Incidental Mutation 'IGL02527:Kcnk18'
ID297132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnk18
Ensembl Gene ENSMUSG00000040901
Gene Namepotassium channel, subfamily K, member 18
SynonymsLOC332396, Tresk, Tresk-2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02527
Quality Score
Status
Chromosome19
Chromosomal Location59219648-59237370 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59235275 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 284 (V284A)
Ref Sequence ENSEMBL: ENSMUSP00000065713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065204]
Predicted Effect probably damaging
Transcript: ENSMUST00000065204
AA Change: V284A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000065713
Gene: ENSMUSG00000040901
AA Change: V284A

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
transmembrane domain 31 53 N/A INTRINSIC
Pfam:Ion_trans_2 99 168 1e-21 PFAM
Pfam:Ion_trans_2 298 376 1.4e-14 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit altered potassium conductance and neuron electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,661,433 V868A probably damaging Het
Adam25 T A 8: 40,753,748 I17K possibly damaging Het
Arap2 A T 5: 62,749,307 M123K probably benign Het
Asic3 A G 5: 24,416,277 M332V probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
BC017158 T A 7: 128,276,231 T317S possibly damaging Het
Cand1 A T 10: 119,206,807 M1126K probably damaging Het
Capn3 A G 2: 120,504,485 T818A probably damaging Het
Cda G A 4: 138,343,521 Q104* probably null Het
Cpeb1 T C 7: 81,359,887 D234G probably damaging Het
Cpq A G 15: 33,302,363 Y220C probably damaging Het
Diaph3 T C 14: 86,810,359 K1026R possibly damaging Het
Dpep1 T C 8: 123,198,748 F47L probably damaging Het
Dppa4 G T 16: 48,289,093 R66L possibly damaging Het
Elac1 C A 18: 73,747,233 E31* probably null Het
Fggy A G 4: 95,697,069 K62E probably damaging Het
Ficd T A 5: 113,736,966 M32K probably benign Het
Foxd4 A G 19: 24,899,814 S341P probably benign Het
Gm4788 T C 1: 139,753,045 N245S probably damaging Het
Gnb4 G T 3: 32,589,866 T181K probably benign Het
Grin2b T A 6: 135,923,391 Y164F probably damaging Het
Hmmr A G 11: 40,708,105 L564P probably damaging Het
Hsd17b4 G A 18: 50,160,164 V257I probably benign Het
Itga10 C A 3: 96,655,624 probably benign Het
Klf11 T A 12: 24,655,323 S259T probably benign Het
Kmt2d C T 15: 98,841,747 probably benign Het
Manea A G 4: 26,336,619 probably null Het
Mybl1 T C 1: 9,690,148 H75R probably damaging Het
Neb G A 2: 52,263,947 T2384M probably damaging Het
Neb A G 2: 52,149,213 I6938T probably benign Het
Ntrk3 T C 7: 78,451,949 D412G probably benign Het
Olah T C 2: 3,342,942 E211G probably damaging Het
Olfr1123 T C 2: 87,418,837 L261S probably damaging Het
Paxbp1 A T 16: 91,037,273 N208K possibly damaging Het
Prrc1 T A 18: 57,389,347 M417K probably benign Het
Ptprq G A 10: 107,686,563 T543M probably benign Het
Rasal1 T C 5: 120,666,404 V447A probably damaging Het
Rbl1 T C 2: 157,194,048 E287G probably benign Het
Tec A G 5: 72,779,415 probably null Het
Tex26 A G 5: 149,456,942 D61G probably damaging Het
Tgfb1i1 G A 7: 128,252,562 probably benign Het
Tmem132c T C 5: 127,359,611 Y55H possibly damaging Het
Tmem63a T A 1: 180,952,974 probably null Het
Umod C T 7: 119,469,467 G452D probably damaging Het
Vcan G A 13: 89,690,657 T2256I possibly damaging Het
Vmn1r31 A T 6: 58,472,793 I29K probably benign Het
Vmn2r117 A G 17: 23,477,225 Y403H possibly damaging Het
Vmn2r124 A T 17: 18,066,502 probably null Het
Vmn2r65 T A 7: 84,946,516 K320M possibly damaging Het
Other mutations in Kcnk18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Kcnk18 APN 19 59235070 missense probably benign 0.23
IGL01460:Kcnk18 APN 19 59219857 missense probably damaging 1.00
IGL02054:Kcnk18 APN 19 59235613 utr 3 prime probably benign
IGL02304:Kcnk18 APN 19 59234863 missense probably damaging 1.00
IGL02499:Kcnk18 APN 19 59235182 missense probably benign 0.10
IGL03033:Kcnk18 APN 19 59235184 missense probably benign 0.21
cedar UTSW 19 59235341 missense probably damaging 1.00
R1552:Kcnk18 UTSW 19 59235458 missense probably damaging 0.99
R1775:Kcnk18 UTSW 19 59235341 missense probably damaging 1.00
R1913:Kcnk18 UTSW 19 59235058 missense possibly damaging 0.54
R2278:Kcnk18 UTSW 19 59235494 missense probably damaging 1.00
R3036:Kcnk18 UTSW 19 59235062 missense probably benign 0.38
R4478:Kcnk18 UTSW 19 59235244 missense probably damaging 1.00
R4494:Kcnk18 UTSW 19 59234831 missense probably damaging 1.00
R4827:Kcnk18 UTSW 19 59219930 missense probably damaging 0.97
R5393:Kcnk18 UTSW 19 59219839 missense probably damaging 1.00
R6077:Kcnk18 UTSW 19 59235314 missense probably damaging 0.98
R6145:Kcnk18 UTSW 19 59235607 makesense probably null
R6881:Kcnk18 UTSW 19 59219958 missense probably benign
Z1176:Kcnk18 UTSW 19 59234959 missense probably benign 0.39
Z1177:Kcnk18 UTSW 19 59225479 frame shift probably null
Posted On2015-04-16