Incidental Mutation 'R5232:Kctd9'
| ID |
398645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kctd9
|
| Ensembl Gene |
ENSMUSG00000034327 |
| Gene Name |
potassium channel tetramerisation domain containing 9 |
| Synonyms |
|
| MMRRC Submission |
042804-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5232 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
67953536-67979760 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67962110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 51
(D51V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078053]
[ENSMUST00000125212]
[ENSMUST00000145542]
[ENSMUST00000150768]
[ENSMUST00000152243]
[ENSMUST00000156700]
|
| AlphaFold |
Q80UN1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000078053
AA Change: D51V
|
| SMART Domains |
Protein: ENSMUSP00000077200
Gene: ENSMUSG00000034327
AA Change: D51V
| 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 damaging
Transcript: ENSMUST00000150768
AA Change: D51V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114489
Gene: ENSMUSG00000034327
AA Change: D51V
| 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 damaging
Transcript: ENSMUST00000156700
AA Change: D51V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115002
Gene: ENSMUSG00000034327
AA Change: D51V
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,157,672 (GRCm39) |
E1295G |
probably damaging |
Het |
| Adarb2 |
C |
A |
13: 8,763,676 (GRCm39) |
H524Q |
possibly damaging |
Het |
| Arhgap26 |
A |
G |
18: 39,126,529 (GRCm39) |
M1V |
probably null |
Het |
| Atp10b |
G |
A |
11: 43,093,006 (GRCm39) |
R447H |
probably damaging |
Het |
| B4galnt3 |
T |
A |
6: 120,209,949 (GRCm39) |
Y58F |
probably damaging |
Het |
| Cdca7l |
A |
G |
12: 117,833,820 (GRCm39) |
E79G |
probably damaging |
Het |
| Chd4 |
C |
G |
6: 125,098,273 (GRCm39) |
P350A |
probably damaging |
Het |
| Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
| Cubn |
A |
T |
2: 13,483,013 (GRCm39) |
C244* |
probably null |
Het |
| Cyfip2 |
A |
G |
11: 46,133,205 (GRCm39) |
S832P |
probably damaging |
Het |
| Dnaaf1 |
A |
C |
8: 120,317,329 (GRCm39) |
E286A |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,323 (GRCm39) |
K188R |
probably benign |
Het |
| Fstl5 |
T |
C |
3: 76,052,284 (GRCm39) |
W5R |
possibly damaging |
Het |
| Gm5565 |
T |
A |
5: 146,096,947 (GRCm39) |
Y64F |
possibly damaging |
Het |
| Golga4 |
G |
A |
9: 118,335,626 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
C |
2: 31,347,760 (GRCm39) |
L4802P |
probably damaging |
Het |
| Hnrnpll |
C |
T |
17: 80,346,107 (GRCm39) |
V385I |
probably damaging |
Het |
| Lcn9 |
T |
C |
2: 25,714,067 (GRCm39) |
|
probably null |
Het |
| Map1a |
C |
A |
2: 121,132,466 (GRCm39) |
P856H |
probably damaging |
Het |
| Myo5b |
G |
C |
18: 74,848,003 (GRCm39) |
E1080D |
probably damaging |
Het |
| Naglu |
T |
C |
11: 100,960,976 (GRCm39) |
I9T |
probably benign |
Het |
| Ndst3 |
A |
T |
3: 123,465,888 (GRCm39) |
I28N |
probably damaging |
Het |
| Olfm4 |
A |
G |
14: 80,259,122 (GRCm39) |
N424D |
probably damaging |
Het |
| Or11g26 |
T |
A |
14: 50,753,495 (GRCm39) |
V278E |
probably damaging |
Het |
| Or4n5 |
A |
G |
14: 50,133,155 (GRCm39) |
Y35H |
probably damaging |
Het |
| Phf13 |
T |
C |
4: 152,076,680 (GRCm39) |
T171A |
probably damaging |
Het |
| Plk3 |
A |
G |
4: 116,986,317 (GRCm39) |
V605A |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,503,279 (GRCm39) |
M1185K |
probably benign |
Het |
| Pramel7 |
A |
T |
2: 87,320,320 (GRCm39) |
H324Q |
probably damaging |
Het |
| Prpf4b |
T |
A |
13: 35,067,573 (GRCm39) |
|
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,040,987 (GRCm39) |
T421I |
probably benign |
Het |
| Sertad2 |
C |
T |
11: 20,598,344 (GRCm39) |
T180I |
possibly damaging |
Het |
| Sgo2b |
C |
A |
8: 64,381,636 (GRCm39) |
A399S |
possibly damaging |
Het |
| Skint5 |
T |
C |
4: 113,434,841 (GRCm39) |
K1043E |
unknown |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| Spock3 |
T |
C |
8: 63,798,843 (GRCm39) |
F288S |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,676,816 (GRCm39) |
I393V |
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,178,214 (GRCm39) |
K429R |
possibly damaging |
Het |
| Vav1 |
T |
C |
17: 57,610,846 (GRCm39) |
F447L |
possibly damaging |
Het |
| Vmn2r19 |
T |
C |
6: 123,312,916 (GRCm39) |
M662T |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,829,104 (GRCm39) |
Y1152C |
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 |
|
|
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'- GCTGAATCTCCTCAAGGGTCTC -3'
(R):5'- AACCCCTGCTATTATCTCTAGTTAG -3'
Sequencing Primer
(F):5'- GAATCTCCTCAAGGGTCTCTTAAG -3'
(R):5'- CCAATGTCTCTATTTGATCAACAGAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation