Incidental Mutation 'R0843:Kctd3'
| ID |
77241 |
| 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 |
039022-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R0843 (G1)
|
| Quality Score |
113 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
188703292-188740038 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 188729170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 129
(L129*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085678]
[ENSMUST00000193143]
|
| AlphaFold |
Q8BFX3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000085678
AA Change: L129*
|
| SMART Domains |
Protein: ENSMUSP00000082821
Gene: ENSMUSG00000026608
AA Change: L129*
| 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 null
Transcript: ENSMUST00000193143
AA Change: L129*
|
| SMART Domains |
Protein: ENSMUSP00000141861
Gene: ENSMUSG00000026608
AA Change: L129*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 92.6%
|
| Validation Efficiency |
98% (40/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb2 |
T |
C |
18: 62,312,142 (GRCm39) |
R228G |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,038,922 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,846,828 (GRCm39) |
Y526C |
probably damaging |
Het |
| Cenpn |
T |
C |
8: 117,660,045 (GRCm39) |
V125A |
probably benign |
Het |
| Cyfip1 |
A |
T |
7: 55,572,568 (GRCm39) |
H963L |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 31,032,069 (GRCm39) |
Y4130H |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,922,886 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,631,647 (GRCm39) |
T4448M |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,709,272 (GRCm39) |
|
probably benign |
Het |
| Fgf11 |
T |
G |
11: 69,689,602 (GRCm39) |
|
probably benign |
Het |
| Gabrr1 |
T |
A |
4: 33,161,717 (GRCm39) |
I347N |
possibly damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Hspa1b |
T |
A |
17: 35,176,524 (GRCm39) |
N487I |
possibly damaging |
Het |
| Ifi207 |
A |
T |
1: 173,555,143 (GRCm39) |
N853K |
probably damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,015,738 (GRCm39) |
D40G |
possibly damaging |
Het |
| Iyd |
T |
C |
10: 3,495,663 (GRCm39) |
V107A |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,107,137 (GRCm39) |
F1286S |
possibly damaging |
Het |
| Or4a47 |
C |
T |
2: 89,665,960 (GRCm39) |
V110I |
probably benign |
Het |
| Or52s1b |
T |
A |
7: 102,822,326 (GRCm39) |
T173S |
possibly damaging |
Het |
| Or8c15 |
T |
A |
9: 38,120,579 (GRCm39) |
F77I |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,632,182 (GRCm39) |
Y328F |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,942,769 (GRCm39) |
L1810P |
probably benign |
Het |
| Polr2h |
T |
A |
16: 20,537,649 (GRCm39) |
V50E |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,364,895 (GRCm39) |
|
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,525,259 (GRCm39) |
R741S |
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,735,986 (GRCm39) |
E64G |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,609,471 (GRCm39) |
|
probably null |
Het |
| Rangap1 |
A |
T |
15: 81,594,703 (GRCm39) |
D375E |
probably benign |
Het |
| Rhbdf1 |
G |
A |
11: 32,165,053 (GRCm39) |
R107C |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,329,706 (GRCm39) |
E140G |
probably damaging |
Het |
| Slitrk6 |
G |
T |
14: 110,987,530 (GRCm39) |
H726N |
probably benign |
Het |
| Spry2 |
A |
G |
14: 106,130,524 (GRCm39) |
C221R |
probably damaging |
Het |
| Stx2 |
C |
T |
5: 129,076,612 (GRCm39) |
V24M |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,842 (GRCm39) |
S238P |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,116,902 (GRCm39) |
|
probably null |
Het |
| Ttyh3 |
C |
A |
5: 140,612,201 (GRCm39) |
|
probably null |
Het |
| Vmn2r116 |
T |
C |
17: 23,619,934 (GRCm39) |
V556A |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,533,576 (GRCm39) |
|
probably benign |
Het |
| Zc3h3 |
A |
G |
15: 75,709,328 (GRCm39) |
S514P |
probably benign |
Het |
| Zfp277 |
A |
C |
12: 40,370,599 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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'- CAAGGACCAGTGGTATACATGGCAG -3'
(R):5'- GGATTTCAGTGCTCAGTGCTTCACG -3'
Sequencing Primer
(F):5'- TCCCTGCCCTGACAGAGAAG -3'
(R):5'- TGCTTCACGCTGAGAAAGTC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation