Incidental Mutation 'R6399:Kcna4'
| ID |
516091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcna4
|
| Ensembl Gene |
ENSMUSG00000042604 |
| Gene Name |
potassium voltage-gated channel, shaker-related subfamily, member 4 |
| Synonyms |
Kv1.4 |
| MMRRC Submission |
044546-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6399 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
107120984-107128847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107126894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 543
(S543P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037012]
|
| AlphaFold |
Q61423 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037012
AA Change: S543P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037958
Gene: ENSMUSG00000042604
AA Change: S543P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:K_channel_TID
|
1 |
74 |
1.5e-42 |
PFAM |
|
low complexity region
|
77 |
89 |
N/A |
INTRINSIC |
|
coiled coil region
|
112 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
166 |
N/A |
INTRINSIC |
|
BTB
|
177 |
277 |
1.67e-8 |
SMART |
|
Pfam:Ion_trans
|
307 |
572 |
2.8e-51 |
PFAM |
|
Pfam:Ion_trans_2
|
480 |
565 |
9e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173191
|
| Meta Mutation Damage Score |
0.9173 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
| Validation Efficiency |
97% (28/29) |
| 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 belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal; however, a small subset of mutants exhibit spontaneous seizure activity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
C |
5: 138,645,821 (GRCm39) |
C569R |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,031,784 (GRCm39) |
W207R |
probably damaging |
Het |
| Apbb2 |
C |
T |
5: 66,608,810 (GRCm39) |
|
probably null |
Het |
| Atad2b |
T |
C |
12: 5,007,558 (GRCm39) |
V415A |
probably damaging |
Het |
| Ccdc150 |
G |
A |
1: 54,303,116 (GRCm39) |
|
probably null |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,828,274 (GRCm39) |
T1072A |
probably damaging |
Het |
| Depdc1b |
T |
A |
13: 108,460,580 (GRCm39) |
F63L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,344 (GRCm39) |
V2431M |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,458,882 (GRCm39) |
E2421G |
probably damaging |
Het |
| Lrrc30 |
T |
A |
17: 67,939,681 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,294,319 (GRCm39) |
S1025T |
probably damaging |
Het |
| Ndrg3 |
C |
G |
2: 156,782,294 (GRCm39) |
A191P |
probably damaging |
Het |
| Or1o4 |
T |
C |
17: 37,590,666 (GRCm39) |
Y215C |
probably damaging |
Het |
| Or5aq7 |
C |
T |
2: 86,938,330 (GRCm39) |
V134I |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,961 (GRCm39) |
T57A |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Rnf34 |
T |
C |
5: 122,999,839 (GRCm39) |
F32L |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,676,834 (GRCm39) |
L205F |
probably benign |
Het |
| Tbc1d24 |
T |
A |
17: 24,427,303 (GRCm39) |
I220F |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,744,385 (GRCm39) |
T758S |
probably benign |
Het |
| Trak1 |
A |
G |
9: 121,282,562 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
C |
2: 76,556,407 (GRCm39) |
F30199L |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,556,406 (GRCm39) |
S30200R |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,202,447 (GRCm39) |
D1050G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,033,312 (GRCm39) |
S605C |
probably benign |
Het |
| Wbp1 |
A |
G |
6: 83,096,982 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
C |
A |
18: 45,019,469 (GRCm39) |
Q1413K |
possibly damaging |
Het |
|
| Other mutations in Kcna4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Kcna4
|
APN |
2 |
107,126,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01025:Kcna4
|
APN |
2 |
107,126,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01433:Kcna4
|
APN |
2 |
107,127,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01805:Kcna4
|
APN |
2 |
107,126,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02121:Kcna4
|
APN |
2 |
107,126,963 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Pinched
|
UTSW |
2 |
107,126,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6381_Kcna4_300
|
UTSW |
2 |
107,125,317 (GRCm39) |
missense |
probably benign |
0.05 |
|
PIT4377001:Kcna4
|
UTSW |
2 |
107,127,205 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0255:Kcna4
|
UTSW |
2 |
107,126,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Kcna4
|
UTSW |
2 |
107,125,927 (GRCm39) |
nonsense |
probably null |
|
|
R0761:Kcna4
|
UTSW |
2 |
107,126,417 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1211:Kcna4
|
UTSW |
2 |
107,125,660 (GRCm39) |
small deletion |
probably benign |
|
|
R1553:Kcna4
|
UTSW |
2 |
107,127,032 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1854:Kcna4
|
UTSW |
2 |
107,126,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Kcna4
|
UTSW |
2 |
107,127,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1974:Kcna4
|
UTSW |
2 |
107,126,565 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4002:Kcna4
|
UTSW |
2 |
107,126,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4163:Kcna4
|
UTSW |
2 |
107,126,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4413:Kcna4
|
UTSW |
2 |
107,125,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4474:Kcna4
|
UTSW |
2 |
107,126,352 (GRCm39) |
missense |
probably benign |
|
|
R4492:Kcna4
|
UTSW |
2 |
107,126,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4525:Kcna4
|
UTSW |
2 |
107,125,410 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4766:Kcna4
|
UTSW |
2 |
107,126,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Kcna4
|
UTSW |
2 |
107,126,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:Kcna4
|
UTSW |
2 |
107,126,151 (GRCm39) |
nonsense |
probably null |
|
|
R5725:Kcna4
|
UTSW |
2 |
107,127,221 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6381:Kcna4
|
UTSW |
2 |
107,125,317 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6787:Kcna4
|
UTSW |
2 |
107,125,670 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6891:Kcna4
|
UTSW |
2 |
107,126,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7057:Kcna4
|
UTSW |
2 |
107,125,665 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7250:Kcna4
|
UTSW |
2 |
107,126,663 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7522:Kcna4
|
UTSW |
2 |
107,126,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7799:Kcna4
|
UTSW |
2 |
107,126,237 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8758:Kcna4
|
UTSW |
2 |
107,126,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9618:Kcna4
|
UTSW |
2 |
107,126,374 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCCAAAGGCCTGCAGATC -3'
(R):5'- TGGAGCTCCGAAATTTCTTGAGC -3'
Sequencing Primer
(F):5'- CGGGAACTGGGCCTTCTTATC -3'
(R):5'- GCTCCGAAATTTCTTGAGCAAATTAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation