Incidental Mutation 'IGL00662:Kctd18'
| ID |
11586 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kctd18
|
| Ensembl Gene |
ENSMUSG00000054770 |
| Gene Name |
potassium channel tetramerisation domain containing 18 |
| Synonyms |
4932411A20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL00662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
57994260-58009298 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57995897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 127
(T127A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114410]
[ENSMUST00000159826]
[ENSMUST00000161608]
[ENSMUST00000163061]
[ENSMUST00000164963]
|
| AlphaFold |
E0CZ26 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000068000
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114410
AA Change: T294A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110052
Gene: ENSMUSG00000054770
AA Change: T294A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
23 |
123 |
1.01e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159826
AA Change: T127A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125245
Gene: ENSMUSG00000054770
AA Change: T127A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1t1da_
|
23 |
65 |
2e-11 |
SMART |
|
Blast:BTB
|
23 |
107 |
2e-24 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160614
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161608
|
| SMART Domains |
Protein: ENSMUSP00000125153
Gene: ENSMUSG00000054770
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
23 |
123 |
1.01e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163006
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163061
|
| SMART Domains |
Protein: ENSMUSP00000124053
Gene: ENSMUSG00000054770
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
23 |
123 |
1.01e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164963
AA Change: T127A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130952
Gene: ENSMUSG00000054770
AA Change: T127A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1t1da_
|
23 |
65 |
2e-11 |
SMART |
|
Blast:BTB
|
23 |
107 |
7e-24 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189298
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg16l2 |
T |
C |
7: 100,939,103 (GRCm39) |
N587S |
probably benign |
Het |
| Bcar3 |
C |
T |
3: 122,306,585 (GRCm39) |
A186V |
probably benign |
Het |
| Bcr |
A |
T |
10: 75,003,932 (GRCm39) |
|
probably benign |
Het |
| Cd207 |
A |
G |
6: 83,652,908 (GRCm39) |
I74T |
possibly damaging |
Het |
| Cenpn |
T |
C |
8: 117,655,326 (GRCm39) |
|
probably null |
Het |
| Chuk |
A |
T |
19: 44,085,649 (GRCm39) |
F228I |
possibly damaging |
Het |
| Cmss1 |
T |
C |
16: 57,124,092 (GRCm39) |
D233G |
probably damaging |
Het |
| Copg1 |
C |
T |
6: 87,879,352 (GRCm39) |
T466I |
possibly damaging |
Het |
| Ctsll3 |
A |
G |
13: 60,946,756 (GRCm39) |
S288P |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,907,723 (GRCm39) |
I2760F |
possibly damaging |
Het |
| Gpi1 |
A |
G |
7: 33,915,375 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,581,081 (GRCm39) |
R318C |
probably benign |
Het |
| Kcnk9 |
A |
G |
15: 72,417,924 (GRCm39) |
S69P |
probably benign |
Het |
| Khk |
T |
C |
5: 31,087,019 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,850,502 (GRCm39) |
S703T |
possibly damaging |
Het |
| Nup98 |
T |
A |
7: 101,844,194 (GRCm39) |
N47I |
probably damaging |
Het |
| Rad1 |
A |
G |
15: 10,490,495 (GRCm39) |
N154S |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,220,389 (GRCm39) |
|
probably benign |
Het |
| Slc35f5 |
T |
A |
1: 125,515,161 (GRCm39) |
L438H |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,358,659 (GRCm39) |
Y334C |
possibly damaging |
Het |
| Spata17 |
T |
C |
1: 186,849,536 (GRCm39) |
N124S |
probably benign |
Het |
| Tfap2c |
T |
C |
2: 172,393,438 (GRCm39) |
Y118H |
probably damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,565,845 (GRCm39) |
L503* |
probably null |
Het |
| Utrn |
C |
T |
10: 12,540,705 (GRCm39) |
E1907K |
probably damaging |
Het |
| Vav3 |
T |
A |
3: 109,435,708 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,681,904 (GRCm39) |
K1033I |
probably damaging |
Het |
| Zfp202 |
A |
G |
9: 40,122,339 (GRCm39) |
N367S |
probably benign |
Het |
|
| Other mutations in Kctd18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01153:Kctd18
|
APN |
1 |
58,004,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02513:Kctd18
|
APN |
1 |
58,004,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0043:Kctd18
|
UTSW |
1 |
58,006,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1823:Kctd18
|
UTSW |
1 |
57,995,524 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1918:Kctd18
|
UTSW |
1 |
57,998,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Kctd18
|
UTSW |
1 |
58,006,779 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1971:Kctd18
|
UTSW |
1 |
58,006,779 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2247:Kctd18
|
UTSW |
1 |
58,006,801 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4849:Kctd18
|
UTSW |
1 |
58,001,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4922:Kctd18
|
UTSW |
1 |
58,004,707 (GRCm39) |
intron |
probably benign |
|
|
R5165:Kctd18
|
UTSW |
1 |
57,998,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5377:Kctd18
|
UTSW |
1 |
58,002,252 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5747:Kctd18
|
UTSW |
1 |
58,001,183 (GRCm39) |
intron |
probably benign |
|
|
R5782:Kctd18
|
UTSW |
1 |
57,998,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7132:Kctd18
|
UTSW |
1 |
58,006,737 (GRCm39) |
nonsense |
probably null |
|
|
R7253:Kctd18
|
UTSW |
1 |
58,001,115 (GRCm39) |
nonsense |
probably null |
|
|
R7272:Kctd18
|
UTSW |
1 |
57,995,710 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7880:Kctd18
|
UTSW |
1 |
58,006,778 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8365:Kctd18
|
UTSW |
1 |
57,998,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8728:Kctd18
|
UTSW |
1 |
58,002,289 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-06 |
Incidental Mutation