Incidental Mutation 'IGL00579:Kcnj16'
| ID |
4472 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnj16
|
| Ensembl Gene |
ENSMUSG00000051497 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 16 |
| Synonyms |
6430410F18Rik, Kir5.1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL00579
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
110858859-110918794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110916034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 232
(T232M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106635]
[ENSMUST00000106636]
[ENSMUST00000125692]
[ENSMUST00000150902]
[ENSMUST00000178798]
[ENSMUST00000180023]
|
| AlphaFold |
Q9Z307 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106635
AA Change: T232M
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102246
Gene: ENSMUSG00000051497
AA Change: T232M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
357 |
9.3e-132 |
PFAM |
|
low complexity region
|
371 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106636
AA Change: T232M
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102247
Gene: ENSMUSG00000051497
AA Change: T232M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
368 |
2e-145 |
PFAM |
|
low complexity region
|
371 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125692
|
| SMART Domains |
Protein: ENSMUSP00000119921
Gene: ENSMUSG00000051497
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
103 |
3.4e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150902
|
| SMART Domains |
Protein: ENSMUSP00000121758
Gene: ENSMUSG00000051497
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
66 |
1.5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178798
AA Change: T232M
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000137414
Gene: ENSMUSG00000051497
AA Change: T232M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
368 |
2e-145 |
PFAM |
|
low complexity region
|
371 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180023
AA Change: T232M
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000136382
Gene: ENSMUSG00000051497
AA Change: T232M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
368 |
2e-145 |
PFAM |
|
low complexity region
|
371 |
383 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| 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 tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuron response to ammonium chloride withdrawal and carbon dioxide treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
T |
C |
5: 24,773,794 (GRCm39) |
E365G |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,152,100 (GRCm39) |
Y197H |
probably benign |
Het |
| Cept1 |
A |
T |
3: 106,413,119 (GRCm39) |
V202E |
possibly damaging |
Het |
| Cfap53 |
A |
T |
18: 74,438,611 (GRCm39) |
K263* |
probably null |
Het |
| Dennd3 |
T |
C |
15: 73,412,691 (GRCm39) |
I451T |
possibly damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,035,728 (GRCm39) |
|
probably benign |
Het |
| Egf |
T |
A |
3: 129,491,447 (GRCm39) |
H850L |
probably benign |
Het |
| Gm11595 |
T |
C |
11: 99,662,868 (GRCm39) |
T271A |
unknown |
Het |
| Gorab |
T |
C |
1: 163,222,256 (GRCm39) |
E142G |
probably damaging |
Het |
| Gpat4 |
A |
G |
8: 23,672,791 (GRCm39) |
S20P |
probably damaging |
Het |
| Gpr83 |
T |
C |
9: 14,771,897 (GRCm39) |
V23A |
probably benign |
Het |
| Il13ra2 |
A |
G |
X: 146,177,386 (GRCm39) |
Y146H |
probably damaging |
Het |
| Mdfic |
A |
T |
6: 15,741,073 (GRCm39) |
I61F |
possibly damaging |
Het |
| Mmp3 |
G |
T |
9: 7,445,894 (GRCm39) |
|
probably benign |
Het |
| Olr1 |
C |
T |
6: 129,470,486 (GRCm39) |
R227K |
probably benign |
Het |
| Otof |
T |
A |
5: 30,556,666 (GRCm39) |
I257F |
possibly damaging |
Het |
| Oxsr1 |
T |
A |
9: 119,088,277 (GRCm39) |
R43S |
probably damaging |
Het |
| Pacc1 |
T |
C |
1: 191,060,405 (GRCm39) |
V21A |
unknown |
Het |
| Prkdc |
A |
G |
16: 15,482,103 (GRCm39) |
D382G |
probably damaging |
Het |
| Slc35b2 |
G |
T |
17: 45,875,886 (GRCm39) |
V81L |
probably damaging |
Het |
| Thumpd3 |
G |
A |
6: 113,024,622 (GRCm39) |
R72H |
possibly damaging |
Het |
| Tsga10 |
G |
A |
1: 37,874,534 (GRCm39) |
T117I |
probably damaging |
Het |
| Vps13a |
T |
A |
19: 16,684,726 (GRCm39) |
T953S |
probably benign |
Het |
| Wdr62 |
A |
C |
7: 29,967,320 (GRCm39) |
C311W |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,716,830 (GRCm39) |
T247A |
possibly damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,454 (GRCm39) |
V194D |
possibly damaging |
Het |
| Zfp639 |
A |
T |
3: 32,574,626 (GRCm39) |
E417V |
probably damaging |
Het |
|
| Other mutations in Kcnj16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00596:Kcnj16
|
APN |
11 |
110,915,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02152:Kcnj16
|
APN |
11 |
110,916,036 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02637:Kcnj16
|
APN |
11 |
110,916,439 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0054:Kcnj16
|
UTSW |
11 |
110,915,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Kcnj16
|
UTSW |
11 |
110,915,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1256:Kcnj16
|
UTSW |
11 |
110,916,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1557:Kcnj16
|
UTSW |
11 |
110,916,067 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1919:Kcnj16
|
UTSW |
11 |
110,915,779 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1985:Kcnj16
|
UTSW |
11 |
110,916,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2047:Kcnj16
|
UTSW |
11 |
110,915,946 (GRCm39) |
splice site |
probably null |
|
|
R2504:Kcnj16
|
UTSW |
11 |
110,916,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3915:Kcnj16
|
UTSW |
11 |
110,916,382 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6102:Kcnj16
|
UTSW |
11 |
110,916,403 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6225:Kcnj16
|
UTSW |
11 |
110,916,378 (GRCm39) |
nonsense |
probably null |
|
|
R6554:Kcnj16
|
UTSW |
11 |
110,916,131 (GRCm39) |
nonsense |
probably null |
|
|
R6620:Kcnj16
|
UTSW |
11 |
110,915,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Kcnj16
|
UTSW |
11 |
110,915,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7990:Kcnj16
|
UTSW |
11 |
110,915,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8161:Kcnj16
|
UTSW |
11 |
110,915,341 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R8414:Kcnj16
|
UTSW |
11 |
110,916,441 (GRCm39) |
missense |
probably benign |
|
|
R8810:Kcnj16
|
UTSW |
11 |
110,915,677 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8932:Kcnj16
|
UTSW |
11 |
110,915,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Kcnj16
|
UTSW |
11 |
110,915,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnj16
|
UTSW |
11 |
110,916,596 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Kcnj16
|
UTSW |
11 |
110,915,379 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Posted On |
2012-04-20 |
Incidental Mutation