Incidental Mutation 'IGL02726:Kcnk4'
ID 305236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnk4
Ensembl Gene ENSMUSG00000024957
Gene Name potassium channel, subfamily K, member 4
Synonyms TRAAKt
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02726
Quality Score
Status
Chromosome 19
Chromosomal Location 6903030-6912261 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 6904457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025908] [ENSMUST00000057716]
AlphaFold O88454
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
Anapc1 A T 2: 128,501,705 (GRCm39) M779K probably benign Het
Art1 G A 7: 101,759,955 (GRCm39) V85M probably damaging Het
Atad2b G T 12: 5,024,003 (GRCm39) E43* probably null Het
Clec4a4 A T 6: 122,967,338 (GRCm39) I5F probably damaging Het
Cr1l A T 1: 194,812,188 (GRCm39) I45N probably damaging Het
Dmbt1 T A 7: 130,676,140 (GRCm39) probably benign Het
Dnajb3 A T 1: 88,133,372 (GRCm39) V10E probably damaging Het
Dnajc22 A T 15: 98,998,881 (GRCm39) H22L probably damaging Het
Dnal4 A G 15: 79,647,745 (GRCm39) V40A probably damaging Het
Dsg1b G A 18: 20,532,542 (GRCm39) V529I probably benign Het
Elp1 T A 4: 56,767,878 (GRCm39) probably null Het
Fam131c T A 4: 141,110,113 (GRCm39) D170E probably benign Het
Got1 G A 19: 43,488,851 (GRCm39) probably null Het
Herc1 T A 9: 66,349,270 (GRCm39) V2043E probably benign Het
Hmcn1 A T 1: 150,532,445 (GRCm39) Y3147* probably null Het
Ifi44 T C 3: 151,455,233 (GRCm39) probably benign Het
Il1b A T 2: 129,209,242 (GRCm39) D129E probably damaging Het
Ino80 A T 2: 119,272,964 (GRCm39) I504N probably damaging Het
Itpr2 A G 6: 146,277,419 (GRCm39) I655T probably benign Het
Mrgprb2 T A 7: 48,202,618 (GRCm39) R36W probably damaging Het
Mslnl T C 17: 25,963,077 (GRCm39) probably null Het
Or10ak14 T A 4: 118,610,961 (GRCm39) Y260F probably benign Het
Or1e33 T C 11: 73,738,691 (GRCm39) S87G probably benign Het
Or2ag1b A C 7: 106,288,577 (GRCm39) Y120* probably null Het
Or8k16 G T 2: 85,520,554 (GRCm39) L260F possibly damaging Het
Pcnx4 G T 12: 72,620,986 (GRCm39) M935I probably benign Het
Pdgfra C T 5: 75,355,618 (GRCm39) Q1043* probably null Het
Pf4 T C 5: 90,920,523 (GRCm39) V28A probably benign Het
Piezo1 A G 8: 123,213,894 (GRCm39) L1689P probably damaging Het
Ppa2 A G 3: 133,076,222 (GRCm39) S284G possibly damaging Het
Pramel22 G T 4: 143,381,955 (GRCm39) P247H probably damaging Het
Psd2 T C 18: 36,120,355 (GRCm39) probably null Het
Rbm25 G T 12: 83,719,626 (GRCm39) G549W probably damaging Het
Ryr2 T C 13: 11,753,206 (GRCm39) D1705G probably damaging Het
Shf A T 2: 122,189,969 (GRCm39) D96E probably damaging Het
Slc1a1 G A 19: 28,889,169 (GRCm39) V481M probably benign Het
Slc4a9 T C 18: 36,672,670 (GRCm39) V807A probably benign Het
Syne2 T A 12: 76,062,356 (GRCm39) I4226N probably damaging Het
Tex56 A G 13: 35,136,943 (GRCm39) probably benign Het
Tkfc A T 19: 10,573,576 (GRCm39) V254E possibly damaging Het
Ubr2 A C 17: 47,283,847 (GRCm39) Y601D probably damaging Het
Ubr5 A C 15: 38,000,806 (GRCm39) probably benign Het
Vmn1r27 A T 6: 58,192,854 (GRCm39) I50K possibly damaging Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Other mutations in Kcnk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01569:Kcnk4 APN 19 6,904,545 (GRCm39) missense probably damaging 1.00
IGL02047:Kcnk4 APN 19 6,903,626 (GRCm39) missense probably benign 0.00
R0149:Kcnk4 UTSW 19 6,903,562 (GRCm39) missense probably benign 0.08
R0617:Kcnk4 UTSW 19 6,905,528 (GRCm39) unclassified probably benign
R1392:Kcnk4 UTSW 19 6,905,031 (GRCm39) missense possibly damaging 0.80
R1392:Kcnk4 UTSW 19 6,905,031 (GRCm39) missense possibly damaging 0.80
R3017:Kcnk4 UTSW 19 6,905,162 (GRCm39) missense probably damaging 0.96
R4439:Kcnk4 UTSW 19 6,910,129 (GRCm39) missense probably benign 0.01
R4895:Kcnk4 UTSW 19 6,905,784 (GRCm39) splice site probably null
R5208:Kcnk4 UTSW 19 6,905,069 (GRCm39) missense possibly damaging 0.79
R5409:Kcnk4 UTSW 19 6,903,578 (GRCm39) missense probably benign 0.00
R5743:Kcnk4 UTSW 19 6,905,723 (GRCm39) missense possibly damaging 0.69
R6233:Kcnk4 UTSW 19 6,905,697 (GRCm39) missense probably benign 0.29
R6466:Kcnk4 UTSW 19 6,905,665 (GRCm39) missense probably damaging 1.00
R7358:Kcnk4 UTSW 19 6,903,478 (GRCm39) missense probably damaging 1.00
R8040:Kcnk4 UTSW 19 6,904,995 (GRCm39) missense probably damaging 1.00
R8356:Kcnk4 UTSW 19 6,903,668 (GRCm39) missense probably benign
R8437:Kcnk4 UTSW 19 6,903,602 (GRCm39) missense probably benign 0.01
R8444:Kcnk4 UTSW 19 6,903,508 (GRCm39) missense probably damaging 1.00
R8805:Kcnk4 UTSW 19 6,905,379 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16