Incidental Mutation 'IGL02304:Kcnk18'
ID287492
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 #IGL02304
Quality Score
Status
Chromosome19
Chromosomal Location59219648-59237370 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59234863 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 147 (Y147H)
Ref Sequence ENSEMBL: ENSMUSP00000065713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065204]
Predicted Effect probably damaging
Transcript: ENSMUST00000065204
AA Change: Y147H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065713
Gene: ENSMUSG00000040901
AA Change: Y147H

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik G T 18: 68,950,051 H31N unknown Het
Adamts8 A G 9: 30,956,656 N592S possibly damaging Het
Atp1a2 C A 1: 172,289,353 E232D probably benign Het
Cacnb3 A T 15: 98,642,382 D323V probably damaging Het
Cdh9 A T 15: 16,848,601 T456S probably benign Het
Cep162 A T 9: 87,227,147 probably benign Het
Clvs2 T C 10: 33,528,447 M258V probably benign Het
Col6a5 T C 9: 105,928,414 T1098A unknown Het
Foxs1 T C 2: 152,932,350 D261G probably benign Het
Gas2l2 T C 11: 83,424,238 probably benign Het
Gins4 A T 8: 23,232,609 M98K probably benign Het
Gm12355 C T 11: 98,625,538 R3H probably benign Het
Gm9637 A T 14: 19,402,545 noncoding transcript Het
Herc1 A G 9: 66,476,414 D3720G probably benign Het
Kcnh5 C T 12: 74,976,697 M532I probably benign Het
Kif21a A T 15: 90,965,535 F55Y probably damaging Het
Krt15 T A 11: 100,133,677 I278F possibly damaging Het
L3mbtl4 T A 17: 68,587,185 Y395* probably null Het
Mcm3ap T A 10: 76,484,738 N843K possibly damaging Het
Mpdz T C 4: 81,310,157 K1337E possibly damaging Het
Mpdz G A 4: 81,297,559 probably benign Het
Ms4a6d T C 19: 11,603,141 probably benign Het
Myo7a G T 7: 98,077,736 R922S possibly damaging Het
Nek1 G T 8: 61,012,167 G97C probably damaging Het
Obscn A G 11: 59,076,622 Y2963H probably damaging Het
Olfr1138 C T 2: 87,737,986 V113M probably benign Het
Olfr1294 T C 2: 111,537,401 N296S probably benign Het
Olfr731 T C 14: 50,238,760 N42D probably damaging Het
Prmt3 G A 7: 49,826,737 V365I probably benign Het
Prrc2c T C 1: 162,684,136 T958A probably benign Het
Ptprb T C 10: 116,331,259 Y947H probably damaging Het
Pus10 C T 11: 23,712,275 S315L probably damaging Het
Rmi1 C A 13: 58,409,476 S513* probably null Het
Sec14l3 C T 11: 4,074,768 P239L probably damaging Het
Slc44a3 T C 3: 121,527,074 T93A possibly damaging Het
Stat1 G A 1: 52,132,544 A125T probably benign Het
Tigd2 C T 6: 59,211,698 Q517* probably null Het
Trav13d-3 C T 14: 53,033,380 Q100* probably null Het
Trim67 G A 8: 124,825,952 D598N probably damaging Het
Trio A G 15: 27,735,436 L2856P probably 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
IGL02499:Kcnk18 APN 19 59235182 missense probably benign 0.10
IGL02527:Kcnk18 APN 19 59235275 missense probably damaging 0.99
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