Incidental Mutation 'IGL02674:Kcnk1'
ID |
303037 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kcnk1
|
Ensembl Gene |
ENSMUSG00000033998 |
Gene Name |
potassium channel, subfamily K, member 1 |
Synonyms |
TWIK-1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02674
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
126721909-126757424 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126751753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 120
(Y120H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148778
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046765]
[ENSMUST00000212831]
|
AlphaFold |
O08581 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046765
AA Change: Y120H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046103 Gene: ENSMUSG00000033998 AA Change: Y120H
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
41 |
N/A |
INTRINSIC |
low complexity region
|
49 |
68 |
N/A |
INTRINSIC |
Pfam:Ion_trans_2
|
82 |
158 |
6.6e-19 |
PFAM |
Pfam:Ion_trans_2
|
190 |
271 |
1.8e-17 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212178
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212831
AA Change: Y120H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null mutation reduced urinary flow rates and on a low phosphate diet display an attenuated ability to increase renal phosphate reabsorption. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago2 |
T |
C |
15: 72,983,643 (GRCm39) |
R689G |
probably damaging |
Het |
Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
Akna |
A |
T |
4: 63,289,181 (GRCm39) |
C1247* |
probably null |
Het |
Appl1 |
T |
G |
14: 26,671,418 (GRCm39) |
T345P |
possibly damaging |
Het |
Chga |
A |
G |
12: 102,529,160 (GRCm39) |
D379G |
probably damaging |
Het |
Chrna6 |
C |
T |
8: 27,896,879 (GRCm39) |
A333T |
probably benign |
Het |
Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,370,688 (GRCm39) |
Q4656R |
probably benign |
Het |
Dock9 |
A |
C |
14: 121,833,023 (GRCm39) |
|
probably null |
Het |
Fat4 |
A |
G |
3: 39,037,486 (GRCm39) |
N3713D |
probably benign |
Het |
Fsd1 |
A |
T |
17: 56,303,483 (GRCm39) |
T452S |
probably benign |
Het |
G6pc2 |
A |
G |
2: 69,056,910 (GRCm39) |
|
probably null |
Het |
Gfus |
T |
C |
15: 75,798,238 (GRCm39) |
D178G |
probably damaging |
Het |
Itprid1 |
A |
G |
6: 55,874,913 (GRCm39) |
T288A |
probably benign |
Het |
Kcnh4 |
C |
A |
11: 100,637,720 (GRCm39) |
V646L |
possibly damaging |
Het |
L3mbtl3 |
C |
T |
10: 26,158,711 (GRCm39) |
E646K |
unknown |
Het |
Lrrc4c |
T |
C |
2: 97,460,120 (GRCm39) |
W249R |
probably damaging |
Het |
Meox1 |
A |
T |
11: 101,784,767 (GRCm39) |
L22H |
probably damaging |
Het |
Mrgpra4 |
C |
T |
7: 47,630,690 (GRCm39) |
V304M |
probably benign |
Het |
Ncaph |
T |
C |
2: 126,955,496 (GRCm39) |
Y554C |
probably damaging |
Het |
Nfx1 |
T |
C |
4: 40,999,717 (GRCm39) |
|
probably null |
Het |
Or10p1 |
A |
C |
10: 129,443,939 (GRCm39) |
M137R |
possibly damaging |
Het |
Or8g37 |
A |
G |
9: 39,730,934 (GRCm39) |
|
probably null |
Het |
Otol1 |
C |
T |
3: 69,926,077 (GRCm39) |
P84L |
probably benign |
Het |
Pcdhb11 |
T |
C |
18: 37,556,667 (GRCm39) |
S666P |
probably damaging |
Het |
Pou2f3 |
T |
C |
9: 43,050,628 (GRCm39) |
K244R |
probably damaging |
Het |
Ppp6r1 |
T |
C |
7: 4,649,812 (GRCm39) |
N51S |
probably damaging |
Het |
Prdm4 |
A |
T |
10: 85,729,263 (GRCm39) |
L715M |
probably damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Rsc1a1 |
G |
T |
4: 141,411,406 (GRCm39) |
P502Q |
probably damaging |
Het |
Senp1 |
T |
C |
15: 97,954,840 (GRCm39) |
E448G |
probably damaging |
Het |
Shd |
A |
G |
17: 56,278,554 (GRCm39) |
D39G |
possibly damaging |
Het |
Skint5 |
A |
C |
4: 113,487,582 (GRCm39) |
|
probably benign |
Het |
Tmprss15 |
T |
G |
16: 78,798,682 (GRCm39) |
T667P |
possibly damaging |
Het |
Vps13b |
A |
T |
15: 35,640,104 (GRCm39) |
M1325L |
probably benign |
Het |
Zfp263 |
T |
C |
16: 3,564,629 (GRCm39) |
|
probably benign |
Het |
Zfp786 |
A |
G |
6: 47,797,427 (GRCm39) |
F504L |
probably benign |
Het |
|
Other mutations in Kcnk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01345:Kcnk1
|
APN |
8 |
126,752,146 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01936:Kcnk1
|
APN |
8 |
126,751,826 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02447:Kcnk1
|
APN |
8 |
126,751,819 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4515001:Kcnk1
|
UTSW |
8 |
126,752,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R0735:Kcnk1
|
UTSW |
8 |
126,752,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R1350:Kcnk1
|
UTSW |
8 |
126,751,967 (GRCm39) |
missense |
probably benign |
0.08 |
R1581:Kcnk1
|
UTSW |
8 |
126,722,278 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1789:Kcnk1
|
UTSW |
8 |
126,752,123 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2035:Kcnk1
|
UTSW |
8 |
126,752,108 (GRCm39) |
missense |
possibly damaging |
0.56 |
R2125:Kcnk1
|
UTSW |
8 |
126,722,395 (GRCm39) |
missense |
probably damaging |
0.99 |
R2906:Kcnk1
|
UTSW |
8 |
126,722,538 (GRCm39) |
missense |
probably benign |
0.00 |
R2907:Kcnk1
|
UTSW |
8 |
126,722,538 (GRCm39) |
missense |
probably benign |
0.00 |
R4710:Kcnk1
|
UTSW |
8 |
126,756,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R5698:Kcnk1
|
UTSW |
8 |
126,752,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R6591:Kcnk1
|
UTSW |
8 |
126,751,970 (GRCm39) |
missense |
probably benign |
0.01 |
R6647:Kcnk1
|
UTSW |
8 |
126,722,199 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
R6691:Kcnk1
|
UTSW |
8 |
126,751,970 (GRCm39) |
missense |
probably benign |
0.01 |
R6934:Kcnk1
|
UTSW |
8 |
126,752,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R7059:Kcnk1
|
UTSW |
8 |
126,756,466 (GRCm39) |
nonsense |
probably null |
|
R7082:Kcnk1
|
UTSW |
8 |
126,722,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R7441:Kcnk1
|
UTSW |
8 |
126,722,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R7596:Kcnk1
|
UTSW |
8 |
126,722,350 (GRCm39) |
missense |
probably damaging |
0.97 |
R8393:Kcnk1
|
UTSW |
8 |
126,751,964 (GRCm39) |
missense |
probably benign |
0.05 |
R9271:Kcnk1
|
UTSW |
8 |
126,752,152 (GRCm39) |
splice site |
probably null |
|
R9286:Kcnk1
|
UTSW |
8 |
126,752,148 (GRCm39) |
critical splice donor site |
probably null |
|
R9481:Kcnk1
|
UTSW |
8 |
126,756,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R9553:Kcnk1
|
UTSW |
8 |
126,756,322 (GRCm39) |
nonsense |
probably null |
|
R9779:Kcnk1
|
UTSW |
8 |
126,751,807 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Kcnk1
|
UTSW |
8 |
126,756,392 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |