Incidental Mutation 'IGL00337:Kcnj8'
ID |
5348 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kcnj8
|
Ensembl Gene |
ENSMUSG00000030247 |
Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 8 |
Synonyms |
slmbr, gnite, Kir6.1, sltr |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00337
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
142510563-142517340 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142515961 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 49
(N49D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032374
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032374]
[ENSMUST00000203945]
|
AlphaFold |
P97794 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032374
AA Change: N49D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032374 Gene: ENSMUSG00000030247 AA Change: N49D
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
37 |
371 |
2.3e-141 |
PFAM |
low complexity region
|
378 |
404 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000203945
AA Change: N49D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000145440 Gene: ENSMUSG00000030247 AA Change: N49D
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
37 |
371 |
2.3e-141 |
PFAM |
low complexity region
|
378 |
404 |
N/A |
INTRINSIC |
|
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. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012] PHENOTYPE: Mice homozygous for a targeted null mutation exhibit sudden cardiac death due to dysregulation of the vascular tonus in the coronary arteries, and exhibit a phenotype resembling Prinzmetal (or variant) angina in humans. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap1ar |
A |
T |
3: 127,614,401 (GRCm39) |
|
probably benign |
Het |
Ap1ar |
A |
C |
3: 127,614,400 (GRCm39) |
|
probably benign |
Het |
Apip |
A |
T |
2: 102,922,257 (GRCm39) |
T208S |
probably benign |
Het |
Arhgap11a |
A |
G |
2: 113,672,287 (GRCm39) |
V227A |
probably damaging |
Het |
Atrn |
G |
T |
2: 130,799,999 (GRCm39) |
V459F |
probably damaging |
Het |
Cep295 |
T |
C |
9: 15,237,368 (GRCm39) |
|
probably null |
Het |
Cfhr1 |
A |
G |
1: 139,484,253 (GRCm39) |
|
probably benign |
Het |
D5Ertd615e |
A |
G |
5: 45,320,769 (GRCm39) |
|
noncoding transcript |
Het |
Dhx29 |
A |
G |
13: 113,101,137 (GRCm39) |
I1227V |
probably benign |
Het |
Fam98a |
T |
C |
17: 75,858,742 (GRCm39) |
D16G |
probably damaging |
Het |
Frk |
A |
G |
10: 34,360,239 (GRCm39) |
D80G |
probably damaging |
Het |
Gabbr2 |
A |
T |
4: 46,787,600 (GRCm39) |
H354Q |
probably damaging |
Het |
Ggps1 |
G |
A |
13: 14,228,973 (GRCm39) |
S70L |
probably damaging |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Hpx |
T |
C |
7: 105,240,977 (GRCm39) |
Y432C |
probably damaging |
Het |
Hyal2 |
T |
C |
9: 107,449,371 (GRCm39) |
C376R |
probably damaging |
Het |
Il10rb |
G |
A |
16: 91,203,227 (GRCm39) |
A8T |
probably benign |
Het |
Ing5 |
G |
T |
1: 93,733,816 (GRCm39) |
M1I |
probably null |
Het |
Kcnc4 |
C |
T |
3: 107,355,189 (GRCm39) |
D420N |
probably benign |
Het |
Kif26b |
C |
A |
1: 178,743,213 (GRCm39) |
A656D |
probably damaging |
Het |
Klc4 |
T |
C |
17: 46,946,361 (GRCm39) |
E488G |
probably damaging |
Het |
Mtmr4 |
C |
T |
11: 87,502,750 (GRCm39) |
H878Y |
probably benign |
Het |
Ndufaf7 |
T |
C |
17: 79,254,520 (GRCm39) |
|
probably benign |
Het |
Nlrp14 |
T |
G |
7: 106,781,308 (GRCm39) |
D168E |
possibly damaging |
Het |
Ogdhl |
T |
C |
14: 32,055,669 (GRCm39) |
F251S |
probably damaging |
Het |
Or1p1 |
T |
C |
11: 74,180,213 (GRCm39) |
V247A |
probably damaging |
Het |
P2rx5 |
A |
T |
11: 73,058,318 (GRCm39) |
|
probably null |
Het |
Parp14 |
G |
A |
16: 35,661,445 (GRCm39) |
T1501I |
probably benign |
Het |
Prl3c1 |
C |
A |
13: 27,384,746 (GRCm39) |
T85K |
probably damaging |
Het |
Psg27 |
A |
G |
7: 18,295,729 (GRCm39) |
Y239H |
probably damaging |
Het |
Pzp |
T |
C |
6: 128,493,872 (GRCm39) |
R300G |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,329,499 (GRCm39) |
S839P |
probably benign |
Het |
Sphkap |
T |
A |
1: 83,317,329 (GRCm39) |
D56V |
probably damaging |
Het |
Srrt |
C |
T |
5: 137,294,240 (GRCm39) |
|
probably benign |
Het |
Sstr3 |
T |
A |
15: 78,424,667 (GRCm39) |
T27S |
probably benign |
Het |
Taf1d |
C |
A |
9: 15,222,899 (GRCm39) |
S255Y |
probably damaging |
Het |
Tbc1d15 |
C |
A |
10: 115,045,546 (GRCm39) |
E473* |
probably null |
Het |
Tmem247 |
T |
C |
17: 87,224,963 (GRCm39) |
V24A |
probably benign |
Het |
Txnrd2 |
T |
C |
16: 18,296,519 (GRCm39) |
C494R |
probably damaging |
Het |
Zfp180 |
A |
G |
7: 23,784,894 (GRCm39) |
D5G |
probably damaging |
Het |
|
Other mutations in Kcnj8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02303:Kcnj8
|
APN |
6 |
142,515,837 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03026:Kcnj8
|
APN |
6 |
142,512,199 (GRCm39) |
critical splice acceptor site |
probably null |
|
goodnight
|
UTSW |
6 |
0 () |
large deletion |
|
|
mayday
|
UTSW |
6 |
0 () |
large deletion |
|
|
slumber
|
UTSW |
6 |
0 () |
large deletion |
|
|
solitaire
|
UTSW |
6 |
0 () |
large deletion |
|
|
sos
|
UTSW |
6 |
142,511,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R0278:Kcnj8
|
UTSW |
6 |
142,516,074 (GRCm39) |
missense |
probably benign |
0.12 |
R0927:Kcnj8
|
UTSW |
6 |
142,511,627 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1680:Kcnj8
|
UTSW |
6 |
142,515,915 (GRCm39) |
nonsense |
probably null |
|
R1864:Kcnj8
|
UTSW |
6 |
142,515,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R1865:Kcnj8
|
UTSW |
6 |
142,515,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R2087:Kcnj8
|
UTSW |
6 |
142,511,422 (GRCm39) |
missense |
probably benign |
0.02 |
R4900:Kcnj8
|
UTSW |
6 |
142,512,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R5863:Kcnj8
|
UTSW |
6 |
142,511,414 (GRCm39) |
missense |
probably benign |
0.02 |
R6493:Kcnj8
|
UTSW |
6 |
142,511,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R6598:Kcnj8
|
UTSW |
6 |
142,515,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R7068:Kcnj8
|
UTSW |
6 |
142,511,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R7587:Kcnj8
|
UTSW |
6 |
142,512,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R7698:Kcnj8
|
UTSW |
6 |
142,511,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R7908:Kcnj8
|
UTSW |
6 |
142,511,755 (GRCm39) |
missense |
probably benign |
0.44 |
R9199:Kcnj8
|
UTSW |
6 |
142,512,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R9757:Kcnj8
|
UTSW |
6 |
142,515,805 (GRCm39) |
missense |
probably benign |
0.00 |
X0018:Kcnj8
|
UTSW |
6 |
142,511,640 (GRCm39) |
missense |
probably benign |
0.17 |
X0020:Kcnj8
|
UTSW |
6 |
142,511,640 (GRCm39) |
missense |
probably benign |
0.17 |
X0026:Kcnj8
|
UTSW |
6 |
142,511,640 (GRCm39) |
missense |
probably benign |
0.17 |
X0027:Kcnj8
|
UTSW |
6 |
142,511,640 (GRCm39) |
missense |
probably benign |
0.17 |
X0061:Kcnj8
|
UTSW |
6 |
142,515,846 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Kcnj8
|
UTSW |
6 |
142,511,640 (GRCm39) |
missense |
probably benign |
0.17 |
|
Posted On |
2012-04-20 |