Incidental Mutation 'IGL02094:Kcnj9'
| ID |
279526 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnj9
|
| Ensembl Gene |
ENSMUSG00000038026 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 9 |
| Synonyms |
1700085N21Rik, Kir3.3, Girk3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02094
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
172148075-172156889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 172153275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 283
(T283K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062387]
[ENSMUST00000194204]
|
| AlphaFold |
P48543 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062387
AA Change: T283K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060110
Gene: ENSMUSG00000038026
AA Change: T283K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
Pfam:IRK
|
25 |
350 |
3.1e-142 |
PFAM |
|
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192957
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194204
AA Change: T283K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141633
Gene: ENSMUSG00000038026
AA Change: T283K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
Pfam:IRK
|
25 |
361 |
7.4e-165 |
PFAM |
|
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194860
|
| 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 are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inactivation of this locus does not result in any overt phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
C |
8: 56,324,480 (GRCm39) |
N658S |
possibly damaging |
Het |
| Adcy10 |
T |
C |
1: 165,398,189 (GRCm39) |
Y1429H |
probably damaging |
Het |
| Aebp1 |
G |
A |
11: 5,818,357 (GRCm39) |
M98I |
probably benign |
Het |
| Arl3 |
T |
C |
19: 46,546,780 (GRCm39) |
D15G |
probably benign |
Het |
| Casp2 |
T |
A |
6: 42,257,293 (GRCm39) |
I414N |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,173,968 (GRCm39) |
D229G |
probably damaging |
Het |
| Cog7 |
G |
T |
7: 121,562,470 (GRCm39) |
A234E |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,041,631 (GRCm39) |
T392S |
probably benign |
Het |
| Ebf2 |
G |
A |
14: 67,472,689 (GRCm39) |
V36M |
possibly damaging |
Het |
| Fbxw15 |
A |
C |
9: 109,387,308 (GRCm39) |
V229G |
possibly damaging |
Het |
| Got1l1 |
A |
G |
8: 27,689,873 (GRCm39) |
V171A |
probably benign |
Het |
| Itgax |
A |
G |
7: 127,730,645 (GRCm39) |
Y121C |
probably damaging |
Het |
| Kcng4 |
C |
A |
8: 120,359,960 (GRCm39) |
A139S |
probably damaging |
Het |
| Mgl2 |
T |
A |
11: 70,027,923 (GRCm39) |
I377K |
possibly damaging |
Het |
| Myo15a |
T |
C |
11: 60,401,473 (GRCm39) |
|
probably benign |
Het |
| Nod1 |
A |
T |
6: 54,916,375 (GRCm39) |
|
probably null |
Het |
| Nr1h5 |
A |
T |
3: 102,859,512 (GRCm39) |
C182* |
probably null |
Het |
| Nup210l |
G |
T |
3: 90,087,520 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
G |
A |
3: 119,546,589 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
T |
G |
5: 103,742,483 (GRCm39) |
F2401V |
probably damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,596,485 (GRCm39) |
S676P |
probably damaging |
Het |
| Recql4 |
T |
A |
15: 76,593,717 (GRCm39) |
Q131L |
probably benign |
Het |
| Sbno2 |
G |
A |
10: 79,893,479 (GRCm39) |
P1274L |
probably benign |
Het |
| Sec24c |
T |
C |
14: 20,738,470 (GRCm39) |
V341A |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,982,092 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,050,659 (GRCm39) |
H2310R |
probably benign |
Het |
| Tas2r109 |
T |
A |
6: 132,957,202 (GRCm39) |
I243F |
possibly damaging |
Het |
| Trpc1 |
A |
C |
9: 95,625,334 (GRCm39) |
D97E |
probably damaging |
Het |
| Trpm2 |
G |
A |
10: 77,778,830 (GRCm39) |
Q379* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,649,167 (GRCm39) |
|
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,610,669 (GRCm39) |
F8I |
probably benign |
Het |
| Zfp36 |
C |
T |
7: 28,077,188 (GRCm39) |
S240N |
probably benign |
Het |
| Zfp65 |
A |
G |
13: 67,856,304 (GRCm39) |
I325T |
possibly damaging |
Het |
|
| Other mutations in Kcnj9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02616:Kcnj9
|
APN |
1 |
172,153,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Kcnj9
|
UTSW |
1 |
172,153,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0131:Kcnj9
|
UTSW |
1 |
172,153,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0132:Kcnj9
|
UTSW |
1 |
172,153,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0505:Kcnj9
|
UTSW |
1 |
172,150,591 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0591:Kcnj9
|
UTSW |
1 |
172,150,665 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0726:Kcnj9
|
UTSW |
1 |
172,153,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1178:Kcnj9
|
UTSW |
1 |
172,150,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1485:Kcnj9
|
UTSW |
1 |
172,153,929 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1989:Kcnj9
|
UTSW |
1 |
172,153,716 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5165:Kcnj9
|
UTSW |
1 |
172,150,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6245:Kcnj9
|
UTSW |
1 |
172,153,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6344:Kcnj9
|
UTSW |
1 |
172,153,713 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6903:Kcnj9
|
UTSW |
1 |
172,153,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7309:Kcnj9
|
UTSW |
1 |
172,153,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8043:Kcnj9
|
UTSW |
1 |
172,153,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8251:Kcnj9
|
UTSW |
1 |
172,154,089 (GRCm39) |
missense |
probably benign |
|
|
R8682:Kcnj9
|
UTSW |
1 |
172,153,680 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8896:Kcnj9
|
UTSW |
1 |
172,153,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9380:Kcnj9
|
UTSW |
1 |
172,153,447 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9775:Kcnj9
|
UTSW |
1 |
172,153,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnj9
|
UTSW |
1 |
172,150,750 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Posted On |
2015-04-16 |
Incidental Mutation