Incidental Mutation 'IGL01755:Kctd1'
| ID |
153174 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01755
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
15101742-15284503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15195694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 310
(C310R)
|
| 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: C310R
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128070
Gene: ENSMUSG00000036225
AA Change: C310R
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf6 |
A |
G |
1: 170,616,180 (GRCm39) |
I520T |
possibly damaging |
Het |
| Azgp1 |
A |
T |
5: 137,988,109 (GRCm39) |
K297M |
possibly damaging |
Het |
| Cyp2e1 |
A |
G |
7: 140,354,469 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
C |
A |
13: 60,908,989 (GRCm39) |
L1201M |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,908,990 (GRCm39) |
L1201Q |
possibly damaging |
Het |
| Insrr |
A |
T |
3: 87,721,493 (GRCm39) |
D1133V |
probably damaging |
Het |
| Kcnc4 |
T |
C |
3: 107,355,491 (GRCm39) |
N319S |
probably damaging |
Het |
| Nefl |
A |
G |
14: 68,323,526 (GRCm39) |
D384G |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,854,553 (GRCm39) |
N1029S |
probably benign |
Het |
| Nup107 |
T |
C |
10: 117,610,398 (GRCm39) |
Y348C |
probably damaging |
Het |
| Or5b117 |
T |
C |
19: 13,431,179 (GRCm39) |
K234R |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,687,854 (GRCm39) |
C112S |
possibly damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,285,951 (GRCm39) |
N284Y |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,645,945 (GRCm39) |
E212G |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,169 (GRCm39) |
N401K |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,347,980 (GRCm39) |
F1183S |
possibly damaging |
Het |
| Plekhf2 |
A |
T |
4: 10,991,308 (GRCm39) |
N11K |
probably damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,378,516 (GRCm39) |
Y241H |
probably benign |
Het |
| Sltm |
T |
G |
9: 70,491,204 (GRCm39) |
|
probably null |
Het |
| Taf4b |
A |
G |
18: 15,031,042 (GRCm39) |
T809A |
probably benign |
Het |
| Taf4b |
C |
A |
18: 15,031,043 (GRCm39) |
T809N |
probably benign |
Het |
| Tesk1 |
T |
C |
4: 43,445,820 (GRCm39) |
|
probably null |
Het |
| Tspan8 |
C |
T |
10: 115,671,203 (GRCm39) |
T120M |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,551,727 (GRCm39) |
D31275A |
probably damaging |
Het |
| Vcl |
C |
A |
14: 21,046,038 (GRCm39) |
Q334K |
probably damaging |
Het |
| Zfp94 |
G |
A |
7: 24,010,906 (GRCm39) |
|
probably benign |
Het |
| Zkscan17 |
A |
G |
11: 59,378,241 (GRCm39) |
F314S |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation