Incidental Mutation 'R8496:Kctd1'
| ID |
658297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kctd1
|
| Ensembl Gene |
ENSMUSG00000036225 |
| Gene Name |
potassium channel tetramerisation domain containing 1 |
| Synonyms |
4933402K10Rik |
| MMRRC Submission |
067938-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
15101742-15284503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15107228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 150
(C150S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025992]
[ENSMUST00000168989]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025992
AA Change: C150S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025992
Gene: ENSMUSG00000036225
AA Change: C150S
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
38 |
140 |
5e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168989
AA Change: C746S
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128070
Gene: ENSMUSG00000036225
AA Change: C746S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,645,120 (GRCm39) |
E335G |
probably benign |
Het |
| Afp |
C |
T |
5: 90,639,572 (GRCm39) |
S34F |
probably damaging |
Het |
| Ano6 |
T |
A |
15: 95,847,807 (GRCm39) |
I639N |
probably damaging |
Het |
| Atp13a1 |
T |
G |
8: 70,250,618 (GRCm39) |
V411G |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,461,309 (GRCm39) |
C383S |
probably damaging |
Het |
| Capn2 |
T |
C |
1: 182,304,840 (GRCm39) |
I556V |
probably benign |
Het |
| Cd34 |
A |
G |
1: 194,642,089 (GRCm39) |
E322G |
probably benign |
Het |
| Cel |
T |
C |
2: 28,446,200 (GRCm39) |
D557G |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,600,634 (GRCm39) |
I996V |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,453,182 (GRCm39) |
*514R |
probably null |
Het |
| Cry2 |
C |
G |
2: 92,257,284 (GRCm39) |
R95P |
probably damaging |
Het |
| Ctse |
T |
A |
1: 131,592,118 (GRCm39) |
I148N |
probably damaging |
Het |
| Cyp4f13 |
G |
C |
17: 33,143,833 (GRCm39) |
P497R |
probably damaging |
Het |
| Dsn1 |
C |
T |
2: 156,839,640 (GRCm39) |
V254M |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,843,377 (GRCm39) |
D755G |
possibly damaging |
Het |
| Gm4847 |
T |
A |
1: 166,469,761 (GRCm39) |
H104L |
possibly damaging |
Het |
| Gpr88 |
T |
C |
3: 116,046,117 (GRCm39) |
T65A |
possibly damaging |
Het |
| Gtse1 |
A |
G |
15: 85,746,283 (GRCm39) |
D33G |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,943,325 (GRCm39) |
Y455H |
probably benign |
Het |
| Kctd11 |
T |
G |
11: 69,770,877 (GRCm39) |
T54P |
probably damaging |
Het |
| Kif1b |
C |
A |
4: 149,277,068 (GRCm39) |
G56* |
probably null |
Het |
| Kifap3 |
T |
A |
1: 163,656,866 (GRCm39) |
|
probably null |
Het |
| Naip5 |
G |
T |
13: 100,349,247 (GRCm39) |
H1360Q |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,147,127 (GRCm39) |
E1198G |
probably damaging |
Het |
| Nova1 |
T |
A |
12: 46,760,325 (GRCm39) |
K90* |
probably null |
Het |
| Odc1 |
T |
A |
12: 17,598,396 (GRCm39) |
L179H |
probably damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,388 (GRCm39) |
H193Q |
probably damaging |
Het |
| Or1ad8 |
T |
C |
11: 50,897,877 (GRCm39) |
V26A |
probably benign |
Het |
| Or1s2 |
A |
G |
19: 13,758,384 (GRCm39) |
N136S |
probably benign |
Het |
| Palm |
C |
T |
10: 79,642,485 (GRCm39) |
T6I |
probably benign |
Het |
| Parp10 |
T |
A |
15: 76,117,749 (GRCm39) |
D879V |
probably damaging |
Het |
| Phf2 |
A |
G |
13: 48,971,181 (GRCm39) |
V497A |
unknown |
Het |
| Pparg |
A |
G |
6: 115,440,112 (GRCm39) |
I199V |
probably benign |
Het |
| Ppm1b |
T |
A |
17: 85,301,660 (GRCm39) |
I180N |
probably damaging |
Het |
| Prdx5 |
A |
T |
19: 6,885,542 (GRCm39) |
C37* |
probably null |
Het |
| Ptprz1 |
A |
T |
6: 22,972,797 (GRCm39) |
T236S |
probably damaging |
Het |
| Rab5b |
G |
A |
10: 128,518,776 (GRCm39) |
Q119* |
probably null |
Het |
| Rdh19 |
T |
A |
10: 127,695,469 (GRCm39) |
W228R |
probably damaging |
Het |
| Schip1 |
G |
T |
3: 68,401,946 (GRCm39) |
G36C |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,819,383 (GRCm39) |
V321A |
probably damaging |
Het |
| Slc6a5 |
T |
A |
7: 49,585,960 (GRCm39) |
V426D |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,178,896 (GRCm39) |
E4526V |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,268,441 (GRCm39) |
K2083E |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,241,547 (GRCm39) |
I2143F |
probably benign |
Het |
| Tfap4 |
T |
C |
16: 4,369,170 (GRCm39) |
D90G |
probably damaging |
Het |
| Ttll12 |
T |
C |
15: 83,462,010 (GRCm39) |
Y569C |
probably damaging |
Het |
| Zfp326 |
T |
G |
5: 106,036,451 (GRCm39) |
S121A |
probably damaging |
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 |
|
R2389:Kctd1
|
UTSW |
18 |
15,195,268 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
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 |
|
|
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'- CCACATGCTACTGGATACCTTACC -3'
(R):5'- GAAAACAAAGCATGACTGTCTTCAG -3'
Sequencing Primer
(F):5'- ATGCTACTGGATACCTTACCTGAAC -3'
(R):5'- CTGTCTTCAGTACCTTCATTGTATG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation