Incidental Mutation 'R6892:Scn11a'
ID 538113
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 044986-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R6892 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 119753759-119825456 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119806969 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 304 (D304V)
Ref Sequence ENSEMBL: ENSMUSP00000149420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070617] [ENSMUST00000215718]
AlphaFold Q9R053
Predicted Effect possibly damaging
Transcript: ENSMUST00000070617
AA Change: D304V

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: D304V

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 possibly damaging
Transcript: ENSMUST00000215718
AA Change: D304V

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
Validation Efficiency 96% (54/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1520401A03Rik A G 17: 23,712,354 (GRCm38) L193P probably damaging Het
4930442H23Rik C A 10: 81,183,144 (GRCm38) probably benign Het
4933421I07Rik T C 7: 42,446,407 (GRCm38) Q139R probably benign Het
A930002H24Rik C T 17: 63,863,764 (GRCm38) V10M unknown Het
Acvr2a T A 2: 48,897,075 (GRCm38) L394Q probably damaging Het
Ano6 T C 15: 95,967,624 (GRCm38) Y830H probably damaging Het
Atp8b4 T A 2: 126,343,002 (GRCm38) I914F possibly damaging Het
Cab39 A G 1: 85,848,377 (GRCm38) D265G probably damaging Het
Capn5 A T 7: 98,135,941 (GRCm38) W109R probably damaging Het
Cdk18 G T 1: 132,122,110 (GRCm38) T44K probably benign Het
Cdt1 T A 8: 122,570,212 (GRCm38) N248K probably damaging Het
Cpa4 G T 6: 30,583,629 (GRCm38) R248L probably benign Het
Cpt1a G A 19: 3,371,660 (GRCm38) V481M probably benign Het
Cyp3a11 G A 5: 145,860,448 (GRCm38) L374F probably damaging Het
Dcdc2a A G 13: 25,056,460 (GRCm38) N64D probably damaging Het
Dmxl1 G A 18: 49,920,902 (GRCm38) R2525Q probably damaging Het
Dscaml1 G A 9: 45,683,830 (GRCm38) V744M probably damaging Het
Dync1h1 G A 12: 110,638,901 (GRCm38) E2391K probably benign Het
Ezh1 A T 11: 101,199,361 (GRCm38) Y522* probably null Het
Fzd3 G C 14: 65,209,881 (GRCm38) A533G possibly damaging Het
Gm14403 T G 2: 177,509,247 (GRCm38) C329G probably damaging Het
Gm17067 A C 7: 42,710,675 (GRCm38) probably null Het
Gm38119 A G 3: 92,738,222 (GRCm38) C22R unknown Het
Gtf3c3 A G 1: 54,415,941 (GRCm38) S588P probably benign Het
Ift140 A G 17: 25,020,546 (GRCm38) E59G possibly damaging Het
Ints1 A T 5: 139,767,828 (GRCm38) M683K probably damaging Het
Iws1 A G 18: 32,086,274 (GRCm38) M470V probably damaging Het
Mptx1 A G 1: 174,332,265 (GRCm38) R46G probably benign Het
Nhsl1 C T 10: 18,524,343 (GRCm38) T439I probably damaging Het
Olfr517 A G 7: 108,868,515 (GRCm38) L213P probably damaging Het
Peg3 C T 7: 6,708,899 (GRCm38) S1108N possibly damaging Het
Pgm2 A G 4: 99,929,708 (GRCm38) E48G probably benign Het
Pkhd1 G A 1: 20,523,515 (GRCm38) T1458I probably damaging Het
Polr1a A T 6: 71,964,712 (GRCm38) D1068V possibly damaging Het
Ptprq T C 10: 107,576,004 (GRCm38) T1834A probably benign Het
Rapgef1 T C 2: 29,699,840 (GRCm38) probably null Het
Rgl1 A T 1: 152,539,940 (GRCm38) D409E probably benign Het
Rgsl1 G T 1: 153,821,499 (GRCm38) Y558* probably null Het
Rock1 C T 18: 10,122,612 (GRCm38) R403H probably benign Het
Sdk1 A T 5: 142,046,298 (GRCm38) I1043F probably benign Het
Sgms2 A G 3: 131,342,154 (GRCm38) Y24H probably benign Het
Sppl2a A G 2: 126,913,575 (GRCm38) I372T probably damaging Het
Sptbn1 A G 11: 30,142,187 (GRCm38) M526T probably benign Het
Stxbp5l A T 16: 37,188,629 (GRCm38) S683T possibly damaging Het
Syk A T 13: 52,632,898 (GRCm38) R332S probably benign Het
Syne2 T A 12: 75,962,528 (GRCm38) V2401E probably damaging Het
Tarm1 T C 7: 3,497,490 (GRCm38) Y87C probably damaging Het
Tbc1d22b A G 17: 29,595,890 (GRCm38) K378E possibly damaging Het
Tcte1 A G 17: 45,533,157 (GRCm38) T20A probably benign Het
Tor1aip2 A T 1: 156,065,181 (GRCm38) Y411F possibly damaging Het
Trim43c T A 9: 88,844,924 (GRCm38) M267K probably benign Het
Ubr2 T G 17: 46,934,108 (GRCm38) Y1664S probably damaging Het
Uhrf1bp1l G A 10: 89,805,123 (GRCm38) V719I probably benign Het
Vmn1r41 C A 6: 89,747,181 (GRCm38) Q235K possibly damaging Het
Wdr17 T C 8: 54,673,596 (GRCm38) T401A probably damaging Het
Zfp454 A G 11: 50,873,198 (GRCm38) L469P probably damaging Het
Other mutations in Scn11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Scn11a APN 9 119,770,506 (GRCm38) missense probably benign 0.00
IGL00272:Scn11a APN 9 119,816,603 (GRCm38) missense probably damaging 0.98
IGL00332:Scn11a APN 9 119,769,916 (GRCm38) missense probably damaging 1.00
IGL00533:Scn11a APN 9 119,774,381 (GRCm38) missense probably damaging 1.00
IGL00972:Scn11a APN 9 119,793,938 (GRCm38) missense probably benign 0.44
IGL01338:Scn11a APN 9 119,784,161 (GRCm38) splice site probably benign
IGL01534:Scn11a APN 9 119,780,822 (GRCm38) missense probably benign 0.27
IGL01838:Scn11a APN 9 119,758,583 (GRCm38) missense probably damaging 1.00
IGL01991:Scn11a APN 9 119,819,904 (GRCm38) missense probably damaging 0.97
IGL02057:Scn11a APN 9 119,765,470 (GRCm38) missense probably damaging 1.00
IGL02290:Scn11a APN 9 119,774,442 (GRCm38) missense probably damaging 0.97
IGL02454:Scn11a APN 9 119,758,544 (GRCm38) missense probably benign 0.00
IGL02517:Scn11a APN 9 119,792,398 (GRCm38) missense probably damaging 1.00
IGL02567:Scn11a APN 9 119,804,489 (GRCm38) missense probably damaging 0.99
IGL02587:Scn11a APN 9 119,805,684 (GRCm38) missense probably damaging 1.00
IGL03069:Scn11a APN 9 119,789,963 (GRCm38) missense probably benign 0.16
IGL03171:Scn11a APN 9 119,819,847 (GRCm38) missense probably benign 0.00
Kleinie UTSW 9 119,803,503 (GRCm38) missense probably benign 0.16
H8441:Scn11a UTSW 9 119,807,910 (GRCm38) missense probably damaging 1.00
PIT4449001:Scn11a UTSW 9 119,769,948 (GRCm38) missense probably damaging 1.00
R0304:Scn11a UTSW 9 119,819,862 (GRCm38) missense probably benign 0.00
R0519:Scn11a UTSW 9 119,790,119 (GRCm38) missense probably damaging 1.00
R0658:Scn11a UTSW 9 119,811,160 (GRCm38) missense probably benign 0.41
R0828:Scn11a UTSW 9 119,755,007 (GRCm38) missense probably benign 0.00
R0893:Scn11a UTSW 9 119,803,330 (GRCm38) splice site probably null
R0932:Scn11a UTSW 9 119,807,810 (GRCm38) missense probably damaging 1.00
R1061:Scn11a UTSW 9 119,795,663 (GRCm38) missense probably damaging 0.98
R1161:Scn11a UTSW 9 119,755,057 (GRCm38) nonsense probably null
R1162:Scn11a UTSW 9 119,805,644 (GRCm38) splice site probably benign
R1310:Scn11a UTSW 9 119,755,057 (GRCm38) nonsense probably null
R1589:Scn11a UTSW 9 119,769,807 (GRCm38) missense probably damaging 1.00
R1681:Scn11a UTSW 9 119,804,412 (GRCm38) missense possibly damaging 0.46
R1781:Scn11a UTSW 9 119,755,082 (GRCm38) missense probably damaging 1.00
R1812:Scn11a UTSW 9 119,780,865 (GRCm38) nonsense probably null
R1901:Scn11a UTSW 9 119,779,036 (GRCm38) nonsense probably null
R1978:Scn11a UTSW 9 119,780,795 (GRCm38) nonsense probably null
R1985:Scn11a UTSW 9 119,754,678 (GRCm38) missense probably benign 0.19
R2022:Scn11a UTSW 9 119,811,208 (GRCm38) missense possibly damaging 0.88
R2072:Scn11a UTSW 9 119,811,208 (GRCm38) missense possibly damaging 0.88
R2098:Scn11a UTSW 9 119,792,494 (GRCm38) missense possibly damaging 0.67
R2163:Scn11a UTSW 9 119,755,025 (GRCm38) missense probably damaging 1.00
R2250:Scn11a UTSW 9 119,758,602 (GRCm38) missense probably benign 0.01
R2373:Scn11a UTSW 9 119,813,186 (GRCm38) missense probably benign 0.43
R2508:Scn11a UTSW 9 119,765,529 (GRCm38) missense probably damaging 1.00
R3757:Scn11a UTSW 9 119,803,503 (GRCm38) missense probably benign 0.16
R3767:Scn11a UTSW 9 119,784,049 (GRCm38) missense probably damaging 1.00
R3770:Scn11a UTSW 9 119,784,049 (GRCm38) missense probably damaging 1.00
R4089:Scn11a UTSW 9 119,795,653 (GRCm38) splice site probably null
R4092:Scn11a UTSW 9 119,789,970 (GRCm38) missense probably benign 0.03
R4247:Scn11a UTSW 9 119,807,886 (GRCm38) missense probably damaging 1.00
R4279:Scn11a UTSW 9 119,754,362 (GRCm38) missense probably benign 0.25
R4299:Scn11a UTSW 9 119,765,506 (GRCm38) missense probably damaging 0.97
R4403:Scn11a UTSW 9 119,795,667 (GRCm38) missense probably damaging 1.00
R4468:Scn11a UTSW 9 119,754,987 (GRCm38) missense probably damaging 1.00
R4542:Scn11a UTSW 9 119,755,134 (GRCm38) missense probably damaging 1.00
R4644:Scn11a UTSW 9 119,815,203 (GRCm38) splice site probably null
R4739:Scn11a UTSW 9 119,754,561 (GRCm38) missense probably benign 0.39
R4809:Scn11a UTSW 9 119,819,870 (GRCm38) missense probably benign 0.00
R4954:Scn11a UTSW 9 119,758,659 (GRCm38) missense possibly damaging 0.84
R5012:Scn11a UTSW 9 119,780,878 (GRCm38) missense probably benign 0.31
R5044:Scn11a UTSW 9 119,819,831 (GRCm38) missense probably damaging 0.98
R5222:Scn11a UTSW 9 119,815,202 (GRCm38) splice site probably null
R5224:Scn11a UTSW 9 119,754,792 (GRCm38) missense probably damaging 1.00
R5400:Scn11a UTSW 9 119,769,908 (GRCm38) missense probably damaging 0.97
R5555:Scn11a UTSW 9 119,755,238 (GRCm38) missense probably damaging 1.00
R5711:Scn11a UTSW 9 119,789,924 (GRCm38) missense probably damaging 1.00
R5950:Scn11a UTSW 9 119,811,124 (GRCm38) missense probably damaging 1.00
R5984:Scn11a UTSW 9 119,784,016 (GRCm38) missense probably benign
R6057:Scn11a UTSW 9 119,765,448 (GRCm38) missense probably damaging 1.00
R6104:Scn11a UTSW 9 119,795,678 (GRCm38) missense probably damaging 1.00
R6180:Scn11a UTSW 9 119,754,867 (GRCm38) missense probably benign 0.00
R6908:Scn11a UTSW 9 119,792,426 (GRCm38) missense probably damaging 1.00
R6949:Scn11a UTSW 9 119,765,514 (GRCm38) missense probably benign 0.04
R7112:Scn11a UTSW 9 119,754,809 (GRCm38) missense probably damaging 1.00
R7232:Scn11a UTSW 9 119,759,916 (GRCm38) missense probably damaging 1.00
R7261:Scn11a UTSW 9 119,819,833 (GRCm38) missense probably damaging 0.99
R7265:Scn11a UTSW 9 119,815,265 (GRCm38) missense probably damaging 1.00
R7302:Scn11a UTSW 9 119,806,951 (GRCm38) missense probably benign 0.03
R7391:Scn11a UTSW 9 119,795,717 (GRCm38) missense probably damaging 1.00
R7441:Scn11a UTSW 9 119,758,626 (GRCm38) missense probably benign 0.01
R7479:Scn11a UTSW 9 119,759,875 (GRCm38) missense probably benign 0.38
R7608:Scn11a UTSW 9 119,815,313 (GRCm38) splice site probably null
R7768:Scn11a UTSW 9 119,815,272 (GRCm38) missense probably benign 0.13
R7785:Scn11a UTSW 9 119,816,556 (GRCm38) missense probably benign 0.00
R7794:Scn11a UTSW 9 119,765,514 (GRCm38) missense probably damaging 0.99
R7818:Scn11a UTSW 9 119,784,111 (GRCm38) missense probably damaging 0.97
R7884:Scn11a UTSW 9 119,804,551 (GRCm38) missense probably benign 0.01
R7988:Scn11a UTSW 9 119,765,437 (GRCm38) missense probably damaging 0.97
R8049:Scn11a UTSW 9 119,755,083 (GRCm38) missense probably damaging 1.00
R8127:Scn11a UTSW 9 119,804,512 (GRCm38) missense probably damaging 1.00
R8274:Scn11a UTSW 9 119,803,482 (GRCm38) missense probably benign
R8344:Scn11a UTSW 9 119,781,970 (GRCm38) missense probably benign 0.00
R8346:Scn11a UTSW 9 119,778,981 (GRCm38) missense probably damaging 1.00
R8511:Scn11a UTSW 9 119,789,915 (GRCm38) missense probably damaging 0.99
R8819:Scn11a UTSW 9 119,816,520 (GRCm38) missense probably benign 0.19
R8820:Scn11a UTSW 9 119,816,520 (GRCm38) missense probably benign 0.19
R8837:Scn11a UTSW 9 119,792,344 (GRCm38) missense probably damaging 1.00
R8913:Scn11a UTSW 9 119,794,028 (GRCm38) missense probably damaging 1.00
R8915:Scn11a UTSW 9 119,774,297 (GRCm38) nonsense probably null
R8975:Scn11a UTSW 9 119,758,499 (GRCm38) missense probably damaging 1.00
R9156:Scn11a UTSW 9 119,759,923 (GRCm38) missense possibly damaging 0.75
R9222:Scn11a UTSW 9 119,781,947 (GRCm38) missense probably damaging 0.98
R9355:Scn11a UTSW 9 119,755,094 (GRCm38) missense probably damaging 1.00
R9486:Scn11a UTSW 9 119,795,708 (GRCm38) missense possibly damaging 0.86
R9712:Scn11a UTSW 9 119,790,010 (GRCm38) nonsense probably null
R9766:Scn11a UTSW 9 119,755,115 (GRCm38) missense probably damaging 1.00
Z1088:Scn11a UTSW 9 119,755,242 (GRCm38) missense probably damaging 1.00
Z1177:Scn11a UTSW 9 119,819,820 (GRCm38) missense probably damaging 1.00
Z1177:Scn11a UTSW 9 119,754,998 (GRCm38) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ACTTTAAAAGCAAAAGTTAGGAGCC -3'
(R):5'- TGAGGCTCCATTCCTTGATGG -3'

Sequencing Primer
(F):5'- TGCATGCACATGGTACTCAG -3'
(R):5'- GATGCTCATGTTGATCACTTCAGAG -3'
Posted On 2018-11-06