Incidental Mutation 'IGL02549:Kcnk13'
| ID |
297976 |
| 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 # |
IGL02549
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
99930758-100028941 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 100028010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 362
(K362*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049788]
[ENSMUST00000160413]
[ENSMUST00000177549]
|
| AlphaFold |
Q8R1P5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049788
AA Change: K362*
|
| SMART Domains |
Protein: ENSMUSP00000051846
Gene: ENSMUSG00000045404
AA Change: K362*
| 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 null
Transcript: ENSMUST00000160413
AA Change: K362*
|
| SMART Domains |
Protein: ENSMUSP00000123916
Gene: ENSMUSG00000045404
AA Change: K362*
| 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 null
Transcript: ENSMUST00000177549
AA Change: K362*
|
| SMART Domains |
Protein: ENSMUSP00000136882
Gene: ENSMUSG00000045404
AA Change: K362*
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 109,992,879 (GRCm39) |
E1595G |
probably damaging |
Het |
| Adnp2 |
G |
A |
18: 80,172,333 (GRCm39) |
A692V |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,329,993 (GRCm39) |
S321P |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,618,032 (GRCm39) |
Y1919C |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,469,481 (GRCm39) |
T1111A |
probably benign |
Het |
| Avpr1a |
A |
T |
10: 122,288,069 (GRCm39) |
H359L |
possibly damaging |
Het |
| C1rl |
A |
T |
6: 124,470,796 (GRCm39) |
I35F |
possibly damaging |
Het |
| Casp8 |
G |
A |
1: 58,872,925 (GRCm39) |
C287Y |
probably benign |
Het |
| Ccdc88c |
A |
T |
12: 100,895,191 (GRCm39) |
S1437T |
probably benign |
Het |
| Cd200r1 |
C |
T |
16: 44,610,341 (GRCm39) |
P150S |
probably damaging |
Het |
| Col2a1 |
G |
A |
15: 97,875,680 (GRCm39) |
R1202C |
unknown |
Het |
| Copb1 |
A |
T |
7: 113,846,032 (GRCm39) |
D179E |
probably benign |
Het |
| Cyp2c29 |
C |
T |
19: 39,298,229 (GRCm39) |
T258I |
possibly damaging |
Het |
| Flacc1 |
T |
C |
1: 58,698,441 (GRCm39) |
T326A |
probably benign |
Het |
| Gemin5 |
T |
C |
11: 58,025,629 (GRCm39) |
Y991C |
probably damaging |
Het |
| Gm4978 |
T |
C |
9: 69,357,641 (GRCm39) |
|
probably benign |
Het |
| Gm7732 |
A |
T |
17: 21,349,649 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2f |
T |
C |
X: 140,943,200 (GRCm39) |
I478V |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,307,183 (GRCm39) |
H1001R |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,236,662 (GRCm39) |
V1173A |
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,841,127 (GRCm39) |
T58A |
probably benign |
Het |
| Lama1 |
T |
G |
17: 68,097,830 (GRCm39) |
L1737V |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,936,200 (GRCm39) |
N625S |
probably benign |
Het |
| Loxl1 |
A |
T |
9: 58,200,921 (GRCm39) |
C514S |
probably damaging |
Het |
| Muc13 |
A |
C |
16: 33,628,339 (GRCm39) |
E363A |
probably damaging |
Het |
| Noxo1 |
G |
T |
17: 24,919,145 (GRCm39) |
G289V |
probably damaging |
Het |
| Nudt7 |
G |
T |
8: 114,878,688 (GRCm39) |
D239Y |
probably damaging |
Het |
| Polr3e |
G |
T |
7: 120,538,982 (GRCm39) |
V407F |
probably damaging |
Het |
| Pou5f2 |
T |
A |
13: 78,173,709 (GRCm39) |
L217Q |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,320,094 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
A |
C |
17: 26,213,294 (GRCm39) |
N793K |
probably damaging |
Het |
| Ranbp3l |
A |
G |
15: 8,997,925 (GRCm39) |
R6G |
possibly damaging |
Het |
| Slco1a6 |
T |
A |
6: 142,042,141 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
G |
6: 48,428,707 (GRCm39) |
E374G |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,711,210 (GRCm39) |
Y991H |
probably damaging |
Het |
| Tnc |
A |
G |
4: 63,933,309 (GRCm39) |
Y652H |
probably damaging |
Het |
| Trpc4 |
G |
A |
3: 54,129,770 (GRCm39) |
V179I |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,343,446 (GRCm39) |
T1896A |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,527,141 (GRCm39) |
Y1013H |
probably damaging |
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 |
|
IGL01829:Kcnk13
|
APN |
12 |
100,027,257 (GRCm39) |
splice site |
probably benign |
|
|
IGL01940:Kcnk13
|
APN |
12 |
100,027,683 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2015-04-16 |
Incidental Mutation