Incidental Mutation 'IGL00481:Kcna10'
ID6784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcna10
Ensembl Gene ENSMUSG00000042861
Gene Namepotassium voltage-gated channel, shaker-related subfamily, member 10
SynonymsKcna8, Kv1.8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #IGL00481
Quality Score
Status
Chromosome3
Chromosomal Location107183056-107195721 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 107195514 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 487 (M487K)
Ref Sequence ENSEMBL: ENSMUSP00000088118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055064]
Predicted Effect probably benign
Transcript: ENSMUST00000055064
AA Change: M487K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088118
Gene: ENSMUSG00000042861
AA Change: M487K

DomainStartEndE-ValueType
BTB 86 186 1.07e-6 SMART
Pfam:Ion_trans 215 468 3.4e-51 PFAM
Pfam:Ion_trans_2 376 461 6.2e-16 PFAM
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 is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit significant vestibular and mild hearing dysfunction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik A G 11: 29,824,755 L234P probably damaging Het
9230110C19Rik T C 9: 8,042,431 Y57C probably damaging Het
Abca13 T C 11: 9,290,969 L944P probably damaging Het
Akap13 A G 7: 75,723,895 S1885G probably damaging Het
Aqp3 A G 4: 41,093,632 Y261H probably damaging Het
Arap2 A T 5: 62,635,962 N1380K probably damaging Het
Arntl2 T A 6: 146,809,666 M56K probably benign Het
Barx2 T C 9: 31,846,845 I266V unknown Het
BC034090 C T 1: 155,232,521 R360H probably benign Het
Ccnb2 T C 9: 70,418,907 K52E probably damaging Het
Ccp110 G A 7: 118,729,997 V868I possibly damaging Het
Cyld G T 8: 88,707,290 V236F probably damaging Het
Dst T C 1: 34,169,329 probably benign Het
Ehmt1 G T 2: 24,838,818 A637E possibly damaging Het
Erlin1 G T 19: 44,069,319 Y22* probably null Het
Ezh1 A T 11: 101,199,302 M539K possibly damaging Het
Fam160b1 A G 19: 57,381,345 E440G probably benign Het
Fancc A T 13: 63,400,245 I80N probably damaging Het
Fat1 G A 8: 45,050,940 S4447N probably benign Het
Frem3 A G 8: 80,668,810 Q1822R possibly damaging Het
Iqgap1 C T 7: 80,759,844 V248I probably benign Het
Itch T C 2: 155,213,023 I749T probably damaging Het
Krt83 A T 15: 101,488,211 L223Q probably benign Het
Mtmr2 T C 9: 13,785,916 I84T probably benign Het
Myocd G A 11: 65,187,154 T477M probably damaging Het
Nfic A T 10: 81,408,220 V240E possibly damaging Het
Olfr463 A G 11: 87,893,621 I101T possibly damaging Het
Prkdc A T 16: 15,790,466 Y3044F probably benign Het
Prkg1 A G 19: 30,571,622 I636T probably benign Het
Ptpru A G 4: 131,808,235 V477A probably benign Het
Rab7b T A 1: 131,698,591 M119K possibly damaging Het
Sec61a1 T C 6: 88,506,940 probably benign Het
Sectm1b A G 11: 121,055,973 V32A probably benign Het
Shroom2 A G X: 152,623,223 S1034P probably benign Het
Sipa1l3 A T 7: 29,386,108 I688N probably damaging Het
Slc24a1 T C 9: 64,928,019 Y942C probably damaging Het
Smg1 C T 7: 118,210,794 R139K possibly damaging Het
Stt3b G A 9: 115,251,847 T574I probably benign Het
Thoc2 A G X: 41,879,891 I76T possibly damaging Het
Tpm3 C T 3: 90,087,717 T180M probably damaging Het
Uqcrfs1 C A 13: 30,540,925 V211F probably benign Het
Usp47 A G 7: 112,074,783 S418G probably benign Het
Usp5 T C 6: 124,829,353 T15A probably benign Het
Vps13c T C 9: 67,860,865 L122P probably damaging Het
Zfp677 A T 17: 21,397,668 E329V probably benign Het
Zfyve16 A T 13: 92,516,538 N846K possibly damaging Het
Zp1 G T 19: 10,918,777 P195T probably damaging Het
Other mutations in Kcna10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Kcna10 APN 3 107194728 missense probably damaging 1.00
IGL00645:Kcna10 APN 3 107195465 missense possibly damaging 0.95
IGL00974:Kcna10 APN 3 107195331 missense probably damaging 1.00
IGL03108:Kcna10 APN 3 107194943 missense probably benign 0.00
R0020:Kcna10 UTSW 3 107195420 missense probably damaging 1.00
R0421:Kcna10 UTSW 3 107194504 missense probably damaging 1.00
R0811:Kcna10 UTSW 3 107195259 missense possibly damaging 0.89
R0812:Kcna10 UTSW 3 107195259 missense possibly damaging 0.89
R2176:Kcna10 UTSW 3 107194716 missense probably damaging 1.00
R4405:Kcna10 UTSW 3 107195465 missense possibly damaging 0.95
R4668:Kcna10 UTSW 3 107194694 missense possibly damaging 0.83
R4703:Kcna10 UTSW 3 107194610 missense probably benign 0.22
R4719:Kcna10 UTSW 3 107194901 missense probably benign
R4736:Kcna10 UTSW 3 107195492 missense probably benign
R5227:Kcna10 UTSW 3 107194428 missense probably damaging 1.00
R5564:Kcna10 UTSW 3 107194229 missense probably benign
R5735:Kcna10 UTSW 3 107195078 missense probably benign
R7418:Kcna10 UTSW 3 107195046 missense probably benign 0.12
R7464:Kcna10 UTSW 3 107194079 missense probably damaging 0.99
R7699:Kcna10 UTSW 3 107195540 missense probably damaging 1.00
R7700:Kcna10 UTSW 3 107195540 missense probably damaging 1.00
R7978:Kcna10 UTSW 3 107194347 missense probably damaging 1.00
R8068:Kcna10 UTSW 3 107194410 missense possibly damaging 0.58
R8744:Kcna10 UTSW 3 107194386 missense probably damaging 1.00
X0026:Kcna10 UTSW 3 107195157 missense probably damaging 1.00
Posted On2012-04-20