Incidental Mutation 'R6554:Kcnj16'
| ID |
521865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnj16
|
| Ensembl Gene |
ENSMUSG00000051497 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 16 |
| Synonyms |
6430410F18Rik, Kir5.1 |
| MMRRC Submission |
044679-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6554 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
110858859-110918794 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 110916131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 264
(Y264*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106635]
[ENSMUST00000106636]
[ENSMUST00000125692]
[ENSMUST00000150902]
[ENSMUST00000178798]
[ENSMUST00000180023]
|
| AlphaFold |
Q9Z307 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000106635
AA Change: Y264*
|
| SMART Domains |
Protein: ENSMUSP00000102246
Gene: ENSMUSG00000051497
AA Change: Y264*
| 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 null
Transcript: ENSMUST00000106636
AA Change: Y264*
|
| SMART Domains |
Protein: ENSMUSP00000102247
Gene: ENSMUSG00000051497
AA Change: Y264*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
368 |
2e-145 |
PFAM |
|
low complexity region
|
371 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000178798
AA Change: Y264*
|
| SMART Domains |
Protein: ENSMUSP00000137414
Gene: ENSMUSG00000051497
AA Change: Y264*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
368 |
2e-145 |
PFAM |
|
low complexity region
|
371 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000180023
AA Change: Y264*
|
| SMART Domains |
Protein: ENSMUSP00000136382
Gene: ENSMUSG00000051497
AA Change: Y264*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
368 |
2e-145 |
PFAM |
|
low complexity region
|
371 |
383 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9667 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,618,246 (GRCm39) |
R180C |
probably damaging |
Het |
| B3galt9 |
C |
A |
2: 34,729,276 (GRCm39) |
S358R |
probably benign |
Het |
| Ces1b |
C |
A |
8: 93,791,619 (GRCm39) |
V327L |
probably benign |
Het |
| Cps1 |
C |
T |
1: 67,213,628 (GRCm39) |
R787* |
probably null |
Het |
| Dmrt2 |
C |
T |
19: 25,655,312 (GRCm39) |
P304S |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,557,346 (GRCm39) |
D429G |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,616,282 (GRCm39) |
M3111K |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,037,699 (GRCm39) |
V3393A |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,517,063 (GRCm39) |
D1007G |
possibly damaging |
Het |
| Flt3 |
A |
C |
5: 147,312,545 (GRCm39) |
L132W |
probably damaging |
Het |
| Gm14322 |
G |
A |
2: 177,410,220 (GRCm39) |
S60N |
possibly damaging |
Het |
| Katnip |
C |
T |
7: 125,449,914 (GRCm39) |
R993C |
probably damaging |
Het |
| Klkb1 |
T |
A |
8: 45,726,591 (GRCm39) |
I471F |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,914 (GRCm39) |
T207A |
probably damaging |
Het |
| Mfsd4b5 |
T |
A |
10: 39,862,428 (GRCm39) |
T32S |
probably benign |
Het |
| Mtbp |
A |
G |
15: 55,430,645 (GRCm39) |
D234G |
probably damaging |
Het |
| Nfix |
T |
C |
8: 85,454,279 (GRCm39) |
T218A |
possibly damaging |
Het |
| Nsd3 |
A |
T |
8: 26,152,891 (GRCm39) |
E410D |
probably damaging |
Het |
| Or4g17 |
C |
T |
2: 111,209,504 (GRCm39) |
S53F |
possibly damaging |
Het |
| Or5aq7 |
A |
T |
2: 86,937,970 (GRCm39) |
S254T |
probably benign |
Het |
| Reln |
T |
C |
5: 22,101,838 (GRCm39) |
Y3364C |
probably damaging |
Het |
| Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
| Serpina1d |
A |
T |
12: 103,731,062 (GRCm39) |
H305Q |
probably benign |
Het |
| Skic8 |
A |
T |
9: 54,634,929 (GRCm39) |
I88N |
probably damaging |
Het |
| Skint8 |
G |
A |
4: 111,784,413 (GRCm39) |
C13Y |
probably benign |
Het |
| Smc4 |
G |
A |
3: 68,936,848 (GRCm39) |
V863I |
probably benign |
Het |
| Spdl1 |
T |
G |
11: 34,713,397 (GRCm39) |
N224T |
possibly damaging |
Het |
| Sprr1b |
T |
G |
3: 92,344,420 (GRCm39) |
Q152P |
possibly damaging |
Het |
| St6gal1 |
A |
G |
16: 23,140,405 (GRCm39) |
N192S |
probably benign |
Het |
| Tbc1d8 |
T |
C |
1: 39,445,903 (GRCm39) |
N96S |
probably damaging |
Het |
| Tbccd1 |
A |
T |
16: 22,640,874 (GRCm39) |
I501K |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Unk |
T |
C |
11: 115,942,285 (GRCm39) |
I293T |
probably damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,926,139 (GRCm39) |
E548G |
probably damaging |
Het |
| Wdr97 |
A |
G |
15: 76,239,178 (GRCm39) |
D85G |
possibly damaging |
Het |
| Zeb2 |
A |
T |
2: 44,887,524 (GRCm39) |
V496E |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGTGGCGCATAGGTGAC -3'
(R):5'- ACGCTTCCTTCAAACTGCAAG -3'
Sequencing Primer
(F):5'- GTGACTTCCGACCAAACCATGTG -3'
(R):5'- GCAAGCAGTTCACCTTGTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation