Incidental Mutation 'R0598:Kctd1'
ID |
55183 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kctd1
|
Ensembl Gene |
ENSMUSG00000036225 |
Gene Name |
potassium channel tetramerisation domain containing 1 |
Synonyms |
4933402K10Rik |
MMRRC Submission |
038787-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0598 (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 15140822 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 40
(V40A)
|
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: V40A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025992 Gene: ENSMUSG00000036225 AA Change: V40A
Domain | Start | End | E-Value | Type |
BTB
|
38 |
140 |
5e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000096579
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168989
AA Change: V636A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128070 Gene: ENSMUSG00000036225 AA Change: V636A
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: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427I04Rik |
A |
T |
4: 123,754,681 (GRCm39) |
E198D |
possibly damaging |
Het |
Abca6 |
A |
T |
11: 110,087,980 (GRCm39) |
I1049N |
probably damaging |
Het |
Acly |
A |
T |
11: 100,369,216 (GRCm39) |
N1014K |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,952,471 (GRCm39) |
E132G |
probably benign |
Het |
Aph1c |
A |
T |
9: 66,740,601 (GRCm39) |
W42R |
probably damaging |
Het |
Bptf |
G |
T |
11: 106,963,791 (GRCm39) |
T1738K |
probably damaging |
Het |
Cdhr2 |
A |
T |
13: 54,874,552 (GRCm39) |
I875F |
probably damaging |
Het |
Cpt2 |
G |
T |
4: 107,764,135 (GRCm39) |
T543N |
probably damaging |
Het |
Cstdc7 |
T |
A |
18: 42,306,436 (GRCm39) |
M1K |
probably null |
Het |
Dnah9 |
T |
C |
11: 66,009,703 (GRCm39) |
E728G |
probably benign |
Het |
Itgbl1 |
A |
G |
14: 124,094,848 (GRCm39) |
H167R |
possibly damaging |
Het |
L3mbtl4 |
T |
G |
17: 68,766,768 (GRCm39) |
D158E |
probably benign |
Het |
Lrp8 |
A |
C |
4: 107,714,434 (GRCm39) |
I603L |
possibly damaging |
Het |
Lypd8l |
G |
A |
11: 58,499,230 (GRCm39) |
S196L |
probably benign |
Het |
Mrps9 |
C |
T |
1: 42,944,577 (GRCm39) |
T365I |
probably damaging |
Het |
Or1a1 |
A |
T |
11: 74,086,658 (GRCm39) |
T110S |
possibly damaging |
Het |
Or1e1 |
G |
T |
11: 73,244,729 (GRCm39) |
R50L |
probably benign |
Het |
Or2y1d |
A |
G |
11: 49,322,230 (GRCm39) |
D309G |
probably benign |
Het |
Padi1 |
C |
A |
4: 140,542,098 (GRCm39) |
R608L |
possibly damaging |
Het |
Pkhd1 |
A |
T |
1: 20,271,114 (GRCm39) |
F3146L |
probably damaging |
Het |
Rnf145 |
T |
C |
11: 44,439,770 (GRCm39) |
S189P |
probably damaging |
Het |
Sez6 |
G |
T |
11: 77,868,647 (GRCm39) |
D974Y |
possibly damaging |
Het |
St3gal3 |
A |
T |
4: 117,964,829 (GRCm39) |
L11Q |
probably benign |
Het |
Syt14 |
T |
C |
1: 192,579,622 (GRCm39) |
E554G |
probably damaging |
Het |
Tectb |
G |
T |
19: 55,178,018 (GRCm39) |
E170* |
probably null |
Het |
Themis2 |
A |
T |
4: 132,516,994 (GRCm39) |
C169S |
possibly damaging |
Het |
Tmem88b |
A |
T |
4: 155,868,824 (GRCm39) |
D141E |
probably benign |
Het |
Uaca |
T |
A |
9: 60,778,203 (GRCm39) |
Y685* |
probably null |
Het |
Vsnl1 |
T |
C |
12: 11,436,860 (GRCm39) |
S40G |
probably benign |
Het |
Vxn |
T |
G |
1: 9,690,067 (GRCm39) |
I98S |
probably benign |
Het |
Wdr64 |
A |
T |
1: 175,633,465 (GRCm39) |
Q905H |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGAGCAGCTTCTGTAGGTCATGTC -3'
(R):5'- AAGCCCTGAGAGTCATCAGGACTG -3'
Sequencing Primer
(F):5'- AGGTCATGTCTTACACTTGGCAG -3'
(R):5'- AATTGATCCCCATTGGCACG -3'
|
Posted On |
2013-07-11 |