Incidental Mutation 'R1270:Kctd20'
ID |
151290 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kctd20
|
Ensembl Gene |
ENSMUSG00000005936 |
Gene Name |
potassium channel tetramerisation domain containing 20 |
Synonyms |
D17Ertd562e, 2410004N11Rik |
MMRRC Submission |
039336-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.236)
|
Stock # |
R1270 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
29171420-29188523 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29185905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 416
(D416G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009138]
[ENSMUST00000057174]
[ENSMUST00000117672]
[ENSMUST00000118762]
[ENSMUST00000122163]
[ENSMUST00000153462]
[ENSMUST00000168507]
[ENSMUST00000153831]
|
AlphaFold |
Q8CDD8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000009138
|
SMART Domains |
Protein: ENSMUSP00000009138 Gene: ENSMUSG00000024006
Domain | Start | End | E-Value | Type |
Blast:S_TKc
|
31 |
77 |
1e-9 |
BLAST |
S_TKc
|
89 |
382 |
1.69e-94 |
SMART |
S_TK_X
|
383 |
447 |
1.23e-2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057174
AA Change: D416G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000062282 Gene: ENSMUSG00000005936 AA Change: D416G
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
low complexity region
|
101 |
110 |
N/A |
INTRINSIC |
BTB
|
117 |
222 |
1.77e-7 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117672
AA Change: D345G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113740 Gene: ENSMUSG00000005936 AA Change: D345G
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
BTB
|
46 |
151 |
1.77e-7 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118762
AA Change: D345G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112890 Gene: ENSMUSG00000005936 AA Change: D345G
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
BTB
|
46 |
151 |
1.77e-7 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122163
AA Change: D416G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112957 Gene: ENSMUSG00000005936 AA Change: D416G
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
low complexity region
|
101 |
110 |
N/A |
INTRINSIC |
BTB
|
117 |
222 |
1.77e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150858
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153462
|
SMART Domains |
Protein: ENSMUSP00000120301 Gene: ENSMUSG00000005936
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
BTB
|
46 |
151 |
1.77e-7 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168507
AA Change: D416G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131435 Gene: ENSMUSG00000005936 AA Change: D416G
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
low complexity region
|
101 |
110 |
N/A |
INTRINSIC |
BTB
|
117 |
222 |
1.77e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156732
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153831
|
SMART Domains |
Protein: ENSMUSP00000122690 Gene: ENSMUSG00000005936
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
BTB
|
46 |
151 |
1.77e-7 |
SMART |
|
Meta Mutation Damage Score |
0.0608 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
C |
T |
11: 94,248,210 (GRCm39) |
R1129Q |
probably damaging |
Het |
Adam7 |
T |
A |
14: 68,765,118 (GRCm39) |
K93M |
probably damaging |
Het |
Aldh1a2 |
T |
G |
9: 71,188,988 (GRCm39) |
L301V |
probably benign |
Het |
Alg9 |
A |
G |
9: 50,698,872 (GRCm39) |
|
probably benign |
Het |
Aspg |
C |
T |
12: 112,082,881 (GRCm39) |
T187I |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,006,333 (GRCm39) |
H1662Q |
probably damaging |
Het |
C4a |
A |
G |
17: 35,033,505 (GRCm39) |
|
noncoding transcript |
Het |
Cdh2 |
T |
G |
18: 16,760,614 (GRCm39) |
|
probably benign |
Het |
Ceacam1 |
T |
C |
7: 25,165,739 (GRCm39) |
|
probably null |
Het |
Cep250 |
G |
A |
2: 155,832,601 (GRCm39) |
V1509I |
probably benign |
Het |
D130043K22Rik |
T |
C |
13: 25,041,321 (GRCm39) |
S248P |
probably benign |
Het |
Dgkd |
A |
T |
1: 87,861,847 (GRCm39) |
M801L |
probably damaging |
Het |
Edc4 |
A |
G |
8: 106,617,896 (GRCm39) |
E1152G |
possibly damaging |
Het |
Enkd1 |
A |
G |
8: 106,430,533 (GRCm39) |
I334T |
probably damaging |
Het |
Gli3 |
C |
T |
13: 15,898,329 (GRCm39) |
A803V |
probably benign |
Het |
Glrx3 |
A |
G |
7: 137,055,143 (GRCm39) |
N95S |
probably benign |
Het |
Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
Kank2 |
A |
T |
9: 21,684,056 (GRCm39) |
N724K |
probably damaging |
Het |
Lmtk3 |
A |
G |
7: 45,443,252 (GRCm39) |
E645G |
probably damaging |
Het |
Mrgpra9 |
A |
T |
7: 46,902,531 (GRCm39) |
|
probably null |
Het |
Muc1 |
T |
A |
3: 89,139,414 (GRCm39) |
Y605N |
probably damaging |
Het |
Or4a47 |
C |
T |
2: 89,665,666 (GRCm39) |
V208M |
possibly damaging |
Het |
Or8g17 |
A |
C |
9: 38,930,543 (GRCm39) |
I98R |
possibly damaging |
Het |
Prx |
T |
A |
7: 27,218,355 (GRCm39) |
I952N |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,799,856 (GRCm39) |
Y90* |
probably null |
Het |
Swt1 |
A |
T |
1: 151,260,142 (GRCm39) |
N752K |
probably benign |
Het |
Taar1 |
T |
C |
10: 23,796,431 (GRCm39) |
V43A |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,932,486 (GRCm39) |
N1702D |
probably damaging |
Het |
Tff2 |
C |
T |
17: 31,363,143 (GRCm39) |
|
probably null |
Het |
Trim2 |
G |
A |
3: 84,074,984 (GRCm39) |
A686V |
probably damaging |
Het |
Ube2q2l |
A |
T |
6: 136,378,785 (GRCm39) |
I15N |
probably damaging |
Het |
|
Other mutations in Kctd20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02218:Kctd20
|
APN |
17 |
29,176,877 (GRCm39) |
missense |
probably benign |
0.36 |
IGL02253:Kctd20
|
APN |
17 |
29,180,460 (GRCm39) |
missense |
probably benign |
0.12 |
R0839:Kctd20
|
UTSW |
17 |
29,176,872 (GRCm39) |
start codon destroyed |
possibly damaging |
0.79 |
R1768:Kctd20
|
UTSW |
17 |
29,185,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R1768:Kctd20
|
UTSW |
17 |
29,181,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R4797:Kctd20
|
UTSW |
17 |
29,185,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R5990:Kctd20
|
UTSW |
17 |
29,185,884 (GRCm39) |
missense |
probably benign |
0.01 |
R6642:Kctd20
|
UTSW |
17 |
29,180,640 (GRCm39) |
missense |
probably damaging |
0.98 |
R6799:Kctd20
|
UTSW |
17 |
29,182,351 (GRCm39) |
splice site |
probably null |
|
R6938:Kctd20
|
UTSW |
17 |
29,180,555 (GRCm39) |
missense |
probably benign |
|
R7393:Kctd20
|
UTSW |
17 |
29,182,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R7862:Kctd20
|
UTSW |
17 |
29,181,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R8050:Kctd20
|
UTSW |
17 |
29,171,732 (GRCm39) |
critical splice donor site |
probably null |
|
R8725:Kctd20
|
UTSW |
17 |
29,184,025 (GRCm39) |
nonsense |
probably null |
|
R8727:Kctd20
|
UTSW |
17 |
29,184,025 (GRCm39) |
nonsense |
probably null |
|
R9171:Kctd20
|
UTSW |
17 |
29,185,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R9602:Kctd20
|
UTSW |
17 |
29,180,442 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATCTACAATTATGTGCAGCGCCC -3'
(R):5'- GCCGCCTAATTACCAGAGAGCTTC -3'
Sequencing Primer
(F):5'- AGCGCCCTTTTATCCAGATG -3'
(R):5'- GAGAGCTTCTTCACCCAGC -3'
|
Posted On |
2014-01-29 |