Incidental Mutation 'IGL02229:Kcns3'
ID 285425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcns3
Ensembl Gene ENSMUSG00000043673
Gene Name potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3
Synonyms D12Ertd137e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # IGL02229
Quality Score
Status
Chromosome 12
Chromosomal Location 11140738-11201186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11142093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 202 (M202K)
Ref Sequence ENSEMBL: ENSMUSP00000152026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055673] [ENSMUST00000164495] [ENSMUST00000217974]
AlphaFold Q8BQZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000055673
AA Change: M202K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060706
Gene: ENSMUSG00000043673
AA Change: M202K

DomainStartEndE-ValueType
BTB 15 124 1.2e-12 SMART
low complexity region 144 162 N/A INTRINSIC
Pfam:Ion_trans 184 417 5.2e-47 PFAM
Pfam:Ion_trans_2 325 411 3.2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164495
AA Change: M202K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129412
Gene: ENSMUSG00000043673
AA Change: M202K

DomainStartEndE-ValueType
BTB 15 124 1.2e-12 SMART
low complexity region 144 162 N/A INTRINSIC
Pfam:Ion_trans 184 417 5.2e-47 PFAM
Pfam:Ion_trans_2 325 411 3.2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217974
AA Change: M202K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
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. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,055,696 (GRCm39) D144G probably damaging Het
Adgrg1 G T 8: 95,730,139 (GRCm39) D114Y probably damaging Het
Ago4 T A 4: 126,405,325 (GRCm39) N416I probably benign Het
Aoc1 C T 6: 48,882,843 (GRCm39) Q240* probably null Het
Atl1 G A 12: 69,972,799 (GRCm39) V40I probably benign Het
Cdh2 T C 18: 16,757,810 (GRCm39) I591V probably benign Het
Cic C A 7: 24,990,375 (GRCm39) Q1959K probably damaging Het
Cmya5 C T 13: 93,229,194 (GRCm39) E1965K possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 T C 1: 10,153,781 (GRCm39) S397P probably damaging Het
D130043K22Rik T C 13: 25,059,907 (GRCm39) Y593H probably damaging Het
Dck A G 5: 88,921,964 (GRCm39) Y142C probably damaging Het
Eea1 A T 10: 95,854,046 (GRCm39) E568V probably damaging Het
Gabra3 A G X: 71,544,683 (GRCm39) probably null Het
Gucy2f A G X: 140,962,984 (GRCm39) S342P probably benign Het
Hbb-bh1 T A 7: 103,492,032 (GRCm39) I61F possibly damaging Het
Hook1 T C 4: 95,889,488 (GRCm39) S235P possibly damaging Het
Hoxd12 G A 2: 74,506,278 (GRCm39) R230H probably damaging Het
Iglc2 C T 16: 19,017,483 (GRCm39) A41T probably benign Het
Il1r1 A G 1: 40,352,518 (GRCm39) K566E probably damaging Het
Krt7 C A 15: 101,325,497 (GRCm39) A442D probably benign Het
Ltk C T 2: 119,589,054 (GRCm39) R200H probably benign Het
Macf1 G T 4: 123,403,619 (GRCm39) D582E probably damaging Het
Mbnl3 A T X: 50,228,218 (GRCm39) Y69N probably damaging Het
Mpp1 T C X: 74,165,034 (GRCm39) probably benign Het
Myo18b A G 5: 113,025,976 (GRCm39) S25P unknown Het
Nsd3 A G 8: 26,200,775 (GRCm39) N1289S probably damaging Het
Or8d1 T A 9: 38,766,712 (GRCm39) M118K possibly damaging Het
Pacs2 A G 12: 113,020,420 (GRCm39) probably benign Het
Rab3gap2 A G 1: 184,991,580 (GRCm39) K689E possibly damaging Het
Sva T A 6: 42,019,156 (GRCm39) C109S probably damaging Het
Taf3 T C 2: 9,957,645 (GRCm39) N174S probably damaging Het
Tbc1d5 A T 17: 51,159,628 (GRCm39) M393K probably damaging Het
Tmem242 A T 17: 5,461,682 (GRCm39) S129T probably benign Het
Ttn A T 2: 76,701,513 (GRCm39) probably benign Het
Other mutations in Kcns3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Kcns3 APN 12 11,142,427 (GRCm39) missense probably benign 0.40
IGL01089:Kcns3 APN 12 11,141,572 (GRCm39) missense possibly damaging 0.92
IGL01448:Kcns3 APN 12 11,141,644 (GRCm39) missense possibly damaging 0.91
IGL02084:Kcns3 APN 12 11,142,195 (GRCm39) missense probably damaging 0.96
IGL02730:Kcns3 APN 12 11,142,076 (GRCm39) missense probably benign
IGL02820:Kcns3 APN 12 11,141,872 (GRCm39) missense probably benign 0.01
IGL03390:Kcns3 APN 12 11,141,233 (GRCm39) missense probably benign
PIT4696001:Kcns3 UTSW 12 11,142,749 (GRCm39) start gained probably benign
R0583:Kcns3 UTSW 12 11,141,479 (GRCm39) missense probably damaging 1.00
R0629:Kcns3 UTSW 12 11,142,559 (GRCm39) missense probably damaging 1.00
R1549:Kcns3 UTSW 12 11,142,084 (GRCm39) missense probably damaging 1.00
R1571:Kcns3 UTSW 12 11,141,551 (GRCm39) missense probably damaging 1.00
R1755:Kcns3 UTSW 12 11,141,445 (GRCm39) missense probably benign 0.09
R2507:Kcns3 UTSW 12 11,142,087 (GRCm39) missense possibly damaging 0.67
R4348:Kcns3 UTSW 12 11,141,382 (GRCm39) missense possibly damaging 0.85
R4667:Kcns3 UTSW 12 11,141,784 (GRCm39) missense probably damaging 1.00
R4750:Kcns3 UTSW 12 11,141,655 (GRCm39) missense probably damaging 1.00
R5704:Kcns3 UTSW 12 11,142,328 (GRCm39) missense probably benign 0.05
R5770:Kcns3 UTSW 12 11,142,250 (GRCm39) missense probably benign 0.15
R6882:Kcns3 UTSW 12 11,142,049 (GRCm39) missense probably benign 0.00
R7014:Kcns3 UTSW 12 11,141,688 (GRCm39) missense probably damaging 1.00
R7935:Kcns3 UTSW 12 11,141,718 (GRCm39) missense probably damaging 1.00
R8025:Kcns3 UTSW 12 11,141,846 (GRCm39) missense probably damaging 1.00
R8161:Kcns3 UTSW 12 11,169,764 (GRCm39) start gained probably benign
R8210:Kcns3 UTSW 12 11,142,253 (GRCm39) missense probably damaging 0.97
R8403:Kcns3 UTSW 12 11,141,654 (GRCm39) missense probably benign 0.09
R8726:Kcns3 UTSW 12 11,141,692 (GRCm39) missense probably damaging 1.00
R9175:Kcns3 UTSW 12 11,169,801 (GRCm39) start gained probably benign
R9287:Kcns3 UTSW 12 11,141,601 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16