Incidental Mutation 'IGL01070:Kcnj4'
| ID |
52767 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnj4
|
| Ensembl Gene |
ENSMUSG00000044216 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 4 |
| Synonyms |
MB-IRK3, Kir 2.3, Kcnf2, IRK3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL01070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
79483714-79505241 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79484579 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 400
(L400P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057801]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057801
AA Change: L400P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000094075
Gene: ENSMUSG00000044216
AA Change: L400P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
22 |
361 |
2.1e-155 |
PFAM |
|
coiled coil region
|
371 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229365
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,950,275 (GRCm38) |
V124I |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,863,133 (GRCm38) |
H757R |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,907,302 (GRCm38) |
M299I |
probably damaging |
Het |
| Akap3 |
A |
T |
6: 126,865,879 (GRCm38) |
E487V |
possibly damaging |
Het |
| Bicd2 |
T |
C |
13: 49,378,316 (GRCm38) |
S271P |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm38) |
S162N |
probably damaging |
Het |
| Cma1 |
A |
G |
14: 55,942,697 (GRCm38) |
S71P |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,088,145 (GRCm38) |
Y494H |
probably damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,683,022 (GRCm38) |
K191R |
probably benign |
Het |
| Efr3a |
G |
A |
15: 65,853,078 (GRCm38) |
V507I |
probably benign |
Het |
| Fam178b |
C |
T |
1: 36,564,403 (GRCm38) |
R489Q |
possibly damaging |
Het |
| Kif27 |
A |
G |
13: 58,344,093 (GRCm38) |
Y411H |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,061,997 (GRCm38) |
I78L |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,329,084 (GRCm38) |
D1377G |
probably damaging |
Het |
| Pramel5 |
T |
G |
4: 144,271,272 (GRCm38) |
Y467S |
probably damaging |
Het |
| Prkg1 |
G |
A |
19: 30,569,343 (GRCm38) |
|
probably benign |
Het |
| Rbfox1 |
A |
C |
16: 7,306,443 (GRCm38) |
S219R |
possibly damaging |
Het |
| Rfng |
T |
C |
11: 120,783,952 (GRCm38) |
N71D |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,345,238 (GRCm38) |
I1884V |
probably damaging |
Het |
| Rptn |
T |
A |
3: 93,398,176 (GRCm38) |
Y939N |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,383,951 (GRCm38) |
V322A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,549,416 (GRCm38) |
S1455P |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,231,601 (GRCm38) |
R703W |
possibly damaging |
Het |
| Sptan1 |
G |
A |
2: 30,014,173 (GRCm38) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,395,003 (GRCm38) |
D43G |
probably damaging |
Het |
| Tmem67 |
A |
T |
4: 12,054,750 (GRCm38) |
M685K |
probably benign |
Het |
| Trac |
A |
G |
14: 54,220,766 (GRCm38) |
T82A |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,366,793 (GRCm38) |
N1295S |
probably damaging |
Het |
| Ttc36 |
T |
C |
9: 44,801,590 (GRCm38) |
|
probably null |
Het |
| Utp18 |
A |
T |
11: 93,869,848 (GRCm38) |
S384T |
possibly damaging |
Het |
| Vmn1r64 |
C |
A |
7: 5,883,942 (GRCm38) |
A201S |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,061,607 (GRCm38) |
I714F |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,312,268 (GRCm38) |
V626D |
probably damaging |
Het |
| Wapl |
T |
C |
14: 34,745,622 (GRCm38) |
|
probably benign |
Het |
| Yars2 |
C |
T |
16: 16,306,542 (GRCm38) |
R338* |
probably null |
Het |
|
| Other mutations in Kcnj4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02263:Kcnj4
|
APN |
15 |
79,485,787 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL02551:Kcnj4
|
APN |
15 |
79,484,902 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1305:Kcnj4
|
UTSW |
15 |
79,484,819 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1464:Kcnj4
|
UTSW |
15 |
79,485,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1464:Kcnj4
|
UTSW |
15 |
79,485,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1475:Kcnj4
|
UTSW |
15 |
79,484,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1844:Kcnj4
|
UTSW |
15 |
79,485,015 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3906:Kcnj4
|
UTSW |
15 |
79,485,745 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3907:Kcnj4
|
UTSW |
15 |
79,485,745 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3908:Kcnj4
|
UTSW |
15 |
79,485,745 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4396:Kcnj4
|
UTSW |
15 |
79,484,673 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7598:Kcnj4
|
UTSW |
15 |
79,485,764 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8059:Kcnj4
|
UTSW |
15 |
79,484,802 (GRCm38) |
missense |
probably benign |
|
|
R8371:Kcnj4
|
UTSW |
15 |
79,485,141 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8818:Kcnj4
|
UTSW |
15 |
79,485,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9664:Kcnj4
|
UTSW |
15 |
79,485,019 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
X0062:Kcnj4
|
UTSW |
15 |
79,485,690 (GRCm38) |
missense |
probably benign |
0.06 |
|
Z1177:Kcnj4
|
UTSW |
15 |
79,485,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation