Incidental Mutation 'IGL00232:Kctd15'
| ID |
306826 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kctd15
|
| Ensembl Gene |
ENSMUSG00000030499 |
| Gene Name |
potassium channel tetramerisation domain containing 15 |
| Synonyms |
MGC25497 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00232
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
34338439-34356157 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 34350170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032709]
[ENSMUST00000108069]
[ENSMUST00000108070]
[ENSMUST00000206501]
|
| AlphaFold |
Q8K0E1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032709
|
| SMART Domains |
Protein: ENSMUSP00000032709
Gene: ENSMUSG00000030499
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
56 |
158 |
8.5e-10 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108069
|
| SMART Domains |
Protein: ENSMUSP00000103704
Gene: ENSMUSG00000030499
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
56 |
158 |
8.5e-10 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108070
|
| SMART Domains |
Protein: ENSMUSP00000103705
Gene: ENSMUSG00000030499
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
56 |
158 |
8.5e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127425
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205419
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205843
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
A |
15: 81,950,581 (GRCm39) |
Q1493K |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,487,050 (GRCm39) |
|
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,387,787 (GRCm39) |
|
probably null |
Het |
| Asz1 |
T |
G |
6: 18,055,541 (GRCm39) |
|
probably null |
Het |
| Atp6v0a4 |
G |
A |
6: 38,069,725 (GRCm39) |
R56* |
probably null |
Het |
| Bend6 |
T |
C |
1: 33,922,619 (GRCm39) |
D8G |
possibly damaging |
Het |
| Ccdc171 |
T |
A |
4: 83,600,561 (GRCm39) |
C870* |
probably null |
Het |
| Cd163 |
A |
G |
6: 124,306,060 (GRCm39) |
|
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,118,325 (GRCm39) |
S1098P |
probably damaging |
Het |
| Col6a5 |
T |
G |
9: 105,759,882 (GRCm39) |
D1946A |
probably damaging |
Het |
| Gm6576 |
T |
A |
15: 27,025,884 (GRCm39) |
|
noncoding transcript |
Het |
| Gypa |
T |
G |
8: 81,231,408 (GRCm39) |
|
probably benign |
Het |
| Ighv9-3 |
T |
C |
12: 114,104,691 (GRCm39) |
|
probably benign |
Het |
| Itgb1 |
T |
G |
8: 129,440,399 (GRCm39) |
|
probably benign |
Het |
| Krtap13 |
A |
C |
16: 88,548,423 (GRCm39) |
S22A |
possibly damaging |
Het |
| Masp1 |
C |
T |
16: 23,276,841 (GRCm39) |
E555K |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,862,136 (GRCm39) |
S360T |
probably damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mfsd13a |
A |
G |
19: 46,354,958 (GRCm39) |
Y45C |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,125,568 (GRCm39) |
D3662G |
possibly damaging |
Het |
| Nkx6-1 |
T |
C |
5: 101,807,371 (GRCm39) |
D337G |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,211,251 (GRCm39) |
|
probably null |
Het |
| Palb2 |
T |
C |
7: 121,720,287 (GRCm39) |
H468R |
probably damaging |
Het |
| Plscr1l1 |
C |
T |
9: 92,233,005 (GRCm39) |
R43* |
probably null |
Het |
| Rai1 |
T |
G |
11: 60,076,217 (GRCm39) |
Y94D |
probably damaging |
Het |
| Slc27a3 |
A |
T |
3: 90,292,748 (GRCm39) |
Y605* |
probably null |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,670,951 (GRCm39) |
E677G |
possibly damaging |
Het |
| Tstd2 |
A |
T |
4: 46,120,002 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,494,701 (GRCm39) |
I412T |
probably damaging |
Het |
|
| Other mutations in Kctd15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0646:Kctd15
|
UTSW |
7 |
34,344,306 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1598:Kctd15
|
UTSW |
7 |
34,341,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Kctd15
|
UTSW |
7 |
34,344,366 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5193:Kctd15
|
UTSW |
7 |
34,344,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5628:Kctd15
|
UTSW |
7 |
34,339,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6046:Kctd15
|
UTSW |
7 |
34,349,547 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6252:Kctd15
|
UTSW |
7 |
34,341,348 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8260:Kctd15
|
UTSW |
7 |
34,344,267 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8917:Kctd15
|
UTSW |
7 |
34,341,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Kctd15
|
UTSW |
7 |
34,341,483 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2015-04-16 |
Incidental Mutation