Incidental Mutation 'IGL01153:Kctd18'
| ID |
50365 |
| 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 # |
IGL01153
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
57994260-58009298 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58004550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 115
(S115P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110052
(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: S115P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110052
Gene: ENSMUSG00000054770
AA Change: S115P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
23 |
123 |
1.01e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159826
|
| SMART Domains |
Protein: ENSMUSP00000125245
Gene: ENSMUSG00000054770
| 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: ENSMUST00000160130
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160614
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161608
AA Change: S115P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125153
Gene: ENSMUSG00000054770
AA Change: S115P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
23 |
123 |
1.01e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162410
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163061
AA Change: S115P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124053
Gene: ENSMUSG00000054770
AA Change: S115P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
23 |
123 |
1.01e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189298
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164963
|
| SMART Domains |
Protein: ENSMUSP00000130952
Gene: ENSMUSG00000054770
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1t1da_
|
23 |
65 |
2e-11 |
SMART |
|
Blast:BTB
|
23 |
107 |
7e-24 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,567,247 (GRCm39) |
I5309V |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,349,724 (GRCm39) |
V482A |
possibly damaging |
Het |
| Ankrd22 |
A |
T |
19: 34,106,229 (GRCm39) |
V81E |
probably damaging |
Het |
| Ccr5 |
C |
A |
9: 123,924,649 (GRCm39) |
T84K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Chchd3 |
A |
T |
6: 32,985,502 (GRCm39) |
|
probably benign |
Het |
| Cpt1c |
C |
T |
7: 44,616,092 (GRCm39) |
E307K |
probably damaging |
Het |
| Cyth2 |
T |
C |
7: 45,457,813 (GRCm39) |
Y120C |
probably damaging |
Het |
| Dnajb11 |
T |
A |
16: 22,681,430 (GRCm39) |
D69E |
probably benign |
Het |
| Ece2 |
T |
A |
16: 20,451,544 (GRCm39) |
M215K |
possibly damaging |
Het |
| Enox2 |
C |
A |
X: 48,151,015 (GRCm39) |
|
probably null |
Het |
| Fam120c |
T |
C |
X: 150,182,801 (GRCm39) |
|
probably null |
Het |
| Fam149b |
A |
G |
14: 20,427,949 (GRCm39) |
T319A |
possibly damaging |
Het |
| Fndc1 |
A |
T |
17: 7,998,874 (GRCm39) |
|
probably null |
Het |
| Gcsh |
T |
A |
8: 117,710,549 (GRCm39) |
D138V |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,837,321 (GRCm39) |
H331Q |
probably benign |
Het |
| Iars1 |
A |
G |
13: 49,865,281 (GRCm39) |
N586D |
probably damaging |
Het |
| Idh3g |
A |
G |
X: 72,823,668 (GRCm39) |
V280A |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,090,370 (GRCm39) |
|
probably null |
Het |
| Lyset |
T |
A |
12: 102,711,135 (GRCm39) |
Y119* |
probably null |
Het |
| Mael |
T |
C |
1: 166,029,919 (GRCm39) |
K334E |
possibly damaging |
Het |
| Me3 |
A |
C |
7: 89,498,844 (GRCm39) |
T475P |
probably damaging |
Het |
| Mrpl18 |
A |
G |
17: 13,134,693 (GRCm39) |
L24P |
possibly damaging |
Het |
| Nol4 |
C |
A |
18: 22,902,850 (GRCm39) |
R460L |
probably damaging |
Het |
| Numa1 |
A |
T |
7: 101,643,951 (GRCm39) |
E181V |
probably damaging |
Het |
| Or6c2 |
T |
A |
10: 129,362,864 (GRCm39) |
I256N |
probably damaging |
Het |
| Pex2 |
A |
T |
3: 5,626,424 (GRCm39) |
H128Q |
probably benign |
Het |
| Pex3 |
A |
T |
10: 13,428,597 (GRCm39) |
|
probably null |
Het |
| Psmb8 |
A |
G |
17: 34,420,215 (GRCm39) |
Y269C |
possibly damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,615,096 (GRCm39) |
K62R |
probably benign |
Het |
| Strn4 |
G |
A |
7: 16,571,846 (GRCm39) |
G613D |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,470,204 (GRCm39) |
W875R |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,845,451 (GRCm39) |
D149G |
possibly damaging |
Het |
| Zfp473 |
A |
G |
7: 44,383,992 (GRCm39) |
S113P |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,703 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Zgrf1 |
G |
A |
3: 127,396,055 (GRCm39) |
G534R |
probably damaging |
Het |
|
| Other mutations in Kctd18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Kctd18
|
APN |
1 |
57,995,897 (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 |
2013-06-21 |
Incidental Mutation