Incidental Mutation 'R4729:Scn10a'
ID 358693
Institutional Source Beutler Lab
Gene Symbol Scn10a
Ensembl Gene ENSMUSG00000034533
Gene Name sodium channel, voltage-gated, type X, alpha
Synonyms Nav1.8
MMRRC Submission 041603-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R4729 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 119437522-119548388 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119500592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 229 (I229T)
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: I229T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533
AA Change: I229T

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: I229T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000214408
AA Change: I229T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216583
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,667,187 (GRCm39) L220H unknown Het
Amt T A 9: 108,177,851 (GRCm39) L272Q probably damaging Het
Ank2 G C 3: 126,770,545 (GRCm39) Y894* probably null Het
Ankzf1 T A 1: 75,170,908 (GRCm39) F105I probably damaging Het
Aox4 C A 1: 58,298,236 (GRCm39) Y1067* probably null Het
BC034090 T A 1: 155,100,836 (GRCm39) Q476L probably damaging Het
Bhmt G T 13: 93,763,871 (GRCm39) R57S probably damaging Het
Cacna1c A T 6: 118,633,136 (GRCm39) F964L probably damaging Het
Celsr3 A C 9: 108,724,851 (GRCm39) S396R probably benign Het
Cpne4 C A 9: 104,799,755 (GRCm39) Q191K probably damaging Het
Csnk1g2 T C 10: 80,475,038 (GRCm39) Y352H probably benign Het
D630003M21Rik A G 2: 158,058,623 (GRCm39) S426P probably damaging Het
Dennd10 T A 19: 60,823,309 (GRCm39) F315I probably benign Het
Dido1 G T 2: 180,329,443 (GRCm39) N326K probably benign Het
E2f2 T A 4: 135,911,760 (GRCm39) I257N probably damaging Het
Elfn1 T G 5: 139,959,413 (GRCm39) F806V probably damaging Het
Eml6 T A 11: 29,783,204 (GRCm39) Y559F probably damaging Het
Erich6 A G 3: 58,543,480 (GRCm39) probably null Het
Fam78a T C 2: 31,972,617 (GRCm39) N101S probably damaging Het
Fam83h A G 15: 75,874,185 (GRCm39) S1051P probably benign Het
Galns C T 8: 123,330,195 (GRCm39) G112D probably damaging Het
Gm9923 A G 10: 72,145,524 (GRCm39) K125R probably damaging Het
Hectd3 G A 4: 116,854,415 (GRCm39) V326M probably damaging Het
Iars2 A G 1: 185,048,248 (GRCm39) S495P possibly damaging Het
Ice1 T C 13: 70,754,503 (GRCm39) R528G probably damaging Het
Igkv12-38 T A 6: 69,920,368 (GRCm39) Y50F possibly damaging Het
Inpp5j T C 11: 3,445,025 (GRCm39) S883G probably damaging Het
Irf8 T C 8: 121,480,178 (GRCm39) S139P probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Kcnq4 G T 4: 120,570,271 (GRCm39) D357E possibly damaging Het
Klhl1 A G 14: 96,517,584 (GRCm39) L364P probably damaging Het
Krt7 A G 15: 101,318,439 (GRCm39) I309V probably benign Het
Krt76 G T 15: 101,797,516 (GRCm39) A281D probably damaging Het
Lancl2 T C 6: 57,714,697 (GRCm39) F430L probably damaging Het
Llgl2 T C 11: 115,739,125 (GRCm39) V332A probably damaging Het
Lrrc26 A T 2: 25,180,076 (GRCm39) T26S probably benign Het
Lrrk1 T A 7: 65,912,041 (GRCm39) M1840L probably benign Het
Lyst G A 13: 13,812,486 (GRCm39) C966Y probably damaging Het
Mad1l1 T A 5: 140,247,266 (GRCm39) S354C possibly damaging Het
Mbtps1 C T 8: 120,252,159 (GRCm39) G577D probably damaging Het
Mycbp2 C T 14: 103,426,027 (GRCm39) R2366H probably damaging Het
Myo18a T G 11: 77,668,511 (GRCm39) probably null Het
Naip5 G A 13: 100,358,639 (GRCm39) R866C possibly damaging Het
Nav2 T A 7: 49,102,567 (GRCm39) V455E probably benign Het
Neb A G 2: 52,153,674 (GRCm39) I2417T possibly damaging Het
Nme5 C T 18: 34,702,890 (GRCm39) A133T probably benign Het
Nradd T C 9: 110,450,979 (GRCm39) D51G possibly damaging Het
Pard3b A G 1: 62,250,843 (GRCm39) R591G probably damaging Het
Pcbp4 T C 9: 106,337,929 (GRCm39) F73S probably damaging Het
Pcdhb11 C T 18: 37,555,419 (GRCm39) Q250* probably null Het
Pde1c T A 6: 56,049,194 (GRCm39) K766N probably damaging Het
Phf21b G A 15: 84,738,942 (GRCm39) Q40* probably null Het
Prr14 A G 7: 127,073,868 (GRCm39) D244G probably benign Het
Rab11fip5 C T 6: 85,351,249 (GRCm39) A88T probably damaging Het
Rad54l2 A T 9: 106,593,317 (GRCm39) S428T probably benign Het
Rdh9 A G 10: 127,612,621 (GRCm39) I90V probably benign Het
Rhag G T 17: 41,139,292 (GRCm39) G76C probably damaging Het
Riok3 T A 18: 12,261,984 (GRCm39) V6E possibly damaging Het
Rnf7l A T 10: 63,257,244 (GRCm39) V92E probably damaging Het
Slco1a1 G T 6: 141,854,695 (GRCm39) T652K probably benign Het
Slit1 T A 19: 41,635,459 (GRCm39) I345F probably damaging Het
Snrnp200 A T 2: 127,074,857 (GRCm39) I1477F probably damaging Het
Snx31 G A 15: 36,523,698 (GRCm39) T328I possibly damaging Het
Strn A G 17: 78,965,390 (GRCm39) F634S probably damaging Het
Tmem101 C T 11: 102,047,155 (GRCm39) G6R probably benign Het
Tmem199 C G 11: 78,399,506 (GRCm39) G131R probably benign Het
Trim66 A G 7: 109,055,267 (GRCm39) probably null Het
Ttn G T 2: 76,681,929 (GRCm39) probably benign Het
Upk3bl T C 5: 136,086,247 (GRCm39) L61P probably benign Het
Vmn2r108 A G 17: 20,692,632 (GRCm39) Y75H probably damaging Het
Vmn2r91 T A 17: 18,327,906 (GRCm39) I500K probably damaging Het
Vps18 C T 2: 119,124,272 (GRCm39) R400C probably damaging Het
Zeb1 C T 18: 5,767,286 (GRCm39) P599L probably damaging Het
Zfhx4 G T 3: 5,464,557 (GRCm39) A1572S probably damaging Het
Zfp677 T A 17: 21,617,680 (GRCm39) C246S possibly damaging Het
Zfp719 T A 7: 43,239,834 (GRCm39) I474N probably damaging 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
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'- AGTCAAGAGTCCCTGTCCTG -3'
(R):5'- CATTCATGTTTGTAGATGGCAATGC -3'

Sequencing Primer
(F):5'- AAGAGTCCCTGTCCTGGAACATTG -3'
(R):5'- GCAATGCTGCTGGAATTACC -3'
Posted On 2015-11-11