Incidental Mutation 'R8310:Kcnn1'
| ID |
641327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnn1
|
| Ensembl Gene |
ENSMUSG00000002908 |
| Gene Name |
potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 |
| Synonyms |
SK1 |
| MMRRC Submission |
067795-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8310 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71294693-71315902 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71305449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 254
(S254T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110078]
[ENSMUST00000110081]
[ENSMUST00000212086]
[ENSMUST00000212243]
[ENSMUST00000212414]
[ENSMUST00000212509]
[ENSMUST00000212611]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110078
AA Change: S254T
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105705
Gene: ENSMUSG00000002908
AA Change: S254T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
76 |
N/A |
INTRINSIC |
|
Pfam:SK_channel
|
90 |
208 |
3.7e-59 |
PFAM |
|
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
275 |
369 |
9.6e-16 |
PFAM |
|
CaMBD
|
382 |
461 |
1.99e-46 |
SMART |
|
low complexity region
|
467 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
516 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110081
AA Change: S254T
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105708
Gene: ENSMUSG00000002908
AA Change: S254T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
76 |
N/A |
INTRINSIC |
|
Pfam:SK_channel
|
90 |
203 |
4.9e-51 |
PFAM |
|
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
274 |
368 |
1.7e-15 |
PFAM |
|
CaMBD
|
382 |
462 |
3.71e-46 |
SMART |
|
low complexity region
|
468 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212084
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212086
AA Change: S297T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212243
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212414
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212509
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212611
AA Change: S254T
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display normal hippocampal morphology and afterhyperpolarization currents. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
G |
13: 48,667,727 (GRCm39) |
W10G |
unknown |
Het |
| Abca13 |
A |
T |
11: 9,328,269 (GRCm39) |
K3447N |
possibly damaging |
Het |
| Agtr1a |
T |
G |
13: 30,565,745 (GRCm39) |
V270G |
probably benign |
Het |
| Apob |
A |
T |
12: 8,059,033 (GRCm39) |
H2505L |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,850,629 (GRCm39) |
V86D |
possibly damaging |
Het |
| Cacna1s |
C |
A |
1: 136,015,075 (GRCm39) |
N654K |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,506,469 (GRCm39) |
|
probably benign |
Het |
| Ccdc8 |
T |
C |
7: 16,729,326 (GRCm39) |
S272P |
probably damaging |
Het |
| Cnksr1 |
T |
C |
4: 133,956,730 (GRCm39) |
E510G |
probably damaging |
Het |
| Cnot6l |
A |
T |
5: 96,239,535 (GRCm39) |
D255E |
probably benign |
Het |
| Ddx1 |
A |
C |
12: 13,274,280 (GRCm39) |
|
probably benign |
Het |
| Dyrk1a |
A |
G |
16: 94,492,650 (GRCm39) |
T628A |
probably benign |
Het |
| Elavl1 |
A |
T |
8: 4,351,786 (GRCm39) |
I110N |
probably damaging |
Het |
| Emilin2 |
C |
G |
17: 71,562,141 (GRCm39) |
D954H |
probably damaging |
Het |
| Erich3 |
C |
T |
3: 154,410,586 (GRCm39) |
T147I |
|
Het |
| Galnt1 |
A |
T |
18: 24,404,686 (GRCm39) |
H341L |
probably damaging |
Het |
| Gm14325 |
A |
T |
2: 177,473,592 (GRCm39) |
C497S |
probably damaging |
Het |
| Gm4922 |
A |
T |
10: 18,659,536 (GRCm39) |
N395K |
probably benign |
Het |
| Hsd17b2 |
G |
A |
8: 118,469,155 (GRCm39) |
C189Y |
probably damaging |
Het |
| Lce1l |
G |
C |
3: 92,757,766 (GRCm39) |
P31A |
unknown |
Het |
| Lrpprc |
A |
G |
17: 85,080,524 (GRCm39) |
Y199H |
probably damaging |
Het |
| Lrrtm3 |
A |
T |
10: 63,925,487 (GRCm39) |
|
probably null |
Het |
| Mon2 |
G |
T |
10: 122,838,688 (GRCm39) |
A1598E |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,986,833 (GRCm39) |
|
probably null |
Het |
| Naa11 |
A |
T |
5: 97,539,737 (GRCm39) |
D140E |
probably damaging |
Het |
| Nadk2 |
G |
A |
15: 9,103,420 (GRCm39) |
R350Q |
probably benign |
Het |
| Npc1 |
T |
C |
18: 12,326,455 (GRCm39) |
I1162V |
probably damaging |
Het |
| Or4e1 |
A |
G |
14: 52,701,280 (GRCm39) |
M62T |
probably damaging |
Het |
| Or5v1 |
T |
C |
17: 37,810,148 (GRCm39) |
I202T |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,613,461 (GRCm39) |
N2001K |
possibly damaging |
Het |
| Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,171,912 (GRCm39) |
|
probably null |
Het |
| Ppp2r5c |
A |
T |
12: 110,512,259 (GRCm39) |
T185S |
possibly damaging |
Het |
| Psd2 |
A |
T |
18: 36,112,766 (GRCm39) |
S154C |
probably damaging |
Het |
| Rnasel |
G |
A |
1: 153,630,734 (GRCm39) |
V417M |
possibly damaging |
Het |
| Slc35g2 |
A |
G |
9: 100,434,841 (GRCm39) |
S277P |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,070,158 (GRCm39) |
W140R |
possibly damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,340,250 (GRCm39) |
K512E |
probably damaging |
Het |
| Sox7 |
C |
T |
14: 64,181,275 (GRCm39) |
S24L |
probably benign |
Het |
| Specc1 |
A |
G |
11: 62,023,171 (GRCm39) |
K659E |
probably damaging |
Het |
| Stx18 |
T |
A |
5: 38,285,383 (GRCm39) |
|
probably null |
Het |
| Svs5 |
C |
A |
2: 164,080,091 (GRCm39) |
G25W |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,297,829 (GRCm39) |
M1156T |
probably benign |
Het |
| Tars2 |
T |
A |
3: 95,658,271 (GRCm39) |
I185F |
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,396,612 (GRCm39) |
I839V |
|
Het |
| Vmn1r115 |
T |
C |
7: 20,578,819 (GRCm39) |
N31S |
probably damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,224,024 (GRCm39) |
D183G |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,868,756 (GRCm39) |
T275I |
probably damaging |
Het |
| Ybx2 |
A |
G |
11: 69,831,194 (GRCm39) |
E263G |
probably damaging |
Het |
| Zbtb6 |
G |
T |
2: 37,319,896 (GRCm39) |
Q11K |
probably benign |
Het |
| Zfp329 |
A |
T |
7: 12,544,116 (GRCm39) |
C469* |
probably null |
Het |
| Zfp868 |
A |
T |
8: 70,066,446 (GRCm39) |
L40H |
probably damaging |
Het |
|
| Other mutations in Kcnn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Kcnn1
|
APN |
8 |
71,300,706 (GRCm39) |
missense |
probably benign |
|
|
IGL00498:Kcnn1
|
APN |
8 |
71,305,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00792:Kcnn1
|
APN |
8 |
71,307,360 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03122:Kcnn1
|
APN |
8 |
71,307,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03137:Kcnn1
|
APN |
8 |
71,303,381 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03222:Kcnn1
|
APN |
8 |
71,300,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03226:Kcnn1
|
APN |
8 |
71,299,135 (GRCm39) |
splice site |
probably benign |
|
|
R0586:Kcnn1
|
UTSW |
8 |
71,316,513 (GRCm39) |
unclassified |
probably benign |
|
|
R1218:Kcnn1
|
UTSW |
8 |
71,305,332 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1437:Kcnn1
|
UTSW |
8 |
71,297,195 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1510:Kcnn1
|
UTSW |
8 |
71,316,714 (GRCm39) |
unclassified |
probably benign |
|
|
R2434:Kcnn1
|
UTSW |
8 |
71,307,810 (GRCm39) |
small deletion |
probably benign |
|
|
R2860:Kcnn1
|
UTSW |
8 |
71,299,179 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2861:Kcnn1
|
UTSW |
8 |
71,299,179 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4327:Kcnn1
|
UTSW |
8 |
71,305,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4807:Kcnn1
|
UTSW |
8 |
71,300,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4947:Kcnn1
|
UTSW |
8 |
71,297,073 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5265:Kcnn1
|
UTSW |
8 |
71,307,297 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5685:Kcnn1
|
UTSW |
8 |
71,305,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6108:Kcnn1
|
UTSW |
8 |
71,307,800 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6523:Kcnn1
|
UTSW |
8 |
71,299,169 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7512:Kcnn1
|
UTSW |
8 |
71,307,293 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8219:Kcnn1
|
UTSW |
8 |
71,305,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8809:Kcnn1
|
UTSW |
8 |
71,305,297 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9084:Kcnn1
|
UTSW |
8 |
71,307,810 (GRCm39) |
small deletion |
probably benign |
|
|
R9308:Kcnn1
|
UTSW |
8 |
71,305,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGGGTTCAAGGACAGGAC -3'
(R):5'- TCTTGGTGGACAATGGTGCC -3'
Sequencing Primer
(F):5'- ACAGGACGGGGGTGGTC -3'
(R):5'- ACAATGGTGCCGACGACTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation