Incidental Mutation 'IGL03213:Dclk1'
ID413361
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dclk1
Ensembl Gene ENSMUSG00000027797
Gene Namedoublecortin-like kinase 1
Synonyms2810480F11Rik, Dcamkl1, CPG16, Click-I, Dcl, DCLK, 1700113D08Rik
Accession Numbers

Genbank: NM_019978; MGI: 1330861

Is this an essential gene? Possibly essential (E-score: 0.649) question?
Stock #IGL03213
Quality Score
Status
Chromosome3
Chromosomal Location55242364-55539068 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 55480384 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 84 (K84*)
Ref Sequence ENSEMBL: ENSMUSP00000142840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054237] [ENSMUST00000070418] [ENSMUST00000196745] [ENSMUST00000198412] [ENSMUST00000198437] [ENSMUST00000199169] [ENSMUST00000199702] [ENSMUST00000200352]
Predicted Effect probably null
Transcript: ENSMUST00000054237
AA Change: K407*
SMART Domains Protein: ENSMUSP00000050034
Gene: ENSMUSG00000027797
AA Change: K407*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000070418
AA Change: K84*
SMART Domains Protein: ENSMUSP00000070292
Gene: ENSMUSG00000027797
AA Change: K84*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000196745
AA Change: K391*
SMART Domains Protein: ENSMUSP00000143659
Gene: ENSMUSG00000027797
AA Change: K391*

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000197870
Predicted Effect probably null
Transcript: ENSMUST00000198412
AA Change: K84*
SMART Domains Protein: ENSMUSP00000142637
Gene: ENSMUSG00000027797
AA Change: K84*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000198437
AA Change: K100*
SMART Domains Protein: ENSMUSP00000143016
Gene: ENSMUSG00000027797
AA Change: K100*

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000198757
Predicted Effect probably null
Transcript: ENSMUST00000199169
AA Change: K84*
SMART Domains Protein: ENSMUSP00000143563
Gene: ENSMUSG00000027797
AA Change: K84*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000199702
AA Change: K83*
SMART Domains Protein: ENSMUSP00000143507
Gene: ENSMUSG00000027797
AA Change: K83*

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000200221
Predicted Effect probably null
Transcript: ENSMUST00000200352
AA Change: K84*
SMART Domains Protein: ENSMUSP00000142840
Gene: ENSMUSG00000027797
AA Change: K84*

DomainStartEndE-ValueType
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
Validation Efficiency
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 A T 2: 22,941,959 D447E probably damaging Het
Aldh8a1 T C 10: 21,384,717 V175A probably damaging Het
Arap2 T A 5: 62,749,095 T194S probably benign Het
Arih2 T C 9: 108,607,347 T422A probably damaging Het
Arl5b T A 2: 15,069,865 N52K probably damaging Het
Atg13 G A 2: 91,685,167 H227Y probably damaging Het
Ccdc178 T C 18: 22,120,691 T164A possibly damaging Het
Cep192 T C 18: 67,865,637 V2074A probably damaging Het
Ces2c T C 8: 104,848,040 I43T probably benign Het
Chrm3 G A 13: 9,878,184 T272I probably benign Het
Cln8 A G 8: 14,894,845 Y53C probably damaging Het
Cwc27 T A 13: 104,796,403 probably benign Het
Cyp3a13 A T 5: 137,894,267 probably benign Het
Dchs1 G T 7: 105,755,072 N2754K probably damaging Het
Ednra T C 8: 77,720,219 T77A probably benign Het
Epn2 T C 11: 61,519,684 N553D probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gm10784 T A 13: 49,945,274 noncoding transcript Het
Gm11492 G T 11: 87,567,358 probably null Het
Gm9047 G A 6: 29,471,793 M89I probably damaging Het
Gtf2e2 T C 8: 33,752,497 F76L probably damaging Het
Hnrnpll A T 17: 80,034,098 V504E probably damaging Het
Ifitm2 A G 7: 140,955,764 V51A possibly damaging Het
Il16 C T 7: 83,646,500 E456K probably damaging Het
Lmod2 A T 6: 24,603,616 I197F possibly damaging Het
Lrrc14 T C 15: 76,713,783 S238P possibly damaging Het
Map3k1 A G 13: 111,748,892 probably benign Het
Phf11d C A 14: 59,349,348 R210S probably benign Het
Pigu T C 2: 155,335,371 N103S probably damaging Het
Rgsl1 A G 1: 153,825,841 V289A probably benign Het
Rp1l1 T A 14: 64,028,415 S483R probably damaging Het
Ryr2 A T 13: 11,724,387 probably benign Het
Sema3c T G 5: 17,694,639 probably benign Het
Sfmbt2 A G 2: 10,404,574 Y110C probably damaging Het
Slc12a3 T C 8: 94,335,305 V328A possibly damaging Het
Smarca2 G A 19: 26,623,975 G31D probably damaging Het
Svs1 A G 6: 48,988,345 D429G possibly damaging Het
Tenm2 T G 11: 36,023,330 E2460A probably benign Het
Trim58 T A 11: 58,651,167 W318R probably benign Het
Ube3a C T 7: 59,286,122 Q585* probably null Het
Vmn2r17 T C 5: 109,434,390 probably null Het
Zfp647 A G 15: 76,911,977 V161A possibly damaging Het
Other mutations in Dclk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Dclk1 APN 3 55247286 missense probably damaging 1.00
IGL02148:Dclk1 APN 3 55500099 missense probably damaging 1.00
IGL02901:Dclk1 APN 3 55487787 splice site probably benign
IGL03086:Dclk1 APN 3 55247367 missense probably damaging 0.96
R0037:Dclk1 UTSW 3 55256059 missense probably benign 0.02
R0316:Dclk1 UTSW 3 55502892 missense probably damaging 1.00
R0885:Dclk1 UTSW 3 55487307 missense probably damaging 1.00
R1211:Dclk1 UTSW 3 55380823 missense probably benign 0.05
R1234:Dclk1 UTSW 3 55489877 missense probably damaging 1.00
R1540:Dclk1 UTSW 3 55477823 missense probably damaging 1.00
R1928:Dclk1 UTSW 3 55247521 missense possibly damaging 0.48
R2081:Dclk1 UTSW 3 55521925 critical splice donor site probably null
R2152:Dclk1 UTSW 3 55247212 missense probably damaging 0.97
R2153:Dclk1 UTSW 3 55247212 missense probably damaging 0.97
R2213:Dclk1 UTSW 3 55480433 missense probably damaging 1.00
R3745:Dclk1 UTSW 3 55247442 missense possibly damaging 0.87
R3899:Dclk1 UTSW 3 55247329 missense probably damaging 0.99
R4569:Dclk1 UTSW 3 55247410 missense probably damaging 1.00
R4851:Dclk1 UTSW 3 55480390 missense probably damaging 1.00
R4890:Dclk1 UTSW 3 55521932 missense probably benign
R5105:Dclk1 UTSW 3 55255939 missense probably benign 0.00
R5175:Dclk1 UTSW 3 55247227 missense possibly damaging 0.80
R5364:Dclk1 UTSW 3 55255945 missense possibly damaging 0.95
R5613:Dclk1 UTSW 3 55516939 missense probably benign 0.15
R5819:Dclk1 UTSW 3 55489864 missense probably damaging 0.98
R6113:Dclk1 UTSW 3 55489819 missense probably benign 0.00
R6162:Dclk1 UTSW 3 55256154 missense probably benign 0.02
R6190:Dclk1 UTSW 3 55487811 missense probably damaging 1.00
R6193:Dclk1 UTSW 3 55516871 critical splice acceptor site probably null
R6380:Dclk1 UTSW 3 55247194 missense probably damaging 1.00
R6406:Dclk1 UTSW 3 55480406 missense probably damaging 1.00
R6543:Dclk1 UTSW 3 55500131 missense probably damaging 1.00
R6745:Dclk1 UTSW 3 55477808 missense probably damaging 1.00
R6970:Dclk1 UTSW 3 55466601 intron probably benign
R7037:Dclk1 UTSW 3 55463048 missense probably damaging 1.00
R7086:Dclk1 UTSW 3 55487912 critical splice donor site probably null
R7163:Dclk1 UTSW 3 55256128 nonsense probably null
R7198:Dclk1 UTSW 3 55477875 missense possibly damaging 0.70
R7843:Dclk1 UTSW 3 55255877 missense probably damaging 1.00
R7926:Dclk1 UTSW 3 55255877 missense probably damaging 1.00
Z1088:Dclk1 UTSW 3 55500105 missense probably damaging 1.00
Z1177:Dclk1 UTSW 3 55256013 missense probably benign
Posted On2016-08-02