Incidental Mutation 'R1781:Scn11a'
ID 195300
Institutional Source Beutler Lab
Gene Symbol Scn11a
Ensembl Gene ENSMUSG00000034115
Gene Name sodium channel, voltage-gated, type XI, alpha
Synonyms NaN, NSS2, NaT, SNS2
MMRRC Submission 039812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R1781 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 119582829-119654522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119584148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1489 (I1489N)
Ref Sequence ENSEMBL: ENSMUSP00000149420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070617] [ENSMUST00000215718]
AlphaFold Q9R053
Predicted Effect probably damaging
Transcript: ENSMUST00000070617
AA Change: I1489N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: I1489N

DomainStartEndE-ValueType
low complexity region 27 43 N/A INTRINSIC
Pfam:Ion_trans 128 409 1.1e-72 PFAM
low complexity region 475 487 N/A INTRINSIC
Pfam:Ion_trans 574 810 4e-57 PFAM
Pfam:Na_trans_assoc 814 1030 4.1e-29 PFAM
Pfam:Ion_trans 1034 1300 5.7e-66 PFAM
Pfam:Ion_trans 1346 1595 3e-58 PFAM
low complexity region 1683 1694 N/A INTRINSIC
low complexity region 1733 1744 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000215718
AA Change: I1489N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9459 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.6%
  • 20x: 90.1%
Validation Efficiency 97% (88/91)
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, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous and heterozygous for one null allele display decreased duration of inflammation induced thermal hyperalgesia and decreased late phase pain responses to inflammatory stimuli. Mice homozygous for a second allele appear normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 59,932,117 (GRCm39) K211E probably damaging Het
Abca13 T A 11: 9,219,194 (GRCm39) L376Q probably damaging Het
Abca17 T C 17: 24,486,531 (GRCm39) T1499A possibly damaging Het
Anks6 A C 4: 47,043,639 (GRCm39) N363K possibly damaging Het
Apob T A 12: 8,059,603 (GRCm39) I2695N possibly damaging Het
Arhgef18 C T 8: 3,430,495 (GRCm39) R123W probably damaging Het
Atg14 T A 14: 47,786,607 (GRCm39) probably null Het
Atg2a A T 19: 6,306,243 (GRCm39) I1368F probably damaging Het
Btbd9 A G 17: 30,732,567 (GRCm39) S373P probably damaging Het
Ccdc83 T C 7: 89,899,749 (GRCm39) E41G probably damaging Het
Ccnh T C 13: 85,354,254 (GRCm39) S233P possibly damaging Het
Cdh8 T C 8: 99,917,094 (GRCm39) probably null Het
Cdh8 A T 8: 100,006,290 (GRCm39) I99N probably damaging Het
Cdr2 G A 7: 120,557,268 (GRCm39) P419L probably benign Het
Cds1 T A 5: 101,960,416 (GRCm39) I289K possibly damaging Het
Cherp G A 8: 73,221,615 (GRCm39) T394I probably damaging Het
Cyp4f17 T G 17: 32,742,993 (GRCm39) I222S possibly damaging Het
Dcc A G 18: 71,511,788 (GRCm39) S856P probably benign Het
Dcp1a C T 14: 30,235,032 (GRCm39) T221I probably benign Het
Ddx10 A G 9: 53,118,845 (GRCm39) S475P probably damaging Het
Dennd5b G T 6: 148,928,896 (GRCm39) A759E probably damaging Het
Disp2 G A 2: 118,623,042 (GRCm39) G1258D probably damaging Het
Fhdc1 A T 3: 84,356,111 (GRCm39) D444E probably damaging Het
Fhod1 T C 8: 106,074,421 (GRCm39) probably benign Het
Gcnt7 T C 2: 172,296,800 (GRCm39) K8R probably benign Het
Gk5 C T 9: 96,015,508 (GRCm39) T108I possibly damaging Het
Gm8214 C A 1: 183,414,129 (GRCm39) noncoding transcript Het
Gnl1 A T 17: 36,298,638 (GRCm39) I434F probably damaging Het
Golga2 T C 2: 32,196,588 (GRCm39) Y986H probably damaging Het
Gpr21 T C 2: 37,407,550 (GRCm39) V32A probably benign Het
Grb14 A T 2: 64,805,899 (GRCm39) probably null Het
H6pd A T 4: 150,080,388 (GRCm39) F144L probably damaging Het
Hunk A G 16: 90,229,448 (GRCm39) Y27C probably damaging Het
Ints7 C T 1: 191,328,396 (GRCm39) T223M possibly damaging Het
Kcnmb2 T C 3: 32,233,152 (GRCm39) probably null Het
Lilra6 A T 7: 3,918,066 (GRCm39) L26H probably benign Het
Mc4r A T 18: 66,992,918 (GRCm39) V65E probably damaging Het
Mgam G A 6: 40,646,797 (GRCm39) G708R probably damaging Het
Mllt6 A G 11: 97,563,395 (GRCm39) D326G probably benign Het
Myo7a A T 7: 97,722,331 (GRCm39) V1198D probably damaging Het
Nampt T C 12: 32,883,037 (GRCm39) V74A probably damaging Het
Nlrp4b G C 7: 10,449,266 (GRCm39) V123L probably benign Het
Ntpcr T A 8: 126,472,141 (GRCm39) L150Q probably damaging Het
Obscn C T 11: 58,997,163 (GRCm39) E1513K probably damaging Het
Ola1 T C 2: 72,987,099 (GRCm39) K178E possibly damaging Het
Opalin T C 19: 41,056,070 (GRCm39) probably null Het
Or10g6 A G 9: 39,934,541 (GRCm39) N284S probably damaging Het
Or13a20 A T 7: 140,232,419 (GRCm39) I176F probably damaging Het
Or2ad1 C T 13: 21,326,934 (GRCm39) V98I probably benign Het
Or2w2 C T 13: 21,757,711 (GRCm39) G305D probably damaging Het
Or3a10 A T 11: 73,935,786 (GRCm39) F105I probably damaging Het
Or51ah3 C T 7: 103,209,773 (GRCm39) P30S probably benign Het
Or52ae9 T C 7: 103,390,028 (GRCm39) M140V probably benign Het
Or52e15 A T 7: 104,645,315 (GRCm39) F265L possibly damaging Het
Or5p62 A G 7: 107,771,090 (GRCm39) V287A probably benign Het
Or7a35 T C 10: 78,853,159 (GRCm39) M1T probably null Het
P2ry12 A G 3: 59,125,199 (GRCm39) F159L probably benign Het
Paqr7 T C 4: 134,234,592 (GRCm39) probably null Het
Parp1 T C 1: 180,415,578 (GRCm39) S466P probably benign Het
Parp4 T A 14: 56,864,838 (GRCm39) probably null Het
Pcdh1 T C 18: 38,322,977 (GRCm39) D952G probably damaging Het
Pde6c T C 19: 38,140,146 (GRCm39) S336P possibly damaging Het
Pgk2 T C 17: 40,519,398 (GRCm39) D10G probably benign Het
Phf20l1 A G 15: 66,504,674 (GRCm39) T771A probably damaging Het
Pkdrej A G 15: 85,705,372 (GRCm39) V188A possibly damaging Het
Plekhm1 A G 11: 103,285,682 (GRCm39) L251P probably damaging Het
Prex2 A T 1: 11,270,179 (GRCm39) N1288I probably benign Het
Sarnp T C 10: 128,669,191 (GRCm39) L16P probably damaging Het
Scgb3a2 T C 18: 43,900,033 (GRCm39) probably benign Het
Scn3a A T 2: 65,302,729 (GRCm39) L1239Q probably damaging Het
Shisa9 T C 16: 12,085,521 (GRCm39) S377P probably benign Het
Slc22a30 T A 19: 8,313,136 (GRCm39) T550S probably damaging Het
Slc25a11 T C 11: 70,535,651 (GRCm39) T296A probably benign Het
Slc35f1 T A 10: 52,938,532 (GRCm39) probably null Het
Slc6a13 A G 6: 121,311,811 (GRCm39) E396G probably damaging Het
Spata31d1c T C 13: 65,183,985 (GRCm39) I509T probably benign Het
Srsf9 C A 5: 115,465,481 (GRCm39) Y9* probably null Het
Tasor2 T C 13: 3,634,759 (GRCm39) T683A possibly damaging Het
Tbx20 T C 9: 24,636,795 (GRCm39) I431V probably benign Het
Tespa1 G A 10: 130,184,119 (GRCm39) G67S probably benign Het
Trhde A T 10: 114,424,405 (GRCm39) V460E possibly damaging Het
Trip12 A T 1: 84,708,342 (GRCm39) F1739I probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Umodl1 G A 17: 31,187,524 (GRCm39) R196H probably damaging Het
Vezf1 G T 11: 87,972,447 (GRCm39) M269I probably benign Het
Vmn1r35 A T 6: 66,656,550 (GRCm39) M40K probably benign Het
Vmn1r9 G T 6: 57,048,300 (GRCm39) C125F probably benign Het
Vmn2r12 C A 5: 109,239,594 (GRCm39) G323V probably benign Het
Vmn2r79 A T 7: 86,651,555 (GRCm39) H318L probably benign Het
Zfhx3 T A 8: 109,520,167 (GRCm39) S430T probably benign Het
Other mutations in Scn11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Scn11a APN 9 119,599,572 (GRCm39) missense probably benign 0.00
IGL00272:Scn11a APN 9 119,645,669 (GRCm39) missense probably damaging 0.98
IGL00332:Scn11a APN 9 119,598,982 (GRCm39) missense probably damaging 1.00
IGL00533:Scn11a APN 9 119,603,447 (GRCm39) missense probably damaging 1.00
IGL00972:Scn11a APN 9 119,623,004 (GRCm39) missense probably benign 0.44
IGL01338:Scn11a APN 9 119,613,227 (GRCm39) splice site probably benign
IGL01534:Scn11a APN 9 119,609,888 (GRCm39) missense probably benign 0.27
IGL01838:Scn11a APN 9 119,587,649 (GRCm39) missense probably damaging 1.00
IGL01991:Scn11a APN 9 119,648,970 (GRCm39) missense probably damaging 0.97
IGL02057:Scn11a APN 9 119,594,536 (GRCm39) missense probably damaging 1.00
IGL02290:Scn11a APN 9 119,603,508 (GRCm39) missense probably damaging 0.97
IGL02454:Scn11a APN 9 119,587,610 (GRCm39) missense probably benign 0.00
IGL02517:Scn11a APN 9 119,621,464 (GRCm39) missense probably damaging 1.00
IGL02567:Scn11a APN 9 119,633,555 (GRCm39) missense probably damaging 0.99
IGL02587:Scn11a APN 9 119,634,750 (GRCm39) missense probably damaging 1.00
IGL03069:Scn11a APN 9 119,619,029 (GRCm39) missense probably benign 0.16
IGL03171:Scn11a APN 9 119,648,913 (GRCm39) missense probably benign 0.00
Kleinie UTSW 9 119,632,569 (GRCm39) missense probably benign 0.16
H8441:Scn11a UTSW 9 119,636,976 (GRCm39) missense probably damaging 1.00
PIT4449001:Scn11a UTSW 9 119,599,014 (GRCm39) missense probably damaging 1.00
R0304:Scn11a UTSW 9 119,648,928 (GRCm39) missense probably benign 0.00
R0519:Scn11a UTSW 9 119,619,185 (GRCm39) missense probably damaging 1.00
R0658:Scn11a UTSW 9 119,640,226 (GRCm39) missense probably benign 0.41
R0828:Scn11a UTSW 9 119,584,073 (GRCm39) missense probably benign 0.00
R0893:Scn11a UTSW 9 119,632,396 (GRCm39) splice site probably null
R0932:Scn11a UTSW 9 119,636,876 (GRCm39) missense probably damaging 1.00
R1061:Scn11a UTSW 9 119,624,729 (GRCm39) missense probably damaging 0.98
R1161:Scn11a UTSW 9 119,584,123 (GRCm39) nonsense probably null
R1162:Scn11a UTSW 9 119,634,710 (GRCm39) splice site probably benign
R1310:Scn11a UTSW 9 119,584,123 (GRCm39) nonsense probably null
R1589:Scn11a UTSW 9 119,598,873 (GRCm39) missense probably damaging 1.00
R1681:Scn11a UTSW 9 119,633,478 (GRCm39) missense possibly damaging 0.46
R1812:Scn11a UTSW 9 119,609,931 (GRCm39) nonsense probably null
R1901:Scn11a UTSW 9 119,608,102 (GRCm39) nonsense probably null
R1978:Scn11a UTSW 9 119,609,861 (GRCm39) nonsense probably null
R1985:Scn11a UTSW 9 119,583,744 (GRCm39) missense probably benign 0.19
R2022:Scn11a UTSW 9 119,640,274 (GRCm39) missense possibly damaging 0.88
R2072:Scn11a UTSW 9 119,640,274 (GRCm39) missense possibly damaging 0.88
R2098:Scn11a UTSW 9 119,621,560 (GRCm39) missense possibly damaging 0.67
R2163:Scn11a UTSW 9 119,584,091 (GRCm39) missense probably damaging 1.00
R2250:Scn11a UTSW 9 119,587,668 (GRCm39) missense probably benign 0.01
R2373:Scn11a UTSW 9 119,642,252 (GRCm39) missense probably benign 0.43
R2508:Scn11a UTSW 9 119,594,595 (GRCm39) missense probably damaging 1.00
R3757:Scn11a UTSW 9 119,632,569 (GRCm39) missense probably benign 0.16
R3767:Scn11a UTSW 9 119,613,115 (GRCm39) missense probably damaging 1.00
R3770:Scn11a UTSW 9 119,613,115 (GRCm39) missense probably damaging 1.00
R4089:Scn11a UTSW 9 119,624,719 (GRCm39) splice site probably null
R4092:Scn11a UTSW 9 119,619,036 (GRCm39) missense probably benign 0.03
R4247:Scn11a UTSW 9 119,636,952 (GRCm39) missense probably damaging 1.00
R4279:Scn11a UTSW 9 119,583,428 (GRCm39) missense probably benign 0.25
R4299:Scn11a UTSW 9 119,594,572 (GRCm39) missense probably damaging 0.97
R4403:Scn11a UTSW 9 119,624,733 (GRCm39) missense probably damaging 1.00
R4468:Scn11a UTSW 9 119,584,053 (GRCm39) missense probably damaging 1.00
R4542:Scn11a UTSW 9 119,584,200 (GRCm39) missense probably damaging 1.00
R4644:Scn11a UTSW 9 119,644,269 (GRCm39) splice site probably null
R4739:Scn11a UTSW 9 119,583,627 (GRCm39) missense probably benign 0.39
R4809:Scn11a UTSW 9 119,648,936 (GRCm39) missense probably benign 0.00
R4954:Scn11a UTSW 9 119,587,725 (GRCm39) missense possibly damaging 0.84
R5012:Scn11a UTSW 9 119,609,944 (GRCm39) missense probably benign 0.31
R5044:Scn11a UTSW 9 119,648,897 (GRCm39) missense probably damaging 0.98
R5222:Scn11a UTSW 9 119,644,268 (GRCm39) splice site probably null
R5224:Scn11a UTSW 9 119,583,858 (GRCm39) missense probably damaging 1.00
R5400:Scn11a UTSW 9 119,598,974 (GRCm39) missense probably damaging 0.97
R5555:Scn11a UTSW 9 119,584,304 (GRCm39) missense probably damaging 1.00
R5711:Scn11a UTSW 9 119,618,990 (GRCm39) missense probably damaging 1.00
R5950:Scn11a UTSW 9 119,640,190 (GRCm39) missense probably damaging 1.00
R5984:Scn11a UTSW 9 119,613,082 (GRCm39) missense probably benign
R6057:Scn11a UTSW 9 119,594,514 (GRCm39) missense probably damaging 1.00
R6104:Scn11a UTSW 9 119,624,744 (GRCm39) missense probably damaging 1.00
R6180:Scn11a UTSW 9 119,583,933 (GRCm39) missense probably benign 0.00
R6892:Scn11a UTSW 9 119,636,035 (GRCm39) missense possibly damaging 0.53
R6908:Scn11a UTSW 9 119,621,492 (GRCm39) missense probably damaging 1.00
R6949:Scn11a UTSW 9 119,594,580 (GRCm39) missense probably benign 0.04
R7112:Scn11a UTSW 9 119,583,875 (GRCm39) missense probably damaging 1.00
R7232:Scn11a UTSW 9 119,588,982 (GRCm39) missense probably damaging 1.00
R7261:Scn11a UTSW 9 119,648,899 (GRCm39) missense probably damaging 0.99
R7265:Scn11a UTSW 9 119,644,331 (GRCm39) missense probably damaging 1.00
R7302:Scn11a UTSW 9 119,636,017 (GRCm39) missense probably benign 0.03
R7391:Scn11a UTSW 9 119,624,783 (GRCm39) missense probably damaging 1.00
R7441:Scn11a UTSW 9 119,587,692 (GRCm39) missense probably benign 0.01
R7479:Scn11a UTSW 9 119,588,941 (GRCm39) missense probably benign 0.38
R7608:Scn11a UTSW 9 119,644,379 (GRCm39) splice site probably null
R7768:Scn11a UTSW 9 119,644,338 (GRCm39) missense probably benign 0.13
R7785:Scn11a UTSW 9 119,645,622 (GRCm39) missense probably benign 0.00
R7794:Scn11a UTSW 9 119,594,580 (GRCm39) missense probably damaging 0.99
R7818:Scn11a UTSW 9 119,613,177 (GRCm39) missense probably damaging 0.97
R7884:Scn11a UTSW 9 119,633,617 (GRCm39) missense probably benign 0.01
R7988:Scn11a UTSW 9 119,594,503 (GRCm39) missense probably damaging 0.97
R8049:Scn11a UTSW 9 119,584,149 (GRCm39) missense probably damaging 1.00
R8127:Scn11a UTSW 9 119,633,578 (GRCm39) missense probably damaging 1.00
R8274:Scn11a UTSW 9 119,632,548 (GRCm39) missense probably benign
R8344:Scn11a UTSW 9 119,611,036 (GRCm39) missense probably benign 0.00
R8346:Scn11a UTSW 9 119,608,047 (GRCm39) missense probably damaging 1.00
R8511:Scn11a UTSW 9 119,618,981 (GRCm39) missense probably damaging 0.99
R8819:Scn11a UTSW 9 119,645,586 (GRCm39) missense probably benign 0.19
R8820:Scn11a UTSW 9 119,645,586 (GRCm39) missense probably benign 0.19
R8837:Scn11a UTSW 9 119,621,410 (GRCm39) missense probably damaging 1.00
R8913:Scn11a UTSW 9 119,623,094 (GRCm39) missense probably damaging 1.00
R8915:Scn11a UTSW 9 119,603,363 (GRCm39) nonsense probably null
R8975:Scn11a UTSW 9 119,587,565 (GRCm39) missense probably damaging 1.00
R9156:Scn11a UTSW 9 119,588,989 (GRCm39) missense possibly damaging 0.75
R9222:Scn11a UTSW 9 119,611,013 (GRCm39) missense probably damaging 0.98
R9355:Scn11a UTSW 9 119,584,160 (GRCm39) missense probably damaging 1.00
R9486:Scn11a UTSW 9 119,624,774 (GRCm39) missense possibly damaging 0.86
R9712:Scn11a UTSW 9 119,619,076 (GRCm39) nonsense probably null
R9766:Scn11a UTSW 9 119,584,181 (GRCm39) missense probably damaging 1.00
Z1088:Scn11a UTSW 9 119,584,308 (GRCm39) missense probably damaging 1.00
Z1177:Scn11a UTSW 9 119,648,886 (GRCm39) missense probably damaging 1.00
Z1177:Scn11a UTSW 9 119,584,064 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ATCTCAAAGTCGTCTTCGCCCAGG -3'
(R):5'- TTGGAGAACAGCAACGTCTTCCC -3'

Sequencing Primer
(F):5'- GCTGTGTTGAAGTTCTCTAGAATCAC -3'
(R):5'- CGCCCACACTCTTCAGG -3'
Posted On 2014-05-23