Incidental Mutation 'R5935:Scn10a'
ID 462193
Institutional Source Beutler Lab
Gene Symbol Scn10a
Ensembl Gene ENSMUSG00000034533
Gene Name sodium channel, voltage-gated, type X, alpha
Synonyms Nav1.8
MMRRC Submission 044129-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R5935 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 119437522-119548388 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 119456237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1194 (T1194I)
Ref Sequence ENSEMBL: ENSMUSP00000148987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084787] [ENSMUST00000213392] [ENSMUST00000214408]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000084787
AA Change: T1195I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533
AA Change: T1195I

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 probably damaging
Transcript: ENSMUST00000213392
AA Change: T1194I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000214408
AA Change: T1195I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.7191 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (92/96)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b C G 8: 43,974,335 (GRCm39) M222I probably benign Het
Ahnak T C 19: 8,992,546 (GRCm39) V4610A possibly damaging Het
Ankrd13c C T 3: 157,653,220 (GRCm39) silent Het
Cables2 A G 2: 179,903,841 (GRCm39) probably benign Het
Cabp2 C A 19: 4,136,497 (GRCm39) A181D probably damaging Het
Camsap3 A G 8: 3,651,999 (GRCm39) D265G probably damaging Het
Cbs G T 17: 31,851,853 (GRCm39) T50N probably damaging Het
Cenpa A T 5: 30,830,381 (GRCm39) Q83L possibly damaging Het
Cit A T 5: 116,063,598 (GRCm39) probably benign Het
Ckap5 A G 2: 91,445,445 (GRCm39) E1694G possibly damaging Het
Copz1 A T 15: 103,203,197 (GRCm39) M104L probably benign Het
Crot T A 5: 9,024,192 (GRCm39) M335L probably benign Het
Ctnna2 T C 6: 77,120,904 (GRCm39) D373G probably benign Het
Ctu2 G A 8: 123,203,693 (GRCm39) probably benign Het
Cyp3a59 T A 5: 146,027,455 (GRCm39) Y75* probably null Het
Dbi A G 1: 120,048,583 (GRCm39) I21T probably benign Het
Dcun1d3 A G 7: 119,458,799 (GRCm39) S79P probably benign Het
Dock10 T A 1: 80,483,304 (GRCm39) probably benign Het
Dstyk T A 1: 132,381,875 (GRCm39) I543N probably damaging Het
Epx G T 11: 87,756,318 (GRCm39) A621E probably damaging Het
Farp2 G A 1: 93,548,367 (GRCm39) probably null Het
Gm11992 C T 11: 9,002,711 (GRCm39) P25S probably damaging Het
Grik5 A T 7: 24,758,502 (GRCm39) M307K possibly damaging Het
Hnf1b A T 11: 83,773,503 (GRCm39) N234I probably damaging Het
Htr2a A G 14: 74,882,530 (GRCm39) D172G probably damaging Het
Ifit1bl2 T C 19: 34,597,128 (GRCm39) T163A probably benign Het
Igsf10 A T 3: 59,235,578 (GRCm39) D1534E probably benign Het
Il3ra T G 14: 14,350,799 (GRCm38) V178G probably damaging Het
Itgb1 A T 8: 129,439,718 (GRCm39) K136* probably null Het
Itprid1 A T 6: 55,874,754 (GRCm39) R235* probably null Het
Lama2 T A 10: 26,891,494 (GRCm39) I2540F probably benign Het
Lrp8 C A 4: 107,714,493 (GRCm39) H622Q probably damaging Het
Lrrc2 T A 9: 110,795,629 (GRCm39) M138K probably benign Het
Lrrk2 C A 15: 91,630,034 (GRCm39) H1242N probably benign Het
Lsm11 G C 11: 45,835,445 (GRCm39) R99G probably benign Het
Mif4gd C T 11: 115,500,439 (GRCm39) V40M probably benign Het
Mpp3 A T 11: 101,916,241 (GRCm39) V37D probably damaging Het
Mre11a T A 9: 14,698,258 (GRCm39) D35E probably damaging Het
Mroh4 C A 15: 74,493,003 (GRCm39) V233F probably damaging Het
Npy2r A T 3: 82,448,068 (GRCm39) S123T possibly damaging Het
Nrip2 A G 6: 128,385,361 (GRCm39) Y264C possibly damaging Het
Obscn A G 11: 58,897,639 (GRCm39) S6639P unknown Het
Or10d4 C T 9: 39,580,386 (GRCm39) T11I probably benign Het
Or51t4 T A 7: 102,598,017 (GRCm39) F105Y probably benign Het
Osbpl5 C T 7: 143,310,695 (GRCm39) probably benign Het
Panx1 A T 9: 14,921,513 (GRCm39) Y121N probably damaging Het
Pcdhb8 A G 18: 37,489,243 (GRCm39) D307G probably damaging Het
Pde1b A G 15: 103,429,866 (GRCm39) K120E possibly damaging Het
Pdzrn4 T C 15: 92,295,255 (GRCm39) S154P probably benign Het
Ppp1r13b T C 12: 111,796,876 (GRCm39) K889R probably benign Het
Ppp4r3a T A 12: 101,017,872 (GRCm39) D439V probably damaging Het
Ptk2b A G 14: 66,411,328 (GRCm39) I401T probably damaging Het
Rab24 T C 13: 55,468,343 (GRCm39) T153A probably damaging Het
Rarb C A 14: 16,434,264 (GRCm38) A305S probably damaging Het
Rc3h2 GCC GCCC 2: 37,304,745 (GRCm39) probably null Het
Scn3a G T 2: 65,295,180 (GRCm39) N1514K probably damaging Het
Serpinb3d T C 1: 107,011,105 (GRCm39) T36A probably benign Het
Shisa5 T A 9: 108,885,751 (GRCm39) M229K possibly damaging Het
Sik2 C T 9: 50,828,431 (GRCm39) G204R probably damaging Het
Sla C T 15: 66,665,554 (GRCm39) G46E probably damaging Het
Slc35g3 A T 11: 69,652,509 (GRCm39) M1K probably null Het
Slc5a7 A T 17: 54,583,972 (GRCm39) Y439* probably null Het
Slc9a1 T C 4: 133,147,176 (GRCm39) probably benign Het
Slitrk6 T G 14: 110,987,305 (GRCm39) T801P probably benign Het
Spata31d1c T C 13: 65,184,894 (GRCm39) V812A possibly damaging Het
Spata31g1 T C 4: 42,971,465 (GRCm39) L230P probably benign Het
Spef1l G A 7: 139,556,526 (GRCm39) H154Y probably benign Het
Sphkap A C 1: 83,317,320 (GRCm39) L59R probably damaging Het
Spmip8 A T 8: 96,046,620 (GRCm39) T98S possibly damaging Het
Srsf10 C A 4: 135,583,553 (GRCm39) R6S probably damaging Het
Supt5 T A 7: 28,028,900 (GRCm39) R131S probably benign Het
Syne1 T C 10: 5,310,706 (GRCm39) probably null Het
Tet2 T A 3: 133,194,296 (GRCm39) H46L possibly damaging Het
Tnfsf4 T A 1: 161,244,819 (GRCm39) N169K probably damaging Het
Tprg1 A T 16: 25,136,011 (GRCm39) M1L possibly damaging Het
Tsen2 A G 6: 115,536,556 (GRCm39) Y104C probably damaging Het
Ttc6 A G 12: 57,720,590 (GRCm39) Y952C probably damaging Het
Umod A T 7: 119,070,650 (GRCm39) I414N probably damaging Het
Usp10 G T 8: 120,673,828 (GRCm39) V398L possibly damaging Het
Vmn2r23 A T 6: 123,718,854 (GRCm39) I736F possibly damaging Het
Vmn2r65 C A 7: 84,592,869 (GRCm39) G446V probably benign Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Yars2 A G 16: 16,127,335 (GRCm39) I467V probably benign Het
Ykt6 A G 11: 5,909,338 (GRCm39) E49G possibly damaging Het
Zan T A 5: 137,442,192 (GRCm39) M1907L unknown Het
Zdhhc2 T C 8: 40,917,277 (GRCm39) S225P probably damaging Het
Zfc3h1 A T 10: 115,267,262 (GRCm39) probably benign 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
R1945:Scn10a UTSW 9 119,520,520 (GRCm39) missense possibly damaging 0.91
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
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'- CTGACATGCAAACTTACCCTG -3'
(R):5'- AAGCTGTTCTCCAGAGGCTG -3'

Sequencing Primer
(F):5'- AGACAACCGATCAGCTTGTGTTTG -3'
(R):5'- TTCTCCAGAGGCTGTGGGC -3'
Posted On 2017-02-28