Incidental Mutation 'R2906:Kcnk1'
ID |
261657 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnk1
|
Ensembl Gene |
ENSMUSG00000033998 |
Gene Name |
potassium channel, subfamily K, member 1 |
Synonyms |
TWIK-1 |
MMRRC Submission |
040493-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2906 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
126721909-126757424 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 126722538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 114
(V114L)
|
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: V114L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000046103 Gene: ENSMUSG00000033998 AA Change: V114L
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 |
probably benign
Transcript: ENSMUST00000212831
AA Change: V114L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.1511 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
97% (37/38) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,353,520 (GRCm39) |
W690R |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,308,694 (GRCm39) |
I800T |
probably benign |
Het |
Afg3l2 |
G |
A |
18: 67,573,292 (GRCm39) |
T170M |
probably damaging |
Het |
Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,199 (GRCm39) |
C211S |
probably damaging |
Het |
Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,871,850 (GRCm39) |
T432A |
possibly damaging |
Het |
Col13a1 |
T |
C |
10: 61,696,267 (GRCm39) |
|
probably benign |
Het |
Ddx4 |
G |
T |
13: 112,757,311 (GRCm39) |
|
probably benign |
Het |
Dnm1l |
A |
T |
16: 16,132,175 (GRCm39) |
S666T |
probably damaging |
Het |
Duoxa1 |
C |
T |
2: 122,135,155 (GRCm39) |
V197M |
probably benign |
Het |
Gm6430 |
A |
T |
1: 96,952,554 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2a1l |
G |
A |
17: 89,002,083 (GRCm39) |
R313H |
possibly damaging |
Het |
Gucy2c |
A |
T |
6: 136,685,385 (GRCm39) |
V852E |
probably damaging |
Het |
Klra3 |
G |
T |
6: 130,310,302 (GRCm39) |
Q73K |
probably damaging |
Het |
Lax1 |
A |
T |
1: 133,616,643 (GRCm39) |
M1K |
probably null |
Het |
Lce1k |
T |
C |
3: 92,713,882 (GRCm39) |
S101G |
unknown |
Het |
Med12l |
T |
C |
3: 59,164,503 (GRCm39) |
L1365P |
probably damaging |
Het |
Mtx2 |
T |
C |
2: 74,697,253 (GRCm39) |
S83P |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,504 (GRCm39) |
C511G |
probably damaging |
Het |
Nefh |
A |
G |
11: 4,890,216 (GRCm39) |
I801T |
probably benign |
Het |
Or8g24 |
A |
G |
9: 38,989,669 (GRCm39) |
V124A |
probably benign |
Het |
Oxct2b |
A |
G |
4: 123,010,823 (GRCm39) |
I248V |
probably benign |
Het |
Pcdhgb2 |
A |
T |
18: 37,823,908 (GRCm39) |
I300F |
probably damaging |
Het |
Ptprc |
G |
A |
1: 137,992,272 (GRCm39) |
A1285V |
possibly damaging |
Het |
Rassf3 |
A |
G |
10: 121,250,297 (GRCm39) |
L172P |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
Rpusd1 |
T |
C |
17: 25,949,705 (GRCm39) |
S292P |
probably benign |
Het |
Scamp5 |
A |
G |
9: 57,351,146 (GRCm39) |
V172A |
probably damaging |
Het |
Snx25 |
T |
C |
8: 46,502,560 (GRCm39) |
|
probably null |
Het |
Tmprss11g |
A |
G |
5: 86,640,661 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
G |
C |
6: 113,369,471 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
Usp45 |
T |
A |
4: 21,834,338 (GRCm39) |
Y805* |
probably null |
Het |
Zfp639 |
T |
C |
3: 32,573,900 (GRCm39) |
L175P |
probably damaging |
Het |
Zfp995 |
T |
C |
17: 22,099,247 (GRCm39) |
D329G |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCCTTATGAGGACCTGCTG -3'
(R):5'- AAGTGAATGAGACCCCTGCAG -3'
Sequencing Primer
(F):5'- GCCAGGAGCTGCGCAAG -3'
(R):5'- CCTCAAGGTCCAGAGTGTTTGAGAC -3'
|
Posted On |
2015-01-23 |