Incidental Mutation 'R8365:Kctd18'
ID |
646121 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kctd18
|
Ensembl Gene |
ENSMUSG00000054770 |
Gene Name |
potassium channel tetramerisation domain containing 18 |
Synonyms |
4932411A20Rik |
MMRRC Submission |
067736-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R8365 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
57994260-58009298 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57998311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 263
(I263N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110052
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114410]
[ENSMUST00000159826]
[ENSMUST00000161608]
[ENSMUST00000163061]
[ENSMUST00000164963]
|
AlphaFold |
E0CZ26 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114410
AA Change: I263N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110052 Gene: ENSMUSG00000054770 AA Change: I263N
Domain | Start | End | E-Value | Type |
BTB
|
23 |
123 |
1.01e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159826
AA Change: I96N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125245 Gene: ENSMUSG00000054770 AA Change: I96N
Domain | Start | End | E-Value | Type |
SCOP:d1t1da_
|
23 |
65 |
2e-11 |
SMART |
Blast:BTB
|
23 |
107 |
2e-24 |
BLAST |
|
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 |
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: I96N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130952 Gene: ENSMUSG00000054770 AA Change: I96N
Domain | Start | End | E-Value | Type |
SCOP:d1t1da_
|
23 |
65 |
2e-11 |
SMART |
Blast:BTB
|
23 |
107 |
7e-24 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
T |
6: 128,557,918 (GRCm39) |
C79* |
probably null |
Het |
Abcc9 |
A |
T |
6: 142,544,798 (GRCm39) |
S1430T |
probably benign |
Het |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Ankrd17 |
T |
C |
5: 90,398,378 (GRCm39) |
K1724R |
possibly damaging |
Het |
Brf2 |
A |
G |
8: 27,618,566 (GRCm39) |
S13P |
possibly damaging |
Het |
Cfap46 |
T |
A |
7: 139,263,000 (GRCm39) |
K18* |
probably null |
Het |
Cym |
T |
G |
3: 107,120,182 (GRCm39) |
I306L |
probably benign |
Het |
Cyp2c66 |
A |
T |
19: 39,165,048 (GRCm39) |
H343L |
probably benign |
Het |
Cyp2d34 |
T |
C |
15: 82,504,874 (GRCm39) |
Y62C |
probably damaging |
Het |
D630045J12Rik |
A |
G |
6: 38,172,570 (GRCm39) |
S533P |
probably benign |
Het |
Dnajc10 |
A |
G |
2: 80,176,902 (GRCm39) |
Y619C |
probably damaging |
Het |
Dnal1 |
T |
A |
12: 84,178,163 (GRCm39) |
|
probably null |
Het |
Eif4g1 |
T |
A |
16: 20,502,277 (GRCm39) |
M914K |
probably damaging |
Het |
Epb41l2 |
C |
A |
10: 25,317,584 (GRCm39) |
Q34K |
probably benign |
Het |
Esyt1 |
T |
G |
10: 128,352,422 (GRCm39) |
N730H |
possibly damaging |
Het |
Fbxo15 |
T |
G |
18: 84,980,739 (GRCm39) |
I238S |
probably damaging |
Het |
Foxn3 |
T |
C |
12: 99,307,727 (GRCm39) |
K204E |
probably damaging |
Het |
Gtf2i |
G |
A |
5: 134,303,434 (GRCm39) |
S279L |
probably benign |
Het |
Hhatl |
A |
G |
9: 121,618,931 (GRCm39) |
M67T |
probably damaging |
Het |
Itpkc |
C |
A |
7: 26,911,777 (GRCm39) |
R598L |
probably damaging |
Het |
Itprid2 |
T |
C |
2: 79,492,689 (GRCm39) |
S1079P |
probably damaging |
Het |
Jkampl |
A |
T |
6: 73,446,329 (GRCm39) |
N73K |
probably benign |
Het |
Map1a |
T |
A |
2: 121,138,528 (GRCm39) |
M3002K |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,866,709 (GRCm39) |
S588T |
possibly damaging |
Het |
Pcdh8 |
T |
A |
14: 80,008,426 (GRCm39) |
I46F |
probably damaging |
Het |
Prdm6 |
T |
C |
18: 53,685,137 (GRCm39) |
V392A |
probably benign |
Het |
Ptprt |
T |
A |
2: 161,743,451 (GRCm39) |
I497F |
probably benign |
Het |
Rorc |
A |
G |
3: 94,282,366 (GRCm39) |
H22R |
probably benign |
Het |
Scaf8 |
A |
G |
17: 3,246,241 (GRCm39) |
I777V |
possibly damaging |
Het |
Shroom1 |
A |
T |
11: 53,356,468 (GRCm39) |
R444* |
probably null |
Het |
Srcap |
C |
T |
7: 127,148,869 (GRCm39) |
T2030I |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,793,695 (GRCm39) |
S94P |
probably damaging |
Het |
Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
Ttc27 |
C |
T |
17: 75,054,669 (GRCm39) |
T325I |
probably damaging |
Het |
Ucp1 |
A |
C |
8: 84,020,628 (GRCm39) |
H146P |
probably damaging |
Het |
Vmn1r167 |
A |
T |
7: 23,204,200 (GRCm39) |
I272N |
probably benign |
Het |
Vmn2r1 |
T |
C |
3: 63,994,034 (GRCm39) |
S127P |
possibly damaging |
Het |
Vtcn1 |
A |
G |
3: 100,791,145 (GRCm39) |
D61G |
probably benign |
Het |
Zfp994 |
A |
T |
17: 22,420,227 (GRCm39) |
C241S |
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 |
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 |
R8728:Kctd18
|
UTSW |
1 |
58,002,289 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCACATCCCGGAAGATCACAG -3'
(R):5'- CTGGTTCTGTTGTGCACACC -3'
Sequencing Primer
(F):5'- CGGAAGATCACAGCACCC -3'
(R):5'- TCACCTGAGAGGAGCAAGCTAC -3'
|
Posted On |
2020-09-02 |