Incidental Mutation 'R4492:Kcna1'
ID |
330775 |
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 |
041581-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.365)
|
Stock # |
R4492 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
126617360-126623347 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 126619238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 361
(D361N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055168]
[ENSMUST00000203094]
|
AlphaFold |
P16388 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055168
AA Change: D361N
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000055225 Gene: ENSMUSG00000047976 AA Change: D361N
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 |
possibly damaging
Transcript: ENSMUST00000203094
AA Change: D361N
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144947 Gene: ENSMUSG00000047976 AA Change: D361N
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr6 |
T |
G |
10: 89,561,676 (GRCm39) |
I157L |
probably benign |
Het |
Amph |
T |
C |
13: 19,333,928 (GRCm39) |
V663A |
possibly damaging |
Het |
Anapc16 |
A |
G |
10: 59,826,724 (GRCm39) |
S50P |
possibly damaging |
Het |
Ank3 |
T |
A |
10: 69,644,755 (GRCm39) |
V60D |
probably damaging |
Het |
Btbd9 |
A |
G |
17: 30,746,545 (GRCm39) |
Y94H |
probably damaging |
Het |
Chil3 |
A |
G |
3: 106,063,017 (GRCm39) |
I191T |
probably damaging |
Het |
Clpb |
T |
C |
7: 101,436,929 (GRCm39) |
L668P |
probably damaging |
Het |
Cyp2d22 |
G |
A |
15: 82,258,571 (GRCm39) |
H97Y |
probably benign |
Het |
Dhrs7 |
A |
T |
12: 72,699,899 (GRCm39) |
N244K |
probably damaging |
Het |
Dusp4 |
C |
T |
8: 35,274,890 (GRCm39) |
T3M |
possibly damaging |
Het |
Edc4 |
GGATTTTAGCCA |
G |
8: 106,611,700 (GRCm39) |
|
probably null |
Het |
Etl4 |
G |
A |
2: 20,811,676 (GRCm39) |
S1621N |
possibly damaging |
Het |
Fam174a |
T |
C |
1: 95,241,701 (GRCm39) |
S54P |
probably benign |
Het |
Fdxacb1 |
T |
C |
9: 50,681,547 (GRCm39) |
F7S |
probably damaging |
Het |
Focad |
G |
A |
4: 88,278,142 (GRCm39) |
|
probably null |
Het |
Gpr156 |
T |
A |
16: 37,812,468 (GRCm39) |
L268H |
probably damaging |
Het |
Gpr17 |
A |
T |
18: 32,080,304 (GRCm39) |
I253N |
possibly damaging |
Het |
H2-T23 |
A |
T |
17: 36,343,058 (GRCm39) |
N106K |
probably damaging |
Het |
Hspa4 |
T |
C |
11: 53,171,296 (GRCm39) |
R303G |
probably damaging |
Het |
Irgm1 |
G |
A |
11: 48,756,955 (GRCm39) |
|
silent |
Het |
Jph1 |
A |
C |
1: 17,067,770 (GRCm39) |
I114S |
probably damaging |
Het |
Kcna4 |
G |
A |
2: 107,126,436 (GRCm39) |
R390Q |
probably damaging |
Het |
Lum |
C |
A |
10: 97,404,300 (GRCm39) |
P65H |
probably damaging |
Het |
Mc4r |
A |
G |
18: 66,992,711 (GRCm39) |
L134P |
probably benign |
Het |
Mroh8 |
A |
T |
2: 157,099,960 (GRCm39) |
I248N |
probably damaging |
Het |
Nos2 |
A |
G |
11: 78,840,921 (GRCm39) |
T677A |
probably benign |
Het |
Nup37 |
T |
A |
10: 88,010,791 (GRCm39) |
F257I |
possibly damaging |
Het |
Or13c3 |
T |
C |
4: 52,855,764 (GRCm39) |
I250V |
probably benign |
Het |
Or6k6 |
C |
T |
1: 173,944,770 (GRCm39) |
V271I |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,385,723 (GRCm39) |
D1016N |
possibly damaging |
Het |
Pdzd2 |
A |
C |
15: 12,419,567 (GRCm39) |
M501R |
possibly damaging |
Het |
Pitx1 |
T |
C |
13: 55,976,465 (GRCm39) |
K65E |
probably benign |
Het |
Pla1a |
C |
T |
16: 38,229,972 (GRCm39) |
A247T |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
Prss8 |
A |
G |
7: 127,528,979 (GRCm39) |
S26P |
probably damaging |
Het |
Rasef |
A |
C |
4: 73,652,740 (GRCm39) |
L587R |
probably damaging |
Het |
Rock2 |
T |
A |
12: 17,027,684 (GRCm39) |
C1334S |
probably damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Serpina6 |
A |
G |
12: 103,613,146 (GRCm39) |
W385R |
probably damaging |
Het |
Slc12a5 |
T |
C |
2: 164,821,263 (GRCm39) |
M249T |
probably benign |
Het |
Srsf9 |
T |
A |
5: 115,470,651 (GRCm39) |
I117N |
probably damaging |
Het |
Taf1 |
G |
T |
X: 100,586,665 (GRCm39) |
M313I |
possibly damaging |
Het |
Tmem30a |
T |
C |
9: 79,684,567 (GRCm39) |
H95R |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,770,346 (GRCm39) |
V139A |
probably benign |
Het |
Zfp236 |
A |
T |
18: 82,648,125 (GRCm39) |
V1012D |
probably damaging |
Het |
Zfp612 |
C |
A |
8: 110,815,929 (GRCm39) |
Q379K |
probably damaging |
Het |
Zfp930 |
C |
T |
8: 69,680,898 (GRCm39) |
Q198* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAACATGGAGCAACTGAGCC -3'
(R):5'- AGGGTGTTCAGAATCTTCAAACTC -3'
Sequencing Primer
(F):5'- GAGCAACTGAGCCTGCTCTTC -3'
(R):5'- GTGTTCAGAATCTTCAAACTCTCCCG -3'
|
Posted On |
2015-07-21 |