Incidental Mutation 'IGL02001:Kctd16'
ID |
183060 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kctd16
|
Ensembl Gene |
ENSMUSG00000051401 |
Gene Name |
potassium channel tetramerisation domain containing 16 |
Synonyms |
LOC383347, 2900055J20Rik, 4930434H12Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
IGL02001
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
40390015-40664683 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 40391733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Isoleucine
at position 107
(K107I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091927]
[ENSMUST00000096572]
|
AlphaFold |
Q5DTY9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091927
AA Change: K107I
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000089547 Gene: ENSMUSG00000051401 AA Change: K107I
Domain | Start | End | E-Value | Type |
BTB
|
25 |
130 |
8.7e-7 |
SMART |
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
low complexity region
|
374 |
396 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096572
|
SMART Domains |
Protein: ENSMUSP00000094323 Gene: ENSMUSG00000071860
Domain | Start | End | E-Value | Type |
transmembrane domain
|
99 |
121 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous knockout leads to reduced extinction or increase of fear memory in cued or contextual conditioning behavior tests, respectively. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
T |
C |
17: 48,473,842 (GRCm39) |
N25S |
possibly damaging |
Het |
Als2 |
A |
T |
1: 59,219,347 (GRCm39) |
|
probably benign |
Het |
Asah2 |
T |
A |
19: 32,020,939 (GRCm39) |
K255* |
probably null |
Het |
Bclaf1 |
A |
G |
10: 20,198,762 (GRCm39) |
|
probably benign |
Het |
Bpifb2 |
T |
C |
2: 153,733,195 (GRCm39) |
|
probably benign |
Het |
Cacna2d2 |
G |
A |
9: 107,399,315 (GRCm39) |
V669I |
probably benign |
Het |
Cep89 |
T |
A |
7: 35,102,432 (GRCm39) |
|
probably benign |
Het |
Chl1 |
T |
G |
6: 103,619,017 (GRCm39) |
L29R |
possibly damaging |
Het |
Defb2 |
T |
C |
8: 22,333,353 (GRCm39) |
Y43H |
probably damaging |
Het |
Disc1 |
A |
G |
8: 125,977,781 (GRCm39) |
Y799C |
probably damaging |
Het |
Egf |
G |
T |
3: 129,510,417 (GRCm39) |
A34E |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,203,071 (GRCm39) |
M1K |
probably null |
Het |
Gprin1 |
T |
C |
13: 54,887,005 (GRCm39) |
E423G |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,918,375 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,798,164 (GRCm39) |
E925G |
probably damaging |
Het |
Lrig1 |
T |
C |
6: 94,584,305 (GRCm39) |
K913R |
probably benign |
Het |
Marchf7 |
A |
G |
2: 60,065,235 (GRCm39) |
T504A |
possibly damaging |
Het |
Mrpl11 |
C |
T |
19: 5,013,680 (GRCm39) |
R154* |
probably null |
Het |
Nlrp4a |
T |
C |
7: 26,149,394 (GRCm39) |
F334L |
probably benign |
Het |
Or2z2 |
C |
T |
11: 58,346,335 (GRCm39) |
V147M |
probably benign |
Het |
Or55b10 |
T |
A |
7: 102,143,746 (GRCm39) |
T79S |
probably benign |
Het |
Parp6 |
A |
G |
9: 59,557,244 (GRCm39) |
T610A |
possibly damaging |
Het |
Pcdhb15 |
T |
G |
18: 37,607,091 (GRCm39) |
L108V |
probably benign |
Het |
Pomgnt1 |
G |
T |
4: 116,010,105 (GRCm39) |
E156* |
probably null |
Het |
Psma2 |
T |
G |
13: 14,798,192 (GRCm39) |
F105V |
possibly damaging |
Het |
Rapgef4 |
A |
G |
2: 72,055,396 (GRCm39) |
|
probably benign |
Het |
Sclt1 |
A |
T |
3: 41,636,156 (GRCm39) |
S282T |
possibly damaging |
Het |
Semp2l2b |
A |
T |
10: 21,943,176 (GRCm39) |
M268K |
probably benign |
Het |
Serpina3f |
A |
G |
12: 104,185,725 (GRCm39) |
Y310C |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,261,886 (GRCm39) |
K331R |
probably damaging |
Het |
Tectb |
T |
C |
19: 55,178,027 (GRCm39) |
F183L |
possibly damaging |
Het |
Tgfbr1 |
A |
G |
4: 47,403,388 (GRCm39) |
H327R |
probably damaging |
Het |
Try10 |
T |
A |
6: 41,333,523 (GRCm39) |
D89E |
probably benign |
Het |
Ttn |
G |
A |
2: 76,587,128 (GRCm39) |
S21623L |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,612,282 (GRCm39) |
L15489P |
probably damaging |
Het |
Vdac3-ps1 |
A |
G |
13: 18,205,973 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r69 |
T |
A |
7: 85,056,434 (GRCm39) |
Q568L |
probably benign |
Het |
Wdr36 |
T |
A |
18: 32,985,941 (GRCm39) |
D548E |
probably damaging |
Het |
Zfand4 |
T |
A |
6: 116,250,613 (GRCm39) |
H14Q |
probably benign |
Het |
|
Other mutations in Kctd16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00501:Kctd16
|
APN |
18 |
40,390,440 (GRCm39) |
unclassified |
probably benign |
|
IGL00954:Kctd16
|
APN |
18 |
40,391,853 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01844:Kctd16
|
APN |
18 |
40,390,373 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02173:Kctd16
|
APN |
18 |
40,663,906 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02890:Kctd16
|
APN |
18 |
40,390,080 (GRCm39) |
unclassified |
probably benign |
|
IGL03112:Kctd16
|
APN |
18 |
40,391,853 (GRCm39) |
missense |
probably benign |
0.08 |
R0109:Kctd16
|
UTSW |
18 |
40,392,204 (GRCm39) |
missense |
probably benign |
0.06 |
R0109:Kctd16
|
UTSW |
18 |
40,392,204 (GRCm39) |
missense |
probably benign |
0.06 |
R0267:Kctd16
|
UTSW |
18 |
40,663,930 (GRCm39) |
missense |
probably benign |
0.02 |
R0554:Kctd16
|
UTSW |
18 |
40,391,492 (GRCm39) |
missense |
probably benign |
|
R0732:Kctd16
|
UTSW |
18 |
40,391,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Kctd16
|
UTSW |
18 |
40,663,828 (GRCm39) |
missense |
probably damaging |
0.98 |
R2140:Kctd16
|
UTSW |
18 |
40,392,231 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2141:Kctd16
|
UTSW |
18 |
40,392,231 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2142:Kctd16
|
UTSW |
18 |
40,392,231 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2160:Kctd16
|
UTSW |
18 |
40,392,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R3723:Kctd16
|
UTSW |
18 |
40,391,912 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3724:Kctd16
|
UTSW |
18 |
40,391,912 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4712:Kctd16
|
UTSW |
18 |
40,390,233 (GRCm39) |
unclassified |
probably benign |
|
R5483:Kctd16
|
UTSW |
18 |
40,663,929 (GRCm39) |
missense |
probably benign |
|
R5538:Kctd16
|
UTSW |
18 |
40,390,319 (GRCm39) |
nonsense |
probably null |
|
R5589:Kctd16
|
UTSW |
18 |
40,392,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R5767:Kctd16
|
UTSW |
18 |
40,391,922 (GRCm39) |
missense |
probably benign |
0.13 |
R5811:Kctd16
|
UTSW |
18 |
40,391,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R5875:Kctd16
|
UTSW |
18 |
40,390,447 (GRCm39) |
unclassified |
probably benign |
|
R5911:Kctd16
|
UTSW |
18 |
40,663,905 (GRCm39) |
missense |
probably benign |
0.11 |
R5930:Kctd16
|
UTSW |
18 |
40,663,882 (GRCm39) |
missense |
probably benign |
0.10 |
R6017:Kctd16
|
UTSW |
18 |
40,391,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R6603:Kctd16
|
UTSW |
18 |
40,391,544 (GRCm39) |
missense |
probably benign |
|
R6984:Kctd16
|
UTSW |
18 |
40,390,101 (GRCm39) |
unclassified |
probably benign |
|
R7404:Kctd16
|
UTSW |
18 |
40,391,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R7597:Kctd16
|
UTSW |
18 |
40,663,848 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9079:Kctd16
|
UTSW |
18 |
40,390,080 (GRCm39) |
unclassified |
probably benign |
|
R9133:Kctd16
|
UTSW |
18 |
40,392,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R9283:Kctd16
|
UTSW |
18 |
40,392,233 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Posted On |
2014-05-07 |