Incidental Mutation 'IGL02354:Kcna1'
| ID |
289592 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcna1
|
| Ensembl Gene |
ENSMUSG00000047976 |
| Gene Name |
potassium voltage-gated channel, shaker-related subfamily, member 1 |
| Synonyms |
Shak, mouse brain potassium channel protein-1, mceph, Mk-1, MBK1, Kv1.1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
IGL02354
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
126617360-126623347 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 126619869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 150
(Q150H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055168]
[ENSMUST00000203094]
|
| AlphaFold |
P16388 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055168
AA Change: Q150H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000055225
Gene: ENSMUSG00000047976
AA Change: Q150H
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
37 |
137 |
2.44e-10 |
SMART |
|
Pfam:Ion_trans
|
166 |
419 |
1.4e-52 |
PFAM |
|
Pfam:Ion_trans_2
|
327 |
412 |
1.3e-15 |
PFAM |
|
low complexity region
|
437 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203094
AA Change: Q150H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144947
Gene: ENSMUSG00000047976
AA Change: Q150H
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
37 |
137 |
2.44e-10 |
SMART |
|
Pfam:Ion_trans
|
166 |
419 |
1.4e-52 |
PFAM |
|
Pfam:Ion_trans_2
|
327 |
412 |
1.3e-15 |
PFAM |
|
low complexity region
|
437 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205171
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008]
PHENOTYPE: Various mutations at this allele have diverse affects including behavioral abnormalities, megencephaly, and in one case, embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp1 |
A |
C |
6: 55,322,498 (GRCm39) |
L164F |
possibly damaging |
Het |
| Bfsp1 |
T |
C |
2: 143,673,907 (GRCm39) |
E261G |
probably damaging |
Het |
| Brinp2 |
A |
G |
1: 158,074,748 (GRCm39) |
C458R |
probably damaging |
Het |
| Cacng3 |
T |
G |
7: 122,271,169 (GRCm39) |
M58R |
possibly damaging |
Het |
| Cfap43 |
A |
T |
19: 47,885,852 (GRCm39) |
C254* |
probably null |
Het |
| Cnga1 |
T |
C |
5: 72,774,061 (GRCm39) |
|
probably null |
Het |
| Dis3 |
A |
T |
14: 99,317,148 (GRCm39) |
Y765* |
probably null |
Het |
| Dpep1 |
T |
A |
8: 123,926,957 (GRCm39) |
S260R |
probably benign |
Het |
| Elmod1 |
A |
G |
9: 53,838,842 (GRCm39) |
L106P |
probably damaging |
Het |
| Fut10 |
A |
G |
8: 31,691,398 (GRCm39) |
Y81C |
probably damaging |
Het |
| Fzd10 |
T |
A |
5: 128,678,932 (GRCm39) |
D217E |
possibly damaging |
Het |
| Gap43 |
T |
C |
16: 42,160,871 (GRCm39) |
|
probably benign |
Het |
| Gigyf1 |
T |
C |
5: 137,517,989 (GRCm39) |
|
probably benign |
Het |
| Gpc5 |
C |
T |
14: 115,370,699 (GRCm39) |
R175* |
probably null |
Het |
| Gpi-ps |
T |
C |
8: 5,690,896 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr61 |
A |
G |
3: 108,057,534 (GRCm39) |
S376P |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,835,677 (GRCm39) |
C1225* |
probably null |
Het |
| Lrrc25 |
A |
T |
8: 71,070,477 (GRCm39) |
D86V |
probably benign |
Het |
| Madd |
A |
T |
2: 90,992,543 (GRCm39) |
V1043E |
probably benign |
Het |
| Mov10 |
A |
T |
3: 104,711,437 (GRCm39) |
|
probably benign |
Het |
| Mzb1 |
T |
A |
18: 35,782,250 (GRCm39) |
H46L |
possibly damaging |
Het |
| Nos3 |
A |
T |
5: 24,572,621 (GRCm39) |
I187F |
probably damaging |
Het |
| Or4c1 |
T |
A |
2: 89,133,526 (GRCm39) |
M137L |
probably benign |
Het |
| Or5p53 |
T |
A |
7: 107,533,484 (GRCm39) |
Y252* |
probably null |
Het |
| Or6c69c |
A |
G |
10: 129,911,143 (GRCm39) |
Y288C |
probably damaging |
Het |
| Pgap1 |
T |
C |
1: 54,551,975 (GRCm39) |
T486A |
probably benign |
Het |
| Prdm9 |
C |
T |
17: 15,783,109 (GRCm39) |
V58M |
probably damaging |
Het |
| Prkd2 |
A |
G |
7: 16,581,583 (GRCm39) |
Y146C |
probably damaging |
Het |
| Psmd9 |
G |
T |
5: 123,386,379 (GRCm39) |
R175I |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,049,188 (GRCm39) |
D618G |
probably damaging |
Het |
| Rgs6 |
A |
T |
12: 82,665,393 (GRCm39) |
|
probably benign |
Het |
| Rrm2 |
G |
T |
12: 24,761,438 (GRCm39) |
|
probably benign |
Het |
| Sall1 |
G |
T |
8: 89,759,677 (GRCm39) |
S142R |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,388,536 (GRCm39) |
V376A |
probably damaging |
Het |
| Slc5a10 |
A |
G |
11: 61,610,666 (GRCm39) |
|
probably null |
Het |
| Slfn3 |
A |
T |
11: 83,104,068 (GRCm39) |
Q313L |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,257,319 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
T |
11: 30,060,783 (GRCm39) |
F2062L |
probably damaging |
Het |
| Tbc1d10a |
T |
C |
11: 4,165,047 (GRCm39) |
V500A |
probably benign |
Het |
| Tcea1 |
T |
C |
1: 4,966,570 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,348,192 (GRCm39) |
|
probably benign |
Het |
| Tm9sf4 |
C |
T |
2: 153,029,570 (GRCm39) |
T173M |
probably benign |
Het |
| Tmtc2 |
T |
C |
10: 105,107,387 (GRCm39) |
T709A |
probably benign |
Het |
| Zfp385b |
T |
C |
2: 77,280,647 (GRCm39) |
E97G |
probably damaging |
Het |
| Zim1 |
A |
T |
7: 6,685,873 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Kcna1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02361:Kcna1
|
APN |
6 |
126,619,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02900:Kcna1
|
APN |
6 |
126,620,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03046:Kcna1
|
UTSW |
6 |
126,619,148 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0694:Kcna1
|
UTSW |
6 |
126,619,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1530:Kcna1
|
UTSW |
6 |
126,619,494 (GRCm39) |
missense |
probably benign |
|
|
R1531:Kcna1
|
UTSW |
6 |
126,619,030 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1676:Kcna1
|
UTSW |
6 |
126,619,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Kcna1
|
UTSW |
6 |
126,619,771 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3815:Kcna1
|
UTSW |
6 |
126,620,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4012:Kcna1
|
UTSW |
6 |
126,619,873 (GRCm39) |
missense |
probably benign |
|
|
R4290:Kcna1
|
UTSW |
6 |
126,618,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4492:Kcna1
|
UTSW |
6 |
126,619,238 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4820:Kcna1
|
UTSW |
6 |
126,619,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5114:Kcna1
|
UTSW |
6 |
126,619,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5433:Kcna1
|
UTSW |
6 |
126,620,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6171:Kcna1
|
UTSW |
6 |
126,619,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:Kcna1
|
UTSW |
6 |
126,619,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Kcna1
|
UTSW |
6 |
126,619,703 (GRCm39) |
missense |
probably benign |
|
|
R8040:Kcna1
|
UTSW |
6 |
126,619,703 (GRCm39) |
missense |
probably benign |
|
|
R8167:Kcna1
|
UTSW |
6 |
126,620,443 (GRCm39) |
start gained |
probably benign |
|
|
R8311:Kcna1
|
UTSW |
6 |
126,619,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation