Incidental Mutation 'R6171:Kcna1'
| ID |
490436 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
044314-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R6171 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
126617360-126623347 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126619286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 345
(Y345N)
|
| 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: Y345N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055225
Gene: ENSMUSG00000047976
AA Change: Y345N
| 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: Y345N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144947
Gene: ENSMUSG00000047976
AA Change: Y345N
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprs |
A |
G |
4: 126,211,110 (GRCm39) |
V269A |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,882,663 (GRCm39) |
V517D |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,763,324 (GRCm39) |
Q1073* |
probably null |
Het |
| C87436 |
A |
C |
6: 86,422,449 (GRCm39) |
T8P |
probably benign |
Het |
| Clasrp |
T |
C |
7: 19,318,747 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
G |
T |
2: 91,821,614 (GRCm39) |
Q254K |
probably damaging |
Het |
| Dapl1 |
C |
A |
2: 59,326,946 (GRCm39) |
T64K |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,313,868 (GRCm39) |
L4168Q |
probably damaging |
Het |
| Dnttip2 |
T |
A |
3: 122,072,511 (GRCm39) |
I597N |
probably damaging |
Het |
| Dyrk1b |
A |
T |
7: 27,885,975 (GRCm39) |
|
probably null |
Het |
| Elk3 |
G |
T |
10: 93,085,906 (GRCm39) |
P132Q |
probably damaging |
Het |
| Galt |
C |
T |
4: 41,757,541 (GRCm39) |
P238S |
probably damaging |
Het |
| Gm10322 |
T |
C |
10: 59,452,084 (GRCm39) |
V67A |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,754,850 (GRCm39) |
Y412C |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,342,505 (GRCm39) |
Y419C |
probably damaging |
Het |
| Klf15 |
G |
T |
6: 90,443,601 (GRCm39) |
A59S |
possibly damaging |
Het |
| Mettl17 |
T |
A |
14: 52,126,236 (GRCm39) |
Y162N |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,682,716 (GRCm39) |
R1050Q |
probably damaging |
Het |
| Nek4 |
T |
C |
14: 30,692,304 (GRCm39) |
V376A |
probably benign |
Het |
| Nemp1 |
T |
A |
10: 127,525,319 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
T |
C |
7: 26,258,188 (GRCm39) |
I602T |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,628,906 (GRCm39) |
V764A |
probably damaging |
Het |
| Or12e1 |
T |
A |
2: 87,022,709 (GRCm39) |
V226E |
possibly damaging |
Het |
| Or8c17 |
C |
T |
9: 38,179,898 (GRCm39) |
Q22* |
probably null |
Het |
| Osbp2 |
A |
T |
11: 3,667,221 (GRCm39) |
|
probably null |
Het |
| Pax2 |
A |
G |
19: 44,779,179 (GRCm39) |
Y185C |
probably damaging |
Het |
| Pdyn |
A |
T |
2: 129,530,268 (GRCm39) |
S134T |
possibly damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Ppp1r13l |
A |
G |
7: 19,111,436 (GRCm39) |
M754V |
probably benign |
Het |
| Prr23a3 |
T |
A |
9: 98,747,731 (GRCm39) |
N228K |
probably benign |
Het |
| Psmd12 |
T |
C |
11: 107,382,733 (GRCm39) |
F213L |
probably damaging |
Het |
| Qser1 |
A |
T |
2: 104,619,628 (GRCm39) |
S395T |
probably damaging |
Het |
| Rab7b |
A |
G |
1: 131,626,372 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,738,709 (GRCm39) |
L2821* |
probably null |
Het |
| Rplp0 |
A |
G |
5: 115,699,219 (GRCm39) |
N127S |
probably benign |
Het |
| Serpina9 |
G |
T |
12: 103,974,678 (GRCm39) |
Y158* |
probably null |
Het |
| Sis |
G |
A |
3: 72,868,360 (GRCm39) |
T110M |
possibly damaging |
Het |
| Slc43a2 |
A |
G |
11: 75,453,876 (GRCm39) |
Y263C |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Stard13 |
A |
T |
5: 151,016,227 (GRCm39) |
V88E |
probably damaging |
Het |
| Trim29 |
G |
A |
9: 43,230,674 (GRCm39) |
E286K |
probably damaging |
Het |
| Vmn2r24 |
T |
C |
6: 123,764,205 (GRCm39) |
S361P |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,214,308 (GRCm39) |
T18A |
probably damaging |
Het |
| Xylb |
C |
T |
9: 119,210,657 (GRCm39) |
T380M |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,994,119 (GRCm39) |
T422A |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,602 (GRCm39) |
E657G |
probably damaging |
Het |
|
| Other mutations in Kcna1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02354:Kcna1
|
APN |
6 |
126,619,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAATTGTCAGCACACCAGC -3'
(R):5'- ATTACCCTGGGCACGGAGATAG -3'
Sequencing Primer
(F):5'- TCAGCACACCAGCGATGG -3'
(R):5'- CTGGGCACGGAGATAGCTGAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation