Incidental Mutation 'IGL02743:Kcnj10'
ID305968
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj10
Ensembl Gene ENSMUSG00000044708
Gene Namepotassium inwardly-rectifying channel, subfamily J, member 10
SynonymsBIR10, Kir4.1, Kir1.2, Kir4.1, BIRK-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02743
Quality Score
Status
Chromosome1
Chromosomal Location172341210-172374085 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 172369654 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 245 (D245G)
Ref Sequence ENSEMBL: ENSMUSP00000054356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056136]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056136
AA Change: D245G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054356
Gene: ENSMUSG00000044708
AA Change: D245G

DomainStartEndE-ValueType
Pfam:IRK 31 363 2.2e-136 PFAM
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 inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice show increased input resistance and high depolarization of retinal Muller cells, loss of the endocochlear potential, motor coordination deficits and hindlimb paralysis, and a hypomyelination and spongiform vacuolation in the spinalcord associated with severe axonal pathology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn A C 5: 88,464,484 D188A probably damaging Het
Arfgef1 T C 1: 10,199,829 E365G probably benign Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
AW554918 C T 18: 25,289,944 Q151* probably null Het
Chd6 T C 2: 160,960,263 D2217G probably damaging Het
Cntn5 T A 9: 9,984,110 E166V probably damaging Het
Cyp4f15 T C 17: 32,699,952 S319P possibly damaging Het
Dna2 G A 10: 62,957,042 V279I possibly damaging Het
Edrf1 A G 7: 133,656,491 probably benign Het
Fmo3 A T 1: 162,958,483 F313I probably damaging Het
Lrsam1 T C 2: 32,928,649 probably null Het
Mfn1 A T 3: 32,574,290 H690L probably benign Het
Msh2 T C 17: 87,707,215 F474L probably damaging Het
Nlrp4a T G 7: 26,459,815 probably benign Het
Olfr1295 T A 2: 111,564,543 R300S possibly damaging Het
Olfr1424 A G 19: 12,059,447 F102L probably damaging Het
Olfr314 T A 11: 58,786,780 L182* probably null Het
Olfr561 T A 7: 102,775,298 I258N probably damaging Het
Olfr668 T C 7: 104,924,868 T299A probably damaging Het
Olfr955 G A 9: 39,470,246 T160I probably benign Het
Plcxd3 G A 15: 4,574,803 V298I possibly damaging Het
Prrc2b C T 2: 32,194,429 S302F probably damaging Het
Serpine2 A T 1: 79,801,555 F149I probably damaging Het
Slc24a5 T C 2: 125,088,234 L485P probably damaging Het
Spg11 T A 2: 122,059,507 H2118L probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stxbp1 T C 2: 32,819,901 D60G probably damaging Het
Themis2 T A 4: 132,783,484 E582D probably benign Het
Tmem131 T G 1: 36,793,151 I1802L probably benign Het
Tnrc6a A G 7: 123,171,473 K829E probably damaging Het
Usp8 T C 2: 126,734,023 M213T probably damaging Het
Wnk2 A G 13: 49,095,444 V377A probably damaging Het
Wwox T G 8: 115,351,704 Y375D probably damaging Het
Other mutations in Kcnj10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01771:Kcnj10 APN 1 172369583 missense probably benign 0.11
R0052:Kcnj10 UTSW 1 172368924 missense probably benign 0.30
R0490:Kcnj10 UTSW 1 172369452 missense probably damaging 0.96
R1424:Kcnj10 UTSW 1 172369255 missense probably damaging 1.00
R2153:Kcnj10 UTSW 1 172369888 missense possibly damaging 0.90
R3735:Kcnj10 UTSW 1 172369966 missense possibly damaging 0.81
R3826:Kcnj10 UTSW 1 172370049 missense probably damaging 1.00
R4725:Kcnj10 UTSW 1 172369159 missense probably damaging 1.00
R4726:Kcnj10 UTSW 1 172369072 missense probably damaging 1.00
R4727:Kcnj10 UTSW 1 172369699 missense probably damaging 1.00
R5434:Kcnj10 UTSW 1 172369480 missense probably damaging 1.00
R5755:Kcnj10 UTSW 1 172369594 missense possibly damaging 0.81
R6146:Kcnj10 UTSW 1 172369325 nonsense probably null
R7029:Kcnj10 UTSW 1 172368996 missense probably benign 0.07
R7235:Kcnj10 UTSW 1 172369426 missense probably damaging 0.98
R7350:Kcnj10 UTSW 1 172369260 missense possibly damaging 0.52
R8121:Kcnj10 UTSW 1 172369242 missense probably damaging 1.00
R8218:Kcnj10 UTSW 1 172368972 missense probably damaging 0.98
R8702:Kcnj10 UTSW 1 172369560 missense probably benign 0.27
Z1177:Kcnj10 UTSW 1 172369135 missense possibly damaging 0.86
Z1177:Kcnj10 UTSW 1 172369221 missense probably benign 0.14
Posted On2015-04-16