Incidental Mutation 'R6642:Kctd9'
| ID |
525873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kctd9
|
| Ensembl Gene |
ENSMUSG00000034327 |
| Gene Name |
potassium channel tetramerisation domain containing 9 |
| Synonyms |
|
| MMRRC Submission |
044763-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6642 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
67953536-67979760 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 67962122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 55
(L55*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078053]
[ENSMUST00000125212]
[ENSMUST00000145542]
[ENSMUST00000150768]
[ENSMUST00000152243]
[ENSMUST00000156700]
|
| AlphaFold |
Q80UN1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000078053
AA Change: L55*
|
| SMART Domains |
Protein: ENSMUSP00000077200
Gene: ENSMUSG00000034327
AA Change: L55*
| 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 null
Transcript: ENSMUST00000150768
AA Change: L55*
|
| SMART Domains |
Protein: ENSMUSP00000114489
Gene: ENSMUSG00000034327
AA Change: L55*
| 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 null
Transcript: ENSMUST00000156700
AA Change: L55*
|
| SMART Domains |
Protein: ENSMUSP00000115002
Gene: ENSMUSG00000034327
AA Change: L55*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3354
|
1 |
65 |
2.5e-23 |
PFAM |
|
SCOP:d3kvt__
|
89 |
107 |
9e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.9754 |
| 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 |
| Kctd20 |
A |
T |
17: 29,180,640 (GRCm39) |
H138L |
probably damaging |
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 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 |
|
R1069:Kctd9
|
UTSW |
14 |
67,966,869 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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'- CTGTAACGTCAGTGATTCGTTG -3'
(R):5'- GTGGTAAACCCCTGCTATTATCTC -3'
Sequencing Primer
(F):5'- AACGTCAGTGATTCGTTGTATGTG -3'
(R):5'- AAACCCCTGCTATTATCTCTAGTTAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation