Incidental Mutation 'R6598:Kcnj8'
ID |
525041 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnj8
|
Ensembl Gene |
ENSMUSG00000030247 |
Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 8 |
Synonyms |
slmbr, gnite, Kir6.1, sltr |
MMRRC Submission |
044722-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6598 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142510563-142517340 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 142515959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 49
(N49K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145440
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032374]
[ENSMUST00000203945]
|
AlphaFold |
P97794 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032374
AA Change: N49K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032374 Gene: ENSMUSG00000030247 AA Change: N49K
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: N49K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145440 Gene: ENSMUSG00000030247 AA Change: N49K
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
37 |
371 |
2.3e-141 |
PFAM |
low complexity region
|
378 |
404 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.8064 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (43/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
A |
T |
14: 56,007,502 (GRCm39) |
S943T |
probably benign |
Het |
Adgrv1 |
T |
G |
13: 81,654,298 (GRCm39) |
E2911A |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,430,896 (GRCm39) |
F819S |
probably damaging |
Het |
Cald1 |
G |
A |
6: 34,723,575 (GRCm39) |
|
probably null |
Het |
Clca3a2 |
G |
T |
3: 144,792,246 (GRCm39) |
Y338* |
probably null |
Het |
Cmya5 |
C |
T |
13: 93,226,316 (GRCm39) |
G2924D |
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,877,611 (GRCm39) |
L2122Q |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,909,161 (GRCm39) |
F1258S |
probably benign |
Het |
Ddx39a |
T |
C |
8: 84,449,556 (GRCm39) |
V387A |
probably benign |
Het |
Dscam |
A |
G |
16: 96,620,984 (GRCm39) |
C575R |
probably damaging |
Het |
Dyrk4 |
C |
T |
6: 126,853,289 (GRCm39) |
V632M |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,609,902 (GRCm39) |
S111P |
possibly damaging |
Het |
Fbxo40 |
A |
T |
16: 36,789,376 (GRCm39) |
L578Q |
probably damaging |
Het |
Frem1 |
A |
T |
4: 82,932,065 (GRCm39) |
F212Y |
probably damaging |
Het |
Golm2 |
A |
T |
2: 121,763,966 (GRCm39) |
E247D |
probably damaging |
Het |
Golm2 |
G |
A |
2: 121,763,967 (GRCm39) |
E383K |
probably damaging |
Het |
Icos |
T |
G |
1: 61,033,856 (GRCm39) |
I162S |
possibly damaging |
Het |
Ldhb |
A |
T |
6: 142,436,326 (GRCm39) |
M281K |
possibly damaging |
Het |
Med17 |
T |
C |
9: 15,182,996 (GRCm39) |
K350E |
probably benign |
Het |
Mpo |
A |
T |
11: 87,690,798 (GRCm39) |
N412I |
probably benign |
Het |
Mrps24 |
A |
T |
11: 5,654,713 (GRCm39) |
D80E |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,153,516 (GRCm39) |
D134G |
probably damaging |
Het |
Ndufs1 |
T |
C |
1: 63,204,109 (GRCm39) |
Q140R |
probably null |
Het |
Nsd1 |
T |
C |
13: 55,441,515 (GRCm39) |
V1662A |
possibly damaging |
Het |
Or10ag53 |
C |
T |
2: 87,083,100 (GRCm39) |
T273I |
probably damaging |
Het |
Or5p51 |
G |
A |
7: 107,444,470 (GRCm39) |
L157F |
probably benign |
Het |
Or6c88 |
C |
A |
10: 129,407,238 (GRCm39) |
T238N |
probably damaging |
Het |
Polq |
G |
A |
16: 36,881,993 (GRCm39) |
A1386T |
probably benign |
Het |
Ppil1 |
C |
A |
17: 29,480,852 (GRCm39) |
V24F |
probably benign |
Het |
Prim1 |
G |
T |
10: 127,856,049 (GRCm39) |
V165L |
possibly damaging |
Het |
Slc12a2 |
G |
A |
18: 58,031,145 (GRCm39) |
V317I |
probably benign |
Het |
Tbpl1 |
A |
G |
10: 22,583,748 (GRCm39) |
V103A |
probably damaging |
Het |
Tmprss11c |
C |
T |
5: 86,437,092 (GRCm39) |
E10K |
probably benign |
Het |
Unc80 |
T |
G |
1: 66,507,699 (GRCm39) |
|
probably null |
Het |
Uqcrc1 |
G |
T |
9: 108,776,690 (GRCm39) |
V30F |
possibly damaging |
Het |
Vmn1r88 |
T |
C |
7: 12,912,150 (GRCm39) |
Y169H |
probably damaging |
Het |
Zan |
A |
T |
5: 137,404,626 (GRCm39) |
|
probably benign |
Het |
Zc3h13 |
A |
G |
14: 75,569,623 (GRCm39) |
D1490G |
probably damaging |
Het |
Zer1 |
T |
A |
2: 30,003,286 (GRCm39) |
S44C |
probably damaging |
Het |
Zfp106 |
T |
A |
2: 120,365,541 (GRCm39) |
K289* |
probably null |
Het |
Zfp618 |
A |
G |
4: 63,007,636 (GRCm39) |
Y155C |
probably damaging |
Het |
Zfp979 |
A |
G |
4: 147,698,223 (GRCm39) |
L162P |
probably damaging |
Het |
|
Other mutations in Kcnj8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00337:Kcnj8
|
APN |
6 |
142,515,961 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGTAAGCATAGATGTCCCCG -3'
(R):5'- CGTTTCTCTAGTCTAGGAGGACG -3'
Sequencing Primer
(F):5'- ATAGATGTCCCCGTGGGC -3'
(R):5'- TTCAGGCAGGTGCATAGGC -3'
|
Posted On |
2018-06-22 |