Incidental Mutation 'R5811:Kctd16'
ID |
447538 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kctd16
|
Ensembl Gene |
ENSMUSG00000051401 |
Gene Name |
potassium channel tetramerisation domain containing 16 |
Synonyms |
LOC383347, 2900055J20Rik, 4930434H12Rik |
MMRRC Submission |
043213-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R5811 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
40390015-40664683 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40391505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 31
(V31A)
|
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: V31A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089547 Gene: ENSMUSG00000051401 AA Change: V31A
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: 97.5%
- 20x: 95.9%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Btnl1 |
A |
T |
17: 34,604,503 (GRCm39) |
K428M |
probably damaging |
Het |
Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
Clnk |
A |
G |
5: 38,870,490 (GRCm39) |
V356A |
probably damaging |
Het |
Cryba4 |
C |
T |
5: 112,398,937 (GRCm39) |
V36I |
probably benign |
Het |
Dct |
A |
G |
14: 118,250,600 (GRCm39) |
V466A |
probably benign |
Het |
Dnmt3l |
A |
G |
10: 77,887,929 (GRCm39) |
D146G |
possibly damaging |
Het |
Epas1 |
A |
G |
17: 87,131,203 (GRCm39) |
N328D |
probably damaging |
Het |
Fat4 |
C |
T |
3: 38,945,936 (GRCm39) |
R1610W |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,390,657 (GRCm39) |
V415A |
probably damaging |
Het |
Garnl3 |
A |
G |
2: 32,896,911 (GRCm39) |
L576P |
probably damaging |
Het |
Gjd3 |
A |
T |
11: 98,873,226 (GRCm39) |
V206E |
possibly damaging |
Het |
Gpr135 |
A |
T |
12: 72,116,641 (GRCm39) |
D375E |
possibly damaging |
Het |
Gsdme |
T |
A |
6: 50,222,925 (GRCm39) |
Q130L |
probably benign |
Het |
Hcls1 |
A |
G |
16: 36,777,702 (GRCm39) |
M274V |
probably null |
Het |
Kcnn4 |
T |
C |
7: 24,077,030 (GRCm39) |
V193A |
probably damaging |
Het |
Lamc2 |
C |
T |
1: 153,041,999 (GRCm39) |
R45Q |
possibly damaging |
Het |
Lrrc66 |
T |
A |
5: 73,772,860 (GRCm39) |
I203F |
possibly damaging |
Het |
Mark4 |
T |
C |
7: 19,182,564 (GRCm39) |
D91G |
probably damaging |
Het |
Mcm6 |
A |
T |
1: 128,263,465 (GRCm39) |
|
probably benign |
Het |
Mecom |
C |
T |
3: 30,015,149 (GRCm39) |
S602N |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,352,721 (GRCm39) |
V736A |
possibly damaging |
Het |
Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
Or2h2c |
C |
A |
17: 37,422,649 (GRCm39) |
C75F |
probably benign |
Het |
Pdia5 |
A |
T |
16: 35,269,790 (GRCm39) |
M173K |
possibly damaging |
Het |
Pih1d2 |
T |
C |
9: 50,532,374 (GRCm39) |
L144P |
probably damaging |
Het |
Plch2 |
C |
T |
4: 155,077,024 (GRCm39) |
E577K |
possibly damaging |
Het |
Samd4b |
T |
C |
7: 28,107,445 (GRCm39) |
S275G |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,822,495 (GRCm39) |
V668A |
probably benign |
Het |
Sema3c |
T |
A |
5: 17,880,188 (GRCm39) |
|
probably null |
Het |
Slc9a8 |
C |
T |
2: 167,313,307 (GRCm39) |
R390* |
probably null |
Het |
Vmn2r89 |
A |
T |
14: 51,693,565 (GRCm39) |
N305I |
probably benign |
Het |
Wdr33 |
T |
C |
18: 32,035,673 (GRCm39) |
F1164L |
unknown |
Het |
Zfp873 |
T |
A |
10: 81,896,567 (GRCm39) |
C470S |
probably damaging |
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 |
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 |
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'- CCTCACTCGTGGATGCAAAG -3'
(R):5'- CAGCCTTCCTCTTTCTGGAAAG -3'
Sequencing Primer
(F):5'- CTCACTCGTGGATGCAAAGTCTAG -3'
(R):5'- CCTCTTTCTGGAAAGTGATCAGGC -3'
|
Posted On |
2016-12-15 |