Incidental Mutation 'IGL03033:Kcnk18'
ID408531
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 #IGL03033
Quality Score
Status
Chromosome19
Chromosomal Location59219648-59237370 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 59235184 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 254 (P254S)
Ref Sequence ENSEMBL: ENSMUSP00000065713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065204]
Predicted Effect probably benign
Transcript: ENSMUST00000065204
AA Change: P254S

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000065713
Gene: ENSMUSG00000040901
AA Change: P254S

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,932,518 T566S probably benign Het
Ap3b1 A G 13: 94,448,495 T405A probably benign Het
Bicd2 G T 13: 49,379,920 V587L probably benign Het
Bsn A T 9: 108,115,993 D853E probably damaging Het
Cacna1i C A 15: 80,362,239 N611K probably damaging Het
Capn11 A G 17: 45,642,547 L227P probably damaging Het
Copb2 A G 9: 98,570,373 N70S probably benign Het
Ddb1 T C 19: 10,625,926 V866A possibly damaging Het
Dst A G 1: 34,169,745 probably benign Het
Ero1lb A G 13: 12,581,670 Y117C probably damaging Het
Esyt1 T G 10: 128,516,383 R758S probably benign Het
Gm20441 A G 10: 75,771,492 F55S probably damaging Het
Gm20547 A T 17: 34,859,516 M362K probably damaging Het
Gucy1b2 A G 14: 62,415,944 V334A probably benign Het
Hnrnph3 A T 10: 63,018,179 F53L probably benign Het
Lrfn5 T A 12: 61,840,047 L207Q probably damaging Het
Lrp3 T C 7: 35,202,627 M589V possibly damaging Het
Nlrp1b A G 11: 71,161,839 V918A probably benign Het
Nsg2 A G 11: 32,001,836 T29A probably damaging Het
Olfr66 T A 7: 103,881,517 H242L probably damaging Het
Pank4 C T 4: 154,974,715 T435I probably damaging Het
Prom1 C T 5: 44,006,160 probably null Het
Prr14 G T 7: 127,471,963 L3F probably damaging Het
Rfx7 A T 9: 72,532,989 probably benign Het
Rhbdl3 A G 11: 80,346,827 N295S probably damaging Het
Ripk3 A G 14: 55,787,165 probably benign Het
Ror1 A T 4: 100,411,895 N310I possibly damaging Het
Rpl23a T C 11: 78,181,582 Y74C possibly damaging Het
Rtp3 A T 9: 110,986,094 probably benign Het
Sbno1 A T 5: 124,376,150 N1326K probably damaging Het
Sepsecs T C 5: 52,660,676 N253S probably damaging Het
Setd2 A C 9: 110,551,275 E1386A possibly damaging Het
Sf3b3 T C 8: 110,810,964 I1211V possibly damaging Het
Sh3tc2 G A 18: 61,974,478 V187M possibly damaging Het
Slc30a6 G T 17: 74,409,378 E136* probably null Het
Sptan1 T A 2: 29,991,033 V438E probably damaging Het
Stab2 A G 10: 86,996,803 probably null Het
Sult2a1 T A 7: 13,832,710 probably benign Het
Tmem198 A G 1: 75,482,968 D189G possibly damaging Het
Tnfrsf8 C A 4: 145,292,649 L205F possibly damaging Het
Vmn1r68 T A 7: 10,528,147 E8V probably damaging Het
Wnk3 G A X: 151,276,928 D742N probably damaging Het
Xpc A T 6: 91,491,315 probably null Het
Zfp113 A T 5: 138,151,196 probably benign Het
Zfp120 A T 2: 150,119,874 D51E probably benign Het
Zfp473 C T 7: 44,733,098 V603M probably benign 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
IGL02527:Kcnk18 APN 19 59235275 missense probably damaging 0.99
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 On2016-08-02