Incidental Mutation 'R1069:Kctd9'
| ID |
86138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kctd9
|
| Ensembl Gene |
ENSMUSG00000034327 |
| Gene Name |
potassium channel tetramerisation domain containing 9 |
| Synonyms |
|
| MMRRC Submission |
039155-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1069 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
67953536-67979760 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 67966869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078053]
[ENSMUST00000125212]
[ENSMUST00000145542]
[ENSMUST00000150768]
[ENSMUST00000152243]
[ENSMUST00000156700]
|
| AlphaFold |
Q80UN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078053
|
| SMART Domains |
Protein: ENSMUSP00000077200
Gene: ENSMUSG00000034327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3354
|
1 |
65 |
3.5e-22 |
PFAM |
|
BTB
|
89 |
192 |
1.76e-16 |
SMART |
|
Pfam:Pentapeptide
|
253 |
292 |
1e-14 |
PFAM |
|
Pfam:Pentapeptide_4
|
258 |
334 |
2.7e-15 |
PFAM |
|
Pfam:Pentapeptide
|
288 |
327 |
6.8e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145542
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150768
|
| SMART Domains |
Protein: ENSMUSP00000114489
Gene: ENSMUSG00000034327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KHA
|
2 |
64 |
1.4e-21 |
PFAM |
|
BTB
|
89 |
192 |
1.76e-16 |
SMART |
|
Pfam:Pentapeptide
|
219 |
255 |
9.3e-8 |
PFAM |
|
Pfam:Pentapeptide
|
248 |
280 |
9.3e-11 |
PFAM |
|
Pfam:Pentapeptide
|
258 |
297 |
3e-10 |
PFAM |
|
Pfam:Pentapeptide
|
303 |
342 |
3.2e-13 |
PFAM |
|
Pfam:Pentapeptide_4
|
308 |
384 |
3.3e-13 |
PFAM |
|
Pfam:Pentapeptide
|
338 |
377 |
2.1e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152243
|
| SMART Domains |
Protein: ENSMUSP00000120440
Gene: ENSMUSG00000034327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB_2
|
1 |
70 |
1.3e-13 |
PFAM |
|
Pfam:BTB
|
1 |
78 |
6.2e-7 |
PFAM |
|
Pfam:Pentapeptide
|
105 |
137 |
4.3e-8 |
PFAM |
|
Pfam:Pentapeptide
|
134 |
166 |
5.5e-11 |
PFAM |
|
Pfam:Pentapeptide
|
144 |
183 |
1.5e-10 |
PFAM |
|
Pfam:Pentapeptide_4
|
165 |
239 |
5.3e-9 |
PFAM |
|
Pfam:Pentapeptide
|
189 |
228 |
1.7e-13 |
PFAM |
|
Pfam:Pentapeptide
|
209 |
237 |
9.3e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156700
|
| SMART Domains |
Protein: ENSMUSP00000115002
Gene: ENSMUSG00000034327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3354
|
1 |
65 |
2.5e-23 |
PFAM |
|
SCOP:d3kvt__
|
89 |
107 |
9e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
G |
18: 6,624,037 (GRCm39) |
N106S |
probably benign |
Het |
| Akr1c21 |
C |
A |
13: 4,625,333 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,438,085 (GRCm39) |
R1570C |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,366,852 (GRCm39) |
R249C |
probably damaging |
Het |
| Cacnb4 |
C |
A |
2: 52,345,623 (GRCm39) |
R252I |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,123,844 (GRCm39) |
T480A |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,442,971 (GRCm39) |
C745* |
probably null |
Het |
| Ccr8 |
A |
G |
9: 119,923,283 (GRCm39) |
I133V |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Dgkq |
T |
C |
5: 108,803,903 (GRCm39) |
|
probably benign |
Het |
| Ecd |
A |
G |
14: 20,383,504 (GRCm39) |
C312R |
probably damaging |
Het |
| Eddm13 |
A |
T |
7: 6,258,921 (GRCm39) |
|
probably null |
Het |
| Gstm1 |
T |
C |
3: 107,920,064 (GRCm39) |
S226G |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hacd4 |
T |
A |
4: 88,355,739 (GRCm39) |
I49L |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,247,591 (GRCm39) |
N269S |
probably damaging |
Het |
| Ifitm3 |
A |
T |
7: 140,589,813 (GRCm39) |
|
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,928,251 (GRCm39) |
L1131P |
probably damaging |
Het |
| Kif2c |
T |
C |
4: 117,035,350 (GRCm39) |
T33A |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,730,819 (GRCm39) |
T38A |
probably benign |
Het |
| Lrguk |
A |
C |
6: 34,025,818 (GRCm39) |
I205L |
possibly damaging |
Het |
| Mir100hg |
G |
A |
9: 41,501,594 (GRCm39) |
R151H |
possibly damaging |
Het |
| Ncapg |
T |
A |
5: 45,833,272 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,916,724 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,018,870 (GRCm39) |
K635* |
probably null |
Het |
| Sap130 |
G |
A |
18: 31,844,682 (GRCm39) |
V898I |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,070,239 (GRCm39) |
G2516R |
probably damaging |
Het |
| Tas2r131 |
C |
T |
6: 132,934,788 (GRCm39) |
R7K |
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,284,136 (GRCm39) |
|
probably benign |
Het |
| Trim80 |
T |
C |
11: 115,338,909 (GRCm39) |
C580R |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,800,273 (GRCm39) |
I312F |
unknown |
Het |
|
| Other mutations in Kctd9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02706:Kctd9
|
APN |
14 |
67,962,130 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03034:Kctd9
|
APN |
14 |
67,971,728 (GRCm39) |
missense |
probably benign |
0.36 |
|
domain
|
UTSW |
14 |
67,962,122 (GRCm39) |
nonsense |
probably null |
|
|
model
|
UTSW |
14 |
67,967,141 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
motif
|
UTSW |
14 |
67,966,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Prototype
|
UTSW |
14 |
67,977,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0686:Kctd9
|
UTSW |
14 |
67,966,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3737:Kctd9
|
UTSW |
14 |
67,971,737 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3738:Kctd9
|
UTSW |
14 |
67,971,737 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4785:Kctd9
|
UTSW |
14 |
67,971,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Kctd9
|
UTSW |
14 |
67,967,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Kctd9
|
UTSW |
14 |
67,966,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Kctd9
|
UTSW |
14 |
67,966,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5138:Kctd9
|
UTSW |
14 |
67,966,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5232:Kctd9
|
UTSW |
14 |
67,962,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5454:Kctd9
|
UTSW |
14 |
67,977,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6642:Kctd9
|
UTSW |
14 |
67,962,122 (GRCm39) |
nonsense |
probably null |
|
|
R7128:Kctd9
|
UTSW |
14 |
67,975,972 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7863:Kctd9
|
UTSW |
14 |
67,967,166 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8068:Kctd9
|
UTSW |
14 |
67,962,111 (GRCm39) |
missense |
unknown |
|
|
R8166:Kctd9
|
UTSW |
14 |
67,967,141 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8887:Kctd9
|
UTSW |
14 |
67,962,016 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGGGATTTTGGCAACTTACTGCAC -3'
(R):5'- GCTTATTTCCCCAGACACCTGTGATAC -3'
Sequencing Primer
(F):5'- GCATCACCCTACCAGGTTG -3'
(R):5'- ACCATTTTAATAAAGAAAATCCCCCC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation