Incidental Mutation 'IGL00489:Kcna3'
ID6786
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? Possibly non essential (E-score: 0.391) question?
Stock #IGL00489
Quality Score
Status
Chromosome3
Chromosomal Location107036169-107038070 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 107037156 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 245 (S245L)
Ref Sequence ENSEMBL: ENSMUSP00000050680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052718]
Predicted Effect probably benign
Transcript: ENSMUST00000052718
AA Change: S245L

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000050680
Gene: ENSMUSG00000047959
AA Change: S245L

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T C 10: 14,440,403 probably null Het
Alcam T A 16: 52,295,017 probably benign Het
Aspm C A 1: 139,478,691 A1772E probably damaging Het
Bag6 T A 17: 35,144,651 D770E probably damaging Het
Baz2b A T 2: 59,957,675 Y724* probably null Het
Ccdc178 A T 18: 21,844,911 I833N probably benign Het
Ccdc28a C A 10: 18,230,513 V22F possibly damaging Het
Cmya5 T C 13: 93,093,120 N1820S probably benign Het
Fancm T G 12: 65,106,193 I1141S probably benign Het
Fgfrl1 G A 5: 108,705,887 G287S probably damaging Het
Galntl6 G A 8: 57,857,540 P376S probably damaging Het
Gm21985 A G 2: 112,337,997 probably benign Het
Hck A G 2: 153,151,019 E482G possibly damaging Het
Mcc T C 18: 44,449,216 M798V possibly damaging Het
Nlrp9c T C 7: 26,384,588 Y522C probably benign Het
Ofcc1 C A 13: 40,280,491 S46I probably damaging Het
Pdgfra A G 5: 75,163,679 D65G probably benign Het
Phf24 A C 4: 42,933,905 T59P possibly damaging Het
Pik3cg A G 12: 32,205,149 Y280H probably damaging Het
Pkd1l1 C A 11: 8,834,773 probably null Het
Plcd4 C A 1: 74,552,115 T223N probably damaging Het
Polr1b G A 2: 129,125,909 G1074D probably damaging Het
Pou2f3 T C 9: 43,128,893 T367A probably damaging Het
Prkdc T A 16: 15,799,926 M3207K possibly damaging Het
Rb1cc1 T C 1: 6,249,506 S1050P probably damaging Het
Sf3b3 G A 8: 110,813,751 R1013* probably null Het
Svep1 T C 4: 58,068,988 T2933A possibly damaging Het
Vwf A G 6: 125,658,872 R289G unknown Het
Zfp263 T C 16: 3,745,846 S155P probably benign Het
Other mutations in Kcna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Kcna3 APN 3 107036730 missense probably damaging 1.00
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
R7193:Kcna3 UTSW 3 107036537 missense probably benign 0.02
R7524:Kcna3 UTSW 3 107037207 missense probably damaging 1.00
Z1088:Kcna3 UTSW 3 107036953 missense probably damaging 1.00
Z1176:Kcna3 UTSW 3 107037266 missense probably damaging 1.00
Posted On2012-04-20