Incidental Mutation 'R3723:Kctd16'
| ID |
270649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kctd16
|
| Ensembl Gene |
ENSMUSG00000051401 |
| Gene Name |
potassium channel tetramerisation domain containing 16 |
| Synonyms |
LOC383347, 2900055J20Rik, 4930434H12Rik |
| MMRRC Submission |
040714-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R3723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
40390015-40664683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40391912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 167
(T167A)
|
| 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: T167A
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000089547
Gene: ENSMUSG00000051401
AA Change: T167A
| 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 |
|
| Meta Mutation Damage Score |
0.2196 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
95% (38/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,994,217 (GRCm39) |
V5167A |
possibly damaging |
Het |
| Ano5 |
A |
G |
7: 51,226,276 (GRCm39) |
Y510C |
probably damaging |
Het |
| Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,056,327 (GRCm39) |
Q1570L |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,763 (GRCm39) |
N3415S |
possibly damaging |
Het |
| Arsk |
T |
A |
13: 76,214,772 (GRCm39) |
I361F |
probably damaging |
Het |
| C9 |
G |
A |
15: 6,512,561 (GRCm39) |
E228K |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,304,731 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,492,640 (GRCm39) |
I455V |
probably benign |
Het |
| Ckap4 |
A |
G |
10: 84,364,256 (GRCm39) |
L269P |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,486,505 (GRCm39) |
D3352V |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,041,658 (GRCm39) |
M3335K |
probably benign |
Het |
| Fam171a1 |
A |
G |
2: 3,221,412 (GRCm39) |
|
probably benign |
Het |
| Glis3 |
A |
T |
19: 28,239,991 (GRCm39) |
C97* |
probably null |
Het |
| Gm14221 |
C |
G |
2: 160,410,347 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8603 |
A |
C |
17: 13,737,075 (GRCm39) |
|
probably null |
Het |
| Gm9767 |
G |
T |
10: 25,954,469 (GRCm39) |
|
probably benign |
Het |
| Kif18b |
A |
G |
11: 102,807,102 (GRCm39) |
F78L |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,526,058 (GRCm39) |
|
probably null |
Het |
| Mipol1 |
C |
A |
12: 57,503,878 (GRCm39) |
L349I |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,803,374 (GRCm39) |
V1527A |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,359,522 (GRCm39) |
Y571* |
probably null |
Het |
| Npl |
A |
G |
1: 153,391,210 (GRCm39) |
F182L |
probably benign |
Het |
| Pan3 |
T |
A |
5: 147,440,018 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,481,680 (GRCm39) |
T342S |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,796,045 (GRCm39) |
T350A |
possibly damaging |
Het |
| Pramel28 |
T |
C |
4: 143,693,251 (GRCm39) |
T76A |
probably benign |
Het |
| Prdm4 |
A |
G |
10: 85,735,145 (GRCm39) |
S666P |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,553,252 (GRCm39) |
E148G |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,407,613 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,087,335 (GRCm39) |
S1035P |
possibly damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Supt3 |
A |
G |
17: 45,305,274 (GRCm39) |
D108G |
probably damaging |
Het |
| Tnfsf13b |
A |
G |
8: 10,081,545 (GRCm39) |
I236V |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 73,964,099 (GRCm39) |
S1511G |
probably damaging |
Het |
| Tpm1 |
G |
A |
9: 66,939,227 (GRCm39) |
|
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,282,906 (GRCm39) |
D559G |
probably damaging |
Het |
| Vmn1r117 |
T |
A |
7: 20,617,380 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,305,540 (GRCm39) |
|
probably null |
Het |
| Zfp30 |
A |
G |
7: 29,492,778 (GRCm39) |
E344G |
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 |
|
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'- AAGCTGAGTACTTCCAGCTCCC -3'
(R):5'- GAGTTACAGGCCACCATGTG -3'
Sequencing Primer
(F):5'- CTGACCTCGTCAAACTCCTGG -3'
(R):5'- GCTCTTTCCAGATGTTTAAACTTGAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation