Incidental Mutation 'R2160:Kctd16'
| ID |
235134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kctd16
|
| Ensembl Gene |
ENSMUSG00000051401 |
| Gene Name |
potassium channel tetramerisation domain containing 16 |
| Synonyms |
LOC383347, 2900055J20Rik, 4930434H12Rik |
| MMRRC Submission |
040163-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R2160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
40390015-40664683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40392138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 242
(E242G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091927]
[ENSMUST00000096572]
|
| AlphaFold |
Q5DTY9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091927
AA Change: E242G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089547
Gene: ENSMUSG00000051401
AA Change: E242G
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifb9b |
A |
G |
2: 154,161,595 (GRCm39) |
N576D |
possibly damaging |
Het |
| Braf |
C |
T |
6: 39,639,007 (GRCm39) |
C248Y |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,680 (GRCm39) |
E1218G |
possibly damaging |
Het |
| Cntnap4 |
G |
T |
8: 113,484,203 (GRCm39) |
G419C |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
T |
11: 66,008,309 (GRCm39) |
D839N |
probably damaging |
Het |
| Evc2 |
A |
G |
5: 37,537,862 (GRCm39) |
T517A |
possibly damaging |
Het |
| Fbxw8 |
G |
A |
5: 118,263,053 (GRCm39) |
P209S |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,968,662 (GRCm39) |
K121E |
probably benign |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Herc2 |
A |
G |
7: 55,862,670 (GRCm39) |
D4077G |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,848,004 (GRCm39) |
L937* |
probably null |
Het |
| Ipcef1 |
A |
T |
10: 6,840,650 (GRCm39) |
I349N |
probably damaging |
Het |
| Ipmk |
A |
G |
10: 71,217,256 (GRCm39) |
T267A |
probably benign |
Het |
| Jph3 |
G |
T |
8: 122,479,970 (GRCm39) |
R216L |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Krt76 |
A |
G |
15: 101,796,820 (GRCm39) |
Y360H |
probably damaging |
Het |
| Lctl |
A |
G |
9: 64,025,049 (GRCm39) |
I12V |
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,833,565 (GRCm39) |
V347A |
possibly damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,680,263 (GRCm39) |
S2058F |
probably damaging |
Het |
| Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
| Mon2 |
T |
A |
10: 122,911,834 (GRCm39) |
K12* |
probably null |
Het |
| Nup58 |
A |
G |
14: 60,476,957 (GRCm39) |
V238A |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,940,302 (GRCm39) |
D504G |
probably benign |
Het |
| Pla2g4e |
T |
C |
2: 120,015,687 (GRCm39) |
S286G |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,241,461 (GRCm39) |
V498D |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,928,951 (GRCm39) |
E846G |
probably damaging |
Het |
| Ppp3ca |
G |
A |
3: 136,583,391 (GRCm39) |
C166Y |
probably damaging |
Het |
| Prpf3 |
T |
C |
3: 95,752,542 (GRCm39) |
K244E |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,502,239 (GRCm39) |
S37P |
probably damaging |
Het |
| Rab11fip3 |
G |
A |
17: 26,288,028 (GRCm39) |
H42Y |
probably benign |
Het |
| Sprn |
C |
A |
7: 139,733,419 (GRCm39) |
|
probably benign |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,359,333 (GRCm39) |
S71G |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,879 (GRCm39) |
F127S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,349,420 (GRCm39) |
V721I |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,428,146 (GRCm39) |
F707L |
probably benign |
Het |
| Zfp976 |
C |
T |
7: 42,263,354 (GRCm39) |
S161N |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGCAGATGCCAAGTTCC -3'
(R):5'- CTGTATGTAGCATCTAGGACTCTACC -3'
Sequencing Primer
(F):5'- ATGCCAAGTTCCGGAGAGTC -3'
(R):5'- TGTAGCATCTAGGACTCTACCTATAG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation