Incidental Mutation 'R6642:Kctd20'
ID |
525888 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kctd20
|
Ensembl Gene |
ENSMUSG00000005936 |
Gene Name |
potassium channel tetramerisation domain containing 20 |
Synonyms |
D17Ertd562e, 2410004N11Rik |
MMRRC Submission |
044763-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
R6642 (G1)
|
Quality Score |
222.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
29171420-29188523 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 29180640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 138
(H138L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057174]
[ENSMUST00000117672]
[ENSMUST00000118762]
[ENSMUST00000122163]
[ENSMUST00000153462]
[ENSMUST00000153831]
[ENSMUST00000168507]
|
AlphaFold |
Q8CDD8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057174
AA Change: H138L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000062282 Gene: ENSMUSG00000005936 AA Change: H138L
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 |
probably damaging
Transcript: ENSMUST00000117672
AA Change: H67L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113740 Gene: ENSMUSG00000005936 AA Change: H67L
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
BTB
|
46 |
151 |
1.77e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118762
AA Change: H67L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112890 Gene: ENSMUSG00000005936 AA Change: H67L
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
BTB
|
46 |
151 |
1.77e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122163
AA Change: H138L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112957 Gene: ENSMUSG00000005936 AA Change: H138L
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 |
possibly damaging
Transcript: ENSMUST00000153462
AA Change: H67L
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000120301 Gene: ENSMUSG00000005936 AA Change: H67L
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: ENSMUST00000153831
AA Change: H67L
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000122690 Gene: ENSMUSG00000005936 AA Change: H67L
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
BTB
|
46 |
151 |
1.77e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168507
AA Change: H138L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131435 Gene: ENSMUSG00000005936 AA Change: H138L
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
T |
A |
2: 152,282,790 (GRCm39) |
V215D |
probably damaging |
Het |
Ablim1 |
A |
G |
19: 57,119,284 (GRCm39) |
S267P |
probably benign |
Het |
Adcy2 |
C |
T |
13: 68,768,945 (GRCm39) |
C1061Y |
probably damaging |
Het |
Aip |
C |
A |
19: 4,165,149 (GRCm39) |
C240F |
probably damaging |
Het |
Aldh1a2 |
A |
T |
9: 71,160,268 (GRCm39) |
D98V |
probably damaging |
Het |
Arhgef40 |
T |
C |
14: 52,228,419 (GRCm39) |
|
probably benign |
Het |
Cplx2 |
G |
T |
13: 54,526,736 (GRCm39) |
R48L |
probably damaging |
Het |
Ctrl |
C |
T |
8: 106,659,451 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,353,006 (GRCm39) |
T2720A |
probably benign |
Het |
Fzd1 |
A |
G |
5: 4,805,696 (GRCm39) |
Y629H |
probably damaging |
Het |
Gins1 |
T |
C |
2: 150,770,038 (GRCm39) |
|
probably null |
Het |
Gpr149 |
C |
T |
3: 62,437,995 (GRCm39) |
A721T |
probably damaging |
Het |
Helb |
A |
T |
10: 119,920,835 (GRCm39) |
M1036K |
probably benign |
Het |
Il16 |
A |
G |
7: 83,337,335 (GRCm39) |
F127L |
probably benign |
Het |
Kctd9 |
T |
A |
14: 67,962,122 (GRCm39) |
L55* |
probably null |
Het |
Marf1 |
C |
T |
16: 13,950,611 (GRCm39) |
R925H |
probably benign |
Het |
Mbip |
A |
T |
12: 56,389,191 (GRCm39) |
|
probably benign |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nod1 |
T |
G |
6: 54,925,014 (GRCm39) |
D99A |
probably damaging |
Het |
Olfm4 |
A |
G |
14: 80,259,107 (GRCm39) |
K419E |
probably damaging |
Het |
Or6c214 |
A |
T |
10: 129,591,232 (GRCm39) |
L29Q |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,521,845 (GRCm39) |
D137G |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,743,682 (GRCm39) |
E191G |
probably benign |
Het |
Rassf10 |
A |
T |
7: 112,554,784 (GRCm39) |
T462S |
probably benign |
Het |
Rundc3b |
A |
T |
5: 8,629,071 (GRCm39) |
I110N |
probably damaging |
Het |
Sgsm3 |
C |
T |
15: 80,893,901 (GRCm39) |
R479C |
probably damaging |
Het |
Tmc7 |
A |
T |
7: 118,144,834 (GRCm39) |
Y575* |
probably null |
Het |
Trim33 |
T |
C |
3: 103,244,830 (GRCm39) |
L310S |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
Ttn |
T |
C |
2: 76,565,740 (GRCm39) |
E28204G |
probably damaging |
Het |
Vmn1r233 |
A |
T |
17: 21,214,002 (GRCm39) |
L316Q |
probably damaging |
Het |
Vmn2r110 |
A |
T |
17: 20,803,779 (GRCm39) |
N265K |
possibly damaging |
Het |
Xylb |
A |
G |
9: 119,196,559 (GRCm39) |
H114R |
probably damaging |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
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 |
R1270:Kctd20
|
UTSW |
17 |
29,185,905 (GRCm39) |
missense |
possibly damaging |
0.87 |
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 |
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'- AACAAGGGCTCATGCTTCCAG -3'
(R):5'- AAACAGCGGGACTTAGGTCTC -3'
Sequencing Primer
(F):5'- GCTCATGCTTCCAGAGTGG -3'
(R):5'- TCTGACCTTTGCAACTCAGAGAG -3'
|
Posted On |
2018-06-22 |