Incidental Mutation 'R2247:Kctd18'
| ID |
240883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kctd18
|
| Ensembl Gene |
ENSMUSG00000054770 |
| Gene Name |
potassium channel tetramerisation domain containing 18 |
| Synonyms |
4932411A20Rik |
| MMRRC Submission |
040247-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R2247 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
57994260-58009298 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58006801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 16
(H16Q)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000114410
AA Change: H16Q
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110052
Gene: ENSMUSG00000054770
AA Change: H16Q
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
23 |
123 |
1.01e-2 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000159826
AA Change: H16Q
|
| SMART Domains |
Protein: ENSMUSP00000125245
Gene: ENSMUSG00000054770
AA Change: H16Q
| 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 benign
Transcript: ENSMUST00000161608
AA Change: H16Q
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125153
Gene: ENSMUSG00000054770
AA Change: H16Q
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
23 |
123 |
1.01e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162410
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163061
AA Change: H16Q
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124053
Gene: ENSMUSG00000054770
AA Change: H16Q
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
23 |
123 |
1.01e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164963
AA Change: H16Q
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000130952
Gene: ENSMUSG00000054770
AA Change: H16Q
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,435 (GRCm39) |
E70G |
possibly damaging |
Het |
| Ash1l |
C |
A |
3: 88,914,674 (GRCm39) |
P1768Q |
possibly damaging |
Het |
| Bicra |
C |
A |
7: 15,723,159 (GRCm39) |
E119D |
probably benign |
Het |
| Brd2 |
A |
G |
17: 34,333,389 (GRCm39) |
F421L |
probably damaging |
Het |
| Cspp1 |
A |
T |
1: 10,136,685 (GRCm39) |
Q182L |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,316,223 (GRCm39) |
D3112G |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,168,369 (GRCm39) |
I697F |
probably damaging |
Het |
| Ephb1 |
A |
T |
9: 101,874,010 (GRCm39) |
S555T |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,946,198 (GRCm39) |
D1697V |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,088,627 (GRCm39) |
K1160R |
probably damaging |
Het |
| Jak2 |
T |
C |
19: 29,261,036 (GRCm39) |
V344A |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,221,016 (GRCm39) |
T168A |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh11 |
A |
G |
16: 14,095,423 (GRCm39) |
L113P |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,225,384 (GRCm39) |
I250F |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,101,319 (GRCm39) |
Y426C |
probably damaging |
Het |
| Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
| Or51ab3 |
T |
A |
7: 103,201,097 (GRCm39) |
|
probably null |
Het |
| Pbrm1 |
A |
G |
14: 30,796,850 (GRCm39) |
H897R |
probably damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,209 (GRCm39) |
S320G |
probably benign |
Het |
| Plcl2 |
T |
C |
17: 50,913,873 (GRCm39) |
V294A |
probably damaging |
Het |
| Psapl1 |
A |
G |
5: 36,362,410 (GRCm39) |
E334G |
probably benign |
Het |
| Pwwp3a |
A |
G |
10: 80,076,259 (GRCm39) |
Y483C |
probably damaging |
Het |
| Raly |
A |
G |
2: 154,705,953 (GRCm39) |
H277R |
possibly damaging |
Het |
| Ranbp9 |
T |
C |
13: 43,565,901 (GRCm39) |
K462E |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,304,136 (GRCm39) |
T490A |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,561,413 (GRCm39) |
H142R |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,829,042 (GRCm39) |
G234S |
probably null |
Het |
| Shisa3 |
G |
A |
5: 67,768,666 (GRCm39) |
V189M |
probably benign |
Het |
| Slc25a36 |
A |
T |
9: 96,982,191 (GRCm39) |
L28Q |
probably damaging |
Het |
| Slc38a8 |
A |
G |
8: 120,212,389 (GRCm39) |
M318T |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,529,721 (GRCm39) |
M328K |
probably benign |
Het |
| Sp2 |
A |
C |
11: 96,852,844 (GRCm39) |
|
probably null |
Het |
| Sult2b1 |
A |
T |
7: 45,384,734 (GRCm39) |
I114N |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,900,202 (GRCm39) |
S803P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,555,216 (GRCm39) |
D2603E |
probably benign |
Het |
| Tnfaip8 |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
18: 50,179,912 (GRCm39) |
|
probably null |
Het |
| Zfp189 |
T |
A |
4: 49,530,393 (GRCm39) |
C499S |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,622,423 (GRCm39) |
F1621S |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCCCACTTTAATGAGCATTCG -3'
(R):5'- TTCCCAACTCAGCATATCTCAG -3'
Sequencing Primer
(F):5'- GCTCAGGCTCAGACTTTAGAC -3'
(R):5'- AGACGCCTTTCATACCACGTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation