Incidental Mutation 'R5779:Kctd17'
ID |
446896 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kctd17
|
Ensembl Gene |
ENSMUSG00000033287 |
Gene Name |
potassium channel tetramerisation domain containing 17 |
Synonyms |
2900008M13Rik |
MMRRC Submission |
043377-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5779 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
78312764-78323503 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 78321333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155401
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017086]
[ENSMUST00000089414]
[ENSMUST00000159771]
[ENSMUST00000162321]
[ENSMUST00000230226]
[ENSMUST00000162517]
[ENSMUST00000166142]
[ENSMUST00000229290]
[ENSMUST00000229622]
[ENSMUST00000230020]
|
AlphaFold |
E0CYQ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017086
|
SMART Domains |
Protein: ENSMUSP00000017086 Gene: ENSMUSG00000016942
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
Pfam:SEA
|
88 |
191 |
3.2e-13 |
PFAM |
CUB
|
341 |
452 |
3.82e-2 |
SMART |
LDLa
|
457 |
489 |
1.33e-2 |
SMART |
LDLa
|
490 |
527 |
2.31e-9 |
SMART |
LDLa
|
530 |
568 |
1.07e-4 |
SMART |
Tryp_SPc
|
576 |
806 |
3.75e-97 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089414
|
SMART Domains |
Protein: ENSMUSP00000086835 Gene: ENSMUSG00000033287
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
30 |
N/A |
INTRINSIC |
BTB
|
31 |
132 |
1.76e-16 |
SMART |
coiled coil region
|
208 |
244 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159771
|
SMART Domains |
Protein: ENSMUSP00000125574 Gene: ENSMUSG00000033287
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
23 |
N/A |
INTRINSIC |
BTB
|
24 |
125 |
1.76e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160916
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161016
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162321
|
SMART Domains |
Protein: ENSMUSP00000125680 Gene: ENSMUSG00000033287
Domain | Start | End | E-Value | Type |
BTB
|
3 |
86 |
9.93e-2 |
SMART |
low complexity region
|
168 |
195 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162605
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230226
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162517
|
SMART Domains |
Protein: ENSMUSP00000124290 Gene: ENSMUSG00000033287
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
30 |
N/A |
INTRINSIC |
BTB
|
31 |
132 |
1.76e-16 |
SMART |
low complexity region
|
227 |
235 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166142
|
SMART Domains |
Protein: ENSMUSP00000133210 Gene: ENSMUSG00000033287
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
30 |
N/A |
INTRINSIC |
BTB
|
31 |
132 |
1.76e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162808
|
SMART Domains |
Protein: ENSMUSP00000125421 Gene: ENSMUSG00000033287
Domain | Start | End | E-Value | Type |
SCOP:d3kvt__
|
2 |
36 |
3e-8 |
SMART |
Blast:BTB
|
2 |
98 |
6e-30 |
BLAST |
PDB:3DRY|E
|
2 |
127 |
4e-69 |
PDB |
low complexity region
|
130 |
157 |
N/A |
INTRINSIC |
low complexity region
|
160 |
187 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229290
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229622
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230020
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
88% (52/59) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,075,496 (GRCm39) |
M1332V |
probably benign |
Het |
Acsbg3 |
A |
T |
17: 57,188,061 (GRCm39) |
N190Y |
probably benign |
Het |
Afg3l2 |
T |
C |
18: 67,573,513 (GRCm39) |
K132R |
probably null |
Het |
Antkmt |
A |
G |
17: 26,009,631 (GRCm39) |
V194A |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,117,418 (GRCm39) |
D886G |
probably damaging |
Het |
B3gntl1 |
G |
T |
11: 121,542,502 (GRCm39) |
|
probably null |
Het |
Cdk12 |
T |
A |
11: 98,109,900 (GRCm39) |
S640R |
probably benign |
Het |
Ceacam12 |
C |
A |
7: 17,803,079 (GRCm39) |
P162T |
probably benign |
Het |
Chrna5 |
C |
A |
9: 54,905,388 (GRCm39) |
H67N |
probably benign |
Het |
Copb1 |
T |
A |
7: 113,818,807 (GRCm39) |
D837V |
probably damaging |
Het |
Dcaf5 |
C |
T |
12: 80,385,606 (GRCm39) |
R840H |
probably benign |
Het |
Ect2l |
T |
A |
10: 18,039,186 (GRCm39) |
Q324L |
probably benign |
Het |
Eef1e1 |
T |
C |
13: 38,830,249 (GRCm39) |
N141S |
probably damaging |
Het |
Eif2ak4 |
A |
C |
2: 118,243,444 (GRCm39) |
N208T |
possibly damaging |
Het |
Ext1 |
A |
G |
15: 53,207,949 (GRCm39) |
Y271H |
probably damaging |
Het |
Fbxo5 |
G |
A |
10: 5,750,303 (GRCm39) |
R323C |
possibly damaging |
Het |
Fpr-rs3 |
C |
A |
17: 20,844,488 (GRCm39) |
A218S |
possibly damaging |
Het |
Gm20499 |
G |
A |
5: 114,955,082 (GRCm39) |
|
probably benign |
Het |
Gm57859 |
A |
G |
11: 113,578,818 (GRCm39) |
D71G |
probably benign |
Het |
Gucy1b2 |
C |
A |
14: 62,651,750 (GRCm39) |
L400F |
possibly damaging |
Het |
Hgd |
T |
A |
16: 37,413,733 (GRCm39) |
L24H |
probably benign |
Het |
Hmx3 |
C |
A |
7: 131,146,057 (GRCm39) |
S255* |
probably null |
Het |
Ifrd1 |
A |
T |
12: 40,253,369 (GRCm39) |
F448I |
probably damaging |
Het |
Igfn1 |
T |
A |
1: 135,894,578 (GRCm39) |
E1996V |
probably benign |
Het |
Itpr1 |
G |
A |
6: 108,329,104 (GRCm39) |
G173R |
probably damaging |
Het |
Kbtbd8 |
T |
C |
6: 95,095,515 (GRCm39) |
S26P |
probably benign |
Het |
Matr3 |
T |
C |
18: 35,717,575 (GRCm39) |
S258P |
possibly damaging |
Het |
Mpp4 |
G |
A |
1: 59,190,825 (GRCm39) |
A90V |
probably benign |
Het |
Mrpl20 |
G |
A |
4: 155,891,378 (GRCm39) |
R34Q |
probably damaging |
Het |
Neb |
A |
T |
2: 52,135,313 (GRCm39) |
S3266T |
probably damaging |
Het |
Nipal3 |
A |
G |
4: 135,179,650 (GRCm39) |
|
probably benign |
Het |
Npas2 |
A |
T |
1: 39,326,652 (GRCm39) |
T46S |
possibly damaging |
Het |
Nsd3 |
G |
T |
8: 26,172,685 (GRCm39) |
E815* |
probably null |
Het |
Nup98 |
C |
A |
7: 101,801,568 (GRCm39) |
V786L |
probably benign |
Het |
Or4k2 |
A |
T |
14: 50,424,203 (GRCm39) |
M157K |
possibly damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,434,520 (GRCm39) |
V162A |
probably benign |
Het |
Pcgf2 |
G |
A |
11: 97,581,117 (GRCm39) |
P58L |
probably damaging |
Het |
Penk |
A |
G |
4: 4,134,318 (GRCm39) |
F110L |
probably damaging |
Het |
Relch |
T |
G |
1: 105,615,072 (GRCm39) |
N246K |
probably damaging |
Het |
Scfd1 |
A |
G |
12: 51,478,312 (GRCm39) |
N508S |
probably benign |
Het |
Scn2a |
T |
C |
2: 65,594,827 (GRCm39) |
V1892A |
probably benign |
Het |
Sema6a |
G |
A |
18: 47,381,893 (GRCm39) |
R885C |
probably damaging |
Het |
Sik2 |
T |
C |
9: 50,807,145 (GRCm39) |
H755R |
probably benign |
Het |
Slc36a3 |
A |
T |
11: 55,026,094 (GRCm39) |
Y241* |
probably null |
Het |
Smg5 |
T |
C |
3: 88,258,925 (GRCm39) |
|
probably benign |
Het |
Spag9 |
A |
G |
11: 94,005,079 (GRCm39) |
T1049A |
probably benign |
Het |
Tas2r103 |
T |
C |
6: 133,013,908 (GRCm39) |
M53V |
probably benign |
Het |
Tpr |
C |
T |
1: 150,299,292 (GRCm39) |
A1090V |
probably damaging |
Het |
Traf5 |
T |
A |
1: 191,729,633 (GRCm39) |
R473W |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,175,707 (GRCm39) |
|
probably null |
Het |
Vit |
A |
G |
17: 78,853,855 (GRCm39) |
T34A |
probably benign |
Het |
|
Other mutations in Kctd17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02079:Kctd17
|
APN |
15 |
78,314,356 (GRCm39) |
splice site |
probably benign |
|
IGL02209:Kctd17
|
APN |
15 |
78,319,792 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03132:Kctd17
|
APN |
15 |
78,319,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R4676:Kctd17
|
UTSW |
15 |
78,319,959 (GRCm39) |
unclassified |
probably benign |
|
R4793:Kctd17
|
UTSW |
15 |
78,317,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R5428:Kctd17
|
UTSW |
15 |
78,312,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R5590:Kctd17
|
UTSW |
15 |
78,321,502 (GRCm39) |
unclassified |
probably benign |
|
R6249:Kctd17
|
UTSW |
15 |
78,314,239 (GRCm39) |
splice site |
probably null |
|
R6911:Kctd17
|
UTSW |
15 |
78,318,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R7266:Kctd17
|
UTSW |
15 |
78,317,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R7324:Kctd17
|
UTSW |
15 |
78,319,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R7706:Kctd17
|
UTSW |
15 |
78,321,113 (GRCm39) |
unclassified |
probably benign |
|
R7707:Kctd17
|
UTSW |
15 |
78,321,113 (GRCm39) |
unclassified |
probably benign |
|
R7967:Kctd17
|
UTSW |
15 |
78,321,113 (GRCm39) |
unclassified |
probably benign |
|
R7968:Kctd17
|
UTSW |
15 |
78,321,113 (GRCm39) |
unclassified |
probably benign |
|
R7970:Kctd17
|
UTSW |
15 |
78,321,113 (GRCm39) |
unclassified |
probably benign |
|
R7972:Kctd17
|
UTSW |
15 |
78,321,113 (GRCm39) |
unclassified |
probably benign |
|
R7973:Kctd17
|
UTSW |
15 |
78,321,113 (GRCm39) |
unclassified |
probably benign |
|
R8097:Kctd17
|
UTSW |
15 |
78,321,113 (GRCm39) |
unclassified |
probably benign |
|
R8098:Kctd17
|
UTSW |
15 |
78,321,113 (GRCm39) |
unclassified |
probably benign |
|
R8099:Kctd17
|
UTSW |
15 |
78,321,113 (GRCm39) |
unclassified |
probably benign |
|
R8100:Kctd17
|
UTSW |
15 |
78,321,113 (GRCm39) |
unclassified |
probably benign |
|
R8333:Kctd17
|
UTSW |
15 |
78,321,113 (GRCm39) |
unclassified |
probably benign |
|
R9025:Kctd17
|
UTSW |
15 |
78,314,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACCCACCAACTGCTTTG -3'
(R):5'- CAGGATGCTTGGGGATGCAG -3'
Sequencing Primer
(F):5'- TCAGTCCTGAGGTCGGG -3'
(R):5'- ACTGGGACTAGGGCAGC -3'
|
Posted On |
2016-12-15 |