Incidental Mutation 'R3017:Kcnk4'
| ID |
257679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnk4
|
| Ensembl Gene |
ENSMUSG00000024957 |
| Gene Name |
potassium channel, subfamily K, member 4 |
| Synonyms |
TRAAKt |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3017 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6903030-6912261 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6905162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 163
(V163E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025908]
[ENSMUST00000057716]
|
| AlphaFold |
O88454 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025908
AA Change: V163E
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025908
Gene: ENSMUSG00000024957
AA Change: V163E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
2 |
147 |
8.1e-9 |
PFAM |
|
Pfam:Ion_trans_2
|
64 |
145 |
1.7e-21 |
PFAM |
|
Pfam:Ion_trans_2
|
174 |
260 |
5.3e-22 |
PFAM |
|
low complexity region
|
303 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
390 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057716
|
| SMART Domains |
Protein: ENSMUSP00000056681
Gene: ENSMUSG00000050623
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
146 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit normal sensitivity to pharmacologically induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
T |
C |
1: 58,274,363 (GRCm39) |
V383A |
probably benign |
Het |
| Aplp1 |
A |
T |
7: 30,135,396 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Gmnc |
G |
A |
16: 26,779,165 (GRCm39) |
H281Y |
probably benign |
Het |
| Gusb |
T |
C |
5: 130,029,325 (GRCm39) |
D152G |
probably damaging |
Het |
| Lcmt1 |
T |
G |
7: 123,029,359 (GRCm39) |
L327W |
probably damaging |
Het |
| Med18 |
G |
A |
4: 132,187,128 (GRCm39) |
R124C |
probably damaging |
Het |
| Odf1 |
A |
G |
15: 38,226,675 (GRCm39) |
T192A |
unknown |
Het |
| Pitpna |
C |
T |
11: 75,483,016 (GRCm39) |
R8W |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,396,799 (GRCm39) |
Y951H |
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,658,327 (GRCm39) |
T193A |
possibly damaging |
Het |
| Ruvbl2 |
G |
T |
7: 45,071,588 (GRCm39) |
L432I |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,758,396 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
T |
A |
14: 50,600,178 (GRCm39) |
C721* |
probably null |
Het |
| Tubgcp6 |
A |
T |
15: 88,987,285 (GRCm39) |
C1229* |
probably null |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Kcnk4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01569:Kcnk4
|
APN |
19 |
6,904,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02047:Kcnk4
|
APN |
19 |
6,903,626 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02726:Kcnk4
|
APN |
19 |
6,904,457 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0149:Kcnk4
|
UTSW |
19 |
6,903,562 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0617:Kcnk4
|
UTSW |
19 |
6,905,528 (GRCm39) |
unclassified |
probably benign |
|
|
R1392:Kcnk4
|
UTSW |
19 |
6,905,031 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1392:Kcnk4
|
UTSW |
19 |
6,905,031 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4439:Kcnk4
|
UTSW |
19 |
6,910,129 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4895:Kcnk4
|
UTSW |
19 |
6,905,784 (GRCm39) |
splice site |
probably null |
|
|
R5208:Kcnk4
|
UTSW |
19 |
6,905,069 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5409:Kcnk4
|
UTSW |
19 |
6,903,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5743:Kcnk4
|
UTSW |
19 |
6,905,723 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6233:Kcnk4
|
UTSW |
19 |
6,905,697 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6466:Kcnk4
|
UTSW |
19 |
6,905,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7358:Kcnk4
|
UTSW |
19 |
6,903,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8040:Kcnk4
|
UTSW |
19 |
6,904,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Kcnk4
|
UTSW |
19 |
6,903,668 (GRCm39) |
missense |
probably benign |
|
|
R8437:Kcnk4
|
UTSW |
19 |
6,903,602 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8444:Kcnk4
|
UTSW |
19 |
6,903,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Kcnk4
|
UTSW |
19 |
6,905,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCACCGGGTACATAATCGC -3'
(R):5'- ATCGAAGCAATCTTCTTGGTGAG -3'
Sequencing Primer
(F):5'- TCGCCAAAGCCTACAGTGGTG -3'
(R):5'- GCAATCTTCTTGGTGAGCTGCAC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation