Incidental Mutation 'R6249:Kctd17'
| ID |
505877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kctd17
|
| Ensembl Gene |
ENSMUSG00000033287 |
| Gene Name |
potassium channel tetramerisation domain containing 17 |
| Synonyms |
2900008M13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6249 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78312764-78323503 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to G
at 78314239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089414]
[ENSMUST00000089414]
[ENSMUST00000089414]
[ENSMUST00000159771]
[ENSMUST00000159771]
[ENSMUST00000159771]
[ENSMUST00000162321]
[ENSMUST00000162517]
[ENSMUST00000162517]
[ENSMUST00000162517]
[ENSMUST00000166142]
[ENSMUST00000166142]
[ENSMUST00000166142]
[ENSMUST00000229290]
[ENSMUST00000229290]
[ENSMUST00000229290]
[ENSMUST00000229622]
[ENSMUST00000229622]
[ENSMUST00000229622]
|
| AlphaFold |
E0CYQ0 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 |
probably null
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 |
probably null
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 |
probably null
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000162605
|
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000229290
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229290
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229290
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229622
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229622
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229622
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
A |
T |
7: 115,702,505 (GRCm39) |
S90C |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,036,453 (GRCm39) |
D552G |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,471,639 (GRCm39) |
L502P |
probably damaging |
Het |
| Agmo |
T |
C |
12: 37,293,837 (GRCm39) |
|
probably null |
Het |
| Ank3 |
A |
G |
10: 69,658,906 (GRCm39) |
|
probably null |
Het |
| Apol11b |
G |
T |
15: 77,519,537 (GRCm39) |
T181K |
probably benign |
Het |
| Arap2 |
G |
T |
5: 62,803,536 (GRCm39) |
H1244N |
probably damaging |
Het |
| Arid1b |
A |
T |
17: 5,329,636 (GRCm39) |
M838L |
possibly damaging |
Het |
| Aste1 |
G |
A |
9: 105,273,816 (GRCm39) |
V19I |
probably benign |
Het |
| B3gnt3 |
A |
T |
8: 72,145,306 (GRCm39) |
M354K |
probably damaging |
Het |
| Calcr |
A |
T |
6: 3,692,711 (GRCm39) |
M381K |
possibly damaging |
Het |
| Ccdc63 |
A |
C |
5: 122,263,062 (GRCm39) |
L160W |
probably benign |
Het |
| Cerkl |
A |
G |
2: 79,199,122 (GRCm39) |
L156P |
probably damaging |
Het |
| Csnk2a1-ps3 |
A |
G |
1: 156,352,800 (GRCm39) |
M334V |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Ddb1 |
C |
A |
19: 10,583,084 (GRCm39) |
Y5* |
probably null |
Het |
| Fignl2 |
T |
C |
15: 100,952,060 (GRCm39) |
E74G |
possibly damaging |
Het |
| Glb1l2 |
C |
T |
9: 26,676,850 (GRCm39) |
|
probably benign |
Het |
| Gm16503 |
A |
G |
4: 147,625,508 (GRCm39) |
M1V |
probably null |
Het |
| Gm2696 |
A |
C |
10: 77,630,646 (GRCm39) |
|
probably benign |
Het |
| Gm45844 |
A |
G |
7: 7,243,092 (GRCm39) |
S20P |
probably benign |
Het |
| Gm7579 |
C |
T |
7: 141,765,743 (GRCm39) |
P50S |
unknown |
Het |
| Idh1 |
A |
G |
1: 65,205,378 (GRCm39) |
S196P |
probably damaging |
Het |
| Il1rap |
T |
C |
16: 26,511,598 (GRCm39) |
V214A |
possibly damaging |
Het |
| Lama1 |
G |
T |
17: 68,105,599 (GRCm39) |
V2036L |
probably benign |
Het |
| Lars1 |
G |
T |
18: 42,390,271 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
T |
A |
4: 32,708,484 (GRCm39) |
V1670E |
possibly damaging |
Het |
| Mtmr7 |
A |
T |
8: 41,034,524 (GRCm39) |
I266N |
probably damaging |
Het |
| Ncapd3 |
GGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTG |
9: 26,999,349 (GRCm39) |
|
probably benign |
Het |
| Nckap5 |
T |
C |
1: 125,952,667 (GRCm39) |
E1295G |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 89,221,448 (GRCm39) |
V409D |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,566,910 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or2a5 |
G |
T |
6: 42,874,238 (GRCm39) |
L284F |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,384,725 (GRCm39) |
N303Y |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,818 (GRCm39) |
S140C |
possibly damaging |
Het |
| Or5h22 |
T |
C |
16: 58,894,795 (GRCm39) |
Y216C |
probably damaging |
Het |
| Or8b44 |
T |
G |
9: 38,410,880 (GRCm39) |
I305R |
unknown |
Het |
| Pcdha4 |
T |
A |
18: 37,086,729 (GRCm39) |
V304E |
probably damaging |
Het |
| Pde6c |
T |
C |
19: 38,147,008 (GRCm39) |
|
probably null |
Het |
| Pebp4 |
A |
T |
14: 70,297,099 (GRCm39) |
T213S |
possibly damaging |
Het |
| Phf2 |
C |
A |
13: 48,959,348 (GRCm39) |
R886L |
unknown |
Het |
| Pik3ca |
A |
T |
3: 32,515,712 (GRCm39) |
H795L |
probably damaging |
Het |
| Pisd |
G |
T |
5: 32,896,188 (GRCm39) |
T379N |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,446,196 (GRCm39) |
L732P |
probably damaging |
Het |
| Pskh1 |
A |
G |
8: 106,639,617 (GRCm39) |
D99G |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,429,071 (GRCm39) |
T497A |
probably benign |
Het |
| Rps24 |
C |
T |
14: 24,543,530 (GRCm39) |
T108M |
possibly damaging |
Het |
| Rtel1 |
C |
T |
2: 180,993,475 (GRCm39) |
R566C |
probably damaging |
Het |
| Scyl2 |
A |
G |
10: 89,493,719 (GRCm39) |
S350P |
possibly damaging |
Het |
| Slc38a7 |
G |
T |
8: 96,564,302 (GRCm39) |
|
probably null |
Het |
| Sox5 |
A |
G |
6: 143,779,009 (GRCm39) |
I674T |
probably benign |
Het |
| Spata31f1a |
A |
T |
4: 42,850,528 (GRCm39) |
W543R |
probably benign |
Het |
| Surf4 |
C |
A |
2: 26,816,899 (GRCm39) |
E39D |
probably damaging |
Het |
| Tas2r144 |
T |
A |
6: 42,192,291 (GRCm39) |
Y10* |
probably null |
Het |
| Thbs4 |
C |
T |
13: 92,911,215 (GRCm39) |
G323R |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,399,006 (GRCm38) |
Y542C |
probably damaging |
Het |
| Trim61 |
A |
G |
8: 65,467,108 (GRCm39) |
V51A |
probably benign |
Het |
| Tyrp1 |
T |
A |
4: 80,769,009 (GRCm39) |
I501N |
possibly damaging |
Het |
| U2surp |
C |
T |
9: 95,382,869 (GRCm39) |
D32N |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,864,383 (GRCm39) |
Y411C |
probably damaging |
Het |
| Vwa7 |
G |
A |
17: 35,242,365 (GRCm39) |
V490I |
probably benign |
Het |
| Xylt1 |
G |
T |
7: 117,266,528 (GRCm39) |
A849S |
probably benign |
Het |
| Ythdc1 |
T |
A |
5: 86,979,815 (GRCm39) |
N599K |
possibly damaging |
Het |
| Zbtb38 |
T |
A |
9: 96,568,045 (GRCm39) |
Y1013F |
probably damaging |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
| Zswim9 |
T |
C |
7: 12,994,903 (GRCm39) |
S418G |
probably damaging |
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 |
|
|
R5779:Kctd17
|
UTSW |
15 |
78,321,333 (GRCm39) |
unclassified |
probably benign |
|
|
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'- AATCCTCTGACTATGGGAGAAAG -3'
(R):5'- TTTTAGGCCTCCCCTGAAGG -3'
Sequencing Primer
(F):5'- TGATTGGCTCAAGGTCACAC -3'
(R):5'- GCTCCGGTAGGCTGTAGAGAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation