Incidental Mutation 'R1549:Kcns3'
| ID |
169796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcns3
|
| Ensembl Gene |
ENSMUSG00000043673 |
| Gene Name |
potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 |
| Synonyms |
D12Ertd137e |
| MMRRC Submission |
039588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R1549 (G1)
|
| Quality Score |
201 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
11140738-11201186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11142084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 205
(H205R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055673]
[ENSMUST00000164495]
[ENSMUST00000217974]
|
| AlphaFold |
Q8BQZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055673
AA Change: H205R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060706
Gene: ENSMUSG00000043673
AA Change: H205R
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
15 |
124 |
1.2e-12 |
SMART |
|
low complexity region
|
144 |
162 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
184 |
417 |
5.2e-47 |
PFAM |
|
Pfam:Ion_trans_2
|
325 |
411 |
3.2e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164495
AA Change: H205R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129412
Gene: ENSMUSG00000043673
AA Change: H205R
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
15 |
124 |
1.2e-12 |
SMART |
|
low complexity region
|
144 |
162 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
184 |
417 |
5.2e-47 |
PFAM |
|
Pfam:Ion_trans_2
|
325 |
411 |
3.2e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217974
AA Change: H205R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.5051 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 90.8%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,210,441 (GRCm39) |
I157K |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,837,812 (GRCm39) |
N727Y |
probably benign |
Het |
| Atg16l1 |
A |
G |
1: 87,701,910 (GRCm39) |
T251A |
probably benign |
Het |
| Bcl11b |
T |
A |
12: 107,883,422 (GRCm39) |
I226F |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,969,737 (GRCm39) |
H4260R |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,670,920 (GRCm39) |
I85T |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,853,373 (GRCm39) |
|
probably benign |
Het |
| Ccnd1 |
T |
G |
7: 144,491,073 (GRCm39) |
I178L |
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,294,681 (GRCm39) |
V329A |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,637,349 (GRCm39) |
|
probably benign |
Het |
| Col7a1 |
A |
G |
9: 108,785,034 (GRCm39) |
T254A |
unknown |
Het |
| Ctif |
C |
A |
18: 75,698,096 (GRCm39) |
R188L |
probably damaging |
Het |
| Cyp2c69 |
A |
T |
19: 39,831,430 (GRCm39) |
L461Q |
probably benign |
Het |
| Ddc |
A |
G |
11: 11,796,656 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
T |
A |
1: 123,269,109 (GRCm39) |
|
probably null |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Eif2b4 |
T |
C |
5: 31,350,265 (GRCm39) |
E19G |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,832,308 (GRCm39) |
L269P |
possibly damaging |
Het |
| Gm2381 |
T |
A |
7: 42,471,825 (GRCm39) |
H18L |
probably benign |
Het |
| Gpbp1 |
G |
T |
13: 111,573,113 (GRCm39) |
D326E |
probably benign |
Het |
| Gpr162 |
C |
T |
6: 124,837,051 (GRCm39) |
R331H |
probably damaging |
Het |
| Iigp1 |
G |
A |
18: 60,522,948 (GRCm39) |
G22D |
probably benign |
Het |
| Klk1b26 |
C |
T |
7: 43,665,826 (GRCm39) |
|
probably benign |
Het |
| Lime1 |
A |
G |
2: 181,025,169 (GRCm39) |
Y242C |
probably benign |
Het |
| Manba |
A |
G |
3: 135,250,567 (GRCm39) |
D398G |
probably damaging |
Het |
| Mapk3 |
A |
T |
7: 126,362,684 (GRCm39) |
K219* |
probably null |
Het |
| Mdfic |
G |
T |
6: 15,799,844 (GRCm39) |
G324C |
probably damaging |
Het |
| Mdga1 |
G |
A |
17: 30,056,972 (GRCm39) |
H837Y |
probably damaging |
Het |
| Nck1 |
T |
A |
9: 100,379,925 (GRCm39) |
M109L |
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,256,076 (GRCm39) |
I194V |
probably benign |
Het |
| Or2w1b |
T |
C |
13: 21,300,288 (GRCm39) |
V142A |
probably benign |
Het |
| Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
| Phf3 |
C |
T |
1: 30,843,923 (GRCm39) |
V1679I |
probably benign |
Het |
| Pou4f1 |
T |
C |
14: 104,705,076 (GRCm39) |
I32V |
probably benign |
Het |
| Pspc1 |
T |
G |
14: 56,986,398 (GRCm39) |
H351P |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,883,578 (GRCm39) |
E829G |
probably damaging |
Het |
| Rab23 |
A |
G |
1: 33,777,378 (GRCm39) |
Y164C |
possibly damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,033,596 (GRCm39) |
W141R |
probably damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,267 (GRCm39) |
E446G |
possibly damaging |
Het |
| Stim2 |
G |
A |
5: 54,262,667 (GRCm39) |
R303Q |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,451,579 (GRCm39) |
I550V |
probably benign |
Het |
| Tmed3 |
A |
C |
9: 89,581,998 (GRCm39) |
L155R |
probably damaging |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,284,799 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
| Usp16 |
G |
T |
16: 87,261,722 (GRCm39) |
V113F |
probably damaging |
Het |
| Vmn2r12 |
T |
G |
5: 109,240,696 (GRCm39) |
Y139S |
probably benign |
Het |
| Vmn2r5 |
G |
T |
3: 64,411,421 (GRCm39) |
D382E |
probably damaging |
Het |
| Zfp1010 |
T |
C |
2: 176,957,378 (GRCm39) |
E40G |
probably damaging |
Het |
| Zfp217 |
A |
C |
2: 169,956,390 (GRCm39) |
N869K |
probably benign |
Het |
| Zswim2 |
G |
T |
2: 83,754,092 (GRCm39) |
D189E |
probably benign |
Het |
|
| Other mutations in Kcns3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01010:Kcns3
|
APN |
12 |
11,142,427 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01089:Kcns3
|
APN |
12 |
11,141,572 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01448:Kcns3
|
APN |
12 |
11,141,644 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02084:Kcns3
|
APN |
12 |
11,142,195 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02229:Kcns3
|
APN |
12 |
11,142,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02730:Kcns3
|
APN |
12 |
11,142,076 (GRCm39) |
missense |
probably benign |
|
|
IGL02820:Kcns3
|
APN |
12 |
11,141,872 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03390:Kcns3
|
APN |
12 |
11,141,233 (GRCm39) |
missense |
probably benign |
|
|
PIT4696001:Kcns3
|
UTSW |
12 |
11,142,749 (GRCm39) |
start gained |
probably benign |
|
|
R0583:Kcns3
|
UTSW |
12 |
11,141,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0629:Kcns3
|
UTSW |
12 |
11,142,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1571:Kcns3
|
UTSW |
12 |
11,141,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1755:Kcns3
|
UTSW |
12 |
11,141,445 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2507:Kcns3
|
UTSW |
12 |
11,142,087 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4348:Kcns3
|
UTSW |
12 |
11,141,382 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4667:Kcns3
|
UTSW |
12 |
11,141,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Kcns3
|
UTSW |
12 |
11,141,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5704:Kcns3
|
UTSW |
12 |
11,142,328 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5770:Kcns3
|
UTSW |
12 |
11,142,250 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6882:Kcns3
|
UTSW |
12 |
11,142,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7014:Kcns3
|
UTSW |
12 |
11,141,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7935:Kcns3
|
UTSW |
12 |
11,141,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8025:Kcns3
|
UTSW |
12 |
11,141,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8161:Kcns3
|
UTSW |
12 |
11,169,764 (GRCm39) |
start gained |
probably benign |
|
|
R8210:Kcns3
|
UTSW |
12 |
11,142,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8403:Kcns3
|
UTSW |
12 |
11,141,654 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8726:Kcns3
|
UTSW |
12 |
11,141,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9175:Kcns3
|
UTSW |
12 |
11,169,801 (GRCm39) |
start gained |
probably benign |
|
|
R9287:Kcns3
|
UTSW |
12 |
11,141,601 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACAGCCAACGTGGCATAGAAG -3'
(R):5'- AACGATGTGAGCACAGACTCCTCC -3'
Sequencing Primer
(F):5'- CAACGTGGCATAGAAGGGAATG -3'
(R):5'- TGAGATTTGGTCAGCTCCGA -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation