Incidental Mutation 'IGL02606:Kctd1'
| ID |
300265 |
| 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 # |
IGL02606
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
15101742-15284503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15195937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 229
(S229P)
|
| 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: S229P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128070
Gene: ENSMUSG00000036225
AA Change: S229P
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
A |
4: 103,099,978 (GRCm39) |
N74I |
probably benign |
Het |
| Abr |
T |
C |
11: 76,369,990 (GRCm39) |
K75R |
probably damaging |
Het |
| Adcy10 |
A |
C |
1: 165,347,087 (GRCm39) |
D368A |
possibly damaging |
Het |
| Alas1 |
A |
G |
9: 106,118,309 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,576,949 (GRCm39) |
D168E |
probably benign |
Het |
| Ankar |
C |
T |
1: 72,729,444 (GRCm39) |
A82T |
possibly damaging |
Het |
| Atp2c2 |
C |
T |
8: 120,457,013 (GRCm39) |
T205I |
probably benign |
Het |
| Atp9a |
A |
T |
2: 168,494,588 (GRCm39) |
L639Q |
probably damaging |
Het |
| Btf3l4 |
T |
C |
4: 108,675,411 (GRCm39) |
D134G |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,007,257 (GRCm39) |
C425R |
probably damaging |
Het |
| Cct6b |
G |
T |
11: 82,627,271 (GRCm39) |
T322N |
probably damaging |
Het |
| Col19a1 |
G |
A |
1: 24,573,197 (GRCm39) |
R192* |
probably null |
Het |
| Cyp8b1 |
A |
T |
9: 121,744,801 (GRCm39) |
F177Y |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 152,063,941 (GRCm39) |
N474K |
probably benign |
Het |
| Dusp16 |
T |
C |
6: 134,737,999 (GRCm39) |
E13G |
probably damaging |
Het |
| Ephx2 |
T |
C |
14: 66,323,741 (GRCm39) |
N397S |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,122,913 (GRCm39) |
V145A |
possibly damaging |
Het |
| Fiz1 |
A |
G |
7: 5,012,158 (GRCm39) |
L120P |
possibly damaging |
Het |
| Galnt6 |
C |
T |
15: 100,612,100 (GRCm39) |
V181M |
probably damaging |
Het |
| Ginm1 |
A |
G |
10: 7,646,163 (GRCm39) |
V279A |
probably damaging |
Het |
| Gja10 |
T |
G |
4: 32,601,509 (GRCm39) |
I292L |
probably benign |
Het |
| Gnb3 |
T |
C |
6: 124,814,378 (GRCm39) |
S136G |
probably benign |
Het |
| Gramd1a |
A |
T |
7: 30,833,940 (GRCm39) |
V495E |
probably damaging |
Het |
| Il1rn |
G |
T |
2: 24,235,462 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,333,486 (GRCm39) |
|
probably benign |
Het |
| Kdm4a |
T |
C |
4: 118,017,486 (GRCm39) |
T527A |
probably benign |
Het |
| Kif14 |
C |
T |
1: 136,424,331 (GRCm39) |
A982V |
probably damaging |
Het |
| Klf6 |
A |
G |
13: 5,916,734 (GRCm39) |
K293R |
probably damaging |
Het |
| Letmd1 |
A |
G |
15: 100,372,972 (GRCm39) |
D92G |
probably damaging |
Het |
| Lmod1 |
G |
A |
1: 135,292,218 (GRCm39) |
V358M |
probably benign |
Het |
| Ndufs1 |
A |
T |
1: 63,199,011 (GRCm39) |
D295E |
probably damaging |
Het |
| Nek4 |
A |
G |
14: 30,685,916 (GRCm39) |
N283S |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,387,385 (GRCm39) |
T220A |
probably damaging |
Het |
| Nucks1 |
T |
A |
1: 131,852,363 (GRCm39) |
D71E |
probably damaging |
Het |
| Or4n4 |
T |
C |
14: 50,519,530 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or8g18 |
C |
A |
9: 39,149,490 (GRCm39) |
V77F |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,452,852 (GRCm39) |
T3926A |
probably benign |
Het |
| Pptc7 |
T |
A |
5: 122,451,651 (GRCm39) |
|
probably benign |
Het |
| Prdm11 |
A |
G |
2: 92,805,948 (GRCm39) |
V334A |
probably benign |
Het |
| Ptdss2 |
C |
A |
7: 140,732,911 (GRCm39) |
C231* |
probably null |
Het |
| R3hdm1 |
C |
T |
1: 128,118,456 (GRCm39) |
P570S |
probably benign |
Het |
| Rlbp1 |
T |
C |
7: 79,027,037 (GRCm39) |
T208A |
possibly damaging |
Het |
| Rnaseh2a |
T |
G |
8: 85,686,723 (GRCm39) |
D142A |
probably damaging |
Het |
| Rufy4 |
C |
T |
1: 74,172,509 (GRCm39) |
|
probably benign |
Het |
| Tektl1 |
A |
G |
10: 78,584,300 (GRCm39) |
Y372H |
probably benign |
Het |
| Tlcd4 |
G |
T |
3: 121,022,013 (GRCm39) |
D128E |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,646,565 (GRCm39) |
I11081T |
possibly damaging |
Het |
| Ubap2l |
A |
T |
3: 89,945,735 (GRCm39) |
S173R |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,926,959 (GRCm39) |
N23S |
probably damaging |
Het |
| Vwce |
C |
A |
19: 10,632,712 (GRCm39) |
|
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation