Incidental Mutation 'IGL00562:Kcna3'
ID6787
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcna3
Ensembl Gene ENSMUSG00000047959
Gene Namepotassium voltage-gated channel, shaker-related subfamily, member 3
SynonymsKv1.3, Mk-3, Kca1-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #IGL00562
Quality Score
Status
Chromosome3
Chromosomal Location107036169-107038070 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107036730 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 103 (D103G)
Ref Sequence ENSEMBL: ENSMUSP00000050680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052718]
Predicted Effect probably damaging
Transcript: ENSMUST00000052718
AA Change: D103G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050680
Gene: ENSMUSG00000047959
AA Change: D103G

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
low complexity region 41 49 N/A INTRINSIC
BTB 57 157 6.9e-10 SMART
Pfam:Ion_trans 186 444 4.2e-54 PFAM
Pfam:Ion_trans_2 352 437 2.3e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000070085
SMART Domains Protein: ENSMUSP00000066165
Gene: ENSMUSG00000056145

DomainStartEndE-ValueType
low complexity region 79 99 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182414
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 represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display no apparent immune system defects. Mice homozygous for a different knock-out allele show reduced body weight, increased basal metabolic rate, resistance to diet-induced obesity, increased insulin sensitivity, and altered peripheral glucose metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T C 5: 24,997,621 probably benign Het
AU016765 C A 17: 64,519,882 noncoding transcript Het
Chaf1b T C 16: 93,900,191 probably benign Het
Clstn2 A G 9: 97,582,452 probably benign Het
Crip1 T A 12: 113,153,612 probably null Het
Cubn A G 2: 13,294,230 S3211P probably benign Het
Dlx6 C T 6: 6,865,143 R172W probably damaging Het
Fktn A T 4: 53,747,007 probably null Het
Focad T A 4: 88,348,809 M1019K unknown Het
Fuca2 A T 10: 13,505,907 D188V probably damaging Het
Mrpl19 A G 6: 81,965,872 V19A probably benign Het
Ndufb3 T A 1: 58,595,799 H103Q possibly damaging Het
Pkd1l3 T C 8: 109,656,147 V1675A possibly damaging Het
Ptger4 A T 15: 5,243,133 S2T probably benign Het
Saxo1 C T 4: 86,445,572 E225K probably damaging Het
Sftpb G T 6: 72,309,862 A228S probably benign Het
Slc22a29 T A 19: 8,161,629 T490S probably benign Het
Slc29a1 T C 17: 45,589,992 N50S probably damaging Het
Smc6 T A 12: 11,301,531 S854T probably benign Het
Smim23 T C 11: 32,821,893 T58A probably benign Het
Tas2r134 T C 2: 51,628,088 I193T possibly damaging Het
Thsd7a G T 6: 12,379,659 probably null Het
Trav13n-4 T G 14: 53,363,966 V64G possibly damaging Het
Trmt10a G A 3: 138,147,416 E13K probably damaging Het
Txndc11 T C 16: 11,104,632 S239G probably damaging Het
Vmn2r96 T A 17: 18,583,815 N442K probably benign Het
Vps13a C T 19: 16,734,714 probably null Het
Other mutations in Kcna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Kcna3 APN 3 107037156 missense probably benign 0.33
IGL01106:Kcna3 APN 3 107037864 missense possibly damaging 0.89
IGL01318:Kcna3 APN 3 107037978 missense probably benign 0.03
IGL02253:Kcna3 APN 3 107037411 missense probably damaging 1.00
IGL03379:Kcna3 APN 3 107037205 missense probably benign 0.05
IGL02802:Kcna3 UTSW 3 107037053 missense probably damaging 0.99
IGL03014:Kcna3 UTSW 3 107037890 missense probably benign 0.00
R0393:Kcna3 UTSW 3 107036999 missense probably damaging 1.00
R1591:Kcna3 UTSW 3 107037029 missense probably damaging 1.00
R1922:Kcna3 UTSW 3 107037935 missense possibly damaging 0.47
R1950:Kcna3 UTSW 3 107037672 missense probably damaging 1.00
R3847:Kcna3 UTSW 3 107036696 missense possibly damaging 0.57
R4912:Kcna3 UTSW 3 107037891 missense probably benign
R6261:Kcna3 UTSW 3 107037950 missense possibly damaging 0.53
R6271:Kcna3 UTSW 3 107037606 missense probably damaging 1.00
R6334:Kcna3 UTSW 3 107036424 start codon destroyed probably null
R6423:Kcna3 UTSW 3 107036842 nonsense probably null
R6850:Kcna3 UTSW 3 107037159 missense probably damaging 1.00
R6901:Kcna3 UTSW 3 107036568 missense probably benign 0.00
Z1088:Kcna3 UTSW 3 107036953 missense probably damaging 1.00
Posted On2012-04-20