Incidental Mutation 'IGL02263:Kcnj4'
ID286831
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj4
Ensembl Gene ENSMUSG00000044216
Gene Namepotassium inwardly-rectifying channel, subfamily J, member 4
SynonymsMB-IRK3, Kir 2.3, Kcnf2, IRK3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL02263
Quality Score
Status
Chromosome15
Chromosomal Location79483714-79505241 bp(-) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) A to G at 79485787 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000094075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057801]
Predicted Effect probably benign
Transcript: ENSMUST00000057801
SMART Domains Protein: ENSMUSP00000094075
Gene: ENSMUSG00000044216

DomainStartEndE-ValueType
Pfam:IRK 22 361 2.1e-155 PFAM
coiled coil region 371 400 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229365
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A G 1: 38,535,599 V100A probably damaging Het
Agmo T A 12: 37,357,697 N193K probably damaging Het
Dnah8 A G 17: 30,729,165 I1910V probably benign Het
Dsg2 T A 18: 20,590,020 S368T possibly damaging Het
Eif2ak4 A G 2: 118,461,778 T1270A probably benign Het
Ina T C 19: 47,015,487 S245P probably damaging Het
Katnb1 A G 8: 95,090,075 K96R probably damaging Het
Kcnn3 A G 3: 89,661,218 H601R possibly damaging Het
Lrrc25 C A 8: 70,617,822 F84L probably benign Het
Ltb A G 17: 35,196,001 Y259C probably damaging Het
Macc1 T G 12: 119,446,017 N173K possibly damaging Het
Med17 A T 9: 15,267,476 N466K probably damaging Het
Ncoa2 A T 1: 13,174,763 N570K probably damaging Het
Olfr1051 T A 2: 86,276,202 Y95F probably benign Het
Olfr1134 A T 2: 87,656,199 C241S probably damaging Het
Olfr629 A T 7: 103,741,055 F62I probably damaging Het
Plb1 T C 5: 32,321,348 probably benign Het
Ptprk G A 10: 28,075,114 V12I unknown Het
Rabggta G A 14: 55,718,961 probably benign Het
Slc41a2 A G 10: 83,313,500 V193A possibly damaging Het
Thbs1 A G 2: 118,119,880 N665D probably benign Het
Tm9sf1 T C 14: 55,642,935 T2A possibly damaging Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Vmn1r91 A G 7: 20,101,843 D229G probably benign Het
Vmn2r7 A C 3: 64,691,447 V654G probably damaging Het
Other mutations in Kcnj4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Kcnj4 APN 15 79484579 missense probably benign 0.01
IGL02551:Kcnj4 APN 15 79484902 missense probably benign 0.05
R1305:Kcnj4 UTSW 15 79484819 missense probably damaging 1.00
R1464:Kcnj4 UTSW 15 79485404 missense probably damaging 1.00
R1464:Kcnj4 UTSW 15 79485404 missense probably damaging 1.00
R1475:Kcnj4 UTSW 15 79484630 missense probably damaging 1.00
R1844:Kcnj4 UTSW 15 79485015 missense probably damaging 1.00
R3906:Kcnj4 UTSW 15 79485745 missense probably benign 0.01
R3907:Kcnj4 UTSW 15 79485745 missense probably benign 0.01
R3908:Kcnj4 UTSW 15 79485745 missense probably benign 0.01
R4396:Kcnj4 UTSW 15 79484673 missense probably benign 0.06
X0062:Kcnj4 UTSW 15 79485690 missense probably benign 0.06
Posted On2015-04-16