Incidental Mutation 'R6934:Kcnk1'
ID |
540206 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnk1
|
Ensembl Gene |
ENSMUSG00000033998 |
Gene Name |
potassium channel, subfamily K, member 1 |
Synonyms |
TWIK-1 |
MMRRC Submission |
045049-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6934 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
126721909-126757424 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126752129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 245
(Y245C)
|
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: Y245C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046103 Gene: ENSMUSG00000033998 AA Change: Y245C
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 damaging
Transcript: ENSMUST00000212831
AA Change: Y245C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
T |
A |
8: 122,266,712 (GRCm39) |
Y58F |
probably benign |
Het |
Asap2 |
T |
C |
12: 21,218,251 (GRCm39) |
V58A |
probably damaging |
Het |
Bccip |
A |
G |
7: 133,322,520 (GRCm39) |
M289V |
probably benign |
Het |
Bhmt2 |
A |
T |
13: 93,798,819 (GRCm39) |
I334N |
probably benign |
Het |
Copa |
T |
A |
1: 171,938,253 (GRCm39) |
I513N |
possibly damaging |
Het |
Cspg4b |
T |
C |
13: 113,505,800 (GRCm39) |
S2310P |
probably benign |
Het |
Ctif |
G |
A |
18: 75,568,431 (GRCm39) |
T569M |
probably benign |
Het |
Dennd1a |
A |
T |
2: 37,691,225 (GRCm39) |
M231K |
possibly damaging |
Het |
Dnah3 |
A |
G |
7: 119,653,824 (GRCm39) |
|
probably null |
Het |
Fat3 |
T |
C |
9: 16,288,252 (GRCm39) |
I424V |
probably damaging |
Het |
Foxred2 |
G |
T |
15: 77,836,530 (GRCm39) |
C328* |
probably null |
Het |
Gemin5 |
A |
T |
11: 58,038,738 (GRCm39) |
H590Q |
probably damaging |
Het |
Gm5475 |
T |
C |
15: 100,325,007 (GRCm39) |
|
probably benign |
Het |
Gmip |
A |
G |
8: 70,273,576 (GRCm39) |
T956A |
probably benign |
Het |
Hmbox1 |
A |
T |
14: 65,134,281 (GRCm39) |
D106E |
probably benign |
Het |
Irs2 |
A |
T |
8: 11,054,697 (GRCm39) |
I1245N |
probably damaging |
Het |
Krtap4-9 |
A |
T |
11: 99,676,708 (GRCm39) |
R210* |
probably null |
Het |
Lama1 |
A |
G |
17: 68,081,538 (GRCm39) |
D1325G |
probably benign |
Het |
Lyz3 |
C |
T |
10: 117,074,413 (GRCm39) |
D25N |
probably benign |
Het |
Mep1a |
A |
T |
17: 43,793,121 (GRCm39) |
V361E |
probably damaging |
Het |
Mrgprx2 |
A |
G |
7: 48,131,813 (GRCm39) |
I92T |
possibly damaging |
Het |
Nup214 |
A |
T |
2: 31,872,683 (GRCm39) |
R242* |
probably null |
Het |
Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
Or13a24 |
T |
G |
7: 140,154,564 (GRCm39) |
L166R |
probably damaging |
Het |
Or5p60 |
A |
G |
7: 107,724,026 (GRCm39) |
V148A |
probably benign |
Het |
Or8b1c |
T |
G |
9: 38,384,472 (GRCm39) |
I143S |
probably benign |
Het |
Orc2 |
T |
C |
1: 58,539,523 (GRCm39) |
K39E |
probably benign |
Het |
Ppl |
C |
T |
16: 4,912,373 (GRCm39) |
G736D |
probably benign |
Het |
Ppp2r1a |
A |
G |
17: 21,181,895 (GRCm39) |
E471G |
possibly damaging |
Het |
Prrc2c |
G |
A |
1: 162,548,074 (GRCm39) |
P161S |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,310,893 (GRCm39) |
I804V |
probably benign |
Het |
Saal1 |
A |
G |
7: 46,352,088 (GRCm39) |
C144R |
probably benign |
Het |
Slc29a4 |
G |
A |
5: 142,698,713 (GRCm39) |
V125I |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,305,541 (GRCm39) |
T322A |
probably benign |
Het |
Srgap2 |
A |
T |
1: 131,244,969 (GRCm39) |
M591K |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,528,176 (GRCm39) |
I1478V |
probably benign |
Het |
Tet2 |
A |
G |
3: 133,188,998 (GRCm39) |
|
probably null |
Het |
Tmem150c |
C |
T |
5: 100,243,465 (GRCm39) |
|
probably null |
Het |
Tmem39b |
T |
A |
4: 129,572,366 (GRCm39) |
H412L |
possibly damaging |
Het |
Tox |
A |
C |
4: 6,697,635 (GRCm39) |
H389Q |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,202,158 (GRCm39) |
I1595T |
probably damaging |
Het |
Vmn2r-ps117 |
T |
G |
17: 19,044,967 (GRCm39) |
Y461* |
probably null |
Het |
Vps13a |
T |
C |
19: 16,653,558 (GRCm39) |
H1941R |
probably damaging |
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 |
R6691:Kcnk1
|
UTSW |
8 |
126,751,970 (GRCm39) |
missense |
probably benign |
0.01 |
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'- TGGGATTTGTCACCGTTTCC -3'
(R):5'- ACACAGGAGTCACAGAGCATTG -3'
Sequencing Primer
(F):5'- GGATTTGTCACCGTTTCCTGCTTC -3'
(R):5'- GTCACAGAGCATTGGAAACATAAC -3'
|
Posted On |
2018-11-06 |