Incidental Mutation 'R5493:Kcns1'
ID432155
Institutional Source Beutler Lab
Gene Symbol Kcns1
Ensembl Gene ENSMUSG00000040164
Gene NameK+ voltage-gated channel, subfamily S, 1
SynonymsKv9.1
MMRRC Submission 043054-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #R5493 (G1)
Quality Score177
Status Validated
Chromosome2
Chromosomal Location164163619-164171113 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 164167979 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 287 (L287F)
Ref Sequence ENSEMBL: ENSMUSP00000038901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045196]
Predicted Effect probably benign
Transcript: ENSMUST00000045196
AA Change: L287F

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000038901
Gene: ENSMUSG00000040164
AA Change: L287F

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 0.044 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency 99% (80/81)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik A G 16: 21,653,243 S236P possibly damaging Het
A830018L16Rik C T 1: 11,545,207 R135C probably damaging Het
Agpat3 A G 10: 78,284,235 V155A possibly damaging Het
Aldh18a1 C T 19: 40,551,290 R747Q probably damaging Het
Aloxe3 A T 11: 69,128,617 R119* probably null Het
Asap1 A G 15: 64,130,151 V460A possibly damaging Het
Bicral C A 17: 46,801,694 R860L possibly damaging Het
Cd180 T A 13: 102,706,141 I565N probably benign Het
Cdk13 T C 13: 17,803,562 probably benign Het
Cdkn2d T C 9: 21,289,007 D156G probably benign Het
Clrn1 A G 3: 58,846,416 S175P probably damaging Het
Coro7 A G 16: 4,632,487 L535S probably damaging Het
Cse1l A G 2: 166,941,190 probably benign Het
Cyp2a12 T C 7: 27,029,125 L7P unknown Het
D130043K22Rik A G 13: 24,863,603 Y377C probably damaging Het
Dctn1 G T 6: 83,182,564 R8L possibly damaging Het
Duox2 T C 2: 122,281,496 Q1341R probably damaging Het
Eif2b3 A G 4: 117,086,722 D447G possibly damaging Het
Fbxw25 T C 9: 109,652,916 Y234C probably benign Het
Gcnt2 A G 13: 40,953,600 N315S possibly damaging Het
Gm20730 A T 6: 43,081,812 V22E possibly damaging Het
Gm4847 T A 1: 166,630,321 I488F probably damaging Het
Gm8994 C G 6: 136,329,557 R339G probably damaging Het
Gmds A T 13: 31,940,505 M290K probably benign Het
Gtf3c1 T C 7: 125,670,544 N699S probably damaging Het
Hk3 A G 13: 55,011,171 V479A probably damaging Het
Ifnlr1 G A 4: 135,705,566 V438M probably benign Het
Il12rb1 C A 8: 70,809,839 P26T probably benign Het
Il4i1 G T 7: 44,840,053 R414L possibly damaging Het
Ipo4 T C 14: 55,630,870 N490S probably benign Het
Kcnmb2 A G 3: 32,198,142 E164G probably damaging Het
Kdm1a ACC AC 4: 136,557,421 probably null Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Knl1 T A 2: 119,068,730 I304K probably damaging Het
Ksr2 G T 5: 117,708,110 V681F probably damaging Het
Lypd2 T C 15: 74,734,278 T4A probably benign Het
Man1a A G 10: 54,074,480 V182A probably benign Het
Olfr1364 A T 13: 21,573,872 C195S probably damaging Het
Olfr504 T C 7: 108,565,567 D76G probably benign Het
Olfr533 A T 7: 140,466,807 D202V probably damaging Het
Olfr561 A T 7: 102,775,108 R195W probably benign Het
Olfr70 A G 4: 43,696,225 F316S possibly damaging Het
Pcdha2 C A 18: 36,939,509 F64L probably damaging Het
Pgap3 G C 11: 98,390,714 F168L possibly damaging Het
Pip5k1b T C 19: 24,439,075 N16S probably benign Het
Ppip5k1 T A 2: 121,336,772 H41L probably damaging Het
Ppp1r9a A G 6: 5,159,702 R1080G probably damaging Het
Qrich2 A C 11: 116,445,948 probably null Het
Rbl2 C T 8: 91,115,819 P1034L probably damaging Het
Rbpjl GCC GC 2: 164,414,410 probably null Het
Rin2 A G 2: 145,860,709 S442G probably damaging Het
Rtca C T 3: 116,499,631 R71Q probably benign Het
Serpind1 A T 16: 17,340,038 N366I probably damaging Het
Shox2 C G 3: 66,981,463 G32R probably damaging Het
Sp3 T A 2: 72,938,122 N766Y probably damaging Het
Spag7 T A 11: 70,669,233 S17C probably null Het
Stk25 A T 1: 93,635,309 F7I probably benign Het
Tbx15 G A 3: 99,352,564 G584S probably benign Het
Tenm2 T C 11: 36,864,676 D165G probably benign Het
Tox2 C A 2: 163,204,729 S42* probably null Het
Vmn1r39 A G 6: 66,804,770 V188A probably damaging Het
Zbtb5 A T 4: 44,993,941 M481K probably benign Het
Zfp26 T C 9: 20,444,319 T56A possibly damaging Het
Zfp459 C A 13: 67,408,379 C195F probably damaging Het
Zfp703 C T 8: 26,979,205 P299L probably damaging Het
Zfp764 A G 7: 127,404,933 I342T probably benign Het
Zfp942 T C 17: 21,933,004 N7D probably null Het
Other mutations in Kcns1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0013:Kcns1 UTSW 2 164168643 missense probably benign 0.00
R0135:Kcns1 UTSW 2 164164955 missense possibly damaging 0.90
R0241:Kcns1 UTSW 2 164168380 missense probably damaging 1.00
R1966:Kcns1 UTSW 2 164168535 missense probably damaging 1.00
R2877:Kcns1 UTSW 2 164164762 missense probably damaging 1.00
R2878:Kcns1 UTSW 2 164164762 missense probably damaging 1.00
R3157:Kcns1 UTSW 2 164164945 missense probably damaging 1.00
R4013:Kcns1 UTSW 2 164168257 missense probably damaging 1.00
R4451:Kcns1 UTSW 2 164168678 missense possibly damaging 0.46
R4873:Kcns1 UTSW 2 164168101 missense probably damaging 1.00
R4875:Kcns1 UTSW 2 164168101 missense probably damaging 1.00
R5270:Kcns1 UTSW 2 164168329 missense probably benign 0.37
R5775:Kcns1 UTSW 2 164164766 missense probably damaging 0.99
R6931:Kcns1 UTSW 2 164164838 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGCCAGACAATAAATGCAGC -3'
(R):5'- TTCAGCTGCGTATCCATCGG -3'

Sequencing Primer
(F):5'- GCCATTAACCCACCGTGTC -3'
(R):5'- TGTGCATCCACAGCCTG -3'
Posted On2016-10-05