Incidental Mutation 'R0619:Kctd3'
| ID |
58506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kctd3
|
| Ensembl Gene |
ENSMUSG00000026608 |
| Gene Name |
potassium channel tetramerisation domain containing 3 |
| Synonyms |
4930438A20Rik, E330032J19Rik, NY-REN-45 |
| MMRRC Submission |
038808-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R0619 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
188703292-188740038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 188710840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 441
(D441G)
|
| 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: D441G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082821
Gene: ENSMUSG00000026608
AA Change: D441G
| 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 |
possibly damaging
Transcript: ENSMUST00000193143
AA Change: D441G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141861
Gene: ENSMUSG00000026608
AA Change: D441G
| 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: ENSMUST00000193590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195488
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195658
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195787
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
G |
A |
8: 120,339,739 (GRCm39) |
D74N |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,127,679 (GRCm39) |
V573D |
possibly damaging |
Het |
| Ak7 |
A |
G |
12: 105,699,770 (GRCm39) |
K230E |
probably damaging |
Het |
| Amdhd2 |
T |
C |
17: 24,375,562 (GRCm39) |
D375G |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,490,757 (GRCm39) |
E253G |
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,661,725 (GRCm39) |
L158S |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,174,366 (GRCm39) |
T2057A |
probably benign |
Het |
| C2 |
G |
T |
17: 35,091,479 (GRCm39) |
H61Q |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,328,282 (GRCm39) |
K661E |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,269,556 (GRCm39) |
V655I |
probably damaging |
Het |
| Cep78 |
T |
C |
19: 15,956,226 (GRCm39) |
T238A |
probably damaging |
Het |
| Ces2a |
T |
A |
8: 105,462,742 (GRCm39) |
N110K |
probably benign |
Het |
| Crat |
T |
C |
2: 30,299,996 (GRCm39) |
D128G |
probably benign |
Het |
| Dclre1a |
A |
T |
19: 56,533,841 (GRCm39) |
M233K |
probably benign |
Het |
| Dsg4 |
T |
C |
18: 20,594,416 (GRCm39) |
V515A |
probably benign |
Het |
| Fer1l6 |
T |
C |
15: 58,534,784 (GRCm39) |
|
probably null |
Het |
| Fryl |
T |
C |
5: 73,226,074 (GRCm39) |
D1863G |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,774,484 (GRCm39) |
L57Q |
probably damaging |
Het |
| Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,647,388 (GRCm39) |
|
probably null |
Het |
| Kcnn3 |
A |
C |
3: 89,559,337 (GRCm39) |
T536P |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,829,293 (GRCm39) |
T528M |
probably benign |
Het |
| Kmt2c |
G |
A |
5: 25,503,914 (GRCm39) |
T3798I |
probably benign |
Het |
| Map1a |
T |
A |
2: 121,135,736 (GRCm39) |
M1946K |
probably damaging |
Het |
| Mfhas1 |
T |
A |
8: 36,057,829 (GRCm39) |
V768E |
probably benign |
Het |
| Mroh8 |
C |
A |
2: 157,107,001 (GRCm39) |
V223F |
possibly damaging |
Het |
| Mss51 |
A |
T |
14: 20,537,641 (GRCm39) |
V30E |
probably benign |
Het |
| Mtmr10 |
G |
A |
7: 63,970,961 (GRCm39) |
R392H |
probably benign |
Het |
| Mup3 |
T |
C |
4: 62,004,198 (GRCm39) |
N105S |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,453,642 (GRCm39) |
M22T |
probably benign |
Het |
| Or1o2 |
T |
A |
17: 37,543,046 (GRCm39) |
I72F |
possibly damaging |
Het |
| Or2aj5 |
T |
A |
16: 19,425,022 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or5m9 |
T |
A |
2: 85,877,655 (GRCm39) |
Y276* |
probably null |
Het |
| Os9 |
A |
G |
10: 126,956,860 (GRCm39) |
I43T |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,347,234 (GRCm39) |
L200P |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,548,198 (GRCm39) |
V100M |
possibly damaging |
Het |
| Rnf6 |
G |
A |
5: 146,147,531 (GRCm39) |
R496C |
possibly damaging |
Het |
| Rsad1 |
C |
T |
11: 94,433,465 (GRCm39) |
R407Q |
probably damaging |
Het |
| Rspo3 |
T |
C |
10: 29,380,633 (GRCm39) |
D127G |
probably damaging |
Het |
| Sbf2 |
T |
A |
7: 109,909,469 (GRCm39) |
T1760S |
possibly damaging |
Het |
| Sh2d3c |
T |
A |
2: 32,643,037 (GRCm39) |
V588E |
probably damaging |
Het |
| Siglech |
A |
T |
7: 55,418,910 (GRCm39) |
T238S |
probably benign |
Het |
| Slc15a2 |
T |
A |
16: 36,579,669 (GRCm39) |
N328I |
probably damaging |
Het |
| Slc16a11 |
G |
T |
11: 70,105,858 (GRCm39) |
G94C |
probably damaging |
Het |
| Stub1 |
T |
C |
17: 26,050,296 (GRCm39) |
|
probably null |
Het |
| Tacc2 |
T |
A |
7: 130,318,483 (GRCm39) |
V40D |
probably damaging |
Het |
| Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
| Trappc14 |
A |
G |
5: 138,262,088 (GRCm39) |
|
probably benign |
Het |
| Tsen54 |
A |
G |
11: 115,705,890 (GRCm39) |
E69G |
probably damaging |
Het |
| Tsks |
A |
G |
7: 44,600,258 (GRCm39) |
E150G |
probably damaging |
Het |
| Ubap2l |
A |
C |
3: 89,924,527 (GRCm39) |
V680G |
probably benign |
Het |
| Usp16 |
A |
T |
16: 87,269,052 (GRCm39) |
H315L |
probably benign |
Het |
| Vav2 |
A |
G |
2: 27,186,133 (GRCm39) |
|
probably null |
Het |
| Zfc3h1 |
T |
C |
10: 115,256,715 (GRCm39) |
F1562L |
possibly damaging |
Het |
| Zfp764 |
C |
A |
7: 127,005,713 (GRCm39) |
V22L |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGCTCTGGTCCTAGATTCCCAT -3'
(R):5'- acccCCTTCTCTCATGTTGGCTTA -3'
Sequencing Primer
(F):5'- TGGTCCTAGATTCCCATCTTTG -3'
(R):5'- gcacttggaggcagagac -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation