Incidental Mutation 'IGL01966:Kctd3'
| ID |
181525 |
| 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 # |
IGL01966
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
188703292-188740038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 188724859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 241
(G241R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085678]
[ENSMUST00000193143]
|
| AlphaFold |
Q8BFX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085678
AA Change: G241R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082821
Gene: ENSMUSG00000026608
AA Change: G241R
| 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 |
possibly damaging
Transcript: ENSMUST00000193143
AA Change: G241R
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141861
Gene: ENSMUSG00000026608
AA Change: G241R
| 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: ENSMUST00000193273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195787
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
A |
G |
4: 155,818,526 (GRCm39) |
|
probably null |
Het |
| Acer2 |
T |
A |
4: 86,835,815 (GRCm39) |
*230R |
probably null |
Het |
| Adamts12 |
A |
G |
15: 11,258,269 (GRCm39) |
K527E |
probably damaging |
Het |
| Anks1b |
C |
A |
10: 90,730,994 (GRCm39) |
R937S |
probably damaging |
Het |
| C2cd5 |
G |
T |
6: 142,957,767 (GRCm39) |
C989* |
probably null |
Het |
| Calhm5 |
T |
C |
10: 33,972,129 (GRCm39) |
H102R |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,312,121 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,201,917 (GRCm39) |
T522S |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,142,016 (GRCm39) |
|
probably benign |
Het |
| Elmod1 |
T |
A |
9: 53,828,611 (GRCm39) |
I224F |
probably benign |
Het |
| Emx2 |
T |
A |
19: 59,448,021 (GRCm39) |
I24N |
possibly damaging |
Het |
| Fga |
A |
T |
3: 82,936,461 (GRCm39) |
I86F |
probably damaging |
Het |
| Fig4 |
C |
A |
10: 41,108,098 (GRCm39) |
|
probably null |
Het |
| Gm10234 |
T |
C |
6: 95,299,118 (GRCm39) |
|
probably null |
Het |
| Gm12588 |
A |
T |
11: 121,797,561 (GRCm39) |
I96N |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,561,486 (GRCm39) |
I788T |
probably damaging |
Het |
| Homer3 |
A |
G |
8: 70,742,807 (GRCm39) |
K173E |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,777,227 (GRCm39) |
V635A |
probably damaging |
Het |
| Krt8 |
G |
T |
15: 101,906,105 (GRCm39) |
S423R |
probably benign |
Het |
| Lrrc24 |
C |
A |
15: 76,602,511 (GRCm39) |
A125S |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,570,244 (GRCm39) |
S435P |
possibly damaging |
Het |
| Nfkb2 |
G |
A |
19: 46,298,129 (GRCm39) |
G502D |
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,505,103 (GRCm39) |
C750Y |
probably damaging |
Het |
| Or8b1b |
A |
T |
9: 38,376,225 (GRCm39) |
D296V |
possibly damaging |
Het |
| Oxsm |
T |
C |
14: 16,242,520 (GRCm38) |
N83S |
probably benign |
Het |
| Paqr3 |
A |
G |
5: 97,247,502 (GRCm39) |
L202P |
probably benign |
Het |
| Pcdh10 |
T |
A |
3: 45,334,733 (GRCm39) |
L349Q |
probably benign |
Het |
| Ptdss2 |
A |
G |
7: 140,715,304 (GRCm39) |
T29A |
possibly damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,782 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,272,789 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
A |
T |
19: 29,572,963 (GRCm39) |
Y801F |
probably benign |
Het |
| Sgcz |
A |
T |
8: 38,107,169 (GRCm39) |
S114R |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,202,757 (GRCm39) |
D124G |
probably damaging |
Het |
| Zscan22 |
T |
G |
7: 12,640,398 (GRCm39) |
M214R |
probably benign |
Het |
|
| Other mutations in Kctd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00757:Kctd3
|
APN |
1 |
188,704,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation