Incidental Mutation 'R4013:Kcns1'
ID 368254
Institutional Source Beutler Lab
Gene Symbol Kcns1
Ensembl Gene ENSMUSG00000040164
Gene Name K+ voltage-gated channel, subfamily S, 1
Synonyms Kv9.1
MMRRC Submission 040950-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R4013 (G1)
Quality Score 52
Status Validated
Chromosome 2
Chromosomal Location 164005539-164013033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164010177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 194 (V194A)
Ref Sequence ENSEMBL: ENSMUSP00000038901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045196]
AlphaFold O35173
Predicted Effect probably damaging
Transcript: ENSMUST00000045196
AA Change: V194A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038901
Gene: ENSMUSG00000040164
AA Change: V194A

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 0.0661 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.4%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,668,104 (GRCm39) Q168R probably benign Het
Adgrg3 A G 8: 95,761,727 (GRCm39) probably benign Het
Apold1 A G 6: 134,960,869 (GRCm39) I108V probably benign Het
Atp6v0a2 G A 5: 124,789,860 (GRCm39) V429M probably damaging Het
Cbln4 A T 2: 171,879,477 (GRCm39) M137K probably damaging Het
Cfap57 A G 4: 118,450,340 (GRCm39) V594A probably benign Het
Chd9 A G 8: 91,699,797 (GRCm39) E28G possibly damaging Het
Clip4 T A 17: 72,163,541 (GRCm39) C704* probably null Het
Col8a2 T A 4: 126,204,908 (GRCm39) probably benign Het
Cyp3a59 A G 5: 146,016,193 (GRCm39) T17A probably benign Het
Cyp4f14 G A 17: 33,135,853 (GRCm39) Q3* probably null Het
Cysltr2 A G 14: 73,267,005 (GRCm39) I235T probably damaging Het
Esp34 C A 17: 38,870,446 (GRCm39) C45* probably null Het
Gabrg2 T C 11: 41,862,707 (GRCm39) K126E possibly damaging Het
Gm4846 A C 1: 166,322,249 (GRCm39) probably null Het
Igsf21 T C 4: 139,764,780 (GRCm39) N165S possibly damaging Het
Kcnf1 A G 12: 17,225,994 (GRCm39) F76L probably benign Het
Kdm5a T A 6: 120,371,067 (GRCm39) Y504N probably damaging Het
Kdm5b A G 1: 134,555,067 (GRCm39) Y1325C possibly damaging Het
Kif1a T C 1: 93,004,014 (GRCm39) D156G probably damaging Het
Lrp1b A G 2: 40,692,996 (GRCm39) F3401L possibly damaging Het
Lrrc63 A G 14: 75,335,731 (GRCm39) Y460H probably damaging Het
Myo15b G T 11: 115,762,282 (GRCm39) E1201* probably null Het
Ndor1 A T 2: 25,140,162 (GRCm39) I84K probably damaging Het
Ndst4 T A 3: 125,476,819 (GRCm39) Y15N probably damaging Het
Or51af1 T C 7: 103,141,840 (GRCm39) T82A probably benign Het
Or5ar1 A G 2: 85,671,725 (GRCm39) S137P probably damaging Het
Pik3r6 T A 11: 68,424,347 (GRCm39) D317E possibly damaging Het
Ppp2r1a G A 17: 21,171,609 (GRCm39) R28H probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpn12 G A 5: 21,197,741 (GRCm39) P700L probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc39a13 T C 2: 90,895,247 (GRCm39) probably null Het
Smarca2 G A 19: 26,661,327 (GRCm39) probably null Het
Taok1 A T 11: 77,450,659 (GRCm39) L371H possibly damaging Het
Tas2r116 A G 6: 132,833,230 (GRCm39) H277R probably damaging Het
Treml4 G A 17: 48,571,837 (GRCm39) R80Q probably benign Het
Trim9 G A 12: 70,393,126 (GRCm39) H273Y probably damaging Het
Tyr A G 7: 87,087,148 (GRCm39) S455P probably benign Het
Vmn1r214 G A 13: 23,219,520 (GRCm39) C338Y probably benign Het
Vmn2r52 G A 7: 9,904,603 (GRCm39) T412I probably benign Het
Wdr70 A T 15: 8,108,698 (GRCm39) C149* probably null Het
Wdr93 T A 7: 79,418,159 (GRCm39) V294E 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
R3157:Kcns1 UTSW 2 164,006,865 (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'- GCGATGCAGAAGTACTCCAG -3'
(R):5'- TAGACGAGCTGTGCGTCTTC -3'

Sequencing Primer
(F):5'- AGAAGTACTCCAGGCGGC -3'
(R):5'- AGGCTGACTACTGGGGC -3'
Posted On 2016-01-11