Incidental Mutation 'IGL01874:Kctd3'
| ID |
178835 |
| 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: 0.236)
|
| Stock # |
IGL01874
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
188703292-188740038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 188729188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 123
(V123A)
|
| 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: V123A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082821
Gene: ENSMUSG00000026608
AA Change: V123A
| 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 |
probably damaging
Transcript: ENSMUST00000193143
AA Change: V123A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141861
Gene: ENSMUSG00000026608
AA Change: V123A
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
A |
T |
13: 70,916,823 (GRCm39) |
V723D |
possibly damaging |
Het |
| Adgrb1 |
G |
A |
15: 74,413,423 (GRCm39) |
V536I |
possibly damaging |
Het |
| Aox4 |
T |
C |
1: 58,291,243 (GRCm39) |
L787S |
probably damaging |
Het |
| Atp2c1 |
A |
C |
9: 105,326,024 (GRCm39) |
V293G |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,920,001 (GRCm39) |
D170G |
probably damaging |
Het |
| Cdc42 |
T |
C |
4: 137,063,381 (GRCm39) |
I4V |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,741,729 (GRCm39) |
Q1175R |
possibly damaging |
Het |
| Cox6a1 |
A |
G |
5: 115,483,904 (GRCm39) |
*113Q |
probably null |
Het |
| Crtc2 |
C |
T |
3: 90,165,815 (GRCm39) |
P139L |
probably damaging |
Het |
| Cyp8b1 |
A |
T |
9: 121,744,969 (GRCm39) |
M121K |
possibly damaging |
Het |
| D630003M21Rik |
C |
A |
2: 158,046,644 (GRCm39) |
G778C |
probably damaging |
Het |
| Dgat1 |
A |
G |
15: 76,387,241 (GRCm39) |
F349L |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,816,602 (GRCm39) |
Y194C |
probably damaging |
Het |
| Fam120b |
T |
A |
17: 15,623,301 (GRCm39) |
C426* |
probably null |
Het |
| Fxyd3 |
A |
G |
7: 30,770,318 (GRCm39) |
|
probably benign |
Het |
| Gin1 |
A |
G |
1: 97,710,797 (GRCm39) |
Y160C |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm11110 |
T |
A |
17: 57,399,693 (GRCm39) |
|
probably benign |
Het |
| Gm1818 |
T |
C |
12: 48,602,973 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1a2 |
T |
C |
9: 3,797,343 (GRCm39) |
S598P |
probably damaging |
Het |
| Hook3 |
T |
A |
8: 26,529,760 (GRCm39) |
N199Y |
possibly damaging |
Het |
| Il10ra |
A |
G |
9: 45,178,458 (GRCm39) |
L41P |
probably damaging |
Het |
| Itgam |
C |
T |
7: 127,714,338 (GRCm39) |
T949I |
probably damaging |
Het |
| Krt84 |
G |
A |
15: 101,436,239 (GRCm39) |
A450V |
probably damaging |
Het |
| Lrrc7 |
G |
A |
3: 157,946,080 (GRCm39) |
|
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,355,980 (GRCm39) |
F608L |
probably damaging |
Het |
| Niban2 |
A |
T |
2: 32,795,779 (GRCm39) |
|
probably null |
Het |
| Nmbr |
A |
T |
10: 14,642,696 (GRCm39) |
Y85F |
probably benign |
Het |
| Nol6 |
A |
C |
4: 41,115,412 (GRCm39) |
L1135R |
probably damaging |
Het |
| Ntan1 |
T |
C |
16: 13,653,077 (GRCm39) |
F278L |
probably benign |
Het |
| Or2n1e |
T |
A |
17: 38,586,408 (GRCm39) |
S249T |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,573,041 (GRCm39) |
T474S |
probably damaging |
Het |
| Pex11b |
T |
A |
3: 96,550,883 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
G |
T |
1: 20,173,459 (GRCm39) |
A3786E |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,552,858 (GRCm39) |
I2098T |
possibly damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,365,362 (GRCm39) |
S169R |
probably benign |
Het |
| Ptbp2 |
A |
G |
3: 119,541,449 (GRCm39) |
V196A |
probably damaging |
Het |
| Rad17 |
T |
C |
13: 100,754,192 (GRCm39) |
|
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,060,185 (GRCm39) |
N114D |
probably benign |
Het |
| Slc47a2 |
T |
A |
11: 61,203,685 (GRCm39) |
|
probably null |
Het |
| Srcin1 |
A |
T |
11: 97,423,924 (GRCm39) |
M684K |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,429,124 (GRCm39) |
C298S |
probably damaging |
Het |
| Tenm3 |
G |
T |
8: 48,689,793 (GRCm39) |
Y1915* |
probably null |
Het |
| Tnks1bp1 |
A |
G |
2: 84,888,791 (GRCm39) |
T373A |
probably benign |
Het |
| Trp63 |
A |
C |
16: 25,701,335 (GRCm39) |
N470H |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,628,907 (GRCm39) |
N12703S |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,120,600 (GRCm39) |
|
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,449,602 (GRCm39) |
Y212F |
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 |
|
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 |
2014-05-07 |
Incidental Mutation