Incidental Mutation 'IGL01829:Kcnk13'
| ID |
154739 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnk13
|
| Ensembl Gene |
ENSMUSG00000045404 |
| Gene Name |
potassium channel, subfamily K, member 13 |
| Synonyms |
THIK-1, F730021E22Rik, LOC380778, LOC381712 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01829
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
99930758-100028941 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 100027257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049788]
[ENSMUST00000160413]
[ENSMUST00000177549]
|
| AlphaFold |
Q8R1P5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049788
|
| SMART Domains |
Protein: ENSMUSP00000051846
Gene: ENSMUSG00000045404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
75 |
151 |
4.7e-18 |
PFAM |
|
Pfam:Ion_trans_2
|
195 |
285 |
3.3e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160413
|
| SMART Domains |
Protein: ENSMUSP00000123916
Gene: ENSMUSG00000045404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
74 |
151 |
6e-17 |
PFAM |
|
Pfam:Ion_trans_2
|
195 |
285 |
7.9e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177549
|
| SMART Domains |
Protein: ENSMUSP00000136882
Gene: ENSMUSG00000045404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
75 |
151 |
4.7e-18 |
PFAM |
|
Pfam:Ion_trans_2
|
195 |
285 |
3.3e-18 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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. This gene encodes a potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous knockout reduces the surveillance activity of microglial cells in the brain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bod1l |
A |
G |
5: 41,977,811 (GRCm39) |
S1168P |
probably benign |
Het |
| Csn1s2a |
A |
T |
5: 87,934,569 (GRCm39) |
T173S |
unknown |
Het |
| Dchs1 |
T |
A |
7: 105,404,604 (GRCm39) |
D2646V |
probably damaging |
Het |
| Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
| Dnah7a |
G |
T |
1: 53,657,227 (GRCm39) |
R850S |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,596,668 (GRCm39) |
D396G |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,614,955 (GRCm39) |
Y553C |
probably benign |
Het |
| Elf2 |
A |
G |
3: 51,215,521 (GRCm39) |
M63T |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,316,154 (GRCm39) |
T4349P |
possibly damaging |
Het |
| Nr1h5 |
T |
A |
3: 102,856,395 (GRCm39) |
I295L |
probably benign |
Het |
| Or9s23 |
A |
T |
1: 92,501,051 (GRCm39) |
I53F |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,449,383 (GRCm39) |
H986R |
probably damaging |
Het |
| Rufy1 |
T |
A |
11: 50,307,071 (GRCm39) |
R300* |
probably null |
Het |
| Sfxn4 |
C |
A |
19: 60,847,172 (GRCm39) |
S37I |
probably damaging |
Het |
| Slc12a9 |
A |
T |
5: 137,325,627 (GRCm39) |
|
probably benign |
Het |
| Slc37a1 |
T |
C |
17: 31,541,180 (GRCm39) |
I224T |
possibly damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,712,170 (GRCm39) |
F233S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,536,927 (GRCm39) |
K4233E |
possibly damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,046,377 (GRCm39) |
M1141K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,612,011 (GRCm39) |
D17297G |
probably damaging |
Het |
| Vmn1r12 |
T |
C |
6: 57,136,649 (GRCm39) |
Y205H |
probably damaging |
Het |
| Vmn1r77 |
A |
G |
7: 11,775,358 (GRCm39) |
K45E |
probably damaging |
Het |
| Vmn2r129 |
T |
C |
4: 156,685,614 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13a |
T |
C |
19: 16,596,807 (GRCm39) |
T3104A |
probably benign |
Het |
|
| Other mutations in Kcnk13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01394:Kcnk13
|
APN |
12 |
100,027,921 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01940:Kcnk13
|
APN |
12 |
100,027,683 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02549:Kcnk13
|
APN |
12 |
100,028,010 (GRCm39) |
nonsense |
probably null |
|
|
IGL03105:Kcnk13
|
APN |
12 |
100,027,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4730:Kcnk13
|
UTSW |
12 |
100,027,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4851:Kcnk13
|
UTSW |
12 |
99,932,383 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5284:Kcnk13
|
UTSW |
12 |
100,027,548 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5411:Kcnk13
|
UTSW |
12 |
100,027,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6254:Kcnk13
|
UTSW |
12 |
99,931,631 (GRCm39) |
start gained |
probably benign |
|
|
R6836:Kcnk13
|
UTSW |
12 |
100,027,948 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6862:Kcnk13
|
UTSW |
12 |
100,027,948 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6863:Kcnk13
|
UTSW |
12 |
100,027,948 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6897:Kcnk13
|
UTSW |
12 |
100,028,026 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7211:Kcnk13
|
UTSW |
12 |
100,028,076 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7438:Kcnk13
|
UTSW |
12 |
100,027,985 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8031:Kcnk13
|
UTSW |
12 |
99,932,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8813:Kcnk13
|
UTSW |
12 |
100,027,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnk13
|
UTSW |
12 |
100,027,788 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2014-02-04 |
Incidental Mutation