Incidental Mutation 'IGL00645:Kcna10'
| ID |
11546 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcna10
|
| Ensembl Gene |
ENSMUSG00000042861 |
| Gene Name |
potassium voltage-gated channel, shaker-related subfamily, member 10 |
| Synonyms |
Kv1.8, Kcna8 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
IGL00645
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
107090459-107103037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107102781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 471
(E471K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055064]
|
| AlphaFold |
B2RQA1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055064
AA Change: E471K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088118
Gene: ENSMUSG00000042861
AA Change: E471K
| Domain | Start | End | E-Value | Type |
|---|
|
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: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c21 |
A |
G |
13: 4,626,312 (GRCm39) |
D112G |
probably damaging |
Het |
| Cd2 |
T |
C |
3: 101,190,539 (GRCm39) |
N135D |
probably damaging |
Het |
| Coq10b |
A |
G |
1: 55,100,468 (GRCm39) |
T51A |
probably benign |
Het |
| Cst5 |
T |
A |
2: 149,251,899 (GRCm39) |
C125S |
probably damaging |
Het |
| Fam135b |
A |
G |
15: 71,334,395 (GRCm39) |
V933A |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,159,023 (GRCm39) |
|
probably benign |
Het |
| Msl1 |
T |
A |
11: 98,696,247 (GRCm39) |
C598S |
probably damaging |
Het |
| Nup35 |
T |
A |
2: 80,485,176 (GRCm39) |
F192L |
probably damaging |
Het |
| Sec16b |
T |
A |
1: 157,394,289 (GRCm39) |
V1026D |
probably damaging |
Het |
| Serpina3f |
T |
C |
12: 104,183,599 (GRCm39) |
F154L |
probably benign |
Het |
|
| Other mutations in Kcna10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Kcna10
|
APN |
3 |
107,102,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00481:Kcna10
|
APN |
3 |
107,102,830 (GRCm39) |
missense |
probably benign |
|
|
IGL00974:Kcna10
|
APN |
3 |
107,102,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03108:Kcna10
|
APN |
3 |
107,102,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0020:Kcna10
|
UTSW |
3 |
107,102,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Kcna10
|
UTSW |
3 |
107,101,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0811:Kcna10
|
UTSW |
3 |
107,102,575 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0812:Kcna10
|
UTSW |
3 |
107,102,575 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2176:Kcna10
|
UTSW |
3 |
107,102,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4405:Kcna10
|
UTSW |
3 |
107,102,781 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4668:Kcna10
|
UTSW |
3 |
107,102,010 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4703:Kcna10
|
UTSW |
3 |
107,101,926 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4719:Kcna10
|
UTSW |
3 |
107,102,217 (GRCm39) |
missense |
probably benign |
|
|
R4736:Kcna10
|
UTSW |
3 |
107,102,808 (GRCm39) |
missense |
probably benign |
|
|
R5227:Kcna10
|
UTSW |
3 |
107,101,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5564:Kcna10
|
UTSW |
3 |
107,101,545 (GRCm39) |
missense |
probably benign |
|
|
R5735:Kcna10
|
UTSW |
3 |
107,102,394 (GRCm39) |
missense |
probably benign |
|
|
R7418:Kcna10
|
UTSW |
3 |
107,102,362 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7464:Kcna10
|
UTSW |
3 |
107,101,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7699:Kcna10
|
UTSW |
3 |
107,102,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7700:Kcna10
|
UTSW |
3 |
107,102,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7978:Kcna10
|
UTSW |
3 |
107,101,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8068:Kcna10
|
UTSW |
3 |
107,101,726 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8744:Kcna10
|
UTSW |
3 |
107,101,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Kcna10
|
UTSW |
3 |
107,101,419 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9137:Kcna10
|
UTSW |
3 |
107,102,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9728:Kcna10
|
UTSW |
3 |
107,101,513 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
X0026:Kcna10
|
UTSW |
3 |
107,102,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation