Incidental Mutation 'R6543:Dclk1'
| ID |
520904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dclk1
|
| Ensembl Gene |
ENSMUSG00000027797 |
| Gene Name |
doublecortin-like kinase 1 |
| Synonyms |
CPG16, Click-I, Dcamkl1, Dcl, 1700113D08Rik, 2810480F11Rik, DCLK |
| MMRRC Submission |
044669-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.670)
|
| Stock # |
R6543 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
55149785-55446489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55407552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 244
(P244S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054237]
[ENSMUST00000070418]
[ENSMUST00000196745]
[ENSMUST00000198412]
[ENSMUST00000198437]
[ENSMUST00000199169]
[ENSMUST00000199702]
[ENSMUST00000200352]
|
| AlphaFold |
Q9JLM8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054237
AA Change: P567S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050034
Gene: ENSMUSG00000027797
AA Change: P567S
| Domain | Start | End | E-Value | Type |
|---|
|
DCX
|
52 |
143 |
1.53e-43 |
SMART |
|
DCX
|
181 |
269 |
2.53e-35 |
SMART |
|
low complexity region
|
297 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
364 |
N/A |
INTRINSIC |
|
S_TKc
|
406 |
663 |
1.71e-104 |
SMART |
|
low complexity region
|
736 |
747 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070418
AA Change: P244S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070292
Gene: ENSMUSG00000027797
AA Change: P244S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
S_TKc
|
83 |
340 |
1.71e-104 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196745
AA Change: P551S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143659
Gene: ENSMUSG00000027797
AA Change: P551S
| Domain | Start | End | E-Value | Type |
|---|
|
DCX
|
52 |
143 |
7.3e-46 |
SMART |
|
DCX
|
181 |
269 |
1.2e-37 |
SMART |
|
low complexity region
|
297 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
379 |
N/A |
INTRINSIC |
|
S_TKc
|
390 |
646 |
8.3e-107 |
SMART |
|
low complexity region
|
719 |
730 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198412
AA Change: P244S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142637
Gene: ENSMUSG00000027797
AA Change: P244S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
S_TKc
|
83 |
339 |
8.1e-107 |
SMART |
|
low complexity region
|
412 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198437
AA Change: P260S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143016
Gene: ENSMUSG00000027797
AA Change: P260S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
|
S_TKc
|
99 |
356 |
1.71e-104 |
SMART |
|
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199169
AA Change: P244S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143563
Gene: ENSMUSG00000027797
AA Change: P244S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
S_TKc
|
83 |
340 |
8.5e-107 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199702
AA Change: P243S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143507
Gene: ENSMUSG00000027797
AA Change: P243S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
|
S_TKc
|
82 |
339 |
8.5e-107 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200352
AA Change: P244S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142840
Gene: ENSMUSG00000027797
AA Change: P244S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
S_TKc
|
83 |
340 |
8.3e-107 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been found, but the biological validity of some variants has not been determined. These variants encode different isoforms, which are differentially expressed and have different kinase activities. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a null allele lack the corpus callosum and hippocampal commissure and show aberrant interhemispheric axonal projections. Mice homozygous for a different null allele have normal gross brain architecture but show axonal and dendritic defects following knockdown of Dcx expression. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted, knock-out(2) Gene trapped(3) |
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4e1 |
T |
C |
2: 126,908,525 (GRCm39) |
V1091A |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,640,715 (GRCm39) |
N1320D |
probably benign |
Het |
| Atl3 |
T |
A |
19: 7,487,463 (GRCm39) |
F126Y |
probably damaging |
Het |
| Borcs5 |
C |
T |
6: 134,687,143 (GRCm39) |
T167M |
probably damaging |
Het |
| Cplane2 |
T |
G |
4: 140,944,599 (GRCm39) |
V50G |
probably benign |
Het |
| Creld2 |
A |
G |
15: 88,709,481 (GRCm39) |
T331A |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 130,911,497 (GRCm39) |
V494A |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,220,825 (GRCm39) |
N126S |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,197,493 (GRCm39) |
S629P |
unknown |
Het |
| Grip1 |
T |
C |
10: 119,821,499 (GRCm39) |
L389P |
probably benign |
Het |
| Igkv4-91 |
A |
T |
6: 68,745,582 (GRCm39) |
D105E |
probably damaging |
Het |
| Il20ra |
G |
A |
10: 19,625,071 (GRCm39) |
A117T |
probably damaging |
Het |
| Il6ra |
A |
G |
3: 89,784,170 (GRCm39) |
V367A |
probably damaging |
Het |
| Itga8 |
C |
T |
2: 12,306,455 (GRCm39) |
V47M |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,300,682 (GRCm39) |
Y220C |
probably damaging |
Het |
| Lims1 |
T |
A |
10: 58,248,273 (GRCm39) |
C243* |
probably null |
Het |
| Man1a |
C |
A |
10: 53,811,077 (GRCm39) |
G435* |
probably null |
Het |
| Msantd5f4 |
A |
G |
4: 73,557,215 (GRCm39) |
E16G |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,630,053 (GRCm39) |
I2250N |
probably damaging |
Het |
| N4bp1 |
G |
A |
8: 87,588,534 (GRCm39) |
Q135* |
probably null |
Het |
| Nbeal2 |
A |
T |
9: 110,473,526 (GRCm39) |
D76E |
probably benign |
Het |
| Nbn |
T |
C |
4: 15,986,605 (GRCm39) |
S669P |
probably benign |
Het |
| Nfrkb |
C |
T |
9: 31,312,281 (GRCm39) |
Q456* |
probably null |
Het |
| Or6c3b |
C |
A |
10: 129,527,859 (GRCm39) |
G17V |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,715,275 (GRCm39) |
A1557T |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Prokr2 |
T |
A |
2: 132,215,819 (GRCm39) |
Q53L |
probably benign |
Het |
| Pxmp4 |
C |
A |
2: 154,429,979 (GRCm39) |
A137S |
possibly damaging |
Het |
| Rasef |
C |
T |
4: 73,698,756 (GRCm39) |
|
probably benign |
Het |
| Scpppq1 |
T |
C |
5: 104,222,741 (GRCm39) |
|
probably benign |
Het |
| Scrt2 |
C |
T |
2: 151,935,063 (GRCm39) |
A72V |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,177,101 (GRCm39) |
E1171G |
possibly damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,375 (GRCm39) |
T923A |
possibly damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,078,872 (GRCm39) |
K141R |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,849,492 (GRCm39) |
|
probably null |
Het |
| Sympk |
A |
T |
7: 18,770,755 (GRCm39) |
H282L |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,751,677 (GRCm39) |
Y1324C |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,577,600 (GRCm39) |
N170S |
possibly damaging |
Het |
| Trav6-3 |
T |
C |
14: 53,666,219 (GRCm39) |
M1T |
probably null |
Het |
| Trim66 |
A |
G |
7: 109,075,086 (GRCm39) |
S392P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,599,155 (GRCm39) |
T10958A |
probably damaging |
Het |
| Ubr7 |
A |
G |
12: 102,734,494 (GRCm39) |
K256R |
probably benign |
Het |
|
| Other mutations in Dclk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Dclk1
|
APN |
3 |
55,154,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02148:Dclk1
|
APN |
3 |
55,407,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02901:Dclk1
|
APN |
3 |
55,395,208 (GRCm39) |
splice site |
probably benign |
|
|
IGL03086:Dclk1
|
APN |
3 |
55,154,788 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03213:Dclk1
|
APN |
3 |
55,387,805 (GRCm39) |
nonsense |
probably null |
|
|
R0037:Dclk1
|
UTSW |
3 |
55,163,480 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0316:Dclk1
|
UTSW |
3 |
55,410,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0885:Dclk1
|
UTSW |
3 |
55,394,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1211:Dclk1
|
UTSW |
3 |
55,288,244 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1234:Dclk1
|
UTSW |
3 |
55,397,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Dclk1
|
UTSW |
3 |
55,385,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Dclk1
|
UTSW |
3 |
55,154,942 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2081:Dclk1
|
UTSW |
3 |
55,429,346 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2152:Dclk1
|
UTSW |
3 |
55,154,633 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2153:Dclk1
|
UTSW |
3 |
55,154,633 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2213:Dclk1
|
UTSW |
3 |
55,387,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3745:Dclk1
|
UTSW |
3 |
55,154,863 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3899:Dclk1
|
UTSW |
3 |
55,154,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4569:Dclk1
|
UTSW |
3 |
55,154,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4851:Dclk1
|
UTSW |
3 |
55,387,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4890:Dclk1
|
UTSW |
3 |
55,429,353 (GRCm39) |
missense |
probably benign |
|
|
R5105:Dclk1
|
UTSW |
3 |
55,163,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5175:Dclk1
|
UTSW |
3 |
55,154,648 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5364:Dclk1
|
UTSW |
3 |
55,163,366 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5613:Dclk1
|
UTSW |
3 |
55,424,360 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5819:Dclk1
|
UTSW |
3 |
55,397,285 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6113:Dclk1
|
UTSW |
3 |
55,397,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6162:Dclk1
|
UTSW |
3 |
55,163,575 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6190:Dclk1
|
UTSW |
3 |
55,395,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Dclk1
|
UTSW |
3 |
55,424,292 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6380:Dclk1
|
UTSW |
3 |
55,154,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6406:Dclk1
|
UTSW |
3 |
55,387,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6745:Dclk1
|
UTSW |
3 |
55,385,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6970:Dclk1
|
UTSW |
3 |
55,374,022 (GRCm39) |
intron |
probably benign |
|
|
R7037:Dclk1
|
UTSW |
3 |
55,370,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Dclk1
|
UTSW |
3 |
55,395,333 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7163:Dclk1
|
UTSW |
3 |
55,163,549 (GRCm39) |
nonsense |
probably null |
|
|
R7198:Dclk1
|
UTSW |
3 |
55,385,296 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7843:Dclk1
|
UTSW |
3 |
55,163,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8476:Dclk1
|
UTSW |
3 |
55,441,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Dclk1
|
UTSW |
3 |
55,409,840 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9060:Dclk1
|
UTSW |
3 |
55,163,575 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9332:Dclk1
|
UTSW |
3 |
55,370,500 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9377:Dclk1
|
UTSW |
3 |
55,429,374 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9384:Dclk1
|
UTSW |
3 |
55,154,936 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9569:Dclk1
|
UTSW |
3 |
55,387,852 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9616:Dclk1
|
UTSW |
3 |
55,387,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9770:Dclk1
|
UTSW |
3 |
55,358,492 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Dclk1
|
UTSW |
3 |
55,407,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dclk1
|
UTSW |
3 |
55,163,434 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTATACAAACCACCATGAAGCC -3'
(R):5'- CAGTCATTGGCATTGGGAAGAC -3'
Sequencing Primer
(F):5'- TAAATATGACCCCACATTCCCATTTC -3'
(R):5'- TCATTGGCATTGGGAAGACAAAGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation