Incidental Mutation 'R6691:Kcnk1'
ID |
530418 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnk1
|
Ensembl Gene |
ENSMUSG00000033998 |
Gene Name |
potassium channel, subfamily K, member 1 |
Synonyms |
TWIK-1 |
MMRRC Submission |
044809-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6691 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
126721909-126757424 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126751970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 192
(V192A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046103
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046765]
[ENSMUST00000212831]
|
AlphaFold |
O08581 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046765
AA Change: V192A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000046103 Gene: ENSMUSG00000033998 AA Change: V192A
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 benign
Transcript: ENSMUST00000212831
AA Change: V192A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
Meta Mutation Damage Score |
0.0729 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300009A05Rik |
A |
G |
9: 63,306,236 (GRCm39) |
Y90H |
probably damaging |
Het |
Agk |
A |
G |
6: 40,369,624 (GRCm39) |
D337G |
probably benign |
Het |
Amn |
A |
G |
12: 111,241,831 (GRCm39) |
H299R |
possibly damaging |
Het |
Angptl4 |
A |
G |
17: 33,999,755 (GRCm39) |
|
probably null |
Het |
AU040320 |
G |
A |
4: 126,730,463 (GRCm39) |
M563I |
possibly damaging |
Het |
Cachd1 |
T |
C |
4: 100,846,683 (GRCm39) |
M1042T |
probably benign |
Het |
Calcoco2 |
A |
G |
11: 95,990,934 (GRCm39) |
S247P |
unknown |
Het |
Cd209c |
T |
A |
8: 3,995,680 (GRCm39) |
I41L |
probably benign |
Het |
Ceacam12 |
T |
A |
7: 17,803,149 (GRCm39) |
V185D |
possibly damaging |
Het |
Chpt1 |
A |
T |
10: 88,321,762 (GRCm39) |
|
probably benign |
Het |
Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
Cldn8 |
T |
C |
16: 88,359,423 (GRCm39) |
I167M |
possibly damaging |
Het |
Cln3 |
A |
G |
7: 126,178,606 (GRCm39) |
V143A |
possibly damaging |
Het |
Dusp11 |
T |
C |
6: 85,938,507 (GRCm39) |
H4R |
possibly damaging |
Het |
Ephb3 |
T |
A |
16: 21,033,223 (GRCm39) |
F69Y |
probably damaging |
Het |
Gm11099 |
A |
T |
2: 58,749,485 (GRCm39) |
|
probably benign |
Het |
Grik2 |
A |
T |
10: 49,149,021 (GRCm39) |
Y521* |
probably null |
Het |
Igf2r |
A |
G |
17: 12,907,895 (GRCm39) |
L2143P |
probably damaging |
Het |
Or4a81 |
A |
T |
2: 89,619,332 (GRCm39) |
Y121* |
probably null |
Het |
Or8k53 |
A |
C |
2: 86,177,763 (GRCm39) |
S116A |
probably damaging |
Het |
Parp3 |
A |
G |
9: 106,350,891 (GRCm39) |
S329P |
probably benign |
Het |
Pld3 |
A |
T |
7: 27,231,741 (GRCm39) |
N483K |
probably benign |
Het |
Rbm33 |
A |
T |
5: 28,557,544 (GRCm39) |
E252D |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,609,609 (GRCm39) |
T4406A |
probably benign |
Het |
Sgsm3 |
A |
G |
15: 80,893,063 (GRCm39) |
D380G |
possibly damaging |
Het |
Sorl1 |
G |
T |
9: 41,913,863 (GRCm39) |
D1355E |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,063,984 (GRCm39) |
S1945P |
probably damaging |
Het |
Ube2m |
A |
T |
7: 12,770,396 (GRCm39) |
F70I |
probably damaging |
Het |
Ube3b |
A |
G |
5: 114,546,185 (GRCm39) |
I664V |
probably benign |
Het |
Ugt1a7c |
A |
G |
1: 88,023,378 (GRCm39) |
E179G |
possibly damaging |
Het |
Vps50 |
T |
C |
6: 3,504,939 (GRCm39) |
|
probably null |
Het |
Xpo1 |
T |
C |
11: 23,236,875 (GRCm39) |
L718P |
probably damaging |
Het |
Zfp354c |
A |
G |
11: 50,705,602 (GRCm39) |
I491T |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCTCCTTACAGGCTATGGC -3'
(R):5'- TCCGATCTTGTACAGCTCTCGG -3'
Sequencing Primer
(F):5'- GGCAAAGCCTTCTGCATCATC -3'
(R):5'- GTACAGCTCTCGGAACTTCTGG -3'
|
Posted On |
2018-08-01 |