Incidental Mutation 'IGL01345:Kcnk1'
ID |
75013 |
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 # |
IGL01345
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
126721909-126757424 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 126752146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 251
(C251S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046103
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046765]
[ENSMUST00000212831]
|
AlphaFold |
O08581 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046765
AA Change: C251S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000046103 Gene: ENSMUSG00000033998 AA Change: C251S
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 |
possibly damaging
Transcript: ENSMUST00000212831
AA Change: C251S
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930518I15Rik |
A |
G |
2: 156,699,020 (GRCm39) |
|
probably benign |
Het |
Atr |
G |
A |
9: 95,823,002 (GRCm39) |
C2323Y |
probably damaging |
Het |
Ccdc107 |
T |
A |
4: 43,493,453 (GRCm39) |
L8* |
probably null |
Het |
Erc1 |
T |
A |
6: 119,738,224 (GRCm39) |
K240* |
probably null |
Het |
Gcat |
T |
C |
15: 78,918,265 (GRCm39) |
|
probably benign |
Het |
Gm4847 |
A |
T |
1: 166,462,541 (GRCm39) |
D316E |
probably damaging |
Het |
Gm8267 |
A |
G |
14: 44,962,412 (GRCm39) |
S3P |
probably damaging |
Het |
Gpr26 |
T |
C |
7: 131,569,161 (GRCm39) |
F169L |
possibly damaging |
Het |
Itgal |
T |
A |
7: 126,900,128 (GRCm39) |
F129I |
possibly damaging |
Het |
Nfkb1 |
T |
C |
3: 135,300,742 (GRCm39) |
D608G |
probably damaging |
Het |
Nlrp2 |
T |
C |
7: 5,320,491 (GRCm39) |
E882G |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,266,947 (GRCm39) |
K385E |
probably benign |
Het |
Pik3r5 |
G |
A |
11: 68,387,020 (GRCm39) |
D854N |
possibly damaging |
Het |
Rnf220 |
G |
A |
4: 117,130,467 (GRCm39) |
R253* |
probably null |
Het |
Slc22a15 |
A |
C |
3: 101,787,492 (GRCm39) |
S259R |
probably benign |
Het |
Tln1 |
G |
A |
4: 43,536,281 (GRCm39) |
L2004F |
probably damaging |
Het |
Tlnrd1 |
A |
G |
7: 83,532,054 (GRCm39) |
S126P |
probably damaging |
Het |
Ulk4 |
T |
C |
9: 121,037,228 (GRCm39) |
T587A |
possibly damaging |
Het |
Vasn |
A |
G |
16: 4,466,232 (GRCm39) |
I60V |
probably benign |
Het |
Vps33a |
G |
T |
5: 123,711,006 (GRCm39) |
N13K |
probably benign |
Het |
Zmiz2 |
A |
G |
11: 6,355,015 (GRCm39) |
D862G |
possibly damaging |
Het |
Zswim3 |
T |
A |
2: 164,662,057 (GRCm39) |
L179H |
probably damaging |
Het |
|
Other mutations in Kcnk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02674:Kcnk1
|
APN |
8 |
126,751,753 (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 |
2013-10-07 |