Incidental Mutation 'R7470:Kcnt1'
| ID |
579085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnt1
|
| Ensembl Gene |
ENSMUSG00000058740 |
| Gene Name |
potassium channel, subfamily T, member 1 |
| Synonyms |
C030030G16Rik, Slack, slo2 |
| MMRRC Submission |
045544-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R7470 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25753807-25808285 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 25799845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 997
(D997A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037580]
[ENSMUST00000114172]
[ENSMUST00000114176]
[ENSMUST00000153001]
[ENSMUST00000171268]
[ENSMUST00000197917]
[ENSMUST00000198204]
[ENSMUST00000200434]
|
| AlphaFold |
Q6ZPR4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037580
AA Change: D997A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039058
Gene: ENSMUSG00000058740
AA Change: D997A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
98 |
117 |
N/A |
INTRINSIC |
|
transmembrane domain
|
157 |
179 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
252 |
335 |
1.3e-12 |
PFAM |
|
transmembrane domain
|
355 |
377 |
N/A |
INTRINSIC |
|
Pfam:BK_channel_a
|
477 |
579 |
5.8e-32 |
PFAM |
|
PDB:3U6N|H
|
794 |
983 |
6e-6 |
PDB |
|
low complexity region
|
1059 |
1076 |
N/A |
INTRINSIC |
|
low complexity region
|
1212 |
1229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114172
AA Change: D983A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109809
Gene: ENSMUSG00000058740
AA Change: D983A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
98 |
117 |
N/A |
INTRINSIC |
|
transmembrane domain
|
157 |
179 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
255 |
335 |
5.2e-13 |
PFAM |
|
transmembrane domain
|
355 |
377 |
N/A |
INTRINSIC |
|
Pfam:BK_channel_a
|
475 |
580 |
3.3e-38 |
PFAM |
|
PDB:3U6N|H
|
792 |
981 |
7e-6 |
PDB |
|
low complexity region
|
1057 |
1074 |
N/A |
INTRINSIC |
|
low complexity region
|
1210 |
1227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114176
AA Change: D997A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109813
Gene: ENSMUSG00000058740
AA Change: D997A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
98 |
117 |
N/A |
INTRINSIC |
|
transmembrane domain
|
157 |
179 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
255 |
335 |
5.1e-13 |
PFAM |
|
transmembrane domain
|
355 |
377 |
N/A |
INTRINSIC |
|
Pfam:BK_channel_a
|
475 |
580 |
3.2e-38 |
PFAM |
|
PDB:3U6N|H
|
794 |
983 |
6e-6 |
PDB |
|
low complexity region
|
1059 |
1076 |
N/A |
INTRINSIC |
|
low complexity region
|
1191 |
1208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153001
AA Change: D305A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142532
Gene: ENSMUSG00000058740
AA Change: D305A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4HPF|B
|
79 |
285 |
6e-9 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171268
AA Change: D977A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132212
Gene: ENSMUSG00000058740
AA Change: D977A
| 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 damaging
Transcript: ENSMUST00000197917
AA Change: D995A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143106
Gene: ENSMUSG00000058740
AA Change: D995A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
98 |
117 |
N/A |
INTRINSIC |
|
transmembrane domain
|
157 |
179 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
255 |
335 |
5.2e-13 |
PFAM |
|
transmembrane domain
|
355 |
377 |
N/A |
INTRINSIC |
|
Pfam:BK_channel_a
|
475 |
580 |
3.3e-38 |
PFAM |
|
PDB:3U6N|H
|
792 |
981 |
7e-6 |
PDB |
|
low complexity region
|
1057 |
1074 |
N/A |
INTRINSIC |
|
low complexity region
|
1210 |
1227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198204
AA Change: D963A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142870
Gene: ENSMUSG00000058740
AA Change: D963A
| 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 damaging
Transcript: ENSMUST00000200434
AA Change: D961A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143482
Gene: ENSMUSG00000058740
AA Change: D961A
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
T |
9: 55,898,622 (GRCm39) |
V238E |
possibly damaging |
Het |
| Actn3 |
G |
A |
19: 4,917,842 (GRCm39) |
S375L |
possibly damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,319,810 (GRCm39) |
T476A |
probably benign |
Het |
| Afm |
T |
A |
5: 90,679,486 (GRCm39) |
S327T |
probably damaging |
Het |
| Apol7e |
T |
A |
15: 77,602,143 (GRCm39) |
M247K |
probably benign |
Het |
| Aqp12 |
T |
A |
1: 92,936,385 (GRCm39) |
L237Q |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,951,848 (GRCm39) |
S63T |
probably damaging |
Het |
| Axdnd1 |
T |
A |
1: 156,204,086 (GRCm39) |
E393V |
|
Het |
| Cacna1g |
T |
A |
11: 94,352,765 (GRCm39) |
D365V |
possibly damaging |
Het |
| Ccdc3 |
T |
A |
2: 5,143,115 (GRCm39) |
V124E |
possibly damaging |
Het |
| Ccr7 |
C |
T |
11: 99,036,383 (GRCm39) |
V180M |
possibly damaging |
Het |
| Cd47 |
T |
A |
16: 49,704,585 (GRCm39) |
I119K |
|
Het |
| Cenpe |
A |
T |
3: 134,947,916 (GRCm39) |
L1158F |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,648,736 (GRCm39) |
R207G |
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,423,708 (GRCm39) |
Y220C |
probably benign |
Het |
| Ddhd2 |
A |
G |
8: 26,225,087 (GRCm39) |
F577L |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,667,528 (GRCm39) |
E537G |
probably damaging |
Het |
| Disp3 |
A |
T |
4: 148,345,527 (GRCm39) |
C438S |
possibly damaging |
Het |
| Dock3 |
A |
G |
9: 106,882,644 (GRCm39) |
S380P |
probably damaging |
Het |
| Ehmt2 |
A |
G |
17: 35,118,372 (GRCm39) |
E106G |
possibly damaging |
Het |
| Fmnl2 |
A |
T |
2: 52,932,377 (GRCm39) |
I119F |
probably damaging |
Het |
| Gm11554 |
A |
C |
11: 99,695,190 (GRCm39) |
S8A |
unknown |
Het |
| Grm7 |
A |
G |
6: 111,478,476 (GRCm39) |
I54V |
|
Het |
| Hbs1l |
T |
C |
10: 21,234,683 (GRCm39) |
F579L |
possibly damaging |
Het |
| Hgf |
C |
A |
5: 16,823,854 (GRCm39) |
Q684K |
probably benign |
Het |
| Igsf3 |
T |
C |
3: 101,358,391 (GRCm39) |
Y741H |
possibly damaging |
Het |
| Il17rb |
C |
A |
14: 29,719,990 (GRCm39) |
G304W |
probably damaging |
Het |
| Ino80c |
C |
T |
18: 24,241,895 (GRCm39) |
W163* |
probably null |
Het |
| Klf7 |
C |
T |
1: 64,081,472 (GRCm39) |
|
probably null |
Het |
| Lingo1 |
T |
C |
9: 56,527,908 (GRCm39) |
Y233C |
probably damaging |
Het |
| Lmo7 |
C |
A |
14: 102,138,040 (GRCm39) |
T914K |
possibly damaging |
Het |
| Mark1 |
G |
T |
1: 184,660,241 (GRCm39) |
Y138* |
probably null |
Het |
| Mcm3ap |
C |
A |
10: 76,344,231 (GRCm39) |
T1791K |
probably damaging |
Het |
| Mcts2 |
T |
C |
2: 152,529,582 (GRCm39) |
I131T |
probably benign |
Het |
| Mipep |
A |
G |
14: 61,040,344 (GRCm39) |
D288G |
probably benign |
Het |
| Ms4a8a |
T |
A |
19: 11,053,714 (GRCm39) |
N131Y |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,809,456 (GRCm39) |
E232G |
probably benign |
Het |
| Nat10 |
C |
T |
2: 103,565,226 (GRCm39) |
A452T |
probably benign |
Het |
| Nfatc2 |
G |
A |
2: 168,365,227 (GRCm39) |
Q596* |
probably null |
Het |
| Nudt13 |
G |
T |
14: 20,359,791 (GRCm39) |
G173W |
probably damaging |
Het |
| Or10n1 |
C |
A |
9: 39,524,998 (GRCm39) |
T45K |
probably benign |
Het |
| Or1e16 |
T |
A |
11: 73,286,714 (GRCm39) |
I45F |
probably damaging |
Het |
| Or5l14 |
A |
T |
2: 87,792,793 (GRCm39) |
C148S |
possibly damaging |
Het |
| Or8b4 |
T |
A |
9: 37,830,592 (GRCm39) |
I213N |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,399,989 (GRCm39) |
V901A |
probably benign |
Het |
| Pah |
G |
A |
10: 87,399,286 (GRCm39) |
R155Q |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,365,008 (GRCm39) |
H1130R |
probably benign |
Het |
| Pnliprp1 |
A |
G |
19: 58,720,457 (GRCm39) |
N111S |
possibly damaging |
Het |
| Ppp1r21 |
T |
C |
17: 88,869,649 (GRCm39) |
Y401H |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,074,997 (GRCm39) |
K466R |
probably null |
Het |
| Ralgapa2 |
A |
G |
2: 146,266,587 (GRCm39) |
L663P |
probably damaging |
Het |
| Reg3d |
A |
T |
6: 78,353,071 (GRCm39) |
C171S |
possibly damaging |
Het |
| Reln |
G |
T |
5: 22,147,739 (GRCm39) |
L2404I |
probably damaging |
Het |
| Rnasel |
A |
C |
1: 153,629,777 (GRCm39) |
I98L |
probably benign |
Het |
| Rnf216 |
T |
C |
5: 142,978,480 (GRCm39) |
D886G |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,266,015 (GRCm39) |
R534G |
probably benign |
Het |
| Selenon |
A |
C |
4: 134,267,061 (GRCm39) |
S514A |
probably benign |
Het |
| Sema3d |
T |
A |
5: 12,558,152 (GRCm39) |
I228N |
probably damaging |
Het |
| Serpinb9g |
T |
A |
13: 33,670,617 (GRCm39) |
I35N |
probably damaging |
Het |
| Siglec1 |
A |
C |
2: 130,917,744 (GRCm39) |
H1044Q |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,614,128 (GRCm39) |
I693F |
unknown |
Het |
| Skint5 |
G |
T |
4: 113,743,000 (GRCm39) |
L370M |
unknown |
Het |
| Slc12a1 |
G |
A |
2: 125,059,815 (GRCm39) |
W905* |
probably null |
Het |
| Slc26a9 |
G |
C |
1: 131,691,781 (GRCm39) |
V675L |
probably benign |
Het |
| Slc5a7 |
A |
T |
17: 54,583,990 (GRCm39) |
Y433* |
probably null |
Het |
| Slc7a4 |
A |
G |
16: 17,392,977 (GRCm39) |
I274T |
probably benign |
Het |
| Slmap |
A |
G |
14: 26,148,575 (GRCm39) |
V612A |
probably benign |
Het |
| Spen |
T |
C |
4: 141,206,605 (GRCm39) |
D674G |
unknown |
Het |
| Ssh1 |
T |
C |
5: 114,080,488 (GRCm39) |
T981A |
possibly damaging |
Het |
| Sycp2l |
T |
C |
13: 41,316,580 (GRCm39) |
S180P |
probably benign |
Het |
| Tdrd7 |
C |
A |
4: 45,990,144 (GRCm39) |
S181R |
probably benign |
Het |
| Thada |
T |
C |
17: 84,533,469 (GRCm39) |
N1661D |
probably benign |
Het |
| Tsga13 |
C |
A |
6: 30,876,981 (GRCm39) |
D179Y |
possibly damaging |
Het |
| Ttf2 |
T |
G |
3: 100,870,478 (GRCm39) |
Q198H |
possibly damaging |
Het |
| Ugt2b37 |
T |
G |
5: 87,401,971 (GRCm39) |
Y220S |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,061,235 (GRCm39) |
T1145I |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,661,621 (GRCm39) |
M1682K |
probably benign |
Het |
| Vcp |
A |
G |
4: 42,982,891 (GRCm39) |
S652P |
probably damaging |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,697,310 (GRCm39) |
M789K |
probably damaging |
Het |
| Wrnip1 |
T |
A |
13: 33,000,310 (GRCm39) |
L439* |
probably null |
Het |
| Zfhx2 |
A |
G |
14: 55,304,207 (GRCm39) |
I1259T |
possibly damaging |
Het |
| Zfp369 |
A |
T |
13: 65,439,960 (GRCm39) |
T215S |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,767,731 (GRCm39) |
V627E |
probably damaging |
Het |
| Zfp873 |
T |
C |
10: 81,895,773 (GRCm39) |
I168T |
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 |
|
R7346:Kcnt1
|
UTSW |
2 |
25,753,855 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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'- TCTTGGGCCTTGATACTACACC -3'
(R):5'- ACGCTTTAGCTGCTGAACC -3'
Sequencing Primer
(F):5'- TTGATACTACACCAGGCTCCGG -3'
(R):5'- TTAGCTGCTGAACCCACCTGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation