Incidental Mutation 'IGL01534:Kcna7'
ID89904
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcna7
Ensembl Gene ENSMUSG00000038201
Gene Namepotassium voltage-gated channel, shaker-related subfamily, member 7
SynonymsKv1.7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL01534
Quality Score
Status
Chromosome7
Chromosomal Location45405653-45409763 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 45406511 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 50 (N50K)
Ref Sequence ENSEMBL: ENSMUSP00000103403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107774]
Predicted Effect probably damaging
Transcript: ENSMUST00000107774
AA Change: N50K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103403
Gene: ENSMUSG00000038201
AA Change: N50K

DomainStartEndE-ValueType
BTB 45 145 1.77e-7 SMART
Pfam:Ion_trans 174 438 1.7e-52 PFAM
Pfam:Ion_trans_2 346 432 1.7e-13 PFAM
low complexity region 471 480 N/A INTRINSIC
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. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,368,081 L111P possibly damaging Het
Adck5 C A 15: 76,594,726 H383Q probably damaging Het
Asns T A 6: 7,675,397 H535L probably benign Het
Atf5 A G 7: 44,813,038 S221P probably damaging Het
Atr T C 9: 95,865,546 Y294H probably damaging Het
B230307C23Rik A G 16: 98,008,761 probably benign Het
C1qtnf6 C T 15: 78,525,216 E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 probably benign Het
Cd48 C A 1: 171,695,739 P50Q possibly damaging Het
Cnnm4 T C 1: 36,499,515 Y593H probably benign Het
Col27a1 G A 4: 63,225,782 R569Q probably benign Het
Cubn A T 2: 13,465,933 C549* probably null Het
Dsg1a T A 18: 20,340,996 M1042K probably benign Het
Dzip1 T A 14: 118,877,239 T835S probably damaging Het
Eif3c T C 7: 126,557,695 T389A probably benign Het
Erlin2 G T 8: 27,031,957 E177* probably null Het
Fam172a T A 13: 77,999,711 probably benign Het
Gabrb1 T A 5: 71,869,429 S91T possibly damaging Het
Grik3 T C 4: 125,686,190 V576A probably damaging Het
Gtpbp2 T A 17: 46,163,504 Y70N probably damaging Het
Idh3a T A 9: 54,601,222 probably benign Het
Ift74 G A 4: 94,679,944 R406H probably benign Het
Kcnd2 T C 6: 21,726,145 S546P probably benign Het
Lrp4 G A 2: 91,473,641 D134N probably damaging Het
Mcm2 A G 6: 88,887,718 probably null Het
Nlrp12 T C 7: 3,239,833 Y683C probably benign Het
Olfr1104 A G 2: 87,021,884 I220T probably damaging Het
Olfr114 A T 17: 37,590,072 Y94N possibly damaging Het
Olfr1499 T A 19: 13,815,302 H96L probably benign Het
Olfr1502 A T 19: 13,861,919 N42I probably damaging Het
Olfr710 T A 7: 106,944,339 I221F probably damaging Het
P2rx7 A C 5: 122,676,698 I409L probably damaging Het
Pde10a A G 17: 8,944,970 N191S probably damaging Het
Rabggtb A G 3: 153,910,259 probably null Het
Rgs4 A T 1: 169,744,516 C71* probably null Het
Rnase10 T C 14: 51,007,979 F5L probably benign Het
Scn11a T A 9: 119,780,822 T987S probably benign Het
Shox2 A C 3: 66,978,363 D126E probably benign Het
Slc12a1 A G 2: 125,217,910 D910G probably damaging Het
Slc15a1 C T 14: 121,464,952 C594Y possibly damaging Het
Spock2 C T 10: 60,127,061 probably benign Het
Togaram1 G T 12: 64,966,547 D191Y probably damaging Het
Triml2 T C 8: 43,187,623 V172A probably benign Het
Tubb3 C T 8: 123,420,966 R213C probably benign Het
Vmn2r4 A T 3: 64,406,423 V379E probably damaging Het
Zfp446 C T 7: 12,979,566 P153L probably damaging Het
Zfp608 A T 18: 54,898,932 N645K probably damaging Het
Other mutations in Kcna7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02477:Kcna7 APN 7 45409623 missense probably benign 0.01
R0373:Kcna7 UTSW 7 45409444 missense probably damaging 1.00
R0624:Kcna7 UTSW 7 45409690 missense probably null 1.00
R0850:Kcna7 UTSW 7 45409431 missense probably damaging 0.99
R1721:Kcna7 UTSW 7 45406921 missense possibly damaging 0.95
R1727:Kcna7 UTSW 7 45409506 missense possibly damaging 0.94
R3040:Kcna7 UTSW 7 45406788 frame shift probably null
R3755:Kcna7 UTSW 7 45408945 missense probably benign 0.00
R5024:Kcna7 UTSW 7 45406591 missense probably damaging 1.00
R5054:Kcna7 UTSW 7 45406591 missense probably damaging 1.00
R5055:Kcna7 UTSW 7 45406591 missense probably damaging 1.00
R5056:Kcna7 UTSW 7 45406591 missense probably damaging 1.00
R5549:Kcna7 UTSW 7 45406639 missense probably damaging 0.98
R6669:Kcna7 UTSW 7 45409564 missense probably damaging 1.00
R7284:Kcna7 UTSW 7 45409228 missense probably damaging 1.00
R7309:Kcna7 UTSW 7 45409255 missense probably damaging 1.00
R8028:Kcna7 UTSW 7 45409523 nonsense probably null
Z1088:Kcna7 UTSW 7 45406959 missense probably benign 0.21
Z1088:Kcna7 UTSW 7 45409105 missense probably damaging 1.00
Z1177:Kcna7 UTSW 7 45409183 missense probably damaging 0.99
Posted On2013-12-03