Incidental Mutation 'R7972:Kctd17'
| ID |
650679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kctd17
|
| Ensembl Gene |
ENSMUSG00000033287 |
| Gene Name |
potassium channel tetramerisation domain containing 17 |
| Synonyms |
2900008M13Rik |
| MMRRC Submission |
046015-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7972 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
78312764-78323503 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
CAGCTGGAGGAGC to CAGC
at 78321113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017086]
[ENSMUST00000089414]
[ENSMUST00000159771]
[ENSMUST00000162321]
[ENSMUST00000162517]
[ENSMUST00000166142]
[ENSMUST00000229290]
[ENSMUST00000229622]
[ENSMUST00000230020]
[ENSMUST00000230226]
|
| 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 |
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 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: 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: 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: ENSMUST00000229290
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229622
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230020
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230226
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (48/49) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,320,287 (GRCm39) |
V384E |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,364,918 (GRCm39) |
R1533* |
probably null |
Het |
| Alox12 |
T |
A |
11: 70,133,513 (GRCm39) |
M604L |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Brdt |
A |
T |
5: 107,496,415 (GRCm39) |
I176F |
possibly damaging |
Het |
| Cdk5 |
G |
T |
5: 24,624,656 (GRCm39) |
T245K |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,732,395 (GRCm39) |
R1304S |
unknown |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,185,871 (GRCm39) |
E438V |
probably damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,803,949 (GRCm39) |
V92A |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fam184a |
A |
T |
10: 53,514,355 (GRCm39) |
L1022Q |
probably damaging |
Het |
| Foxd4 |
T |
C |
19: 24,877,594 (GRCm39) |
H202R |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,233,861 (GRCm39) |
V16A |
probably benign |
Het |
| Gstcd |
A |
T |
3: 132,777,894 (GRCm39) |
F306I |
probably benign |
Het |
| H2bc13 |
A |
G |
13: 21,899,977 (GRCm39) |
S113P |
possibly damaging |
Het |
| Hivep3 |
T |
C |
4: 119,954,711 (GRCm39) |
V1009A |
possibly damaging |
Het |
| Hoxd12 |
G |
T |
2: 74,506,269 (GRCm39) |
R227L |
probably damaging |
Het |
| Ifi208 |
T |
A |
1: 173,506,556 (GRCm39) |
M113K |
possibly damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,810,802 (GRCm39) |
M427K |
probably damaging |
Het |
| Kcnh4 |
T |
G |
11: 100,643,278 (GRCm39) |
T330P |
probably damaging |
Het |
| Lin28a |
G |
A |
4: 133,733,574 (GRCm39) |
P158S |
probably damaging |
Het |
| Muc16 |
C |
A |
9: 18,557,060 (GRCm39) |
E3078* |
probably null |
Het |
| Naaladl1 |
A |
G |
19: 6,156,274 (GRCm39) |
N120S |
probably damaging |
Het |
| Nol10 |
G |
A |
12: 17,402,648 (GRCm39) |
R40H |
probably benign |
Het |
| Ntng1 |
G |
A |
3: 110,042,802 (GRCm39) |
S8L |
probably benign |
Het |
| Or4a71 |
T |
G |
2: 89,357,948 (GRCm39) |
I269L |
probably benign |
Het |
| Or4c107 |
T |
A |
2: 88,789,177 (GRCm39) |
Y122* |
probably null |
Het |
| Pacsin1 |
T |
A |
17: 27,927,613 (GRCm39) |
F319I |
unknown |
Het |
| Pla2g4d |
G |
A |
2: 120,109,413 (GRCm39) |
T212I |
probably benign |
Het |
| Ppp4r1 |
T |
A |
17: 66,140,093 (GRCm39) |
C664S |
possibly damaging |
Het |
| Prodh2 |
T |
C |
7: 30,210,580 (GRCm39) |
I377T |
probably damaging |
Het |
| Prss57 |
A |
T |
10: 79,619,230 (GRCm39) |
L243H |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Ros1 |
G |
A |
10: 52,030,926 (GRCm39) |
R581* |
probably null |
Het |
| Rps6kc1 |
C |
T |
1: 190,531,321 (GRCm39) |
G894S |
probably benign |
Het |
| Sirt7 |
A |
G |
11: 120,510,016 (GRCm39) |
S183P |
unknown |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Styxl2 |
T |
A |
1: 165,926,708 (GRCm39) |
E968V |
probably damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,431,250 (GRCm39) |
F374S |
probably damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,837,134 (GRCm39) |
D489E |
probably damaging |
Het |
| Tiprl |
T |
A |
1: 165,064,543 (GRCm39) |
|
probably benign |
Het |
| Tpt1 |
T |
C |
14: 76,085,539 (GRCm39) |
*173Q |
probably null |
Het |
| Trim17 |
A |
G |
11: 58,859,394 (GRCm39) |
I203V |
probably benign |
Het |
| Trim43b |
T |
A |
9: 88,973,361 (GRCm39) |
H124L |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,852,186 (GRCm39) |
I780T |
probably damaging |
Het |
| Tyrobp |
G |
A |
7: 30,114,063 (GRCm39) |
G101R |
|
Het |
| Vmn1r181 |
A |
T |
7: 23,683,871 (GRCm39) |
H112L |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,381,193 (GRCm39) |
N406D |
probably damaging |
Het |
| Zc3h12a |
T |
C |
4: 125,013,728 (GRCm39) |
K379E |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,799,323 (GRCm39) |
I230T |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,477,533 (GRCm39) |
T3383A |
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 |
|
|
R5779:Kctd17
|
UTSW |
15 |
78,321,333 (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 |
|
|
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'- TAGCGGGATCCTGAGATGAC -3'
Sequencing Primer
(F):5'- AGAGGTCCCTTTCATCCTG -3'
(R):5'- TGAGCTAACCCTGGTGGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation