Incidental Mutation 'R2389:Kctd1'
ID |
247746 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kctd1
|
Ensembl Gene |
ENSMUSG00000036225 |
Gene Name |
potassium channel tetramerisation domain containing 1 |
Synonyms |
4933402K10Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2389 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
15101742-15284503 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 15195268 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 452
(S452P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128070
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025992]
[ENSMUST00000168989]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025992
|
SMART Domains |
Protein: ENSMUSP00000025992 Gene: ENSMUSG00000036225
Domain | Start | End | E-Value | Type |
BTB
|
38 |
140 |
5e-7 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168989
AA Change: S452P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000128070 Gene: ENSMUSG00000036225 AA Change: S452P
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
44 |
N/A |
INTRINSIC |
low complexity region
|
52 |
62 |
N/A |
INTRINSIC |
low complexity region
|
70 |
101 |
N/A |
INTRINSIC |
low complexity region
|
124 |
145 |
N/A |
INTRINSIC |
low complexity region
|
217 |
234 |
N/A |
INTRINSIC |
Pfam:DUF3504
|
278 |
435 |
2.6e-32 |
PFAM |
low complexity region
|
482 |
503 |
N/A |
INTRINSIC |
low complexity region
|
559 |
567 |
N/A |
INTRINSIC |
BTB
|
634 |
736 |
5e-7 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr5 |
T |
C |
2: 158,467,132 (GRCm39) |
V24A |
probably benign |
Het |
Adrm1 |
C |
A |
2: 179,816,116 (GRCm39) |
|
probably benign |
Het |
Cdk13 |
T |
A |
13: 17,926,361 (GRCm39) |
H813L |
probably damaging |
Het |
Cdkal1 |
T |
A |
13: 29,736,219 (GRCm39) |
H300L |
probably damaging |
Het |
Cnksr1 |
T |
C |
4: 133,961,057 (GRCm39) |
I235V |
probably benign |
Het |
Ctnnd1 |
T |
A |
2: 84,454,615 (GRCm39) |
Q11L |
probably null |
Het |
Dync2h1 |
T |
C |
9: 7,122,618 (GRCm39) |
I2113V |
possibly damaging |
Het |
Eng |
T |
C |
2: 32,547,684 (GRCm39) |
|
probably null |
Het |
Gria2 |
A |
G |
3: 80,609,932 (GRCm39) |
W626R |
probably damaging |
Het |
Kdm4c |
T |
C |
4: 74,252,107 (GRCm39) |
|
probably null |
Het |
Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Nat8f7 |
C |
A |
6: 85,684,476 (GRCm39) |
M121I |
probably benign |
Het |
Ppfibp1 |
A |
T |
6: 146,923,669 (GRCm39) |
H667L |
probably damaging |
Het |
Pramel31 |
T |
A |
4: 144,089,983 (GRCm39) |
L341H |
probably damaging |
Het |
Prss12 |
A |
G |
3: 123,280,670 (GRCm39) |
N452D |
possibly damaging |
Het |
Rab17 |
T |
C |
1: 90,891,926 (GRCm39) |
T33A |
probably benign |
Het |
Rxfp3 |
A |
G |
15: 11,036,770 (GRCm39) |
C201R |
probably damaging |
Het |
Spag17 |
A |
G |
3: 100,014,153 (GRCm39) |
Y2142C |
probably benign |
Het |
Stx6 |
T |
C |
1: 155,073,164 (GRCm39) |
V225A |
possibly damaging |
Het |
Ugt2b5 |
G |
A |
5: 87,275,541 (GRCm39) |
P437S |
probably damaging |
Het |
Usp13 |
A |
G |
3: 32,959,613 (GRCm39) |
K568R |
probably benign |
Het |
Zan |
A |
G |
5: 137,474,642 (GRCm39) |
|
probably null |
Het |
Zbtb8b |
T |
C |
4: 129,327,066 (GRCm39) |
E33G |
probably benign |
Het |
Zcchc17 |
T |
A |
4: 130,220,997 (GRCm39) |
K185* |
probably null |
Het |
|
Other mutations in Kctd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01318:Kctd1
|
APN |
18 |
15,195,747 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL01402:Kctd1
|
APN |
18 |
15,102,610 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01404:Kctd1
|
APN |
18 |
15,102,610 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01755:Kctd1
|
APN |
18 |
15,195,694 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02606:Kctd1
|
APN |
18 |
15,195,937 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02725:Kctd1
|
APN |
18 |
15,102,667 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02946:Kctd1
|
APN |
18 |
15,107,036 (GRCm39) |
critical splice donor site |
probably null |
|
R0128:Kctd1
|
UTSW |
18 |
15,107,237 (GRCm39) |
missense |
probably benign |
0.00 |
R0598:Kctd1
|
UTSW |
18 |
15,140,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R1398:Kctd1
|
UTSW |
18 |
15,195,654 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1669:Kctd1
|
UTSW |
18 |
15,195,517 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1701:Kctd1
|
UTSW |
18 |
15,102,617 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1745:Kctd1
|
UTSW |
18 |
15,196,263 (GRCm39) |
intron |
probably benign |
|
R1779:Kctd1
|
UTSW |
18 |
15,194,839 (GRCm39) |
missense |
probably benign |
0.01 |
R2083:Kctd1
|
UTSW |
18 |
15,107,112 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3010:Kctd1
|
UTSW |
18 |
15,107,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R4576:Kctd1
|
UTSW |
18 |
15,140,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R4673:Kctd1
|
UTSW |
18 |
15,196,284 (GRCm39) |
intron |
probably benign |
|
R4884:Kctd1
|
UTSW |
18 |
15,107,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R4961:Kctd1
|
UTSW |
18 |
15,195,580 (GRCm39) |
missense |
probably damaging |
0.97 |
R5169:Kctd1
|
UTSW |
18 |
15,195,822 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5398:Kctd1
|
UTSW |
18 |
15,195,322 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5695:Kctd1
|
UTSW |
18 |
15,196,573 (GRCm39) |
intron |
probably benign |
|
R5893:Kctd1
|
UTSW |
18 |
15,102,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6175:Kctd1
|
UTSW |
18 |
15,102,688 (GRCm39) |
nonsense |
probably null |
|
R6767:Kctd1
|
UTSW |
18 |
15,195,232 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6852:Kctd1
|
UTSW |
18 |
15,119,401 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6889:Kctd1
|
UTSW |
18 |
15,107,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R7189:Kctd1
|
UTSW |
18 |
15,195,700 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7228:Kctd1
|
UTSW |
18 |
15,195,469 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7688:Kctd1
|
UTSW |
18 |
15,107,255 (GRCm39) |
missense |
probably benign |
0.03 |
R8085:Kctd1
|
UTSW |
18 |
15,140,901 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8195:Kctd1
|
UTSW |
18 |
15,196,300 (GRCm39) |
missense |
unknown |
|
R8496:Kctd1
|
UTSW |
18 |
15,107,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R8924:Kctd1
|
UTSW |
18 |
15,102,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8978:Kctd1
|
UTSW |
18 |
15,119,491 (GRCm39) |
missense |
|
|
R9094:Kctd1
|
UTSW |
18 |
15,195,369 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9255:Kctd1
|
UTSW |
18 |
15,194,853 (GRCm39) |
missense |
probably benign |
0.00 |
R9629:Kctd1
|
UTSW |
18 |
15,196,611 (GRCm39) |
missense |
unknown |
|
R9680:Kctd1
|
UTSW |
18 |
15,140,822 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Kctd1
|
UTSW |
18 |
15,196,182 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGATATAAGTGTTACCCAGCGAG -3'
(R):5'- ACTGAGTTCTGTCCCTACGC -3'
Sequencing Primer
(F):5'- CAGAGAGTCGGTATAGCA -3'
(R):5'- GTCAAGTACCTGTCTAAGCGC -3'
|
Posted On |
2014-11-11 |