Incidental Mutation 'R4451:Kcns1'
| ID |
328952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcns1
|
| Ensembl Gene |
ENSMUSG00000040164 |
| Gene Name |
K+ voltage-gated channel, subfamily S, 1 |
| Synonyms |
Kv9.1 |
| MMRRC Submission |
041712-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R4451 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164005539-164013033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 164010598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 54
(E54K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045196]
|
| AlphaFold |
O35173 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045196
AA Change: E54K
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000038901
Gene: ENSMUSG00000040164
AA Change: E54K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
19 |
128 |
7.07e-7 |
SMART |
|
low complexity region
|
160 |
175 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
188 |
439 |
2e-44 |
PFAM |
|
Pfam:Ion_trans_2
|
349 |
433 |
5e-13 |
PFAM |
|
low complexity region
|
455 |
468 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0612 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (43/43) |
| 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. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
C |
5: 62,906,513 (GRCm39) |
F169V |
probably benign |
Het |
| Baiap2l1 |
T |
A |
5: 144,215,362 (GRCm39) |
Y381F |
probably damaging |
Het |
| Cdc27 |
A |
T |
11: 104,408,221 (GRCm39) |
M563K |
probably benign |
Het |
| Cela3b |
G |
A |
4: 137,148,355 (GRCm39) |
|
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,279,270 (GRCm39) |
D50V |
probably damaging |
Het |
| Dbpht2 |
A |
T |
12: 74,345,806 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah9 |
T |
A |
11: 65,772,467 (GRCm39) |
Q3755L |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,962,792 (GRCm39) |
T588A |
possibly damaging |
Het |
| Dync2h1 |
T |
A |
9: 6,983,477 (GRCm39) |
R4022S |
probably benign |
Het |
| Gm20481 |
T |
G |
17: 35,191,109 (GRCm39) |
|
probably benign |
Het |
| Gm7347 |
A |
G |
5: 26,260,004 (GRCm39) |
I182T |
possibly damaging |
Het |
| Gns |
G |
A |
10: 121,212,601 (GRCm39) |
G188S |
probably damaging |
Het |
| Grm5 |
T |
G |
7: 87,724,340 (GRCm39) |
|
probably null |
Het |
| Gstm4 |
T |
C |
3: 107,951,291 (GRCm39) |
|
probably null |
Het |
| Il7r |
T |
A |
15: 9,513,034 (GRCm39) |
K158N |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,266,749 (GRCm39) |
Y489C |
probably benign |
Het |
| Klra5 |
T |
A |
6: 129,885,797 (GRCm39) |
R31* |
probably null |
Het |
| Krt13 |
T |
C |
11: 100,008,827 (GRCm39) |
T409A |
unknown |
Het |
| Lce1e |
C |
T |
3: 92,614,967 (GRCm39) |
G127S |
unknown |
Het |
| Mfsd14a |
T |
C |
3: 116,456,127 (GRCm39) |
M1V |
probably null |
Het |
| Micall2 |
T |
C |
5: 139,692,852 (GRCm39) |
E891G |
probably damaging |
Het |
| Mpeg1 |
A |
T |
19: 12,440,596 (GRCm39) |
K685* |
probably null |
Het |
| Nbea |
A |
G |
3: 55,899,753 (GRCm39) |
|
probably null |
Het |
| Nup155 |
A |
G |
15: 8,180,366 (GRCm39) |
M1148V |
probably benign |
Het |
| Or51aa5 |
A |
G |
7: 103,167,184 (GRCm39) |
S136P |
probably damaging |
Het |
| Or5m3b |
T |
C |
2: 85,872,303 (GRCm39) |
S215P |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,542,508 (GRCm39) |
D695V |
possibly damaging |
Het |
| Ptf1a |
G |
T |
2: 19,451,092 (GRCm39) |
A141S |
possibly damaging |
Het |
| Pxmp2 |
A |
T |
5: 110,425,531 (GRCm39) |
V168E |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,644,505 (GRCm39) |
K427E |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,475,232 (GRCm39) |
V526A |
probably damaging |
Het |
| Tbx2 |
T |
C |
11: 85,731,643 (GRCm39) |
S647P |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,637,996 (GRCm39) |
T651A |
probably benign |
Het |
| Trim68 |
T |
A |
7: 102,333,680 (GRCm39) |
M1L |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,584,250 (GRCm39) |
L20540* |
probably null |
Het |
| Usf3 |
A |
T |
16: 44,038,251 (GRCm39) |
K910N |
possibly damaging |
Het |
| Vmn1r14 |
T |
G |
6: 57,211,213 (GRCm39) |
Y220D |
possibly damaging |
Het |
| Vmn1r209 |
T |
A |
13: 22,990,668 (GRCm39) |
K7N |
probably benign |
Het |
|
| Other mutations in Kcns1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0013:Kcns1
|
UTSW |
2 |
164,010,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0135:Kcns1
|
UTSW |
2 |
164,006,875 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0241:Kcns1
|
UTSW |
2 |
164,010,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Kcns1
|
UTSW |
2 |
164,010,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2877:Kcns1
|
UTSW |
2 |
164,006,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2878:Kcns1
|
UTSW |
2 |
164,006,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3157:Kcns1
|
UTSW |
2 |
164,006,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4013:Kcns1
|
UTSW |
2 |
164,010,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Kcns1
|
UTSW |
2 |
164,010,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4875:Kcns1
|
UTSW |
2 |
164,010,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5270:Kcns1
|
UTSW |
2 |
164,010,249 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5493:Kcns1
|
UTSW |
2 |
164,009,899 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5775:Kcns1
|
UTSW |
2 |
164,006,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6931:Kcns1
|
UTSW |
2 |
164,006,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7689:Kcns1
|
UTSW |
2 |
164,010,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8304:Kcns1
|
UTSW |
2 |
164,010,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9044:Kcns1
|
UTSW |
2 |
164,009,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9195:Kcns1
|
UTSW |
2 |
164,009,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9414:Kcns1
|
UTSW |
2 |
164,010,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Kcns1
|
UTSW |
2 |
164,010,553 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATTCTCCATGGTGAGCC -3'
(R):5'- TTTAACCAACAGGGAGGCAC -3'
Sequencing Primer
(F):5'- AGATCTCGTCGGGACACG -3'
(R):5'- ACACTGTCGTAGCCATGGTGAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation