Incidental Mutation 'R3157:Kcns1'
ID 263530
Institutional Source Beutler Lab
Gene Symbol Kcns1
Ensembl Gene ENSMUSG00000040164
Gene Name K+ voltage-gated channel, subfamily S, 1
Synonyms Kv9.1
MMRRC Submission 040608-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R3157 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 164005539-164013033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 164006865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 366 (A366V)
Ref Sequence ENSEMBL: ENSMUSP00000038901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045196]
AlphaFold O35173
Predicted Effect probably damaging
Transcript: ENSMUST00000045196
AA Change: A366V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038901
Gene: ENSMUSG00000040164
AA Change: A366V

DomainStartEndE-ValueType
BTB 19 128 7.07e-7 SMART
low complexity region 160 175 N/A INTRINSIC
Pfam:Ion_trans 188 439 2e-44 PFAM
Pfam:Ion_trans_2 349 433 5e-13 PFAM
low complexity region 455 468 N/A INTRINSIC
Meta Mutation Damage Score 0.0878 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A T 13: 8,747,669 (GRCm39) K408N probably benign Het
Aoc2 A T 11: 101,220,102 (GRCm39) N696I probably damaging Het
Ap1g2 A T 14: 55,336,731 (GRCm39) I747N probably damaging Het
Arhgap27 T A 11: 103,224,663 (GRCm39) probably null Het
Bmp1 G T 14: 70,729,547 (GRCm39) N541K possibly damaging Het
Cacna1c T A 6: 118,728,485 (GRCm39) T320S probably benign Het
Ccr4 G T 9: 114,321,350 (GRCm39) N238K probably benign Het
Cd300e A C 11: 114,952,849 (GRCm39) M1R probably null Het
Cep95 A G 11: 106,700,013 (GRCm39) probably benign Het
Cfap54 T C 10: 92,834,918 (GRCm39) I1096V probably benign Het
D630003M21Rik A C 2: 158,037,392 (GRCm39) probably benign Het
Dmpk A G 7: 18,826,944 (GRCm39) T579A probably benign Het
Dock8 T C 19: 25,127,195 (GRCm39) Y1058H probably benign Het
Dscam T C 16: 96,479,710 (GRCm39) T1146A probably benign Het
Fnip2 T C 3: 79,474,901 (GRCm39) T4A probably damaging Het
Galnt12 A G 4: 47,104,264 (GRCm39) D174G probably damaging Het
Gxylt1 A G 15: 93,142,913 (GRCm39) I384T probably benign Het
Hmcn2 A G 2: 31,290,267 (GRCm39) N2367D probably damaging Het
Hydin A G 8: 110,994,005 (GRCm39) K13R unknown Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kif5a A T 10: 127,081,310 (GRCm39) I208N probably damaging Het
Klrb1c G T 6: 128,761,702 (GRCm39) T134K possibly damaging Het
Med14 G A X: 12,550,330 (GRCm39) probably benign Het
Mgat4d T C 8: 84,081,450 (GRCm39) Y68H probably benign Het
Mmp11 C T 10: 75,762,948 (GRCm39) probably benign Het
Ncapg T A 5: 45,833,400 (GRCm39) D295E probably benign Het
Npas2 C T 1: 39,386,690 (GRCm39) T653M possibly damaging Het
Nps A G 7: 134,873,989 (GRCm39) D53G probably benign Het
Ociad1 A T 5: 73,467,688 (GRCm39) R155* probably null Het
Or5b101 G C 19: 13,005,411 (GRCm39) A94G probably benign Het
Pcdha2 A G 18: 37,073,145 (GRCm39) T259A probably damaging Het
Pced1a A G 2: 130,261,687 (GRCm39) M322T probably benign Het
Pcgf6 T C 19: 47,028,475 (GRCm39) probably benign Het
Pigg C T 5: 108,462,014 (GRCm39) T115I probably damaging Het
Plcd4 G A 1: 74,590,313 (GRCm39) probably null Het
Prss52 G T 14: 64,350,992 (GRCm39) W259L probably damaging Het
Rasal2 A G 1: 156,986,225 (GRCm39) probably benign Het
Rec8 A G 14: 55,862,763 (GRCm39) E574G probably damaging Het
Sectm1a A G 11: 120,959,603 (GRCm39) I175T probably benign Het
Slc16a8 T C 15: 79,136,375 (GRCm39) I276V probably damaging Het
Slc8a3 C A 12: 81,361,766 (GRCm39) R351L probably damaging Het
Slc9b1 G A 3: 135,077,606 (GRCm39) G100E probably damaging Het
Smu1 T A 4: 40,754,529 (GRCm39) R123S possibly damaging Het
Synpr C T 14: 13,493,614 (GRCm38) A64V possibly damaging Het
Tmem132a C T 19: 10,836,901 (GRCm39) W680* probably null Het
Tpt1 G A 14: 76,083,840 (GRCm39) probably benign Het
Trav18 A G 14: 54,069,152 (GRCm39) T65A probably benign Het
Ttll4 T C 1: 74,736,770 (GRCm39) L1165P possibly damaging Het
Other mutations in Kcns1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0013:Kcns1 UTSW 2 164,010,563 (GRCm39) missense probably benign 0.00
R0135:Kcns1 UTSW 2 164,006,875 (GRCm39) missense possibly damaging 0.90
R0241:Kcns1 UTSW 2 164,010,300 (GRCm39) missense probably damaging 1.00
R1966:Kcns1 UTSW 2 164,010,455 (GRCm39) missense probably damaging 1.00
R2877:Kcns1 UTSW 2 164,006,682 (GRCm39) missense probably damaging 1.00
R2878:Kcns1 UTSW 2 164,006,682 (GRCm39) missense probably damaging 1.00
R4013:Kcns1 UTSW 2 164,010,177 (GRCm39) missense probably damaging 1.00
R4451:Kcns1 UTSW 2 164,010,598 (GRCm39) missense possibly damaging 0.46
R4873:Kcns1 UTSW 2 164,010,021 (GRCm39) missense probably damaging 1.00
R4875:Kcns1 UTSW 2 164,010,021 (GRCm39) missense probably damaging 1.00
R5270:Kcns1 UTSW 2 164,010,249 (GRCm39) missense probably benign 0.37
R5493:Kcns1 UTSW 2 164,009,899 (GRCm39) missense probably benign 0.02
R5775:Kcns1 UTSW 2 164,006,686 (GRCm39) missense probably damaging 0.99
R6931:Kcns1 UTSW 2 164,006,758 (GRCm39) missense probably damaging 0.99
R7689:Kcns1 UTSW 2 164,010,241 (GRCm39) missense probably damaging 1.00
R8304:Kcns1 UTSW 2 164,010,022 (GRCm39) missense probably damaging 1.00
R9044:Kcns1 UTSW 2 164,009,996 (GRCm39) missense probably damaging 1.00
R9195:Kcns1 UTSW 2 164,009,778 (GRCm39) missense probably damaging 1.00
R9414:Kcns1 UTSW 2 164,010,378 (GRCm39) missense probably damaging 1.00
Z1176:Kcns1 UTSW 2 164,010,553 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AAGTCCTCAAACTCGCGCTG -3'
(R):5'- GGCTCCAGTTCTACCATTTGAC -3'

Sequencing Primer
(F):5'- TTCTGGCGCCGGTAGAAG -3'
(R):5'- AGTTCTACCATTTGACCTTGGAC -3'
Posted On 2015-02-05