Incidental Mutation 'R1571:Kcns3'
ID 186223
Institutional Source Beutler Lab
Gene Symbol Kcns3
Ensembl Gene ENSMUSG00000043673
Gene Name potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3
Synonyms D12Ertd137e
MMRRC Submission 039610-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R1571 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 11140738-11201186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 11141551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 383 (G383W)
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: G383W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060706
Gene: ENSMUSG00000043673
AA Change: G383W

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: G383W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129412
Gene: ENSMUSG00000043673
AA Change: G383W

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: G383W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610524H06Rik A G 5: 114,961,372 (GRCm39) probably null Het
Abcd3 T C 3: 121,586,491 (GRCm39) I70V possibly damaging Het
Acad10 T C 5: 121,759,411 (GRCm39) Y1024C probably damaging Het
Atp2b3 T G X: 72,588,712 (GRCm39) V701G probably damaging Het
Cbfa2t2 T A 2: 154,342,347 (GRCm39) M21K probably damaging Het
Cdc25a C T 9: 109,710,614 (GRCm39) T106I possibly damaging Het
Cdhr5 T C 7: 140,852,083 (GRCm39) T190A probably damaging Het
Chl1 A G 6: 103,685,445 (GRCm39) T829A probably benign Het
Clcn6 T C 4: 148,097,226 (GRCm39) T614A possibly damaging Het
Cntln A T 4: 84,865,823 (GRCm39) R160* probably null Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dock3 C A 9: 106,815,158 (GRCm39) M1236I possibly damaging Het
Eif4g3 T A 4: 137,847,719 (GRCm39) H213Q probably damaging Het
Eya1 T A 1: 14,279,141 (GRCm39) H372L probably damaging Het
Fam13b A G 18: 34,630,485 (GRCm39) V91A possibly damaging Het
Hat1 T A 2: 71,264,519 (GRCm39) I319K probably benign Het
Kcnf1 T C 12: 17,225,853 (GRCm39) N123D probably benign Het
Kprp A T 3: 92,732,689 (GRCm39) C120* probably null Het
Lama3 T A 18: 12,672,774 (GRCm39) C2456S probably damaging Het
Lrp1b A T 2: 41,366,658 (GRCm39) D539E probably damaging Het
Matn3 T C 12: 9,005,466 (GRCm39) L292S probably damaging Het
Mbd3l1 T A 9: 18,395,947 (GRCm39) I24N probably damaging Het
Med10 T C 13: 69,958,159 (GRCm39) L37P probably damaging Het
Mrc1 A T 2: 14,313,544 (GRCm39) H925L probably damaging Het
Myo15a T A 11: 60,409,290 (GRCm39) I3219N probably damaging Het
Nom1 C T 5: 29,647,633 (GRCm39) Q623* probably null Het
Nrm T A 17: 36,175,079 (GRCm39) W136R probably damaging Het
Or8h8 A C 2: 86,753,789 (GRCm39) V29G probably benign Het
Pde7b T C 10: 20,288,836 (GRCm39) N298S probably benign Het
Piezo2 C T 18: 63,277,990 (GRCm39) A305T possibly damaging Het
Pimreg T C 11: 71,936,042 (GRCm39) L175P possibly damaging Het
Pkhd1l1 A G 15: 44,390,237 (GRCm39) D1451G probably benign Het
Ptpro A G 6: 137,355,128 (GRCm39) S212G probably benign Het
Rhpn1 C T 15: 75,585,967 (GRCm39) R627C possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnase4 T G 14: 51,342,497 (GRCm39) F74V probably damaging Het
Sbno2 A G 10: 79,896,226 (GRCm39) probably null Het
Selp T C 1: 163,954,176 (GRCm39) Y159H probably damaging Het
Senp6 A G 9: 80,000,853 (GRCm39) T21A probably damaging Het
Slco1a7 A T 6: 141,700,135 (GRCm39) C132* probably null Het
Slco3a1 T C 7: 74,154,128 (GRCm39) D148G possibly damaging Het
Smtn G A 11: 3,480,102 (GRCm39) P373L probably benign Het
Snx20 A T 8: 89,356,597 (GRCm39) L73Q probably damaging Het
Sobp A G 10: 43,033,942 (GRCm39) V128A possibly damaging Het
Tcerg1 A G 18: 42,657,357 (GRCm39) T280A unknown Het
Tgfbrap1 A G 1: 43,088,973 (GRCm39) V810A probably benign Het
Thbs1 C A 2: 117,949,678 (GRCm39) D589E probably damaging Het
Tjp2 A G 19: 24,078,239 (GRCm39) Y885H probably damaging Het
Tmem109 A G 19: 10,849,993 (GRCm39) S100P probably damaging Het
Trim36 T C 18: 46,305,562 (GRCm39) K462E probably benign Het
Vmn1r226 A T 17: 20,908,538 (GRCm39) I257F probably damaging Het
Vmn2r92 A G 17: 18,372,352 (GRCm39) Y54C probably damaging Het
Wdcp T A 12: 4,901,924 (GRCm39) Y593* probably null Het
Wdr59 T C 8: 112,177,682 (GRCm39) S907G probably damaging 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
IGL02229:Kcns3 APN 12 11,142,093 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGACCACGATGCCAATGGAAGAC -3'
(R):5'- AGTTACCATGAGGTGGGGCTACTG -3'

Sequencing Primer
(F):5'- ACGTCCCTAATGTTAAAGTACGG -3'
(R):5'- GTGGGGCTACTGCTTCTC -3'
Posted On 2014-05-09