Incidental Mutation 'R9757:Kcnj8'
| ID |
732794 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9757 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
142510563-142517340 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142515805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 101
(I101F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032374]
[ENSMUST00000203945]
|
| AlphaFold |
P97794 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032374
AA Change: I101F
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000032374
Gene: ENSMUSG00000030247
AA Change: I101F
| 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: I101F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000145440
Gene: ENSMUSG00000030247
AA Change: I101F
| 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: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
C |
5: 81,613,086 (GRCm39) |
V105A |
probably benign |
Het |
| Agrn |
C |
A |
4: 156,261,235 (GRCm39) |
V621L |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,517,676 (GRCm39) |
S323P |
probably damaging |
Het |
| Anxa6 |
T |
A |
11: 54,885,182 (GRCm39) |
K456* |
probably null |
Het |
| C7 |
G |
T |
15: 5,075,134 (GRCm39) |
T186K |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,609,113 (GRCm39) |
E396G |
probably damaging |
Het |
| Ccdc191 |
C |
T |
16: 43,762,170 (GRCm39) |
T20I |
|
Het |
| Ces1b |
G |
T |
8: 93,806,501 (GRCm39) |
P15Q |
probably benign |
Het |
| Dnah14 |
G |
T |
1: 181,513,349 (GRCm39) |
A1901S |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,901,035 (GRCm39) |
H310R |
possibly damaging |
Het |
| Eif2ak4 |
T |
G |
2: 118,269,398 (GRCm39) |
S23R |
probably benign |
Het |
| Gli2 |
A |
G |
1: 118,773,652 (GRCm39) |
C485R |
probably damaging |
Het |
| Gm17093 |
T |
A |
14: 44,758,990 (GRCm39) |
W171R |
|
Het |
| Ing2 |
G |
A |
8: 48,128,075 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
T |
C |
1: 180,160,372 (GRCm39) |
I166T |
probably benign |
Het |
| Krtap6-2 |
C |
T |
16: 89,216,958 (GRCm39) |
C3Y |
unknown |
Het |
| Lep |
A |
G |
6: 29,069,083 (GRCm39) |
I45V |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,695,229 (GRCm39) |
I2355L |
probably benign |
Het |
| Mettl3 |
C |
A |
14: 52,537,361 (GRCm39) |
A174S |
probably benign |
Het |
| Mmp23 |
T |
C |
4: 155,735,515 (GRCm39) |
N317S |
probably damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,372,257 (GRCm39) |
V777E |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,782,617 (GRCm39) |
C844S |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,892,338 (GRCm39) |
E6823G |
probably benign |
Het |
| Or6y1 |
A |
T |
1: 174,276,866 (GRCm39) |
I226F |
probably damaging |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,302 (GRCm39) |
Q751L |
probably benign |
Het |
| Pdgfrl |
T |
A |
8: 41,379,454 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Pdzph1 |
A |
C |
17: 59,281,898 (GRCm39) |
L128* |
probably null |
Het |
| Pramel24 |
A |
G |
4: 143,454,992 (GRCm39) |
D430G |
probably benign |
Het |
| Prr36 |
A |
T |
8: 4,260,998 (GRCm39) |
S940T |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,595,120 (GRCm39) |
I279N |
probably damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,807,719 (GRCm39) |
T259S |
probably damaging |
Het |
| Rrn3 |
T |
A |
16: 13,628,433 (GRCm39) |
I538N |
probably damaging |
Het |
| Sdf2l1 |
A |
T |
16: 16,948,398 (GRCm39) |
D213E |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,711,363 (GRCm39) |
Y643H |
probably damaging |
Het |
| Sval2 |
G |
T |
6: 41,838,774 (GRCm39) |
C4F |
possibly damaging |
Het |
| Taldo1 |
A |
G |
7: 140,980,263 (GRCm39) |
E131G |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,607,296 (GRCm39) |
I166M |
probably benign |
Het |
| Tmem178 |
A |
G |
17: 81,308,289 (GRCm39) |
Y228C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,612,423 (GRCm39) |
L17188* |
probably null |
Het |
| Unc45b |
A |
G |
11: 82,810,558 (GRCm39) |
K273E |
probably damaging |
Het |
| Usp32 |
A |
C |
11: 84,968,155 (GRCm39) |
Y169* |
probably null |
Het |
| Vmn2r9 |
A |
T |
5: 108,995,908 (GRCm39) |
Y247N |
possibly damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,079,310 (GRCm39) |
C882* |
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 |
|
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 |
|
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'- TTCTGAACTGCCCAATGAAGAC -3'
(R):5'- TGGCCAGGAAGAGCATCATC -3'
Sequencing Primer
(F):5'- GCCCAATGAAGACCCTTTATTTCAC -3'
(R):5'- ATCGCAGCGGAGAACCTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation