Incidental Mutation 'R5863:Kcnj8'
| ID |
454007 |
| 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 |
043232-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
142510563-142517340 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142511414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 398
(I398F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032374]
[ENSMUST00000203945]
|
| AlphaFold |
P97794 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032374
|
| SMART Domains |
Protein: ENSMUSP00000032374
Gene: ENSMUSG00000030247
| 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 benign
Transcript: ENSMUST00000203945
AA Change: I398F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000145440
Gene: ENSMUSG00000030247
AA Change: I398F
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.4%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,580,287 (GRCm39) |
I204T |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,786,575 (GRCm39) |
I136V |
probably benign |
Het |
| Adam6a |
T |
C |
12: 113,507,987 (GRCm39) |
I120T |
probably benign |
Het |
| Add3 |
C |
A |
19: 53,222,301 (GRCm39) |
L303I |
probably benign |
Het |
| Anln |
A |
G |
9: 22,249,280 (GRCm39) |
L149P |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,926 (GRCm39) |
E394G |
unknown |
Het |
| Asns |
G |
A |
6: 7,675,443 (GRCm39) |
Q520* |
probably null |
Het |
| Auh |
T |
G |
13: 53,052,694 (GRCm39) |
N141T |
probably benign |
Het |
| B3galt2 |
G |
A |
1: 143,522,104 (GRCm39) |
R80Q |
probably benign |
Het |
| Bcl9 |
T |
C |
3: 97,117,666 (GRCm39) |
T343A |
probably benign |
Het |
| C3 |
T |
A |
17: 57,530,141 (GRCm39) |
I487F |
probably benign |
Het |
| Cast |
T |
C |
13: 74,884,875 (GRCm39) |
K326E |
probably damaging |
Het |
| Ccdc185 |
T |
A |
1: 182,576,122 (GRCm39) |
H189L |
possibly damaging |
Het |
| Cep112 |
A |
G |
11: 108,497,058 (GRCm39) |
E51G |
probably damaging |
Het |
| Cpvl |
G |
A |
6: 53,850,413 (GRCm39) |
P475S |
probably damaging |
Het |
| Cstf2t |
G |
T |
19: 31,060,477 (GRCm39) |
L4F |
probably damaging |
Het |
| Dido1 |
A |
G |
2: 180,303,566 (GRCm39) |
V1446A |
probably benign |
Het |
| Dlg2 |
T |
A |
7: 91,360,987 (GRCm39) |
M35K |
probably benign |
Het |
| Dnah12 |
C |
T |
14: 26,576,878 (GRCm39) |
L3043F |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,053,863 (GRCm39) |
S1225P |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,258,810 (GRCm39) |
F1443S |
probably benign |
Het |
| Flacc1 |
G |
T |
1: 58,730,908 (GRCm39) |
H49Q |
probably benign |
Het |
| Gm14226 |
C |
A |
2: 154,866,211 (GRCm39) |
T56N |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,881,748 (GRCm39) |
R766W |
probably damaging |
Het |
| Khdrbs1 |
G |
A |
4: 129,616,493 (GRCm39) |
R284C |
probably damaging |
Het |
| Nog |
A |
G |
11: 89,192,356 (GRCm39) |
L164P |
probably damaging |
Het |
| Or13a18 |
G |
A |
7: 140,190,544 (GRCm39) |
G155D |
probably damaging |
Het |
| Or8c20 |
T |
C |
9: 38,261,083 (GRCm39) |
S235P |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,590,434 (GRCm39) |
Q1771L |
possibly damaging |
Het |
| Prl3c1 |
T |
A |
13: 27,387,593 (GRCm39) |
*193K |
probably null |
Het |
| Prpf4b |
T |
A |
13: 35,083,111 (GRCm39) |
I829N |
possibly damaging |
Het |
| Rassf1 |
C |
T |
9: 107,435,023 (GRCm39) |
P103S |
probably damaging |
Het |
| Rdh16f2 |
A |
C |
10: 127,712,256 (GRCm39) |
I238L |
probably benign |
Het |
| Sdk2 |
G |
T |
11: 113,725,810 (GRCm39) |
D1146E |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,848,779 (GRCm39) |
F412L |
probably benign |
Het |
| Slc24a1 |
T |
C |
9: 64,835,824 (GRCm39) |
T768A |
unknown |
Het |
| Stk32a |
A |
G |
18: 43,448,209 (GRCm39) |
N396S |
probably benign |
Het |
| Ston1 |
T |
C |
17: 88,943,373 (GRCm39) |
S260P |
possibly damaging |
Het |
| Tmem135 |
A |
G |
7: 88,797,176 (GRCm39) |
|
probably null |
Het |
| Tmem30c |
A |
G |
16: 57,090,418 (GRCm39) |
V263A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,587,102 (GRCm39) |
T21632S |
probably damaging |
Het |
| Ube2w |
A |
G |
1: 16,655,531 (GRCm39) |
I141T |
probably damaging |
Het |
| Zbtb47 |
A |
G |
9: 121,596,596 (GRCm39) |
S651G |
probably benign |
Het |
| Zscan20 |
A |
T |
4: 128,480,141 (GRCm39) |
C783* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGATTGTCTCTCAGTCATCAG -3'
(R):5'- CACCGCTTCGTGTCAATTGTG -3'
Sequencing Primer
(F):5'- TCAGGACACAGTGACTGTTC -3'
(R):5'- GCGTGTACTCTGTGGACTATTCC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation