Incidental Mutation 'R6310:Kctd3'
| ID |
509518 |
| 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 |
044414-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R6310 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
188703292-188740038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 188704435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 779
(T779A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085678]
[ENSMUST00000192458]
[ENSMUST00000193143]
|
| AlphaFold |
Q8BFX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085678
AA Change: T779A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000082821
Gene: ENSMUSG00000026608
AA Change: T779A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
C |
G |
11: 100,373,046 (GRCm39) |
G856A |
possibly damaging |
Het |
| Adgrb3 |
T |
A |
1: 25,150,799 (GRCm39) |
M1145L |
probably benign |
Het |
| Akap13 |
A |
T |
7: 75,398,941 (GRCm39) |
H2673L |
probably damaging |
Het |
| Bmpr1b |
A |
G |
3: 141,570,297 (GRCm39) |
S131P |
probably damaging |
Het |
| Cep72 |
A |
C |
13: 74,201,144 (GRCm39) |
S175A |
possibly damaging |
Het |
| Chd2 |
C |
T |
7: 73,102,912 (GRCm39) |
E1358K |
probably damaging |
Het |
| Cmip |
T |
C |
8: 118,156,549 (GRCm39) |
I308T |
possibly damaging |
Het |
| Cps1 |
A |
T |
1: 67,182,140 (GRCm39) |
N118I |
probably benign |
Het |
| Cux1 |
C |
T |
5: 136,304,018 (GRCm39) |
G1265D |
probably benign |
Het |
| Ddx24 |
C |
A |
12: 103,390,166 (GRCm39) |
R275L |
probably damaging |
Het |
| Dhx58 |
T |
C |
11: 100,590,193 (GRCm39) |
S364G |
probably benign |
Het |
| Dis3l |
A |
C |
9: 64,229,857 (GRCm39) |
V274G |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,349,104 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,268,444 (GRCm39) |
H1272R |
probably damaging |
Het |
| Gjb3 |
A |
G |
4: 127,220,433 (GRCm39) |
V33A |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm9964 |
T |
C |
11: 79,187,476 (GRCm39) |
|
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,069,349 (GRCm39) |
I342T |
probably damaging |
Het |
| Hnf1b |
T |
A |
11: 83,795,737 (GRCm39) |
C527S |
probably damaging |
Het |
| Hoxd4 |
G |
T |
2: 74,558,734 (GRCm39) |
A186S |
possibly damaging |
Het |
| Ighv1-78 |
G |
A |
12: 115,832,584 (GRCm39) |
H54Y |
probably benign |
Het |
| Intu |
T |
A |
3: 40,655,721 (GRCm39) |
L936* |
probably null |
Het |
| Kcp |
G |
A |
6: 29,493,257 (GRCm39) |
R89W |
probably damaging |
Het |
| Muc16 |
G |
A |
9: 18,553,246 (GRCm39) |
P4349L |
probably benign |
Het |
| Nedd9 |
T |
C |
13: 41,471,928 (GRCm39) |
T178A |
probably benign |
Het |
| Nuak2 |
G |
T |
1: 132,257,699 (GRCm39) |
A204S |
probably damaging |
Het |
| Or51f1 |
T |
A |
7: 102,506,412 (GRCm39) |
I26F |
probably benign |
Het |
| Or6c214 |
T |
C |
10: 129,590,528 (GRCm39) |
R264G |
probably benign |
Het |
| Pcdhac2 |
C |
A |
18: 37,278,824 (GRCm39) |
Y601* |
probably null |
Het |
| Pla2g4a |
T |
A |
1: 149,717,977 (GRCm39) |
D624V |
possibly damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,938,796 (GRCm39) |
V1386A |
probably damaging |
Het |
| Plxnd1 |
T |
A |
6: 115,953,697 (GRCm39) |
L623F |
possibly damaging |
Het |
| Pms2 |
T |
A |
5: 143,860,401 (GRCm39) |
S71R |
probably benign |
Het |
| Prkg1 |
T |
C |
19: 30,546,651 (GRCm39) |
D683G |
probably damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,801,204 (GRCm39) |
Y45N |
probably damaging |
Het |
| Rfc4 |
T |
C |
16: 22,933,459 (GRCm39) |
I233M |
probably benign |
Het |
| Sema3a |
G |
A |
5: 13,606,986 (GRCm39) |
G274S |
probably damaging |
Het |
| Sesn1 |
T |
C |
10: 41,772,074 (GRCm39) |
L201P |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,066,947 (GRCm39) |
V2363I |
possibly damaging |
Het |
| Sh3glb1 |
A |
G |
3: 144,403,228 (GRCm39) |
S81P |
probably damaging |
Het |
| Sik3 |
A |
G |
9: 46,089,784 (GRCm39) |
S218G |
probably damaging |
Het |
| Slc12a2 |
C |
G |
18: 58,048,578 (GRCm39) |
F781L |
probably damaging |
Het |
| Slc12a6 |
A |
T |
2: 112,166,184 (GRCm39) |
I188F |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,222,139 (GRCm39) |
|
probably null |
Het |
| Slc35f4 |
A |
G |
14: 49,559,914 (GRCm39) |
C44R |
probably damaging |
Het |
| Sytl1 |
G |
A |
4: 132,988,309 (GRCm39) |
P16S |
probably benign |
Het |
| Taok3 |
C |
T |
5: 117,394,003 (GRCm39) |
T592M |
possibly damaging |
Het |
| Tgfb1i1 |
T |
C |
7: 127,852,009 (GRCm39) |
F303L |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,893,760 (GRCm39) |
S7G |
probably benign |
Het |
| Utp4 |
T |
C |
8: 107,645,253 (GRCm39) |
V550A |
probably benign |
Het |
| Vmn1r229 |
G |
A |
17: 21,034,976 (GRCm39) |
D74N |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,844,212 (GRCm39) |
D25G |
possibly damaging |
Het |
| Zfp646 |
T |
C |
7: 127,483,079 (GRCm39) |
V1752A |
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 |
|
|
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 |
|
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'- TGTAAAAGCCAATGTACTGAAACCC -3'
(R):5'- AGTGCGCTATGTCTGAGAGG -3'
Sequencing Primer
(F):5'- ACTCTTGGCCAGAGGAAT -3'
(R):5'- TATGTCTGAGAGGAGGTCCCC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation