Incidental Mutation 'IGL03171:Scn4a'
ID 411831
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scn4a
Ensembl Gene ENSMUSG00000001027
Gene Name sodium channel, voltage-gated, type IV, alpha
Synonyms mH2, SkM1, Nav1.4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03171
Quality Score
Status
Chromosome 11
Chromosomal Location 106209418-106244114 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106236418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 281 (V281L)
Ref Sequence ENSEMBL: ENSMUSP00000021056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021056]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021056
AA Change: V281L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: V281L

DomainStartEndE-ValueType
Pfam:Ion_trans 130 452 1.1e-80 PFAM
low complexity region 473 491 N/A INTRINSIC
Pfam:Ion_trans 571 805 4.2e-56 PFAM
Pfam:Na_trans_assoc 810 1020 3.2e-59 PFAM
Pfam:Ion_trans 1024 1299 1.4e-64 PFAM
Pfam:Ion_trans 1346 1603 6.1e-55 PFAM
Pfam:PKD_channel 1441 1598 1.4e-6 PFAM
IQ 1720 1742 2.5e-2 SMART
low complexity region 1815 1827 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174877
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous or homozygous for a knock-in allele develop myotonia, increased myofiber damage, K+-sensitive paralysis and susceptibility to delayed weakness during recovery from fatigue. Homozygotes show perinatal lethality, low survival rate, unusual hind-limb clasping and reduced body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T A 6: 83,139,377 (GRCm39) F434Y possibly damaging Het
Adam19 G T 11: 46,029,681 (GRCm39) A709S probably damaging Het
Adgrf3 A T 5: 30,401,292 (GRCm39) L42Q probably damaging Het
D430041D05Rik T C 2: 104,071,508 (GRCm39) N1264S possibly damaging Het
Dnah9 T G 11: 65,872,067 (GRCm39) K2721T probably benign Het
Efr3b C T 12: 4,018,622 (GRCm39) A575T probably benign Het
Esco1 T C 18: 10,594,263 (GRCm39) E341G probably damaging Het
Ezh2 G A 6: 47,517,715 (GRCm39) R574* probably null Het
Fam169a G T 13: 97,246,522 (GRCm39) probably benign Het
Fry T C 5: 150,304,274 (GRCm39) Y555H probably damaging Het
Gm17175 A C 14: 51,809,065 (GRCm39) S100R probably damaging Het
Gm527 T C 12: 64,967,931 (GRCm39) Y118H probably damaging Het
H2-M10.4 G T 17: 36,772,142 (GRCm39) T202N probably damaging Het
Ift70a1 C T 2: 75,810,851 (GRCm39) A411T probably benign Het
Igf1 A T 10: 87,700,683 (GRCm39) T36S probably damaging Het
Ints8 C T 4: 11,231,702 (GRCm39) V428I probably benign Het
Itga6 G A 2: 71,671,673 (GRCm39) probably null Het
Jmjd1c A G 10: 67,061,277 (GRCm39) E1210G possibly damaging Het
Kdm2a A T 19: 4,406,792 (GRCm39) V134E probably damaging Het
Limch1 C A 5: 67,191,537 (GRCm39) N947K possibly damaging Het
Met T C 6: 17,562,272 (GRCm39) probably benign Het
Neb A G 2: 52,106,376 (GRCm39) probably benign Het
Ogg1 A G 6: 113,310,375 (GRCm39) I274V possibly damaging Het
Ola1 A T 2: 72,987,197 (GRCm39) I145K probably benign Het
Or2r11 G A 6: 42,437,464 (GRCm39) T163I possibly damaging Het
Pacrg A G 17: 10,795,462 (GRCm39) V166A possibly damaging Het
Pira2 T A 7: 3,845,604 (GRCm39) E260V probably damaging Het
Prickle3 T C X: 7,531,526 (GRCm39) C277R probably damaging Het
Psen1 A G 12: 83,761,638 (GRCm39) T147A probably damaging Het
Pxk C T 14: 8,151,014 (GRCm38) probably benign Het
Scn11a G A 9: 119,648,913 (GRCm39) P50L probably benign Het
Shcbp1 A G 8: 4,789,166 (GRCm39) I551T probably benign Het
Snx13 T A 12: 35,150,539 (GRCm39) I281N probably benign Het
Spata31e4 T A 13: 50,856,388 (GRCm39) S675R probably benign Het
Spopfm1 C A 3: 94,173,762 (GRCm39) H257N probably benign Het
Tdo2 T C 3: 81,874,336 (GRCm39) K209E probably benign Het
Trip6 C T 5: 137,311,146 (GRCm39) R190Q probably benign Het
Ubqln1 T A 13: 58,328,672 (GRCm39) E426D probably damaging Het
Zfp607b C A 7: 27,393,020 (GRCm39) N49K possibly damaging Het
Other mutations in Scn4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Scn4a APN 11 106,210,745 (GRCm39) missense probably benign
IGL00846:Scn4a APN 11 106,218,944 (GRCm39) missense probably benign 0.03
IGL01063:Scn4a APN 11 106,221,190 (GRCm39) missense possibly damaging 0.91
IGL01450:Scn4a APN 11 106,215,487 (GRCm39) missense probably damaging 0.99
IGL01922:Scn4a APN 11 106,229,978 (GRCm39) critical splice donor site probably null
IGL02589:Scn4a APN 11 106,218,958 (GRCm39) missense probably benign 0.08
IGL03338:Scn4a APN 11 106,211,671 (GRCm39) missense probably damaging 1.00
BB004:Scn4a UTSW 11 106,233,209 (GRCm39) missense probably damaging 1.00
BB014:Scn4a UTSW 11 106,233,209 (GRCm39) missense probably damaging 1.00
R0013:Scn4a UTSW 11 106,239,231 (GRCm39) splice site probably benign
R0013:Scn4a UTSW 11 106,239,231 (GRCm39) splice site probably benign
R0025:Scn4a UTSW 11 106,215,386 (GRCm39) missense probably benign 0.39
R0025:Scn4a UTSW 11 106,215,386 (GRCm39) missense probably benign 0.39
R0050:Scn4a UTSW 11 106,211,682 (GRCm39) missense probably damaging 1.00
R0113:Scn4a UTSW 11 106,236,262 (GRCm39) missense probably benign 0.00
R0193:Scn4a UTSW 11 106,211,364 (GRCm39) nonsense probably null
R0410:Scn4a UTSW 11 106,214,775 (GRCm39) missense probably damaging 1.00
R0512:Scn4a UTSW 11 106,236,503 (GRCm39) missense probably damaging 1.00
R0532:Scn4a UTSW 11 106,221,226 (GRCm39) missense probably benign 0.45
R1112:Scn4a UTSW 11 106,211,292 (GRCm39) missense probably damaging 1.00
R1279:Scn4a UTSW 11 106,226,508 (GRCm39) missense probably damaging 1.00
R1564:Scn4a UTSW 11 106,236,367 (GRCm39) missense probably benign
R1712:Scn4a UTSW 11 106,236,373 (GRCm39) missense probably benign 0.20
R1712:Scn4a UTSW 11 106,230,180 (GRCm39) missense probably damaging 1.00
R1721:Scn4a UTSW 11 106,211,646 (GRCm39) missense probably benign 0.31
R1900:Scn4a UTSW 11 106,218,359 (GRCm39) missense probably damaging 1.00
R2057:Scn4a UTSW 11 106,226,550 (GRCm39) missense probably damaging 0.97
R2209:Scn4a UTSW 11 106,230,051 (GRCm39) missense probably damaging 1.00
R3416:Scn4a UTSW 11 106,221,239 (GRCm39) missense probably benign 0.00
R3788:Scn4a UTSW 11 106,235,100 (GRCm39) missense probably damaging 0.96
R3853:Scn4a UTSW 11 106,210,932 (GRCm39) missense possibly damaging 0.94
R3861:Scn4a UTSW 11 106,216,950 (GRCm39) splice site probably benign
R3912:Scn4a UTSW 11 106,211,542 (GRCm39) missense probably damaging 1.00
R3983:Scn4a UTSW 11 106,238,644 (GRCm39) missense probably damaging 1.00
R4036:Scn4a UTSW 11 106,212,883 (GRCm39) missense possibly damaging 0.75
R4358:Scn4a UTSW 11 106,239,683 (GRCm39) splice site probably null
R4556:Scn4a UTSW 11 106,211,272 (GRCm39) missense probably benign 0.32
R4677:Scn4a UTSW 11 106,214,788 (GRCm39) missense probably damaging 1.00
R4863:Scn4a UTSW 11 106,210,828 (GRCm39) missense probably damaging 1.00
R4924:Scn4a UTSW 11 106,210,914 (GRCm39) missense possibly damaging 0.83
R5081:Scn4a UTSW 11 106,239,553 (GRCm39) missense probably damaging 0.99
R5298:Scn4a UTSW 11 106,230,212 (GRCm39) missense probably damaging 1.00
R5407:Scn4a UTSW 11 106,211,715 (GRCm39) missense probably damaging 1.00
R5634:Scn4a UTSW 11 106,220,830 (GRCm39) missense probably benign
R6381:Scn4a UTSW 11 106,211,137 (GRCm39) missense probably damaging 1.00
R6468:Scn4a UTSW 11 106,236,502 (GRCm39) missense probably damaging 1.00
R6489:Scn4a UTSW 11 106,240,006 (GRCm39) missense probably benign 0.26
R6549:Scn4a UTSW 11 106,234,791 (GRCm39) missense probably damaging 1.00
R6606:Scn4a UTSW 11 106,218,899 (GRCm39) missense probably benign 0.39
R7037:Scn4a UTSW 11 106,211,726 (GRCm39) missense probably damaging 0.98
R7064:Scn4a UTSW 11 106,212,983 (GRCm39) missense possibly damaging 0.93
R7182:Scn4a UTSW 11 106,221,134 (GRCm39) missense probably benign 0.21
R7194:Scn4a UTSW 11 106,215,062 (GRCm39) missense probably benign 0.32
R7531:Scn4a UTSW 11 106,239,523 (GRCm39) splice site probably null
R7552:Scn4a UTSW 11 106,239,995 (GRCm39) missense probably benign 0.22
R7570:Scn4a UTSW 11 106,211,299 (GRCm39) missense possibly damaging 0.54
R7635:Scn4a UTSW 11 106,215,458 (GRCm39) missense probably damaging 1.00
R7823:Scn4a UTSW 11 106,233,334 (GRCm39) missense probably damaging 1.00
R7832:Scn4a UTSW 11 106,212,841 (GRCm39) missense probably benign 0.01
R7927:Scn4a UTSW 11 106,233,209 (GRCm39) missense probably damaging 1.00
R8122:Scn4a UTSW 11 106,221,157 (GRCm39) missense probably benign 0.02
R8131:Scn4a UTSW 11 106,232,367 (GRCm39) missense probably benign
R9093:Scn4a UTSW 11 106,210,638 (GRCm39) missense probably benign
R9099:Scn4a UTSW 11 106,211,000 (GRCm39) missense probably damaging 1.00
R9137:Scn4a UTSW 11 106,214,736 (GRCm39) missense probably damaging 1.00
R9163:Scn4a UTSW 11 106,217,076 (GRCm39) missense probably damaging 1.00
R9255:Scn4a UTSW 11 106,215,054 (GRCm39) missense probably damaging 0.99
R9627:Scn4a UTSW 11 106,212,839 (GRCm39) missense probably benign
R9780:Scn4a UTSW 11 106,226,235 (GRCm39) missense probably damaging 1.00
X0012:Scn4a UTSW 11 106,220,887 (GRCm39) missense probably damaging 1.00
X0065:Scn4a UTSW 11 106,213,004 (GRCm39) missense probably damaging 0.98
Z1176:Scn4a UTSW 11 106,232,356 (GRCm39) missense probably damaging 0.97
Z1176:Scn4a UTSW 11 106,232,355 (GRCm39) missense probably benign 0.26
Z1176:Scn4a UTSW 11 106,212,734 (GRCm39) missense probably null 0.29
Z1177:Scn4a UTSW 11 106,232,368 (GRCm39) missense probably benign
Z1177:Scn4a UTSW 11 106,221,034 (GRCm39) missense not run
Posted On 2016-08-02