Incidental Mutation 'R1851:Scn7a'
ID 208055
Institutional Source Beutler Lab
Gene Symbol Scn7a
Ensembl Gene ENSMUSG00000034810
Gene Name sodium channel, voltage-gated, type VII, alpha
Synonyms 1110034K09Rik, NaG, Nav2, Nax, Nav2.3, Scn6a
MMRRC Submission 039875-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R1851 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 66503770-66615254 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66510635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1256 (I1256V)
Ref Sequence ENSEMBL: ENSMUSP00000042405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042792]
AlphaFold B1AYL1
Predicted Effect probably benign
Transcript: ENSMUST00000042792
AA Change: I1256V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: I1256V

DomainStartEndE-ValueType
Pfam:Ion_trans 118 405 4.7e-53 PFAM
coiled coil region 415 443 N/A INTRINSIC
Pfam:Ion_trans 505 739 5.8e-36 PFAM
Pfam:Na_trans_assoc 741 929 4.1e-17 PFAM
Pfam:Ion_trans 933 1204 3e-49 PFAM
Pfam:Ion_trans 1250 1505 5e-37 PFAM
IQ 1624 1646 6.4e-2 SMART
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have a modified dietary preference for NaCl but are phenotypically normal otherwise. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik A G 12: 18,583,687 (GRCm39) E225G possibly damaging Het
Abcb7 T C X: 103,349,005 (GRCm39) M153V probably benign Het
Abi1 A T 2: 22,840,276 (GRCm39) V329D possibly damaging Het
Ablim3 G A 18: 61,982,466 (GRCm39) H160Y probably benign Het
Acox3 A T 5: 35,766,406 (GRCm39) D624V possibly damaging Het
Adam6b A G 12: 113,455,442 (GRCm39) D753G probably benign Het
Ago1 C A 4: 126,333,788 (GRCm39) R771L probably benign Het
Aktip A G 8: 91,852,505 (GRCm39) V217A possibly damaging Het
Ankk1 A C 9: 49,327,150 (GRCm39) H676Q probably benign Het
Arl1 G C 10: 88,569,408 (GRCm39) probably benign Het
Asxl3 T A 18: 22,650,796 (GRCm39) D928E probably damaging Het
AW209491 T C 13: 14,811,318 (GRCm39) V57A possibly damaging Het
B3galt4 G T 17: 34,169,885 (GRCm39) Q118K probably benign Het
Ccdc187 A T 2: 26,166,080 (GRCm39) M783K probably benign Het
Cdon T G 9: 35,394,454 (GRCm39) M900R probably damaging Het
Ceacam5 G A 7: 17,448,835 (GRCm39) W67* probably null Het
Chd5 A G 4: 152,462,727 (GRCm39) S1356G probably damaging Het
Chil3 C T 3: 106,056,117 (GRCm39) probably null Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cntn1 C T 15: 92,203,021 (GRCm39) R768C probably damaging Het
Col6a3 T A 1: 90,735,256 (GRCm39) I798F possibly damaging Het
Cpxcr1 T A X: 115,387,758 (GRCm39) L223* probably null Het
Cpz C A 5: 35,659,902 (GRCm39) R581L possibly damaging Het
Cxcr2 A G 1: 74,198,438 (GRCm39) I311V probably benign Het
Cym T A 3: 107,126,030 (GRCm39) I78F probably benign Het
Defb8 A T 8: 19,495,899 (GRCm39) S54T probably benign Het
Dennd4a A G 9: 64,769,312 (GRCm39) T433A probably damaging Het
Dhx29 A G 13: 113,084,815 (GRCm39) T678A probably damaging Het
Dspp T C 5: 104,321,951 (GRCm39) probably null Het
Enkur G T 2: 21,193,988 (GRCm39) A195E probably benign Het
Ero1b T A 13: 12,619,292 (GRCm39) S429T possibly damaging Het
Fh1 A G 1: 175,435,452 (GRCm39) S344P probably damaging Het
Flnc G T 6: 29,443,478 (GRCm39) G553V probably damaging Het
Fmo1 A T 1: 162,657,554 (GRCm39) L529* probably null Het
Frem1 C A 4: 82,868,737 (GRCm39) V1415F probably damaging Het
Gatb T G 3: 85,526,184 (GRCm39) L354R probably damaging Het
Gdpgp1 A T 7: 79,888,349 (GRCm39) N127Y probably damaging Het
Gpat2 A G 2: 127,276,739 (GRCm39) T648A possibly damaging Het
Grk6 C T 13: 55,599,591 (GRCm39) R225* probably null Het
Hells A T 19: 38,948,120 (GRCm39) Q682L probably null Het
Hspa5 T A 2: 34,664,690 (GRCm39) N381K possibly damaging Het
Ighmbp2 T C 19: 3,312,075 (GRCm39) N893S probably benign Het
Ipo11 A T 13: 106,948,765 (GRCm39) V914E possibly damaging Het
Lars1 T C 18: 42,345,673 (GRCm39) N1001S probably benign Het
Lats2 A G 14: 57,934,912 (GRCm39) L606P probably damaging Het
Map4k1 T C 7: 28,699,209 (GRCm39) Y521H probably benign Het
Marchf11 T A 15: 26,387,916 (GRCm39) V257E probably damaging Het
Med23 G A 10: 24,786,768 (GRCm39) probably null Het
Meltf A G 16: 31,715,395 (GRCm39) D696G probably benign Het
Ms4a7 T A 19: 11,301,788 (GRCm39) M212L probably benign Het
Mx1 A T 16: 97,249,403 (GRCm39) L608Q probably damaging Het
Myh1 T C 11: 67,095,224 (GRCm39) Y195H probably damaging Het
Napb G T 2: 148,548,909 (GRCm39) H110Q probably benign Het
Ngly1 C T 14: 16,260,585 (GRCm38) P90S probably damaging Het
Nlrp1b T A 11: 71,073,442 (GRCm39) I134L possibly damaging Het
Nup210 A G 6: 90,993,036 (GRCm39) L1017P probably damaging Het
Nup85 T A 11: 115,472,643 (GRCm39) I233N probably damaging Het
Obsl1 A G 1: 75,469,537 (GRCm39) V965A probably damaging Het
Or4c12 A C 2: 89,774,158 (GRCm39) Y100* probably null Het
Or4f6 T C 2: 111,839,036 (GRCm39) D165G probably benign Het
Or6c5c T C 10: 129,299,370 (GRCm39) L275P probably damaging Het
Pak1ip1 A G 13: 41,164,708 (GRCm39) T264A possibly damaging Het
Pard6g C T 18: 80,160,357 (GRCm39) R157C probably damaging Het
Pcdhb7 A T 18: 37,475,631 (GRCm39) T256S possibly damaging Het
Phrf1 T C 7: 140,820,831 (GRCm39) F153L probably damaging Het
Pigw A T 11: 84,768,874 (GRCm39) F152I probably damaging Het
Pip4k2c A G 10: 127,036,744 (GRCm39) S222P probably damaging Het
Pjvk A G 2: 76,487,775 (GRCm39) probably null Het
Plxnd1 C T 6: 115,940,875 (GRCm39) V1355M probably damaging Het
Pramel26 T C 4: 143,539,396 (GRCm39) I32M probably benign Het
Prss22 G A 17: 24,215,288 (GRCm39) P163S probably damaging Het
Prune2 A G 19: 17,176,503 (GRCm39) I154V probably damaging Het
Rapgef6 T A 11: 54,533,637 (GRCm39) D362E probably benign Het
Retreg2 A G 1: 75,123,319 (GRCm39) K416E probably benign Het
Sema4d A G 13: 51,865,258 (GRCm39) V362A possibly damaging Het
Septin4 T A 11: 87,459,741 (GRCm39) D496E probably damaging Het
Slc25a34 G A 4: 141,349,579 (GRCm39) T192I probably benign Het
Tacc3 G T 5: 33,825,544 (GRCm39) V425L probably benign Het
Tfdp2 A T 9: 96,179,762 (GRCm39) K125I probably damaging Het
Tjp2 C T 19: 24,076,899 (GRCm39) R952Q possibly damaging Het
Tk2 G T 8: 104,975,077 (GRCm39) S30* probably null Het
Tmem74 A T 15: 43,730,559 (GRCm39) D161E probably benign Het
Tmprss9 G A 10: 80,728,119 (GRCm39) V570M probably damaging Het
Tnk2 C A 16: 32,498,280 (GRCm39) P26Q probably damaging Het
Tnpo2 T G 8: 85,778,401 (GRCm39) V610G probably damaging Het
Trim37 T C 11: 87,109,132 (GRCm39) F953S probably damaging Het
U2surp T A 9: 95,364,150 (GRCm39) K589* probably null Het
Usp2 G A 9: 43,987,263 (GRCm39) R187H probably benign Het
Vmn2r1 C T 3: 64,008,926 (GRCm39) T535I probably benign Het
Wdr20rt T A 12: 65,273,925 (GRCm39) S463T possibly damaging Het
Zbtb25 C A 12: 76,396,488 (GRCm39) G245W probably damaging Het
Zc3h14 T A 12: 98,726,613 (GRCm39) L27* probably null Het
Zfp2 T C 11: 50,791,915 (GRCm39) K43E probably benign Het
Zfp268 T G 4: 145,350,820 (GRCm39) probably benign Het
Zfp654 A G 16: 64,605,491 (GRCm39) Y904H probably benign Het
Other mutations in Scn7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Scn7a APN 2 66,513,671 (GRCm39) splice site probably benign
IGL00432:Scn7a APN 2 66,572,326 (GRCm39) nonsense probably null
IGL00720:Scn7a APN 2 66,506,388 (GRCm39) missense possibly damaging 0.67
IGL00783:Scn7a APN 2 66,522,908 (GRCm39) missense probably damaging 0.99
IGL00784:Scn7a APN 2 66,522,908 (GRCm39) missense probably damaging 0.99
IGL00926:Scn7a APN 2 66,514,475 (GRCm39) missense probably benign 0.06
IGL00963:Scn7a APN 2 66,534,289 (GRCm39) splice site probably benign
IGL01099:Scn7a APN 2 66,514,582 (GRCm39) missense probably damaging 1.00
IGL01326:Scn7a APN 2 66,582,604 (GRCm39) missense probably benign 0.13
IGL01538:Scn7a APN 2 66,534,196 (GRCm39) missense probably benign
IGL01624:Scn7a APN 2 66,582,269 (GRCm39) missense probably benign 0.07
IGL01794:Scn7a APN 2 66,505,853 (GRCm39) missense probably benign
IGL02100:Scn7a APN 2 66,505,843 (GRCm39) makesense probably null
IGL02326:Scn7a APN 2 66,530,392 (GRCm39) missense probably benign 0.00
IGL02472:Scn7a APN 2 66,582,658 (GRCm39) missense probably damaging 1.00
IGL02528:Scn7a APN 2 66,530,519 (GRCm39) missense probably damaging 1.00
IGL02798:Scn7a APN 2 66,544,219 (GRCm39) missense probably benign 0.00
IGL03026:Scn7a APN 2 66,506,442 (GRCm39) missense probably damaging 0.99
IGL03071:Scn7a APN 2 66,530,291 (GRCm39) missense possibly damaging 0.89
IGL03080:Scn7a APN 2 66,528,160 (GRCm39) missense probably benign 0.01
IGL03180:Scn7a APN 2 66,506,578 (GRCm39) missense possibly damaging 0.94
IGL03337:Scn7a APN 2 66,506,304 (GRCm39) missense probably benign 0.00
alert UTSW 2 66,510,590 (GRCm39) nonsense probably null
glimmer UTSW 2 66,574,047 (GRCm39) missense probably damaging 0.96
Uptick UTSW 2 66,530,393 (GRCm39) nonsense probably null
PIT4514001:Scn7a UTSW 2 66,514,523 (GRCm39) missense probably damaging 1.00
R0004:Scn7a UTSW 2 66,518,139 (GRCm39) missense possibly damaging 0.81
R0076:Scn7a UTSW 2 66,544,381 (GRCm39) missense probably benign 0.04
R0230:Scn7a UTSW 2 66,556,628 (GRCm39) missense probably damaging 1.00
R0463:Scn7a UTSW 2 66,506,084 (GRCm39) missense probably benign 0.05
R0846:Scn7a UTSW 2 66,527,944 (GRCm39) missense possibly damaging 0.71
R1237:Scn7a UTSW 2 66,510,639 (GRCm39) missense probably damaging 0.98
R1282:Scn7a UTSW 2 66,531,193 (GRCm39) missense probably damaging 0.98
R1467:Scn7a UTSW 2 66,519,902 (GRCm39) missense probably benign 0.01
R1467:Scn7a UTSW 2 66,519,902 (GRCm39) missense probably benign 0.01
R1501:Scn7a UTSW 2 66,530,507 (GRCm39) missense probably benign 0.37
R1672:Scn7a UTSW 2 66,527,944 (GRCm39) missense possibly damaging 0.71
R1690:Scn7a UTSW 2 66,506,287 (GRCm39) missense probably damaging 0.99
R1712:Scn7a UTSW 2 66,535,447 (GRCm39) missense probably benign 0.05
R1758:Scn7a UTSW 2 66,531,231 (GRCm39) missense probably damaging 0.97
R1758:Scn7a UTSW 2 66,510,527 (GRCm39) missense probably benign 0.00
R1775:Scn7a UTSW 2 66,511,299 (GRCm39) missense probably benign 0.02
R1848:Scn7a UTSW 2 66,514,357 (GRCm39) critical splice donor site probably null
R1919:Scn7a UTSW 2 66,530,317 (GRCm39) missense probably damaging 1.00
R1932:Scn7a UTSW 2 66,506,446 (GRCm39) missense probably damaging 1.00
R1945:Scn7a UTSW 2 66,506,324 (GRCm39) missense probably damaging 1.00
R1970:Scn7a UTSW 2 66,514,633 (GRCm39) missense possibly damaging 0.89
R1998:Scn7a UTSW 2 66,513,613 (GRCm39) missense probably damaging 0.99
R2008:Scn7a UTSW 2 66,518,091 (GRCm39) missense possibly damaging 0.82
R2038:Scn7a UTSW 2 66,567,780 (GRCm39) missense probably damaging 1.00
R2113:Scn7a UTSW 2 66,506,312 (GRCm39) missense probably damaging 1.00
R2128:Scn7a UTSW 2 66,528,330 (GRCm39) missense probably damaging 0.99
R2163:Scn7a UTSW 2 66,506,300 (GRCm39) missense probably damaging 0.97
R2421:Scn7a UTSW 2 66,556,646 (GRCm39) splice site probably benign
R2446:Scn7a UTSW 2 66,523,002 (GRCm39) missense probably damaging 0.98
R2922:Scn7a UTSW 2 66,530,551 (GRCm39) splice site probably benign
R3015:Scn7a UTSW 2 66,530,240 (GRCm39) missense probably benign 0.08
R3034:Scn7a UTSW 2 66,513,152 (GRCm39) missense probably damaging 1.00
R3419:Scn7a UTSW 2 66,531,239 (GRCm39) frame shift probably null
R3429:Scn7a UTSW 2 66,531,239 (GRCm39) frame shift probably null
R3430:Scn7a UTSW 2 66,531,239 (GRCm39) frame shift probably null
R3434:Scn7a UTSW 2 66,505,847 (GRCm39) missense probably benign 0.01
R3803:Scn7a UTSW 2 66,510,590 (GRCm39) nonsense probably null
R3831:Scn7a UTSW 2 66,528,028 (GRCm39) missense probably damaging 0.96
R3833:Scn7a UTSW 2 66,528,028 (GRCm39) missense probably damaging 0.96
R4017:Scn7a UTSW 2 66,572,329 (GRCm39) missense probably damaging 1.00
R4244:Scn7a UTSW 2 66,572,345 (GRCm39) missense probably benign 0.00
R4245:Scn7a UTSW 2 66,572,345 (GRCm39) missense probably benign 0.00
R4276:Scn7a UTSW 2 66,514,407 (GRCm39) missense probably damaging 0.97
R4307:Scn7a UTSW 2 66,506,099 (GRCm39) missense possibly damaging 0.47
R4327:Scn7a UTSW 2 66,567,815 (GRCm39) missense probably damaging 1.00
R4353:Scn7a UTSW 2 66,506,780 (GRCm39) missense probably benign 0.00
R4721:Scn7a UTSW 2 66,514,529 (GRCm39) missense probably damaging 1.00
R4722:Scn7a UTSW 2 66,531,228 (GRCm39) missense possibly damaging 0.95
R4781:Scn7a UTSW 2 66,534,104 (GRCm39) missense possibly damaging 0.95
R4792:Scn7a UTSW 2 66,556,592 (GRCm39) missense probably damaging 1.00
R5362:Scn7a UTSW 2 66,530,342 (GRCm39) missense probably damaging 1.00
R5437:Scn7a UTSW 2 66,506,690 (GRCm39) missense probably damaging 1.00
R5729:Scn7a UTSW 2 66,572,301 (GRCm39) critical splice donor site probably null
R5777:Scn7a UTSW 2 66,522,913 (GRCm39) missense probably damaging 1.00
R5785:Scn7a UTSW 2 66,527,912 (GRCm39) missense possibly damaging 0.79
R5821:Scn7a UTSW 2 66,574,047 (GRCm39) missense probably damaging 0.96
R5830:Scn7a UTSW 2 66,544,395 (GRCm39) nonsense probably null
R5877:Scn7a UTSW 2 66,530,217 (GRCm39) nonsense probably null
R5881:Scn7a UTSW 2 66,505,870 (GRCm39) missense probably benign 0.01
R5967:Scn7a UTSW 2 66,506,057 (GRCm39) missense probably damaging 1.00
R5988:Scn7a UTSW 2 66,556,558 (GRCm39) nonsense probably null
R6077:Scn7a UTSW 2 66,527,940 (GRCm39) missense probably damaging 1.00
R6135:Scn7a UTSW 2 66,534,244 (GRCm39) missense probably benign
R6242:Scn7a UTSW 2 66,531,110 (GRCm39) missense probably benign 0.00
R6264:Scn7a UTSW 2 66,505,870 (GRCm39) missense possibly damaging 0.93
R6291:Scn7a UTSW 2 66,530,458 (GRCm39) missense probably damaging 0.98
R6544:Scn7a UTSW 2 66,514,444 (GRCm39) missense probably damaging 1.00
R6770:Scn7a UTSW 2 66,559,528 (GRCm39) splice site probably null
R6997:Scn7a UTSW 2 66,534,147 (GRCm39) missense probably damaging 1.00
R7014:Scn7a UTSW 2 66,572,303 (GRCm39) missense probably null 1.00
R7126:Scn7a UTSW 2 66,587,630 (GRCm39) missense possibly damaging 0.80
R7129:Scn7a UTSW 2 66,530,537 (GRCm39) missense probably benign 0.14
R7176:Scn7a UTSW 2 66,506,632 (GRCm39) missense probably damaging 1.00
R7185:Scn7a UTSW 2 66,518,139 (GRCm39) missense possibly damaging 0.81
R7276:Scn7a UTSW 2 66,587,506 (GRCm39) missense probably damaging 1.00
R7332:Scn7a UTSW 2 66,522,898 (GRCm39) nonsense probably null
R7421:Scn7a UTSW 2 66,505,876 (GRCm39) missense probably benign 0.07
R7488:Scn7a UTSW 2 66,587,574 (GRCm39) missense probably benign 0.16
R7636:Scn7a UTSW 2 66,574,172 (GRCm39) missense possibly damaging 0.67
R7685:Scn7a UTSW 2 66,506,536 (GRCm39) missense probably damaging 1.00
R7711:Scn7a UTSW 2 66,531,221 (GRCm39) missense probably damaging 1.00
R7813:Scn7a UTSW 2 66,506,689 (GRCm39) missense probably damaging 1.00
R7833:Scn7a UTSW 2 66,506,494 (GRCm39) missense probably damaging 1.00
R7914:Scn7a UTSW 2 66,530,294 (GRCm39) missense probably damaging 0.97
R7953:Scn7a UTSW 2 66,587,670 (GRCm39) missense possibly damaging 0.90
R7970:Scn7a UTSW 2 66,506,173 (GRCm39) missense probably damaging 1.00
R8061:Scn7a UTSW 2 66,522,938 (GRCm39) missense probably damaging 1.00
R8121:Scn7a UTSW 2 66,531,203 (GRCm39) missense probably damaging 1.00
R8172:Scn7a UTSW 2 66,506,191 (GRCm39) missense possibly damaging 0.90
R8209:Scn7a UTSW 2 66,531,204 (GRCm39) missense possibly damaging 0.88
R8226:Scn7a UTSW 2 66,531,204 (GRCm39) missense possibly damaging 0.88
R8288:Scn7a UTSW 2 66,506,318 (GRCm39) missense probably damaging 1.00
R8431:Scn7a UTSW 2 66,534,164 (GRCm39) missense possibly damaging 0.62
R8678:Scn7a UTSW 2 66,574,041 (GRCm39) splice site probably benign
R8745:Scn7a UTSW 2 66,510,526 (GRCm39) missense probably benign
R8781:Scn7a UTSW 2 66,567,775 (GRCm39) missense probably benign 0.03
R8848:Scn7a UTSW 2 66,530,393 (GRCm39) nonsense probably null
R8878:Scn7a UTSW 2 66,506,199 (GRCm39) missense probably damaging 1.00
R8943:Scn7a UTSW 2 66,525,206 (GRCm39) synonymous silent
R8991:Scn7a UTSW 2 66,514,588 (GRCm39) missense possibly damaging 0.65
R9147:Scn7a UTSW 2 66,514,507 (GRCm39) missense possibly damaging 0.89
R9148:Scn7a UTSW 2 66,514,507 (GRCm39) missense possibly damaging 0.89
R9402:Scn7a UTSW 2 66,510,456 (GRCm39) missense probably damaging 1.00
R9501:Scn7a UTSW 2 66,582,579 (GRCm39) missense probably benign 0.00
R9546:Scn7a UTSW 2 66,582,603 (GRCm39) missense possibly damaging 0.93
R9715:Scn7a UTSW 2 66,519,902 (GRCm39) missense possibly damaging 0.93
X0060:Scn7a UTSW 2 66,520,026 (GRCm39) missense probably benign 0.01
X0066:Scn7a UTSW 2 66,510,536 (GRCm39) missense probably benign
Z1088:Scn7a UTSW 2 66,544,295 (GRCm39) missense probably damaging 0.98
Z1177:Scn7a UTSW 2 66,582,613 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGCCAACCTTACCTGTAATGG -3'
(R):5'- TTGACAAAGGATTCAAGTGCTG -3'

Sequencing Primer
(F):5'- GAACATTCCATGCACTGGTG -3'
(R):5'- GACAAAGGATTCAAGTGCTGTTTTTG -3'
Posted On 2014-06-23