Incidental Mutation 'IGL02726:Kcnk4'
ID305236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnk4
Ensembl Gene ENSMUSG00000024957
Gene Namepotassium channel, subfamily K, member 4
SynonymsTRAAKt
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02726
Quality Score
Status
Chromosome19
Chromosomal Location6925710-6934515 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 6927089 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025908] [ENSMUST00000057716]
Predicted Effect probably null
Transcript: ENSMUST00000025908
SMART Domains Protein: ENSMUSP00000025908
Gene: ENSMUSG00000024957

DomainStartEndE-ValueType
Pfam:Ion_trans 2 147 8.1e-9 PFAM
Pfam:Ion_trans_2 64 145 1.7e-21 PFAM
Pfam:Ion_trans_2 174 260 5.3e-22 PFAM
low complexity region 303 319 N/A INTRINSIC
low complexity region 367 390 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000057716
SMART Domains Protein: ENSMUSP00000056681
Gene: ENSMUSG00000050623

DomainStartEndE-ValueType
low complexity region 104 118 N/A INTRINSIC
low complexity region 137 146 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit normal sensitivity to pharmacologically induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik A G 13: 34,952,960 probably benign Het
Anapc1 A T 2: 128,659,785 M779K probably benign Het
Art1 G A 7: 102,110,748 V85M probably damaging Het
Atad2b G T 12: 4,974,003 E43* probably null Het
Clec4a4 A T 6: 122,990,379 I5F probably damaging Het
Cr1l A T 1: 195,129,880 I45N probably damaging Het
Dmbt1 T A 7: 131,074,410 probably benign Het
Dnajb3 A T 1: 88,205,650 V10E probably damaging Het
Dnajc22 A T 15: 99,101,000 H22L probably damaging Het
Dnal4 A G 15: 79,763,544 V40A probably damaging Het
Dsg1b G A 18: 20,399,485 V529I probably benign Het
Fam131c T A 4: 141,382,802 D170E probably benign Het
Gm13088 G T 4: 143,655,385 P247H probably damaging Het
Got1 G A 19: 43,500,412 probably null Het
Herc1 T A 9: 66,441,988 V2043E probably benign Het
Hmcn1 A T 1: 150,656,694 Y3147* probably null Het
Ifi44 T C 3: 151,749,596 probably benign Het
Ikbkap T A 4: 56,767,878 probably null Het
Il1b A T 2: 129,367,322 D129E probably damaging Het
Ino80 A T 2: 119,442,483 I504N probably damaging Het
Itpr2 A G 6: 146,375,921 I655T probably benign Het
Mrgprb2 T A 7: 48,552,870 R36W probably damaging Het
Mslnl T C 17: 25,744,103 probably null Het
Olfr1008 G T 2: 85,690,210 L260F possibly damaging Het
Olfr1338 T A 4: 118,753,764 Y260F probably benign Het
Olfr393 T C 11: 73,847,865 S87G probably benign Het
Olfr694 A C 7: 106,689,370 Y120* probably null Het
Pcnx4 G T 12: 72,574,212 M935I probably benign Het
Pdgfra C T 5: 75,194,957 Q1043* probably null Het
Pf4 T C 5: 90,772,664 V28A probably benign Het
Piezo1 A G 8: 122,487,155 L1689P probably damaging Het
Ppa2 A G 3: 133,370,461 S284G possibly damaging Het
Psd2 T C 18: 35,987,302 probably null Het
Rbm25 G T 12: 83,672,852 G549W probably damaging Het
Ryr2 T C 13: 11,738,320 D1705G probably damaging Het
Shf A T 2: 122,359,488 D96E probably damaging Het
Slc1a1 G A 19: 28,911,769 V481M probably benign Het
Slc4a9 T C 18: 36,539,617 V807A probably benign Het
Syne2 T A 12: 76,015,582 I4226N probably damaging Het
Tkfc A T 19: 10,596,212 V254E possibly damaging Het
Ubr2 A C 17: 46,972,921 Y601D probably damaging Het
Ubr5 A C 15: 38,000,562 probably benign Het
Vmn1r27 A T 6: 58,215,869 I50K possibly damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Kcnk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01569:Kcnk4 APN 19 6927177 missense probably damaging 1.00
IGL02047:Kcnk4 APN 19 6926258 missense probably benign 0.00
R0149:Kcnk4 UTSW 19 6926194 missense probably benign 0.08
R0617:Kcnk4 UTSW 19 6928160 unclassified probably benign
R1392:Kcnk4 UTSW 19 6927663 missense possibly damaging 0.80
R1392:Kcnk4 UTSW 19 6927663 missense possibly damaging 0.80
R3017:Kcnk4 UTSW 19 6927794 missense probably damaging 0.96
R4439:Kcnk4 UTSW 19 6932761 missense probably benign 0.01
R4895:Kcnk4 UTSW 19 6928416 splice site probably null
R5208:Kcnk4 UTSW 19 6927701 missense possibly damaging 0.79
R5409:Kcnk4 UTSW 19 6926210 missense probably benign 0.00
R5743:Kcnk4 UTSW 19 6928355 missense possibly damaging 0.69
R6233:Kcnk4 UTSW 19 6928329 missense probably benign 0.29
R6466:Kcnk4 UTSW 19 6928297 missense probably damaging 1.00
Posted On2015-04-16