Incidental Mutation 'IGL02114:Kcne3'
ID280310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcne3
Ensembl Gene ENSMUSG00000035165
Gene Namepotassium voltage-gated channel, Isk-related subfamily, gene 3
Synonyms2210017H05Rik, MiRP2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL02114
Quality Score
Status
Chromosome7
Chromosomal Location100176502-100184869 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to A at 100184490 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049333] [ENSMUST00000170954] [ENSMUST00000178946] [ENSMUST00000179842] [ENSMUST00000207358] [ENSMUST00000207995] [ENSMUST00000208260]
Predicted Effect probably benign
Transcript: ENSMUST00000049333
SMART Domains Protein: ENSMUSP00000039353
Gene: ENSMUSG00000035165

DomainStartEndE-ValueType
Pfam:ISK_Channel 36 101 2.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170954
SMART Domains Protein: ENSMUSP00000130019
Gene: ENSMUSG00000035165

DomainStartEndE-ValueType
Pfam:ISK_Channel 36 101 2.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178946
SMART Domains Protein: ENSMUSP00000136616
Gene: ENSMUSG00000035165

DomainStartEndE-ValueType
Pfam:ISK_Channel 20 101 1.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179842
SMART Domains Protein: ENSMUSP00000136415
Gene: ENSMUSG00000035165

DomainStartEndE-ValueType
Pfam:ISK_Channel 36 101 2.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207358
Predicted Effect probably benign
Transcript: ENSMUST00000207995
Predicted Effect probably benign
Transcript: ENSMUST00000208260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209114
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased cAMP-stimulated electrogenic Cl- secretion across tracheal and intestinal epithelia. Another knock-out allele shows age-dependent alterations in action potential and firing properties of spiral ganglion neurons in the cochlea. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700084J12Rik C A 15: 33,405,698 probably benign Het
Akap3 T C 6: 126,865,996 V526A probably damaging Het
Ano6 C A 15: 95,943,460 S479R probably damaging Het
Aqp8 C A 7: 123,464,196 H90N probably damaging Het
Arih1 A T 9: 59,426,169 C229S probably damaging Het
Col6a6 C A 9: 105,767,199 probably null Het
Cp A G 3: 19,966,347 E168G probably benign Het
Creb5 C T 6: 53,604,458 probably benign Het
Cyp2c66 C A 19: 39,171,075 probably benign Het
Dcpp2 C A 17: 23,900,635 A141D possibly damaging Het
Dnah5 A G 15: 28,397,124 D3321G probably damaging Het
Ecsit T C 9: 22,078,144 probably benign Het
Gabra1 T C 11: 42,135,575 I297V probably damaging Het
Gja8 T C 3: 96,920,025 K107R probably benign Het
Gm16686 A T 4: 88,755,502 L30Q probably null Het
Gm4758 T A 16: 36,311,255 Y42* probably null Het
Hbp1 T C 12: 31,930,675 probably benign Het
Inhbc T C 10: 127,370,102 I99V probably benign Het
Larp1 T C 11: 58,057,055 Y926H probably damaging Het
Lhfpl5 G T 17: 28,576,175 A59S possibly damaging Het
Mov10 T A 3: 104,795,318 probably benign Het
Myl12b A T 17: 70,977,169 N21K possibly damaging Het
Ncoa7 A T 10: 30,662,364 V675E probably damaging Het
Nt5c1b T C 12: 10,375,444 I255T probably damaging Het
Numa1 T A 7: 102,011,876 probably benign Het
Olfr273 T A 4: 52,856,144 Y123F probably damaging Het
Otop2 A T 11: 115,326,980 D214V possibly damaging Het
Plec C A 15: 76,173,548 G3928V probably damaging Het
Prkcz T C 4: 155,271,590 E176G probably damaging Het
Qdpr G A 5: 45,434,676 T106I possibly damaging Het
R3hdm2 T G 10: 127,484,109 M481R probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Skiv2l C T 17: 34,841,116 V145M probably damaging Het
Slx4ip T A 2: 137,000,200 V15D probably damaging Het
Stat4 T C 1: 52,102,865 S624P probably damaging Het
Tecpr2 T A 12: 110,968,887 L1380Q probably damaging Het
Traf2 T C 2: 25,524,992 I286V possibly damaging Het
Vmn2r30 T C 7: 7,337,409 I29V possibly damaging Het
Wdr43 A G 17: 71,652,848 Q561R probably benign Het
Zfp607b T A 7: 27,703,725 F535L probably benign Het
Other mutations in Kcne3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02499:Kcne3 APN 7 100184403 missense probably benign 0.24
R0632:Kcne3 UTSW 7 100184439 missense probably damaging 1.00
R1743:Kcne3 UTSW 7 100184424 missense probably damaging 1.00
R7897:Kcne3 UTSW 7 100184313 missense probably benign
Posted On2015-04-16