Incidental Mutation 'IGL00757:Kctd3'
ID |
11588 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kctd3
|
Ensembl Gene |
ENSMUSG00000026608 |
Gene Name |
potassium channel tetramerisation domain containing 3 |
Synonyms |
4930438A20Rik, E330032J19Rik, NY-REN-45 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
IGL00757
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
188703292-188740038 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 188704393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 793
(S793P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085678]
[ENSMUST00000192458]
[ENSMUST00000193143]
|
AlphaFold |
Q8BFX3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085678
AA Change: S793P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082821 Gene: ENSMUSG00000026608 AA Change: S793P
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
BTB
|
18 |
118 |
1.74e-15 |
SMART |
Blast:WD40
|
184 |
263 |
5e-50 |
BLAST |
WD40
|
269 |
305 |
1.32e2 |
SMART |
WD40
|
411 |
449 |
7.43e-1 |
SMART |
WD40
|
519 |
569 |
2.66e0 |
SMART |
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
low complexity region
|
774 |
801 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192200
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192458
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193143
|
SMART Domains |
Protein: ENSMUSP00000141861 Gene: ENSMUSG00000026608
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
BTB
|
18 |
118 |
1.1e-17 |
SMART |
Blast:WD40
|
184 |
263 |
3e-49 |
BLAST |
WD40
|
269 |
305 |
8.1e-1 |
SMART |
WD40
|
411 |
449 |
4.7e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195488
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195745
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In mouse, this protein interacts with hyperpolarization-activated cyclic nucleotide-gated channel complex 3 and enhances its cell surface expression and current density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
|
Allele List at MGI |
All alleles(18) : Gene trapped(18) |
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg1 |
A |
C |
9: 54,530,003 (GRCm39) |
I231R |
possibly damaging |
Het |
Ahctf1 |
G |
A |
1: 179,596,696 (GRCm39) |
P94S |
probably damaging |
Het |
Cldn34b3 |
T |
C |
X: 75,310,978 (GRCm39) |
I182T |
possibly damaging |
Het |
Cps1 |
T |
A |
1: 67,191,539 (GRCm39) |
|
probably benign |
Het |
Cwf19l2 |
G |
T |
9: 3,460,054 (GRCm39) |
A781S |
probably damaging |
Het |
Cyp4v3 |
T |
C |
8: 45,773,652 (GRCm39) |
I172M |
probably damaging |
Het |
Fcgbpl1 |
T |
G |
7: 27,853,870 (GRCm39) |
C1611W |
probably damaging |
Het |
Gmnc |
T |
G |
16: 26,782,689 (GRCm39) |
D22A |
probably damaging |
Het |
Gpr89 |
T |
A |
3: 96,778,850 (GRCm39) |
T408S |
probably benign |
Het |
Grk2 |
A |
G |
19: 4,339,339 (GRCm39) |
|
probably null |
Het |
Lhx1 |
A |
G |
11: 84,410,478 (GRCm39) |
F373S |
probably damaging |
Het |
Mgl2 |
A |
T |
11: 70,025,976 (GRCm39) |
I71F |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,234,302 (GRCm39) |
I91N |
possibly damaging |
Het |
Otog |
T |
A |
7: 45,939,552 (GRCm39) |
D2110E |
probably damaging |
Het |
Pde9a |
A |
G |
17: 31,662,146 (GRCm39) |
E90G |
probably benign |
Het |
Plaat5 |
G |
T |
19: 7,591,924 (GRCm39) |
E113D |
possibly damaging |
Het |
Prdm10 |
T |
C |
9: 31,229,842 (GRCm39) |
V86A |
possibly damaging |
Het |
R3hdm1 |
T |
G |
1: 128,164,176 (GRCm39) |
I1030R |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,633,490 (GRCm39) |
|
probably null |
Het |
Serpina1f |
A |
G |
12: 103,659,721 (GRCm39) |
I187T |
probably damaging |
Het |
Slc22a16 |
C |
T |
10: 40,457,323 (GRCm39) |
T188M |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,901,440 (GRCm39) |
H1500R |
probably benign |
Het |
Sptlc2 |
C |
T |
12: 87,415,842 (GRCm39) |
E62K |
probably damaging |
Het |
Tgfbr1 |
T |
A |
4: 47,405,581 (GRCm39) |
S326T |
probably damaging |
Het |
Tgif1 |
A |
G |
17: 71,153,235 (GRCm39) |
Y39H |
probably damaging |
Het |
|
Other mutations in Kctd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00766:Kctd3
|
APN |
1 |
188,727,973 (GRCm39) |
missense |
probably benign |
0.29 |
IGL01393:Kctd3
|
APN |
1 |
188,732,487 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01874:Kctd3
|
APN |
1 |
188,729,188 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01966:Kctd3
|
APN |
1 |
188,724,859 (GRCm39) |
missense |
probably damaging |
1.00 |
3-1:Kctd3
|
UTSW |
1 |
188,704,454 (GRCm39) |
nonsense |
probably null |
|
R0026:Kctd3
|
UTSW |
1 |
188,708,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R0142:Kctd3
|
UTSW |
1 |
188,728,595 (GRCm39) |
critical splice donor site |
probably null |
|
R0619:Kctd3
|
UTSW |
1 |
188,710,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R0621:Kctd3
|
UTSW |
1 |
188,713,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R0733:Kctd3
|
UTSW |
1 |
188,729,247 (GRCm39) |
splice site |
probably benign |
|
R0843:Kctd3
|
UTSW |
1 |
188,729,170 (GRCm39) |
nonsense |
probably null |
|
R2393:Kctd3
|
UTSW |
1 |
188,713,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R4004:Kctd3
|
UTSW |
1 |
188,724,940 (GRCm39) |
missense |
probably benign |
0.06 |
R4005:Kctd3
|
UTSW |
1 |
188,734,124 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4091:Kctd3
|
UTSW |
1 |
188,727,917 (GRCm39) |
intron |
probably benign |
|
R4784:Kctd3
|
UTSW |
1 |
188,706,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R5062:Kctd3
|
UTSW |
1 |
188,727,890 (GRCm39) |
intron |
probably benign |
|
R5488:Kctd3
|
UTSW |
1 |
188,713,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R6013:Kctd3
|
UTSW |
1 |
188,728,665 (GRCm39) |
missense |
probably benign |
0.00 |
R6310:Kctd3
|
UTSW |
1 |
188,704,435 (GRCm39) |
missense |
probably benign |
0.00 |
R6478:Kctd3
|
UTSW |
1 |
188,704,561 (GRCm39) |
missense |
probably benign |
|
R6703:Kctd3
|
UTSW |
1 |
188,728,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R7882:Kctd3
|
UTSW |
1 |
188,715,243 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8368:Kctd3
|
UTSW |
1 |
188,704,404 (GRCm39) |
missense |
probably benign |
0.32 |
R9189:Kctd3
|
UTSW |
1 |
188,704,636 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9352:Kctd3
|
UTSW |
1 |
188,704,777 (GRCm39) |
missense |
probably damaging |
0.97 |
R9759:Kctd3
|
UTSW |
1 |
188,710,786 (GRCm39) |
missense |
probably damaging |
1.00 |
X0019:Kctd3
|
UTSW |
1 |
188,704,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |