Incidental Mutation 'R7346:Kcnt1'
| ID |
570179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnt1
|
| Ensembl Gene |
ENSMUSG00000058740 |
| Gene Name |
potassium channel, subfamily T, member 1 |
| Synonyms |
C030030G16Rik, Slack, slo2 |
| MMRRC Submission |
045373-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R7346 (G1)
|
| Quality Score |
154.008 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25753807-25808285 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 25753855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171268]
[ENSMUST00000198204]
[ENSMUST00000200434]
|
| AlphaFold |
Q6ZPR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171268
|
| SMART Domains |
Protein: ENSMUSP00000132212
Gene: ENSMUSG00000058740
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
78 |
97 |
N/A |
INTRINSIC |
|
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
|
transmembrane domain
|
168 |
190 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
235 |
315 |
5.1e-13 |
PFAM |
|
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
Pfam:BK_channel_a
|
455 |
560 |
3.2e-38 |
PFAM |
|
PDB:3U6N|H
|
774 |
963 |
7e-6 |
PDB |
|
low complexity region
|
1039 |
1056 |
N/A |
INTRINSIC |
|
low complexity region
|
1192 |
1209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198204
|
| SMART Domains |
Protein: ENSMUSP00000142870
Gene: ENSMUSG00000058740
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
64 |
83 |
N/A |
INTRINSIC |
|
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
|
transmembrane domain
|
154 |
176 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
221 |
301 |
5e-11 |
PFAM |
|
transmembrane domain
|
321 |
343 |
N/A |
INTRINSIC |
|
Pfam:BK_channel_a
|
441 |
546 |
1.2e-35 |
PFAM |
|
PDB:3U6N|H
|
760 |
949 |
6e-6 |
PDB |
|
low complexity region
|
1025 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200434
|
| SMART Domains |
Protein: ENSMUSP00000143482
Gene: ENSMUSG00000058740
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
64 |
83 |
N/A |
INTRINSIC |
|
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
|
transmembrane domain
|
154 |
176 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
221 |
301 |
5.1e-11 |
PFAM |
|
transmembrane domain
|
321 |
343 |
N/A |
INTRINSIC |
|
Pfam:BK_channel_a
|
441 |
546 |
1.3e-35 |
PFAM |
|
PDB:3U6N|H
|
758 |
947 |
6e-6 |
PDB |
|
low complexity region
|
1023 |
1040 |
N/A |
INTRINSIC |
|
low complexity region
|
1176 |
1193 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.1%
|
| Validation Efficiency |
100% (71/71) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the Slo potassium channel family that has shown to be activated by both sodium and chloride ions. This channel represents the largest potassium channel subunit yet identified. This channel may be important in development and pain signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired action potential firing in sensory neurons and increased mechanical hypersensitivity in neuropathic pain models. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,914,587 (GRCm39) |
P52S |
unknown |
Het |
| Adarb2 |
A |
G |
13: 8,620,420 (GRCm39) |
E302G |
probably damaging |
Het |
| Adgrf5 |
T |
A |
17: 43,762,070 (GRCm39) |
L1255H |
probably damaging |
Het |
| Adra1a |
T |
A |
14: 66,875,733 (GRCm39) |
I236N |
probably benign |
Het |
| As3mt |
T |
C |
19: 46,708,891 (GRCm39) |
F295S |
probably damaging |
Het |
| Bmp5 |
G |
A |
9: 75,780,642 (GRCm39) |
R313Q |
probably damaging |
Het |
| Ccnj |
T |
A |
19: 40,833,394 (GRCm39) |
S191T |
probably benign |
Het |
| Clk2 |
T |
A |
3: 89,080,852 (GRCm39) |
|
probably null |
Het |
| Cpz |
T |
C |
5: 35,675,000 (GRCm39) |
E83G |
probably damaging |
Het |
| Cts3 |
A |
G |
13: 61,715,434 (GRCm39) |
I133T |
probably benign |
Het |
| Dars2 |
C |
T |
1: 160,874,342 (GRCm39) |
|
probably null |
Het |
| Dsel |
A |
T |
1: 111,788,798 (GRCm39) |
V579D |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,602,076 (GRCm39) |
A2038E |
probably damaging |
Het |
| Eaf1 |
A |
G |
14: 31,216,777 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
A |
C |
2: 82,828,524 (GRCm39) |
I6774L |
probably benign |
Het |
| Glis2 |
T |
C |
16: 4,431,432 (GRCm39) |
F320L |
possibly damaging |
Het |
| Hcar1 |
A |
G |
5: 124,017,693 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,797,104 (GRCm39) |
H2211Q |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,559,496 (GRCm39) |
I2385T |
probably damaging |
Het |
| Ifi44 |
T |
A |
3: 151,438,094 (GRCm39) |
M398L |
probably benign |
Het |
| Il16 |
C |
T |
7: 83,293,249 (GRCm39) |
E1273K |
probably damaging |
Het |
| Inpp5j |
G |
A |
11: 3,451,065 (GRCm39) |
T528I |
probably damaging |
Het |
| Kbtbd6 |
C |
T |
14: 79,690,627 (GRCm39) |
P441S |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,358,306 (GRCm39) |
L139P |
probably damaging |
Het |
| Klb |
C |
T |
5: 65,505,974 (GRCm39) |
Q74* |
probably null |
Het |
| L3mbtl1 |
G |
A |
2: 162,808,926 (GRCm39) |
V600I |
probably benign |
Het |
| Lcp1 |
C |
T |
14: 75,447,946 (GRCm39) |
A317V |
possibly damaging |
Het |
| Lipc |
C |
T |
9: 70,720,029 (GRCm39) |
G326D |
probably damaging |
Het |
| Mbnl2 |
T |
A |
14: 120,616,694 (GRCm39) |
F103I |
probably benign |
Het |
| Mdm1 |
G |
T |
10: 118,000,193 (GRCm39) |
E609* |
probably null |
Het |
| Med16 |
A |
G |
10: 79,744,650 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
C |
2: 119,766,008 (GRCm39) |
V1424A |
possibly damaging |
Het |
| Mocs2 |
G |
T |
13: 114,964,710 (GRCm39) |
|
probably null |
Het |
| Morc1 |
C |
T |
16: 48,451,263 (GRCm39) |
|
probably null |
Het |
| Mpc2 |
T |
A |
1: 165,307,080 (GRCm39) |
W94R |
probably damaging |
Het |
| Mrm3 |
G |
A |
11: 76,141,002 (GRCm39) |
V337I |
possibly damaging |
Het |
| N4bp3 |
T |
C |
11: 51,536,433 (GRCm39) |
H133R |
probably benign |
Het |
| Ncam2 |
G |
T |
16: 81,420,256 (GRCm39) |
G810V |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,373,090 (GRCm39) |
E1052G |
possibly damaging |
Het |
| Nlrp12 |
C |
T |
7: 3,297,887 (GRCm39) |
V95M |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,090,244 (GRCm39) |
N438D |
possibly damaging |
Het |
| Nsun4 |
C |
A |
4: 115,909,035 (GRCm39) |
M508I |
probably benign |
Het |
| Pla2g2c |
T |
C |
4: 138,461,650 (GRCm39) |
S40P |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,082,178 (GRCm39) |
|
probably null |
Het |
| Ppfia2 |
G |
T |
10: 106,693,356 (GRCm39) |
M620I |
possibly damaging |
Het |
| Ppp6c |
A |
G |
2: 39,116,229 (GRCm39) |
Y9H |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,695,617 (GRCm39) |
I47N |
possibly damaging |
Het |
| Prr14l |
T |
C |
5: 32,988,028 (GRCm39) |
D489G |
probably benign |
Het |
| Ptch2 |
T |
A |
4: 116,971,849 (GRCm39) |
Y1124N |
probably benign |
Het |
| Ptpra |
T |
G |
2: 130,395,320 (GRCm39) |
Y808D |
probably damaging |
Het |
| Rint1 |
T |
A |
5: 24,020,651 (GRCm39) |
F558Y |
possibly damaging |
Het |
| Rnf215 |
T |
A |
11: 4,089,792 (GRCm39) |
C268* |
probably null |
Het |
| Slc25a13 |
T |
C |
6: 6,181,100 (GRCm39) |
E28G |
possibly damaging |
Het |
| Slc38a8 |
G |
T |
8: 120,226,554 (GRCm39) |
Y78* |
probably null |
Het |
| Slc4a7 |
T |
C |
14: 14,775,000 (GRCm38) |
M810T |
probably damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,150,591 (GRCm39) |
V40A |
possibly damaging |
Het |
| Sobp |
A |
T |
10: 42,898,831 (GRCm39) |
S251R |
probably damaging |
Het |
| Spata31d1a |
G |
A |
13: 59,851,015 (GRCm39) |
S371L |
probably benign |
Het |
| Tada2b |
T |
C |
5: 36,634,180 (GRCm39) |
T133A |
possibly damaging |
Het |
| Tbc1d20 |
A |
G |
2: 152,146,881 (GRCm39) |
D90G |
probably benign |
Het |
| Tek |
T |
A |
4: 94,715,533 (GRCm39) |
I408K |
probably benign |
Het |
| Tgfb2 |
A |
G |
1: 186,382,077 (GRCm39) |
F150S |
probably benign |
Het |
| Tmem63b |
T |
C |
17: 45,977,517 (GRCm39) |
T370A |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Tspan17 |
C |
G |
13: 54,940,434 (GRCm39) |
L34V |
probably benign |
Het |
| Vmn1r238 |
A |
T |
18: 3,123,151 (GRCm39) |
Y88N |
probably damaging |
Het |
| Vmn1r85 |
A |
G |
7: 12,818,964 (GRCm39) |
I60T |
probably damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,803,029 (GRCm39) |
M313T |
probably benign |
Het |
| Zp3r |
G |
A |
1: 130,511,217 (GRCm39) |
S387F |
probably benign |
Het |
|
| Other mutations in Kcnt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00718:Kcnt1
|
APN |
2 |
25,782,419 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01358:Kcnt1
|
APN |
2 |
25,806,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01593:Kcnt1
|
APN |
2 |
25,788,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01779:Kcnt1
|
APN |
2 |
25,790,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01800:Kcnt1
|
APN |
2 |
25,778,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01834:Kcnt1
|
APN |
2 |
25,802,731 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02001:Kcnt1
|
APN |
2 |
25,798,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02061:Kcnt1
|
APN |
2 |
25,790,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02121:Kcnt1
|
APN |
2 |
25,791,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02646:Kcnt1
|
APN |
2 |
25,790,892 (GRCm39) |
splice site |
probably benign |
|
|
IGL02683:Kcnt1
|
APN |
2 |
25,790,937 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03028:Kcnt1
|
APN |
2 |
25,799,215 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03139:Kcnt1
|
APN |
2 |
25,784,480 (GRCm39) |
splice site |
probably benign |
|
|
R0070:Kcnt1
|
UTSW |
2 |
25,782,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0070:Kcnt1
|
UTSW |
2 |
25,782,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0149:Kcnt1
|
UTSW |
2 |
25,788,276 (GRCm39) |
splice site |
probably benign |
|
|
R0294:Kcnt1
|
UTSW |
2 |
25,778,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0367:Kcnt1
|
UTSW |
2 |
25,797,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Kcnt1
|
UTSW |
2 |
25,782,508 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0666:Kcnt1
|
UTSW |
2 |
25,781,255 (GRCm39) |
splice site |
probably benign |
|
|
R1364:Kcnt1
|
UTSW |
2 |
25,798,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1553:Kcnt1
|
UTSW |
2 |
25,790,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Kcnt1
|
UTSW |
2 |
25,790,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1999:Kcnt1
|
UTSW |
2 |
25,782,372 (GRCm39) |
missense |
probably benign |
|
|
R2079:Kcnt1
|
UTSW |
2 |
25,790,260 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2166:Kcnt1
|
UTSW |
2 |
25,781,195 (GRCm39) |
splice site |
probably benign |
|
|
R2295:Kcnt1
|
UTSW |
2 |
25,790,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3688:Kcnt1
|
UTSW |
2 |
25,784,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3820:Kcnt1
|
UTSW |
2 |
25,790,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Kcnt1
|
UTSW |
2 |
25,805,880 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3980:Kcnt1
|
UTSW |
2 |
25,783,226 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4031:Kcnt1
|
UTSW |
2 |
25,806,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4093:Kcnt1
|
UTSW |
2 |
25,767,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4361:Kcnt1
|
UTSW |
2 |
25,768,044 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4367:Kcnt1
|
UTSW |
2 |
25,797,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Kcnt1
|
UTSW |
2 |
25,798,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5005:Kcnt1
|
UTSW |
2 |
25,791,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Kcnt1
|
UTSW |
2 |
25,799,334 (GRCm39) |
intron |
probably benign |
|
|
R5223:Kcnt1
|
UTSW |
2 |
25,793,434 (GRCm39) |
missense |
probably benign |
|
|
R5243:Kcnt1
|
UTSW |
2 |
25,798,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5323:Kcnt1
|
UTSW |
2 |
25,799,289 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5665:Kcnt1
|
UTSW |
2 |
25,791,921 (GRCm39) |
nonsense |
probably null |
|
|
R5888:Kcnt1
|
UTSW |
2 |
25,798,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Kcnt1
|
UTSW |
2 |
25,788,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Kcnt1
|
UTSW |
2 |
25,784,536 (GRCm39) |
intron |
probably benign |
|
|
R5927:Kcnt1
|
UTSW |
2 |
25,799,388 (GRCm39) |
intron |
probably benign |
|
|
R6160:Kcnt1
|
UTSW |
2 |
25,782,395 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6161:Kcnt1
|
UTSW |
2 |
25,793,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6179:Kcnt1
|
UTSW |
2 |
25,783,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6222:Kcnt1
|
UTSW |
2 |
25,782,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6268:Kcnt1
|
UTSW |
2 |
25,793,609 (GRCm39) |
splice site |
probably null |
|
|
R6336:Kcnt1
|
UTSW |
2 |
25,778,767 (GRCm39) |
splice site |
probably null |
|
|
R6395:Kcnt1
|
UTSW |
2 |
25,799,251 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6564:Kcnt1
|
UTSW |
2 |
25,801,063 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6944:Kcnt1
|
UTSW |
2 |
25,767,840 (GRCm39) |
intron |
probably benign |
|
|
R7236:Kcnt1
|
UTSW |
2 |
25,799,951 (GRCm39) |
splice site |
probably null |
|
|
R7308:Kcnt1
|
UTSW |
2 |
25,790,475 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7419:Kcnt1
|
UTSW |
2 |
25,806,011 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7461:Kcnt1
|
UTSW |
2 |
25,791,358 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7470:Kcnt1
|
UTSW |
2 |
25,799,845 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7566:Kcnt1
|
UTSW |
2 |
25,806,048 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7613:Kcnt1
|
UTSW |
2 |
25,791,358 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7778:Kcnt1
|
UTSW |
2 |
25,791,901 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8031:Kcnt1
|
UTSW |
2 |
25,798,054 (GRCm39) |
splice site |
probably benign |
|
|
R8088:Kcnt1
|
UTSW |
2 |
25,784,326 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8113:Kcnt1
|
UTSW |
2 |
25,791,223 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8378:Kcnt1
|
UTSW |
2 |
25,797,283 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8954:Kcnt1
|
UTSW |
2 |
25,784,338 (GRCm39) |
missense |
probably benign |
|
|
R9231:Kcnt1
|
UTSW |
2 |
25,801,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9445:Kcnt1
|
UTSW |
2 |
25,767,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9733:Kcnt1
|
UTSW |
2 |
25,797,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Kcnt1
|
UTSW |
2 |
25,796,808 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1177:Kcnt1
|
UTSW |
2 |
25,799,277 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Kcnt1
|
UTSW |
2 |
25,791,240 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTAGCCATGACCACTCCC -3'
(R):5'- TCACGGAATCGGTACCTTGG -3'
Sequencing Primer
(F):5'- GCCATGACCACTCCCATCCG -3'
(R):5'- ATCGGTACCTTGGCGGCAAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation