Incidental Mutation 'IGL01844:Kctd16'
ID |
178125 |
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 # |
IGL01844
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
40390015-40664683 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40390373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 115
(I115M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091927]
[ENSMUST00000096572]
|
AlphaFold |
Q5DTY9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091927
|
SMART Domains |
Protein: ENSMUSP00000089547 Gene: ENSMUSG00000051401
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 damaging
Transcript: ENSMUST00000096572
AA Change: I115M
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000094323 Gene: ENSMUSG00000071860 AA Change: I115M
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 |
Abcg5 |
A |
G |
17: 84,989,453 (GRCm39) |
I85T |
probably damaging |
Het |
Amer2 |
A |
G |
14: 60,617,356 (GRCm39) |
D391G |
possibly damaging |
Het |
Atp13a3 |
A |
T |
16: 30,180,781 (GRCm39) |
C83S |
probably benign |
Het |
Bdh2 |
A |
T |
3: 134,994,080 (GRCm39) |
Q54L |
probably benign |
Het |
Cep128 |
A |
G |
12: 90,975,628 (GRCm39) |
S1051P |
probably benign |
Het |
Dop1a |
A |
G |
9: 86,396,138 (GRCm39) |
T865A |
probably damaging |
Het |
Epha8 |
C |
A |
4: 136,658,360 (GRCm39) |
*1005L |
probably null |
Het |
Etl4 |
T |
C |
2: 20,811,493 (GRCm39) |
V1509A |
probably benign |
Het |
Gucy1b1 |
T |
C |
3: 81,953,833 (GRCm39) |
E161G |
possibly damaging |
Het |
Hepacam |
T |
A |
9: 37,291,912 (GRCm39) |
V80E |
probably damaging |
Het |
Ireb2 |
A |
G |
9: 54,772,641 (GRCm39) |
K24E |
probably benign |
Het |
Itch |
T |
A |
2: 155,014,467 (GRCm39) |
D101E |
possibly damaging |
Het |
Itch |
T |
A |
2: 155,014,406 (GRCm39) |
F81Y |
possibly damaging |
Het |
Klf7 |
C |
A |
1: 64,117,933 (GRCm39) |
Q221H |
probably benign |
Het |
Kptn |
A |
G |
7: 15,857,897 (GRCm39) |
T242A |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,334,485 (GRCm39) |
F4420S |
probably benign |
Het |
Mthfd2 |
A |
G |
6: 83,288,792 (GRCm39) |
|
probably null |
Het |
Mtrf1l |
A |
C |
10: 5,764,112 (GRCm39) |
L284V |
probably null |
Het |
Neb |
C |
T |
2: 52,060,561 (GRCm39) |
V2259I |
probably benign |
Het |
Or4c111 |
A |
T |
2: 88,843,814 (GRCm39) |
V198E |
possibly damaging |
Het |
Or9i14 |
A |
T |
19: 13,792,180 (GRCm39) |
M258K |
possibly damaging |
Het |
Padi1 |
A |
T |
4: 140,556,746 (GRCm39) |
C154S |
probably damaging |
Het |
Paxip1 |
T |
C |
5: 27,956,036 (GRCm39) |
T903A |
probably benign |
Het |
Phactr2 |
T |
A |
10: 13,129,181 (GRCm39) |
L292F |
probably benign |
Het |
Pkhd1l1 |
G |
A |
15: 44,362,796 (GRCm39) |
|
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,940,985 (GRCm39) |
|
probably null |
Het |
Rif1 |
T |
A |
2: 52,002,555 (GRCm39) |
I2003K |
probably benign |
Het |
Rxfp3 |
A |
T |
15: 11,037,132 (GRCm39) |
V80E |
probably damaging |
Het |
Sart3 |
T |
A |
5: 113,883,709 (GRCm39) |
K768* |
probably null |
Het |
Slc35f5 |
C |
T |
1: 125,517,612 (GRCm39) |
T470I |
probably damaging |
Het |
Smg8 |
A |
T |
11: 86,971,102 (GRCm39) |
Y890N |
probably damaging |
Het |
Spata31 |
T |
C |
13: 65,068,968 (GRCm39) |
V372A |
possibly damaging |
Het |
Tbc1d30 |
A |
T |
10: 121,103,084 (GRCm39) |
D649E |
probably benign |
Het |
Tctn3 |
G |
A |
19: 40,600,581 (GRCm39) |
T3I |
probably damaging |
Het |
Tns3 |
G |
A |
11: 8,387,177 (GRCm39) |
P1337S |
possibly damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,434,135 (GRCm39) |
*856C |
probably null |
Het |
Vmn2r61 |
A |
T |
7: 41,909,639 (GRCm39) |
I55F |
probably benign |
Het |
Zbtb41 |
C |
T |
1: 139,375,065 (GRCm39) |
P842S |
probably benign |
Het |
Zc3h13 |
A |
G |
14: 75,581,209 (GRCm39) |
|
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 |
IGL02001:Kctd16
|
APN |
18 |
40,391,733 (GRCm39) |
missense |
possibly damaging |
0.48 |
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 |