Incidental Mutation 'R1305:Kcnj4'
| ID |
157787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnj4
|
| Ensembl Gene |
ENSMUSG00000044216 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 4 |
| Synonyms |
IRK3, Kcnf2, Kir 2.3, MB-IRK3 |
| MMRRC Submission |
039371-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R1305 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
79367915-79389442 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79369020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 320
(V320E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057801]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057801
AA Change: V320E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094075
Gene: ENSMUSG00000044216
AA Change: V320E
| 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 |
- 1x: 98.9%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2 |
G |
A |
5: 121,887,247 (GRCm39) |
V306I |
probably damaging |
Het |
| Enc1 |
T |
C |
13: 97,383,208 (GRCm39) |
Y573H |
possibly damaging |
Het |
| Gm9869 |
T |
C |
9: 60,729,168 (GRCm39) |
|
probably benign |
Het |
| Ifna2 |
T |
C |
4: 88,601,614 (GRCm39) |
T135A |
probably benign |
Het |
| Ifngr1 |
C |
T |
10: 19,482,001 (GRCm39) |
T197M |
possibly damaging |
Het |
| Map2 |
T |
A |
1: 66,464,554 (GRCm39) |
I1648N |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,694,890 (GRCm39) |
M435L |
probably benign |
Het |
| Mark3 |
T |
A |
12: 111,581,880 (GRCm39) |
|
probably null |
Het |
| Mex3c |
T |
A |
18: 73,723,306 (GRCm39) |
F466L |
probably benign |
Het |
| Msl3l2 |
T |
C |
10: 55,991,631 (GRCm39) |
C119R |
probably damaging |
Het |
| Msln |
T |
C |
17: 25,972,001 (GRCm39) |
E72G |
probably benign |
Het |
| Nid2 |
T |
C |
14: 19,818,930 (GRCm39) |
S475P |
probably benign |
Het |
| Nme8 |
T |
A |
13: 19,881,077 (GRCm39) |
N18I |
possibly damaging |
Het |
| Nwd2 |
G |
T |
5: 63,902,540 (GRCm39) |
W86L |
probably damaging |
Het |
| Or4p21 |
A |
T |
2: 88,276,646 (GRCm39) |
L212* |
probably null |
Het |
| Or7a37 |
T |
C |
10: 78,805,933 (GRCm39) |
I150T |
probably benign |
Het |
| Pard3 |
T |
A |
8: 128,032,891 (GRCm39) |
S162T |
possibly damaging |
Het |
| Ppm1a |
C |
A |
12: 72,830,494 (GRCm39) |
D6E |
probably damaging |
Het |
| Rcor3 |
C |
T |
1: 191,800,646 (GRCm39) |
V312I |
possibly damaging |
Het |
| Rgs20 |
T |
A |
1: 5,091,262 (GRCm39) |
|
probably null |
Het |
| Slc11a2 |
C |
A |
15: 100,307,963 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Vmn1r124 |
C |
A |
7: 20,994,188 (GRCm39) |
V119F |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,787,523 (GRCm39) |
T230A |
possibly damaging |
Het |
| Zfp945 |
T |
C |
17: 23,071,360 (GRCm39) |
K180E |
probably damaging |
Het |
|
| Other mutations in Kcnj4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01070:Kcnj4
|
APN |
15 |
79,368,780 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02263:Kcnj4
|
APN |
15 |
79,369,988 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02551:Kcnj4
|
APN |
15 |
79,369,103 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1464:Kcnj4
|
UTSW |
15 |
79,369,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Kcnj4
|
UTSW |
15 |
79,369,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1475:Kcnj4
|
UTSW |
15 |
79,368,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Kcnj4
|
UTSW |
15 |
79,369,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3906:Kcnj4
|
UTSW |
15 |
79,369,946 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3907:Kcnj4
|
UTSW |
15 |
79,369,946 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3908:Kcnj4
|
UTSW |
15 |
79,369,946 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4396:Kcnj4
|
UTSW |
15 |
79,368,874 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7598:Kcnj4
|
UTSW |
15 |
79,369,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8059:Kcnj4
|
UTSW |
15 |
79,369,003 (GRCm39) |
missense |
probably benign |
|
|
R8371:Kcnj4
|
UTSW |
15 |
79,369,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8818:Kcnj4
|
UTSW |
15 |
79,369,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:Kcnj4
|
UTSW |
15 |
79,369,220 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0062:Kcnj4
|
UTSW |
15 |
79,369,891 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Kcnj4
|
UTSW |
15 |
79,369,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTGCCAAACTCAAGCATCC -3'
(R):5'- GACCTCAACGTGGGCTATGACATC -3'
Sequencing Primer
(F):5'- CCGGATAATGCCTGCCTC -3'
(R):5'- GGTGTCACCCATCATCATAGTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation