Incidental Mutation 'R5045:Dclk3'
| ID |
394338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dclk3
|
| Ensembl Gene |
ENSMUSG00000032500 |
| Gene Name |
doublecortin-like kinase 3 |
| Synonyms |
Dcamkl3, Click-I, -II related |
| MMRRC Submission |
042635-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R5045 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
111268149-111318186 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111296856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 133
(E133D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111879]
|
| AlphaFold |
Q8BWQ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111879
AA Change: E133D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107510
Gene: ENSMUSG00000032500
AA Change: E133D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
|
Pfam:DCX
|
115 |
177 |
2.9e-17 |
PFAM |
|
low complexity region
|
200 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
496 |
N/A |
INTRINSIC |
|
S_TKc
|
514 |
771 |
1.63e-110 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the protein kinase superfamily and the doublecortin family. Differently from the other two closely related family members (DCLK1 and DCLK2), the protein encoded by this gene contains only one N-terminal doublecortin domain and is unable to bind microtubules and to regulate microtubule polymerization. The protein contains a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmoduline-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1) |
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
C |
3: 36,530,327 (GRCm39) |
|
probably benign |
Het |
| 2210408I21Rik |
A |
G |
13: 77,415,927 (GRCm39) |
|
probably null |
Het |
| 4930519P11Rik |
A |
T |
2: 154,454,950 (GRCm39) |
C136* |
probably null |
Het |
| 4930519P11Rik |
G |
T |
2: 154,454,982 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,113,860 (GRCm39) |
H1189L |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,039,743 (GRCm39) |
I227V |
possibly damaging |
Het |
| Arhgap29 |
C |
A |
3: 121,796,244 (GRCm39) |
N445K |
probably benign |
Het |
| Atp13a3 |
T |
C |
16: 30,158,694 (GRCm39) |
H811R |
probably benign |
Het |
| Cd2ap |
T |
C |
17: 43,118,851 (GRCm39) |
N529S |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 110,026,080 (GRCm39) |
S439T |
probably benign |
Het |
| Ces3a |
G |
T |
8: 105,777,248 (GRCm39) |
|
probably null |
Het |
| Cftr |
T |
A |
6: 18,230,080 (GRCm39) |
N408K |
probably benign |
Het |
| Chil5 |
T |
C |
3: 105,931,456 (GRCm39) |
N136S |
possibly damaging |
Het |
| Col20a1 |
A |
G |
2: 180,648,638 (GRCm39) |
D933G |
probably damaging |
Het |
| Crh |
A |
T |
3: 19,748,153 (GRCm39) |
L163* |
probably null |
Het |
| Ctps1 |
A |
C |
4: 120,410,075 (GRCm39) |
|
probably null |
Het |
| Cyb5d2 |
A |
G |
11: 72,686,401 (GRCm39) |
V63A |
probably damaging |
Het |
| Cyp2d11 |
T |
A |
15: 82,275,272 (GRCm39) |
|
probably null |
Het |
| Dhrs9 |
A |
G |
2: 69,223,339 (GRCm39) |
D29G |
probably benign |
Het |
| Disp2 |
G |
A |
2: 118,622,543 (GRCm39) |
E1092K |
probably benign |
Het |
| Enpp3 |
A |
G |
10: 24,652,665 (GRCm39) |
I764T |
probably damaging |
Het |
| Epm2aip1 |
C |
A |
9: 111,102,427 (GRCm39) |
R467S |
possibly damaging |
Het |
| Fam20a |
T |
C |
11: 109,568,711 (GRCm39) |
I272V |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,950,680 (GRCm39) |
Y358C |
probably damaging |
Het |
| Gm11596 |
A |
T |
11: 99,683,695 (GRCm39) |
S142T |
unknown |
Het |
| Golga4 |
A |
G |
9: 118,394,724 (GRCm39) |
T9A |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,299,093 (GRCm39) |
P2813L |
probably damaging |
Het |
| Ighv1-9 |
C |
T |
12: 114,547,440 (GRCm39) |
G34R |
probably damaging |
Het |
| Kalrn |
A |
C |
16: 34,134,722 (GRCm39) |
Y353* |
probably null |
Het |
| Klrk1 |
T |
C |
6: 129,594,466 (GRCm39) |
Y42C |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Mbtd1 |
T |
C |
11: 93,822,641 (GRCm39) |
Y484H |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,309,633 (GRCm39) |
R273G |
possibly damaging |
Het |
| Myh11 |
A |
T |
16: 14,057,391 (GRCm39) |
L308* |
probably null |
Het |
| Nacc2 |
G |
A |
2: 25,980,150 (GRCm39) |
|
probably null |
Het |
| Nadsyn1 |
A |
G |
7: 143,360,706 (GRCm39) |
L354P |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,110,172 (GRCm39) |
Q354L |
probably benign |
Het |
| Or10ag58 |
A |
T |
2: 87,265,490 (GRCm39) |
I220L |
probably damaging |
Het |
| Or52r1c |
G |
A |
7: 102,735,664 (GRCm39) |
G308E |
probably benign |
Het |
| Phactr3 |
T |
C |
2: 177,973,412 (GRCm39) |
I470T |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,349,787 (GRCm39) |
P211S |
unknown |
Het |
| Potefam1 |
T |
A |
2: 111,023,804 (GRCm39) |
Q110L |
unknown |
Het |
| Prickle2 |
T |
C |
6: 92,353,375 (GRCm39) |
D753G |
probably damaging |
Het |
| Prr12 |
A |
G |
7: 44,699,318 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,166,477 (GRCm39) |
E917G |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,697,268 (GRCm39) |
K551* |
probably null |
Het |
| Stag3 |
T |
C |
5: 138,302,740 (GRCm39) |
L1033P |
probably damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,570,618 (GRCm39) |
Q378L |
possibly damaging |
Het |
| Tdpoz8 |
G |
T |
3: 92,981,524 (GRCm39) |
D181Y |
probably damaging |
Het |
| Tespa1 |
A |
T |
10: 130,197,904 (GRCm39) |
K309* |
probably null |
Het |
| Trim69 |
A |
G |
2: 122,004,727 (GRCm39) |
T275A |
probably benign |
Het |
| Txndc17 |
T |
C |
11: 72,098,537 (GRCm39) |
Y30H |
probably damaging |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,751 (GRCm39) |
F72L |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,496 (GRCm39) |
D305E |
possibly damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,273,597 (GRCm39) |
I804V |
probably benign |
Het |
| Zfy2 |
T |
C |
Y: 2,107,159 (GRCm39) |
K492E |
possibly damaging |
Het |
| Zkscan1 |
A |
G |
5: 138,099,182 (GRCm39) |
H375R |
probably damaging |
Het |
|
| Other mutations in Dclk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02027:Dclk3
|
APN |
9 |
111,296,911 (GRCm39) |
nonsense |
probably null |
|
|
IGL02125:Dclk3
|
APN |
9 |
111,298,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02547:Dclk3
|
APN |
9 |
111,298,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03393:Dclk3
|
APN |
9 |
111,317,741 (GRCm39) |
utr 3 prime |
probably benign |
|
|
G1citation:Dclk3
|
UTSW |
9 |
111,268,405 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02984:Dclk3
|
UTSW |
9 |
111,317,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Dclk3
|
UTSW |
9 |
111,296,738 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0109:Dclk3
|
UTSW |
9 |
111,296,738 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0238:Dclk3
|
UTSW |
9 |
111,311,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0238:Dclk3
|
UTSW |
9 |
111,311,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0432:Dclk3
|
UTSW |
9 |
111,314,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Dclk3
|
UTSW |
9 |
111,298,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0530:Dclk3
|
UTSW |
9 |
111,311,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Dclk3
|
UTSW |
9 |
111,298,138 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1443:Dclk3
|
UTSW |
9 |
111,298,088 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1474:Dclk3
|
UTSW |
9 |
111,298,304 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1479:Dclk3
|
UTSW |
9 |
111,297,614 (GRCm39) |
missense |
probably benign |
|
|
R1482:Dclk3
|
UTSW |
9 |
111,296,888 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1543:Dclk3
|
UTSW |
9 |
111,297,122 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1552:Dclk3
|
UTSW |
9 |
111,317,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1559:Dclk3
|
UTSW |
9 |
111,298,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2011:Dclk3
|
UTSW |
9 |
111,297,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2369:Dclk3
|
UTSW |
9 |
111,317,610 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4111:Dclk3
|
UTSW |
9 |
111,298,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4510:Dclk3
|
UTSW |
9 |
111,297,060 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4511:Dclk3
|
UTSW |
9 |
111,297,060 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4592:Dclk3
|
UTSW |
9 |
111,296,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Dclk3
|
UTSW |
9 |
111,298,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Dclk3
|
UTSW |
9 |
111,297,716 (GRCm39) |
missense |
probably benign |
|
|
R4932:Dclk3
|
UTSW |
9 |
111,297,110 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5233:Dclk3
|
UTSW |
9 |
111,297,749 (GRCm39) |
missense |
probably benign |
|
|
R5338:Dclk3
|
UTSW |
9 |
111,298,127 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5463:Dclk3
|
UTSW |
9 |
111,298,328 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6822:Dclk3
|
UTSW |
9 |
111,268,405 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6995:Dclk3
|
UTSW |
9 |
111,296,768 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7187:Dclk3
|
UTSW |
9 |
111,314,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7532:Dclk3
|
UTSW |
9 |
111,296,596 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7534:Dclk3
|
UTSW |
9 |
111,297,286 (GRCm39) |
missense |
probably benign |
|
|
R7734:Dclk3
|
UTSW |
9 |
111,298,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8326:Dclk3
|
UTSW |
9 |
111,296,602 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8372:Dclk3
|
UTSW |
9 |
111,314,081 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8388:Dclk3
|
UTSW |
9 |
111,311,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8423:Dclk3
|
UTSW |
9 |
111,297,787 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8493:Dclk3
|
UTSW |
9 |
111,297,215 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9013:Dclk3
|
UTSW |
9 |
111,297,566 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9114:Dclk3
|
UTSW |
9 |
111,317,683 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9338:Dclk3
|
UTSW |
9 |
111,268,373 (GRCm39) |
missense |
unknown |
|
|
R9412:Dclk3
|
UTSW |
9 |
111,311,819 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9701:Dclk3
|
UTSW |
9 |
111,298,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Dclk3
|
UTSW |
9 |
111,298,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9802:Dclk3
|
UTSW |
9 |
111,298,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Dclk3
|
UTSW |
9 |
111,314,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCTGAGAGAAAGCTGCCAG -3'
(R):5'- TAGGATACAGCTCCTCCATGG -3'
Sequencing Primer
(F):5'- AGGACCTCTGGAGAAGCC -3'
(R):5'- GGCCAACTGGATACTCTTCAATG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation