Incidental Mutation 'R1945:Scn10a'
ID 216585
Institutional Source Beutler Lab
Gene Symbol Scn10a
Ensembl Gene ENSMUSG00000034533
Gene Name sodium channel, voltage-gated, type X, alpha
Synonyms Nav1.8
MMRRC Submission 039963-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R1945 (G1)
Quality Score 207
Status Not validated
Chromosome 9
Chromosomal Location 119437522-119548388 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119520520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 127 (S127T)
Ref Sequence ENSEMBL: ENSMUSP00000148987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084787] [ENSMUST00000213392] [ENSMUST00000214408]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000084787
AA Change: S127T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533
AA Change: S127T

DomainStartEndE-ValueType
Pfam:Ion_trans 129 406 7.9e-77 PFAM
low complexity region 557 572 N/A INTRINSIC
Pfam:Ion_trans 663 898 6.8e-53 PFAM
Pfam:Na_trans_assoc 903 1148 2.7e-57 PFAM
Pfam:Ion_trans 1152 1429 8.1e-66 PFAM
Pfam:Ion_trans 1476 1734 1.9e-55 PFAM
Pfam:PKD_channel 1561 1729 3.4e-8 PFAM
IQ 1851 1873 7.57e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000213392
AA Change: S127T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213401
Predicted Effect possibly damaging
Transcript: ENSMUST00000214408
AA Change: S127T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216583
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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 a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired perception of pain. Mice homozygous or heterozygous for an ENU-induced allele exhibit a catalepsy phenotype following scruffing and increased sensitivity to cold pain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,653,549 (GRCm39) I33V unknown Het
Abca1 ACGTCTTCACCAGGTAATC AC 4: 53,061,509 (GRCm39) probably null Het
Amotl2 T C 9: 102,597,753 (GRCm39) S171P probably benign Het
Armh4 T A 14: 50,005,940 (GRCm39) E585V probably damaging Het
Atf6 A T 1: 170,682,710 (GRCm39) V34E probably benign Het
Atrip T A 9: 108,900,935 (GRCm39) I135F probably damaging Het
Bglap A G 3: 88,290,971 (GRCm39) Y87H probably damaging Het
Camk2n1 G A 4: 138,184,094 (GRCm39) V78I possibly damaging Het
Ccdc92b A G 11: 74,520,835 (GRCm39) I46V probably benign Het
Cdc14b T C 13: 64,367,704 (GRCm39) Y208C probably damaging Het
Cdc42bpb C T 12: 111,265,567 (GRCm39) R1455Q probably damaging Het
Cep170 C A 1: 176,621,100 (GRCm39) G26* probably null Het
Cfap46 A G 7: 139,259,819 (GRCm39) F217S probably damaging Het
Col11a2 A T 17: 34,278,142 (GRCm39) D691V probably damaging Het
Col7a1 G A 9: 108,789,078 (GRCm39) V798I unknown Het
Coq8b CGCA CGCAGCA 7: 26,933,405 (GRCm39) probably benign Het
Coq8b GCA GCAACA 7: 26,933,406 (GRCm39) probably benign Het
Dcaf5 T C 12: 80,385,468 (GRCm39) D886G probably benign Het
Ern1 A G 11: 106,312,776 (GRCm39) S202P probably damaging Het
Etaa1 A G 11: 17,897,233 (GRCm39) C295R probably damaging Het
Ghdc C T 11: 100,660,031 (GRCm39) A239T probably benign Het
Grik4 T C 9: 42,432,300 (GRCm39) D899G possibly damaging Het
Hacd2 C A 16: 34,922,354 (GRCm39) T181K possibly damaging Het
Havcr2 T C 11: 46,345,877 (GRCm39) L17P unknown Het
Herc3 T C 6: 58,864,424 (GRCm39) V686A probably damaging Het
Hyal3 T C 9: 107,462,671 (GRCm39) L235P probably damaging Het
Itgb4 C T 11: 115,884,279 (GRCm39) Q988* probably null Het
Itprid2 T C 2: 79,492,996 (GRCm39) V1181A probably benign Het
Krt32 T A 11: 99,975,670 (GRCm39) probably null Het
Krt33a T C 11: 99,903,535 (GRCm39) N199S probably benign Het
Lama1 T A 17: 68,052,848 (GRCm39) S394T probably benign Het
Lamp1 T C 8: 13,222,545 (GRCm39) V243A probably benign Het
Loxhd1 A G 18: 77,492,504 (GRCm39) Y1315C probably damaging Het
Macf1 A T 4: 123,384,453 (GRCm39) L1148* probably null Het
Mill2 A G 7: 18,575,419 (GRCm39) H42R probably benign Het
Myo15a T C 11: 60,392,909 (GRCm39) F2194L probably damaging Het
Myo15b A T 11: 115,769,224 (GRCm39) I1472F probably damaging Het
Nasp T C 4: 116,479,965 (GRCm39) S36G possibly damaging Het
Nav2 A G 7: 49,114,620 (GRCm39) Y868C probably damaging Het
Niban1 T C 1: 151,571,979 (GRCm39) I308T probably damaging Het
Nono T C X: 100,485,429 (GRCm39) probably null Het
Npc1l1 T A 11: 6,164,588 (GRCm39) I1154F possibly damaging Het
Npc1l1 C T 11: 6,175,199 (GRCm39) W592* probably null Het
Nsg2 T C 11: 32,005,068 (GRCm39) V90A probably damaging Het
Odf4 T C 11: 68,812,983 (GRCm39) N225S possibly damaging Het
Oosp2 C T 19: 11,626,959 (GRCm39) probably null Het
Or1j12 T C 2: 36,343,043 (GRCm39) W149R probably damaging Het
Or4c123 T C 2: 89,127,128 (GRCm39) Y162C probably damaging Het
Pcdhb4 A T 18: 37,441,921 (GRCm39) R410S probably damaging Het
Pde6c T A 19: 38,145,967 (GRCm39) D418E probably damaging Het
Pik3ap1 A T 19: 41,262,776 (GRCm39) S799T probably benign Het
Pitx2 A G 3: 129,012,185 (GRCm39) N198S probably damaging Het
Psmb3 T C 11: 97,601,981 (GRCm39) F117S probably benign Het
Ptprq A T 10: 107,418,249 (GRCm39) M1709K probably benign Het
Recql5 G A 11: 115,819,123 (GRCm39) R148* probably null Het
Reep3 A G 10: 66,871,678 (GRCm39) S97P probably damaging Het
Rnase12 T A 14: 51,294,463 (GRCm39) Q72L possibly damaging Het
Scd3 T C 19: 44,224,219 (GRCm39) Y151H probably benign Het
Scn7a A T 2: 66,506,324 (GRCm39) W1522R probably damaging Het
Senp7 A G 16: 55,944,309 (GRCm39) H211R probably damaging Het
Septin10 C T 10: 59,016,841 (GRCm39) probably null Het
Serpinb6d T C 13: 33,851,663 (GRCm39) V140A possibly damaging Het
Sned1 A G 1: 93,198,960 (GRCm39) E457G probably benign Het
Spag17 A C 3: 99,847,298 (GRCm39) M76L probably benign Het
Spata31e2 C A 1: 26,721,395 (GRCm39) V1262F probably benign Het
Spata31e3 C T 13: 50,399,527 (GRCm39) G933E probably damaging Het
Sspo A T 6: 48,466,707 (GRCm39) E105V possibly damaging Het
Stoml3 T A 3: 53,412,866 (GRCm39) D173E possibly damaging Het
Sun3 T C 11: 8,988,296 (GRCm39) I9V probably benign Het
Svil T C 18: 5,117,059 (GRCm39) W2165R probably damaging Het
Tbl2 T A 5: 135,186,454 (GRCm39) S184T possibly damaging Het
Tdrd7 A T 4: 45,965,474 (GRCm39) T31S probably benign Het
Tmeff1 A G 4: 48,614,960 (GRCm39) N139S possibly damaging Het
Trip13 T C 13: 74,076,043 (GRCm39) R199G probably damaging Het
Tshb G T 3: 102,684,831 (GRCm39) Y124* probably null Het
Ttn T C 2: 76,560,366 (GRCm39) E29345G probably damaging Het
Usp33 T A 3: 152,085,223 (GRCm39) S620T probably benign Het
Vipr1 G A 9: 121,497,540 (GRCm39) G353R probably damaging Het
Vipr1 G T 9: 121,497,541 (GRCm39) G353V probably damaging Het
Vps13c A T 9: 67,793,558 (GRCm39) D437V probably damaging Het
Ylpm1 T A 12: 85,062,192 (GRCm39) S240T probably damaging Het
Zfp772 A G 7: 7,206,629 (GRCm39) I354T probably benign Het
Zfp959 T A 17: 56,204,231 (GRCm39) Y86* probably null Het
Other mutations in Scn10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Scn10a APN 9 119,501,292 (GRCm39) missense probably damaging 1.00
IGL01339:Scn10a APN 9 119,451,832 (GRCm39) missense probably damaging 1.00
IGL01467:Scn10a APN 9 119,487,478 (GRCm39) missense probably benign 0.33
IGL01472:Scn10a APN 9 119,446,829 (GRCm39) missense probably damaging 1.00
IGL01481:Scn10a APN 9 119,438,260 (GRCm39) missense probably damaging 1.00
IGL01539:Scn10a APN 9 119,467,764 (GRCm39) missense probably damaging 0.99
IGL01580:Scn10a APN 9 119,456,225 (GRCm39) missense probably damaging 1.00
IGL01676:Scn10a APN 9 119,501,231 (GRCm39) nonsense probably null
IGL01681:Scn10a APN 9 119,523,143 (GRCm39) missense probably damaging 1.00
IGL01748:Scn10a APN 9 119,456,150 (GRCm39) missense probably damaging 1.00
IGL01866:Scn10a APN 9 119,464,568 (GRCm39) nonsense probably null
IGL01998:Scn10a APN 9 119,438,742 (GRCm39) missense probably damaging 1.00
IGL02015:Scn10a APN 9 119,494,017 (GRCm39) missense probably benign 0.09
IGL02098:Scn10a APN 9 119,520,544 (GRCm39) missense possibly damaging 0.90
IGL02113:Scn10a APN 9 119,438,956 (GRCm39) missense probably damaging 1.00
IGL02245:Scn10a APN 9 119,501,218 (GRCm39) missense probably damaging 1.00
IGL02262:Scn10a APN 9 119,487,499 (GRCm39) missense possibly damaging 0.92
IGL02317:Scn10a APN 9 119,467,621 (GRCm39) missense probably benign 0.00
IGL02428:Scn10a APN 9 119,520,628 (GRCm39) missense probably damaging 1.00
IGL02439:Scn10a APN 9 119,447,914 (GRCm39) missense probably benign 0.40
IGL02583:Scn10a APN 9 119,520,506 (GRCm39) splice site probably benign
IGL02597:Scn10a APN 9 119,439,189 (GRCm39) missense probably damaging 0.99
IGL02680:Scn10a APN 9 119,495,125 (GRCm39) missense probably damaging 1.00
IGL02733:Scn10a APN 9 119,445,771 (GRCm39) missense probably damaging 1.00
IGL02851:Scn10a APN 9 119,500,674 (GRCm39) missense probably damaging 1.00
IGL02992:Scn10a APN 9 119,438,626 (GRCm39) missense possibly damaging 0.90
IGL03040:Scn10a APN 9 119,452,051 (GRCm39) missense probably damaging 1.00
IGL03049:Scn10a APN 9 119,495,056 (GRCm39) missense probably damaging 1.00
IGL03407:Scn10a APN 9 119,477,237 (GRCm39) missense probably damaging 0.99
possum UTSW 9 119,467,771 (GRCm39) missense probably damaging 1.00
R0025:Scn10a UTSW 9 119,499,550 (GRCm39) missense probably damaging 1.00
R0030:Scn10a UTSW 9 119,499,056 (GRCm39) missense probably benign 0.01
R0328:Scn10a UTSW 9 119,523,168 (GRCm39) missense possibly damaging 0.92
R0494:Scn10a UTSW 9 119,453,166 (GRCm39) missense probably damaging 1.00
R0511:Scn10a UTSW 9 119,442,766 (GRCm39) missense probably damaging 0.99
R0548:Scn10a UTSW 9 119,494,994 (GRCm39) missense probably benign 0.00
R0584:Scn10a UTSW 9 119,499,597 (GRCm39) missense probably damaging 1.00
R0595:Scn10a UTSW 9 119,495,129 (GRCm39) missense probably benign 0.01
R0894:Scn10a UTSW 9 119,459,213 (GRCm39) missense probably damaging 1.00
R1022:Scn10a UTSW 9 119,438,340 (GRCm39) missense probably damaging 1.00
R1024:Scn10a UTSW 9 119,438,340 (GRCm39) missense probably damaging 1.00
R1263:Scn10a UTSW 9 119,446,799 (GRCm39) missense probably damaging 1.00
R1456:Scn10a UTSW 9 119,520,544 (GRCm39) missense probably benign 0.01
R1466:Scn10a UTSW 9 119,495,556 (GRCm39) missense probably damaging 1.00
R1466:Scn10a UTSW 9 119,495,556 (GRCm39) missense probably damaging 1.00
R1573:Scn10a UTSW 9 119,442,692 (GRCm39) missense probably benign 0.04
R1704:Scn10a UTSW 9 119,438,460 (GRCm39) missense probably damaging 1.00
R1933:Scn10a UTSW 9 119,439,064 (GRCm39) missense probably damaging 1.00
R2013:Scn10a UTSW 9 119,442,802 (GRCm39) missense probably damaging 0.99
R2155:Scn10a UTSW 9 119,438,514 (GRCm39) missense probably benign 0.02
R2196:Scn10a UTSW 9 119,438,070 (GRCm39) missense probably benign
R2231:Scn10a UTSW 9 119,462,916 (GRCm39) missense possibly damaging 0.73
R2353:Scn10a UTSW 9 119,467,753 (GRCm39) missense probably damaging 1.00
R2392:Scn10a UTSW 9 119,456,268 (GRCm39) missense possibly damaging 0.86
R2895:Scn10a UTSW 9 119,490,467 (GRCm39) missense probably benign 0.00
R2926:Scn10a UTSW 9 119,467,767 (GRCm39) missense possibly damaging 0.93
R3783:Scn10a UTSW 9 119,520,628 (GRCm39) missense probably damaging 1.00
R3821:Scn10a UTSW 9 119,467,699 (GRCm39) missense probably benign
R4003:Scn10a UTSW 9 119,438,034 (GRCm39) missense probably null 0.00
R4208:Scn10a UTSW 9 119,445,842 (GRCm39) missense probably damaging 0.99
R4231:Scn10a UTSW 9 119,460,610 (GRCm39) missense probably damaging 0.98
R4626:Scn10a UTSW 9 119,460,571 (GRCm39) missense possibly damaging 0.87
R4702:Scn10a UTSW 9 119,462,857 (GRCm39) missense possibly damaging 0.59
R4713:Scn10a UTSW 9 119,438,717 (GRCm39) missense probably damaging 1.00
R4729:Scn10a UTSW 9 119,500,592 (GRCm39) missense probably damaging 1.00
R4782:Scn10a UTSW 9 119,451,976 (GRCm39) missense possibly damaging 0.70
R4822:Scn10a UTSW 9 119,467,738 (GRCm39) missense probably damaging 1.00
R4856:Scn10a UTSW 9 119,523,376 (GRCm39) missense possibly damaging 0.63
R4856:Scn10a UTSW 9 119,523,375 (GRCm39) missense possibly damaging 0.46
R4932:Scn10a UTSW 9 119,516,940 (GRCm39) splice site probably null
R5015:Scn10a UTSW 9 119,451,987 (GRCm39) missense possibly damaging 0.93
R5193:Scn10a UTSW 9 119,438,721 (GRCm39) missense probably damaging 1.00
R5211:Scn10a UTSW 9 119,490,298 (GRCm39) missense possibly damaging 0.87
R5320:Scn10a UTSW 9 119,477,175 (GRCm39) missense probably damaging 1.00
R5400:Scn10a UTSW 9 119,438,100 (GRCm39) missense probably damaging 0.99
R5448:Scn10a UTSW 9 119,517,013 (GRCm39) missense probably benign 0.25
R5457:Scn10a UTSW 9 119,523,193 (GRCm39) missense probably damaging 1.00
R5554:Scn10a UTSW 9 119,523,196 (GRCm39) missense probably benign 0.01
R5680:Scn10a UTSW 9 119,453,202 (GRCm39) missense probably damaging 1.00
R5762:Scn10a UTSW 9 119,464,507 (GRCm39) critical splice donor site probably null
R5935:Scn10a UTSW 9 119,456,237 (GRCm39) missense probably damaging 0.99
R5956:Scn10a UTSW 9 119,460,626 (GRCm39) missense probably damaging 1.00
R6041:Scn10a UTSW 9 119,438,535 (GRCm39) missense probably damaging 1.00
R6047:Scn10a UTSW 9 119,451,897 (GRCm39) missense probably benign 0.20
R6132:Scn10a UTSW 9 119,442,761 (GRCm39) missense possibly damaging 0.94
R6156:Scn10a UTSW 9 119,464,649 (GRCm39) missense probably benign 0.00
R6309:Scn10a UTSW 9 119,453,181 (GRCm39) missense possibly damaging 0.95
R6318:Scn10a UTSW 9 119,456,181 (GRCm39) missense probably damaging 1.00
R6394:Scn10a UTSW 9 119,490,386 (GRCm39) missense probably benign 0.36
R6711:Scn10a UTSW 9 119,438,979 (GRCm39) missense probably damaging 1.00
R6751:Scn10a UTSW 9 119,500,617 (GRCm39) missense probably damaging 1.00
R6877:Scn10a UTSW 9 119,438,848 (GRCm39) missense probably damaging 0.96
R6909:Scn10a UTSW 9 119,438,856 (GRCm39) missense probably damaging 1.00
R7023:Scn10a UTSW 9 119,442,610 (GRCm39) missense probably damaging 0.99
R7205:Scn10a UTSW 9 119,442,616 (GRCm39) missense probably damaging 0.99
R7254:Scn10a UTSW 9 119,447,921 (GRCm39) missense probably damaging 0.99
R7261:Scn10a UTSW 9 119,438,790 (GRCm39) missense probably damaging 0.97
R7283:Scn10a UTSW 9 119,493,845 (GRCm39) critical splice donor site probably null
R7453:Scn10a UTSW 9 119,467,618 (GRCm39) missense probably benign
R7561:Scn10a UTSW 9 119,523,390 (GRCm39) start codon destroyed probably null 0.66
R7590:Scn10a UTSW 9 119,495,466 (GRCm39) missense probably damaging 1.00
R7759:Scn10a UTSW 9 119,477,198 (GRCm39) nonsense probably null
R7765:Scn10a UTSW 9 119,438,970 (GRCm39) missense possibly damaging 0.90
R7851:Scn10a UTSW 9 119,446,828 (GRCm39) missense probably damaging 0.99
R7875:Scn10a UTSW 9 119,464,508 (GRCm39) critical splice donor site probably null
R7975:Scn10a UTSW 9 119,501,286 (GRCm39) missense probably benign 0.31
R8010:Scn10a UTSW 9 119,490,233 (GRCm39) missense possibly damaging 0.56
R8027:Scn10a UTSW 9 119,462,856 (GRCm39) missense probably damaging 0.99
R8221:Scn10a UTSW 9 119,446,829 (GRCm39) missense probably damaging 1.00
R8249:Scn10a UTSW 9 119,446,840 (GRCm39) missense probably damaging 1.00
R8319:Scn10a UTSW 9 119,499,455 (GRCm39) missense probably benign 0.04
R8323:Scn10a UTSW 9 119,438,462 (GRCm39) missense possibly damaging 0.95
R8539:Scn10a UTSW 9 119,467,840 (GRCm39) nonsense probably null
R8679:Scn10a UTSW 9 119,501,194 (GRCm39) missense probably damaging 0.97
R8680:Scn10a UTSW 9 119,520,509 (GRCm39) critical splice donor site probably null
R8844:Scn10a UTSW 9 119,446,791 (GRCm39) missense probably damaging 0.98
R9011:Scn10a UTSW 9 119,459,160 (GRCm39) missense probably damaging 0.99
R9055:Scn10a UTSW 9 119,451,958 (GRCm39) missense probably damaging 0.98
R9206:Scn10a UTSW 9 119,445,827 (GRCm39) missense probably damaging 1.00
R9615:Scn10a UTSW 9 119,487,504 (GRCm39) missense possibly damaging 0.55
R9622:Scn10a UTSW 9 119,438,046 (GRCm39) missense probably benign 0.11
R9641:Scn10a UTSW 9 119,445,869 (GRCm39) missense possibly damaging 0.60
R9651:Scn10a UTSW 9 119,439,063 (GRCm39) missense probably benign 0.17
X0058:Scn10a UTSW 9 119,438,430 (GRCm39) nonsense probably null
Z1177:Scn10a UTSW 9 119,453,211 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TGGGGCATCAGTAAAACTCAC -3'
(R):5'- CAGTGAGCTGTGGTTCTTCC -3'

Sequencing Primer
(F):5'- AGGACATTTGAGTGCTCCC -3'
(R):5'- TGCTCAGGCTTCTACCAGGAG -3'
Posted On 2014-08-01