Incidental Mutation 'IGL03276:Kctd8'
| ID |
415429 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kctd8
|
| Ensembl Gene |
ENSMUSG00000037653 |
| Gene Name |
potassium channel tetramerisation domain containing 8 |
| Synonyms |
A730087N02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL03276
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
69266628-69499022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69497929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 239
(M239K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054095]
[ENSMUST00000087231]
|
| AlphaFold |
Q50H33 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054095
AA Change: M239K
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000055326
Gene: ENSMUSG00000037653
AA Change: M239K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
41 |
N/A |
INTRINSIC |
|
BTB
|
44 |
154 |
1.46e-8 |
SMART |
|
low complexity region
|
172 |
204 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087231
AA Change: M239K
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000084484
Gene: ENSMUSG00000037653
AA Change: M239K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
41 |
N/A |
INTRINSIC |
|
BTB
|
44 |
154 |
1.46e-8 |
SMART |
|
low complexity region
|
172 |
204 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175388
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef25 |
A |
C |
10: 127,021,794 (GRCm39) |
F202V |
possibly damaging |
Het |
| Atrnl1 |
A |
T |
19: 57,641,359 (GRCm39) |
N336Y |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,789,268 (GRCm39) |
D381G |
possibly damaging |
Het |
| Cabin1 |
A |
T |
10: 75,568,247 (GRCm39) |
L912Q |
probably damaging |
Het |
| Fam83e |
A |
G |
7: 45,372,884 (GRCm39) |
D165G |
possibly damaging |
Het |
| Foxn1 |
T |
A |
11: 78,261,950 (GRCm39) |
T140S |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,416,331 (GRCm39) |
|
probably benign |
Het |
| Kdm4d |
A |
T |
9: 14,375,838 (GRCm39) |
C7S |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,379,669 (GRCm39) |
|
probably benign |
Het |
| Klrb1b |
T |
C |
6: 128,792,168 (GRCm39) |
N191S |
probably benign |
Het |
| Krt35 |
C |
T |
11: 99,983,953 (GRCm39) |
S349N |
probably benign |
Het |
| Krt75 |
A |
T |
15: 101,476,811 (GRCm39) |
D359E |
probably damaging |
Het |
| Lipo5 |
T |
C |
19: 33,445,242 (GRCm39) |
D109G |
unknown |
Het |
| Lsm12 |
T |
G |
11: 102,073,770 (GRCm39) |
I58L |
probably benign |
Het |
| Mxd4 |
T |
C |
5: 34,335,088 (GRCm39) |
D99G |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,163,615 (GRCm39) |
N927K |
probably damaging |
Het |
| Olfm2 |
A |
G |
9: 20,580,083 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,457,980 (GRCm39) |
V4103A |
possibly damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,507,260 (GRCm39) |
|
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,707,065 (GRCm39) |
T242A |
possibly damaging |
Het |
| Srp19 |
A |
C |
18: 34,464,843 (GRCm39) |
T28P |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,963,603 (GRCm39) |
V943I |
possibly damaging |
Het |
| Tgfb3 |
T |
C |
12: 86,104,642 (GRCm39) |
E384G |
probably damaging |
Het |
| Tmem39a |
T |
A |
16: 38,405,646 (GRCm39) |
N74K |
probably benign |
Het |
| Tnfrsf11a |
A |
G |
1: 105,749,215 (GRCm39) |
Y211C |
probably damaging |
Het |
|
| Other mutations in Kctd8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01935:Kctd8
|
APN |
5 |
69,497,707 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02212:Kctd8
|
APN |
5 |
69,498,031 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0206:Kctd8
|
UTSW |
5 |
69,498,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0349:Kctd8
|
UTSW |
5 |
69,498,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Kctd8
|
UTSW |
5 |
69,497,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Kctd8
|
UTSW |
5 |
69,498,319 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1820:Kctd8
|
UTSW |
5 |
69,497,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2199:Kctd8
|
UTSW |
5 |
69,498,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2237:Kctd8
|
UTSW |
5 |
69,267,752 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2513:Kctd8
|
UTSW |
5 |
69,267,988 (GRCm39) |
missense |
probably benign |
|
|
R3949:Kctd8
|
UTSW |
5 |
69,498,617 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4418:Kctd8
|
UTSW |
5 |
69,498,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4722:Kctd8
|
UTSW |
5 |
69,498,544 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4765:Kctd8
|
UTSW |
5 |
69,498,191 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5009:Kctd8
|
UTSW |
5 |
69,268,076 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5818:Kctd8
|
UTSW |
5 |
69,454,054 (GRCm39) |
missense |
probably benign |
|
|
R5821:Kctd8
|
UTSW |
5 |
69,267,828 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6857:Kctd8
|
UTSW |
5 |
69,454,045 (GRCm39) |
missense |
probably benign |
|
|
R8272:Kctd8
|
UTSW |
5 |
69,267,803 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8419:Kctd8
|
UTSW |
5 |
69,497,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF001:Kctd8
|
UTSW |
5 |
69,267,775 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Posted On |
2016-08-02 |
Incidental Mutation