Het
Pcdh18 T C 3: 49,709,113 (GRCm39) Y734C probably damaging Het
Pcnx4 T C 12: 72,620,726 (GRCm39) S849P probably benign Het
Pds5a T C 5: 65,801,463 (GRCm39) K595E probably damaging Het
Prkg2 T A 5: 99,172,568 (GRCm39) Y49F probably benign Het
Prr5 G T 15: 84,624,967 (GRCm39) L46F probably benign Het
Ptgdr G T 14: 45,096,253 (GRCm39) P153Q probably damaging Het
Rbm12b2 T C 4: 12,094,805 (GRCm39) S555P probably damaging Het
Rhog T G 7: 101,889,357 (GRCm39) Y32S probably damaging Het
Rnf141 T C 7: 110,415,975 (GRCm39) T209A probably damaging Het
Rtkn2 T C 10: 67,837,757 (GRCm39) I103T probably damaging Het
Sema3a A G 5: 13,501,208 (GRCm39) N84D probably benign Het
Sema5a G T 15: 32,550,436 (GRCm39) M158I possibly damaging Het
Shprh T A 10: 11,040,301 (GRCm39) D71E probably benign Het
Slc26a8 A G 17: 28,882,608 (GRCm39) I239T probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Ston1 C T 17: 88,943,122 (GRCm39) A176V probably damaging Het
Sult2a5 T C 7: 13,357,976 (GRCm39) S3P probably benign Het
Tango6 T A 8: 107,545,158 (GRCm39) V1007E probably damaging Het
Tank G A 2: 61,408,979 (GRCm39) probably benign Het
Tas2r124 A G 6: 132,732,156 (GRCm39) Y155C probably damaging Het
Tenm3 G A 8: 48,688,856 (GRCm39) R2244W probably damaging Het
Thoc2l T C 5: 104,668,868 (GRCm39) I1130T possibly damaging Het
Tlk1 A T 2: 70,551,915 (GRCm39) Y585* probably null Het
Tmem221 C T 8: 72,007,784 (GRCm39) E214K probably benign Het
Tmem38a T C 8: 73,335,077 (GRCm39) V172A possibly damaging Het
Tspo2 C T 17: 48,755,705 (GRCm39) A146T possibly damaging Het
Ttc3 G A 16: 94,255,374 (GRCm39) A1268T probably damaging Het
Usp25 T A 16: 76,847,355 (GRCm39) D154E probably damaging Het
Usp34 T C 11: 23,401,999 (GRCm39) F2410L probably benign Het
Vmn1r128 T A 7: 21,083,939 (GRCm39) H214Q possibly damaging Het
Vmn1r24 A C 6: 57,933,421 (GRCm39) C32W probably damaging Het
Zfp931 T A 2: 177,709,855 (GRCm39) H177L probably damaging Het
Znrf1 T C 8: 112,264,198 (GRCm39) probably null Het
Other mutations in Scn5a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GAGCAAGACAGACACTCCTCTG -3'
(R):5'- CCACTGCGATTGATGACTCTG -3'

Sequencing Primer
(F):5'- GACACTCCTCTGTGGCATACTGTG -3'
(R):5'- ATGACTCTGGTGTGAGGAGC -3'
Posted On 2016-03-17