Incidental Mutation 'R0267:Scn5a'
ID 35005
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 038493-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0267 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 119312474-119408082 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119372201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 223 (V223I)
Ref Sequence ENSEMBL: ENSMUSP00000113272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065196] [ENSMUST00000117911] [ENSMUST00000120420]
AlphaFold Q9JJV9
Predicted Effect probably damaging
Transcript: ENSMUST00000065196
AA Change: V223I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066228
Gene: ENSMUSG00000032511
AA Change: V223I

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
SMART Domains Protein: ENSMUSP00000112838
Gene: ENSMUSG00000032511

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 damaging
Transcript: ENSMUST00000120420
AA Change: V223I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113272
Gene: ENSMUSG00000032511
AA Change: V223I

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
Meta Mutation Damage Score 0.5029 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.7%
  • 10x: 96.2%
  • 20x: 94.0%
Validation Efficiency 97% (64/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,046,105 (GRCm39) F1721S probably damaging Het
Adgrb1 G A 15: 74,401,238 (GRCm39) R78H probably damaging Het
Adgrd1 G A 5: 129,216,658 (GRCm39) A342T probably benign Het
Adrb1 A T 19: 56,711,923 (GRCm39) K374* probably null Het
Aldh18a1 C A 19: 40,562,233 (GRCm39) V264F probably benign Het
Aldh1l2 C T 10: 83,358,551 (GRCm39) probably benign Het
Alox15 T A 11: 70,236,979 (GRCm39) H393L probably damaging Het
Aox1 A G 1: 58,378,605 (GRCm39) probably benign Het
Appbp2 T C 11: 85,092,288 (GRCm39) Y297C probably damaging Het
Atxn2l T G 7: 126,092,379 (GRCm39) Q950P probably damaging Het
Bicd1 A T 6: 149,418,540 (GRCm39) D737V probably damaging Het
C9 T C 15: 6,496,939 (GRCm39) I212T probably benign Het
Ccdc63 A T 5: 122,255,107 (GRCm39) probably benign Het
Chst1 C A 2: 92,443,951 (GRCm39) P141Q probably damaging Het
Cped1 T A 6: 22,119,475 (GRCm39) F311L probably damaging Het
D6Wsu163e T A 6: 126,923,454 (GRCm39) H113Q probably benign Het
Dcn A T 10: 97,342,345 (GRCm39) probably benign Het
Dmbx1 C T 4: 115,775,309 (GRCm39) A324T probably benign Het
Dock10 G T 1: 80,490,171 (GRCm39) Q1618K probably damaging Het
Dpyd A G 3: 118,710,921 (GRCm39) E443G probably benign Het
Espl1 T C 15: 102,221,452 (GRCm39) V953A possibly damaging Het
Exosc10 T C 4: 148,647,213 (GRCm39) L174P probably damaging Het
Foxg1 A G 12: 49,432,365 (GRCm39) Y366C probably damaging Het
Fxyd3 T C 7: 30,770,159 (GRCm39) probably benign Het
Gbp2 T C 3: 142,335,867 (GRCm39) V189A probably benign Het
Gins4 T C 8: 23,719,426 (GRCm39) probably benign Het
Gm12789 A G 4: 101,845,319 (GRCm39) T3A probably benign Het
Gnb1l T C 16: 18,366,839 (GRCm39) probably benign Het
Gtpbp3 T C 8: 71,944,141 (GRCm39) L295S probably damaging Het
Hrh4 C A 18: 13,155,455 (GRCm39) Y331* probably null Het
Hsd11b1 A T 1: 192,923,705 (GRCm39) Y52N probably damaging Het
Jam3 A G 9: 27,017,701 (GRCm39) I29T probably benign Het
Kctd16 T A 18: 40,663,930 (GRCm39) I353N probably benign Het
Lama4 G T 10: 38,904,635 (GRCm39) G246C probably damaging Het
Lhx3 T A 2: 26,093,040 (GRCm39) M137L probably benign Het
Morc2a T C 11: 3,628,567 (GRCm39) I340T probably benign Het
Myo7a A C 7: 97,703,831 (GRCm39) I1969S probably benign Het
Or14a258 T C 7: 86,035,475 (GRCm39) E131G possibly damaging Het
Or5b116 T A 19: 13,422,792 (GRCm39) C139S probably damaging Het
Or6n1 A G 1: 173,916,732 (GRCm39) N42S probably damaging Het
Pclo T C 5: 14,731,194 (GRCm39) L3232P unknown Het
Polr1a T G 6: 71,951,123 (GRCm39) I1407M probably damaging Het
Ppip5k2 A G 1: 97,656,722 (GRCm39) V817A probably damaging Het
Rbfox3 T C 11: 118,386,066 (GRCm39) T280A probably benign Het
Rfx3 T C 19: 27,771,188 (GRCm39) D521G probably benign Het
Sgsm3 T G 15: 80,890,803 (GRCm39) M119R probably damaging Het
Slc6a7 T A 18: 61,129,783 (GRCm39) M608L probably benign Het
Slit2 A G 5: 48,339,673 (GRCm39) probably benign Het
Steap2 T A 5: 5,723,561 (GRCm39) I440F probably benign Het
Syn2 T G 6: 115,231,111 (GRCm39) probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tfb2m G A 1: 179,361,203 (GRCm39) H262Y probably benign Het
Trmt1l A G 1: 151,333,426 (GRCm39) probably benign Het
Trpm6 C A 19: 18,800,742 (GRCm39) P819T probably benign Het
Ttn G A 2: 76,574,033 (GRCm39) A25620V probably damaging Het
Ubn2 T C 6: 38,459,553 (GRCm39) probably null Het
Vars1 T C 17: 35,230,572 (GRCm39) probably benign Het
Vip A T 10: 5,594,004 (GRCm39) D119V possibly damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Vps33b T C 7: 79,935,802 (GRCm39) I405T possibly damaging Het
Zbtb21 T A 16: 97,753,300 (GRCm39) S356C probably damaging Het
Zdhhc6 A T 19: 55,297,362 (GRCm39) S237T probably benign Het
Zfp142 G A 1: 74,615,223 (GRCm39) A427V probably benign Het
Zfp692 T A 11: 58,205,140 (GRCm39) V463E possibly damaging Het
Zmynd8 A T 2: 165,670,322 (GRCm39) I384N probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- ATTTTGGGGAAGCACTGGGGAC -3'
(R):5'- CCCCGCTTTGTAACTTGCGGTAAC -3'

Sequencing Primer
(F):5'- AGGGAGATTCTTTCACTGCC -3'
(R):5'- TCAGTTATTCCAGGTAAGGCCAG -3'
Posted On 2013-05-09