Incidental Mutation 'IGL02637:Kcnj16'
| ID |
301561 |
| 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 # |
IGL02637
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
110858859-110918794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110916439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 367
(D367V)
|
| 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: D367V
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102246
Gene: ENSMUSG00000051497
AA Change: D367V
| 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: D367V
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102247
Gene: ENSMUSG00000051497
AA Change: D367V
| 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: D367V
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000137414
Gene: ENSMUSG00000051497
AA Change: D367V
| 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: D367V
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000136382
Gene: ENSMUSG00000051497
AA Change: D367V
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,309,907 (GRCm39) |
Y435C |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,460,143 (GRCm39) |
|
probably benign |
Het |
| Ampd1 |
T |
C |
3: 103,002,199 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
G |
A |
1: 193,030,696 (GRCm39) |
P338S |
probably benign |
Het |
| Cog3 |
T |
C |
14: 75,959,636 (GRCm39) |
|
probably benign |
Het |
| Crat |
A |
G |
2: 30,296,401 (GRCm39) |
V355A |
probably benign |
Het |
| Ctla2a |
T |
A |
13: 61,083,899 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
C |
A |
2: 130,656,227 (GRCm39) |
|
probably benign |
Het |
| Efhb |
A |
G |
17: 53,756,580 (GRCm39) |
I357T |
probably benign |
Het |
| Fh1 |
T |
C |
1: 175,437,332 (GRCm39) |
M256V |
probably benign |
Het |
| Gabrg3 |
A |
G |
7: 56,384,775 (GRCm39) |
I262T |
probably damaging |
Het |
| Gata2 |
C |
T |
6: 88,181,558 (GRCm39) |
|
probably benign |
Het |
| Gm6356 |
A |
G |
14: 6,970,926 (GRCm38) |
V178A |
possibly damaging |
Het |
| Hacl1 |
T |
C |
14: 31,362,458 (GRCm39) |
E63G |
probably damaging |
Het |
| Hid1 |
A |
T |
11: 115,241,421 (GRCm39) |
I623N |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,006,452 (GRCm39) |
K1017E |
possibly damaging |
Het |
| Ifi208 |
C |
T |
1: 173,506,508 (GRCm39) |
T97I |
probably benign |
Het |
| Ighg1 |
T |
C |
12: 113,293,132 (GRCm39) |
H186R |
unknown |
Het |
| Igkv8-26 |
T |
C |
6: 70,170,642 (GRCm39) |
S78P |
probably damaging |
Het |
| Itih3 |
T |
C |
14: 30,637,617 (GRCm39) |
N514S |
probably benign |
Het |
| Klhl23 |
A |
T |
2: 69,659,258 (GRCm39) |
R428* |
probably null |
Het |
| Lgmn |
T |
C |
12: 102,366,485 (GRCm39) |
E216G |
probably damaging |
Het |
| Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
C |
T |
19: 3,680,269 (GRCm39) |
G405D |
probably benign |
Het |
| Lrrc74a |
C |
T |
12: 86,788,521 (GRCm39) |
R53* |
probably null |
Het |
| Lsm12 |
G |
A |
11: 102,054,948 (GRCm39) |
R123C |
probably benign |
Het |
| Marchf5 |
T |
A |
19: 37,198,033 (GRCm39) |
|
probably benign |
Het |
| Mark3 |
C |
A |
12: 111,559,090 (GRCm39) |
A44D |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,685,003 (GRCm39) |
N522I |
possibly damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,455,045 (GRCm39) |
R2611S |
possibly damaging |
Het |
| Nlrp4d |
T |
C |
7: 10,116,482 (GRCm39) |
|
noncoding transcript |
Het |
| Npnt |
T |
A |
3: 132,590,271 (GRCm39) |
I507F |
possibly damaging |
Het |
| Or51a7 |
G |
A |
7: 102,622,250 (GRCm39) |
|
probably benign |
Het |
| Pde4a |
T |
A |
9: 21,112,628 (GRCm39) |
L91Q |
probably damaging |
Het |
| Pdzd2 |
C |
T |
15: 12,385,720 (GRCm39) |
V1017M |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,427,720 (GRCm39) |
N3259S |
probably damaging |
Het |
| Plxnb2 |
A |
T |
15: 89,048,260 (GRCm39) |
H683Q |
possibly damaging |
Het |
| Reck |
T |
A |
4: 43,898,009 (GRCm39) |
S96T |
probably damaging |
Het |
| Rnf135 |
A |
G |
11: 80,089,704 (GRCm39) |
K347E |
probably benign |
Het |
| Ro60 |
A |
G |
1: 143,646,526 (GRCm39) |
V73A |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,979,378 (GRCm39) |
D246G |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 142,080,327 (GRCm39) |
T1273I |
probably damaging |
Het |
| Slc12a8 |
A |
T |
16: 33,355,330 (GRCm39) |
M49L |
probably benign |
Het |
| Slc5a11 |
A |
T |
7: 122,859,728 (GRCm39) |
|
probably null |
Het |
| Surf2 |
A |
G |
2: 26,809,790 (GRCm39) |
K247E |
probably damaging |
Het |
| Sys1 |
G |
A |
2: 164,303,312 (GRCm39) |
V9M |
possibly damaging |
Het |
| Tcf4 |
G |
A |
18: 69,480,421 (GRCm39) |
D18N |
probably damaging |
Het |
| Tmc6 |
A |
T |
11: 117,658,416 (GRCm39) |
V773D |
possibly damaging |
Het |
| Trappc13 |
T |
C |
13: 104,286,570 (GRCm39) |
Q229R |
probably benign |
Het |
| Xkr5 |
T |
C |
8: 18,984,099 (GRCm39) |
E481G |
probably benign |
Het |
| Xpo5 |
C |
A |
17: 46,546,905 (GRCm39) |
D885E |
probably damaging |
Het |
|
| Other mutations in Kcnj16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Kcnj16
|
APN |
11 |
110,916,034 (GRCm39) |
missense |
probably benign |
0.15 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation