Incidental Mutation 'R6190:Dclk1'
ID 502440
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 044330-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.670) question?
Stock # R6190 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 55149785-55446489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55395232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 128 (E128G)
Ref Sequence ENSEMBL: ENSMUSP00000143507 (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: E452G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050034
Gene: ENSMUSG00000027797
AA Change: E452G

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 damaging
Transcript: ENSMUST00000070418
AA Change: E129G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070292
Gene: ENSMUSG00000027797
AA Change: E129G

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 damaging
Transcript: ENSMUST00000196745
AA Change: E436G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143659
Gene: ENSMUSG00000027797
AA Change: E436G

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 probably damaging
Transcript: ENSMUST00000198412
AA Change: E129G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142637
Gene: ENSMUSG00000027797
AA Change: E129G

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 damaging
Transcript: ENSMUST00000198437
AA Change: E145G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143016
Gene: ENSMUSG00000027797
AA Change: E145G

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 probably damaging
Transcript: ENSMUST00000199169
AA Change: E129G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143563
Gene: ENSMUSG00000027797
AA Change: E129G

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 damaging
Transcript: ENSMUST00000199702
AA Change: E128G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143507
Gene: ENSMUSG00000027797
AA Change: E128G

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 probably damaging
Transcript: ENSMUST00000200352
AA Change: E129G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142840
Gene: ENSMUSG00000027797
AA Change: E129G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200221
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,423,472 (GRCm39) L224Q probably damaging Het
Abcc5 A G 16: 20,211,529 (GRCm39) M478T probably benign Het
Acot10 T C 15: 20,665,871 (GRCm39) D290G possibly damaging Het
Actr3b A G 5: 26,036,688 (GRCm39) Q167R probably benign Het
Actr8 C T 14: 29,713,674 (GRCm39) R565* probably null Het
Adcy7 C T 8: 89,052,358 (GRCm39) probably null Het
Adgrb3 C T 1: 25,459,728 (GRCm39) V576I probably benign Het
Adgrv1 T A 13: 81,607,882 (GRCm39) probably null Het
Adgrv1 A T 13: 81,672,898 (GRCm39) probably null Het
Ak2 A G 4: 128,892,976 (GRCm39) D45G probably damaging Het
Ak9 C G 10: 41,298,403 (GRCm39) Q1489E unknown Het
Ak9 A T 10: 41,298,404 (GRCm39) Q1489L unknown Het
Akap12 C A 10: 4,306,268 (GRCm39) S1026Y possibly damaging Het
Ankhd1 T G 18: 36,744,862 (GRCm39) S601A possibly damaging Het
Apba2 A T 7: 64,389,628 (GRCm39) E508V probably damaging Het
Arhgap18 A G 10: 26,722,031 (GRCm39) M1V probably null Het
Arhgef10l G A 4: 140,270,073 (GRCm39) T865M possibly damaging Het
Bdh1 T A 16: 31,268,715 (GRCm39) V150D probably damaging Het
Becn1 A G 11: 101,186,200 (GRCm39) C135R probably damaging Het
C2cd4d A G 3: 94,271,226 (GRCm39) D164G probably benign Het
Cacna1e C A 1: 154,362,316 (GRCm39) V424F possibly damaging Het
Capn7 C A 14: 31,085,560 (GRCm39) T511K probably benign Het
Cdc5l G A 17: 45,718,943 (GRCm39) P558S probably benign Het
Cep170 T A 1: 176,609,975 (GRCm39) H112L probably damaging Het
Cfap61 C T 2: 145,789,053 (GRCm39) T19M probably benign Het
Clca3a1 A G 3: 144,463,821 (GRCm39) V152A probably benign Het
Cnot10 G T 9: 114,461,791 (GRCm39) T24K probably damaging Het
Cntnap5b T A 1: 100,306,800 (GRCm39) I839N possibly damaging Het
Cyp4f13 A T 17: 33,148,847 (GRCm39) D299E probably damaging Het
Dennd1b T C 1: 139,061,413 (GRCm39) I365T probably damaging Het
Dgcr8 T C 16: 18,102,274 (GRCm39) T3A probably damaging Het
Dld A C 12: 31,394,847 (GRCm39) I58S probably damaging Het
Dlg5 T A 14: 24,240,506 (GRCm39) R248S probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Faf1 C T 4: 109,719,012 (GRCm39) L373F probably damaging Het
Fam171b C T 2: 83,707,042 (GRCm39) T304I probably benign Het
Fcgrt A T 7: 44,751,622 (GRCm39) probably null Het
Gimap9 T C 6: 48,655,285 (GRCm39) W291R probably damaging Het
Gm4847 G A 1: 166,457,892 (GRCm39) A487V probably damaging Het
Gria4 T A 9: 4,420,199 (GRCm39) I888F probably benign Het
Hapln2 T A 3: 87,930,600 (GRCm39) I224F probably damaging Het
Herc1 T G 9: 66,283,663 (GRCm39) L332R possibly damaging Het
Hmgxb4 T C 8: 75,749,927 (GRCm39) V481A probably benign Het
Htr1d T C 4: 136,170,109 (GRCm39) S113P probably damaging Het
Ift81 T C 5: 122,689,163 (GRCm39) Q651R probably benign Het
Il17ra T C 6: 120,452,234 (GRCm39) S199P probably damaging Het
Itih2 T C 2: 10,103,318 (GRCm39) N723S probably benign Het
Jak1 A T 4: 101,032,325 (GRCm39) V427E probably damaging Het
Krt23 C T 11: 99,376,584 (GRCm39) D191N probably damaging Het
Lingo1 T A 9: 56,526,934 (GRCm39) I552F possibly damaging Het
Llgl2 G A 11: 115,737,812 (GRCm39) R199Q probably benign Het
Lrrc37a G T 11: 103,392,042 (GRCm39) Q1128K possibly damaging Het
Lrrc74a T C 12: 86,783,263 (GRCm39) V36A probably benign Het
M1ap T A 6: 82,980,877 (GRCm39) D254E possibly damaging Het
Mal2 C T 15: 54,434,794 (GRCm39) probably benign Het
Mbnl2 A G 14: 120,622,833 (GRCm39) T124A probably benign Het
Nfatc1 A G 18: 80,755,885 (GRCm39) S33P probably benign Het
Nfkbid A G 7: 30,125,162 (GRCm39) N253S probably damaging Het
Ngfr T A 11: 95,465,267 (GRCm39) I194F probably benign Het
Nhsl1 A G 10: 18,345,789 (GRCm39) probably benign Het
Nol9 T A 4: 152,125,691 (GRCm39) I214N possibly damaging Het
Or1o3 A G 17: 37,573,635 (GRCm39) S307P probably benign Het
Or5p56 T C 7: 107,590,307 (GRCm39) L245P probably damaging Het
Or8k3 T A 2: 86,058,578 (GRCm39) T246S possibly damaging Het
Pax3 C T 1: 78,169,186 (GRCm39) S160N possibly damaging Het
Pde3b A G 7: 114,122,267 (GRCm39) probably null Het
Pde5a A C 3: 122,522,956 (GRCm39) E21A probably benign Het
Plcxd1 A G 5: 110,250,469 (GRCm39) E270G probably damaging Het
Plxna1 T A 6: 89,333,586 (GRCm39) K348* probably null Het
Pramel34 A T 5: 93,785,937 (GRCm39) N114K probably benign Het
Prb1b T A 6: 132,289,692 (GRCm39) H44L unknown Het
Psg21 G T 7: 18,388,926 (GRCm39) D55E possibly damaging Het
Rasa1 C A 13: 85,381,814 (GRCm39) A493S probably benign Het
Raver2 A G 4: 100,990,814 (GRCm39) I396V probably benign Het
Rpa2 A G 4: 132,502,331 (GRCm39) K138E probably benign Het
Rsad1 T C 11: 94,439,062 (GRCm39) N133D probably damaging Het
Rusc1 T C 3: 88,999,188 (GRCm39) D198G probably benign Het
Samsn1 A T 16: 75,667,803 (GRCm39) Y258N probably damaging Het
Scap A G 9: 110,203,135 (GRCm39) N270D probably benign Het
Shisal2a A T 4: 108,225,052 (GRCm39) I170N probably damaging Het
Smpd4 T C 16: 17,449,877 (GRCm39) Y200H probably damaging Het
Steap2 A G 5: 5,725,881 (GRCm39) V381A probably damaging Het
Syk C T 13: 52,765,089 (GRCm39) T72I probably damaging Het
Tbc1d14 T C 5: 36,729,228 (GRCm39) D66G possibly damaging Het
Tcp11 A G 17: 28,290,691 (GRCm39) Y223H probably benign Het
Timm9 A G 12: 71,173,124 (GRCm39) S8P probably benign Het
Tmpo T C 10: 91,000,069 (GRCm39) probably null Het
Vezf1 T C 11: 87,967,012 (GRCm39) M81T probably benign Het
Vipr1 T A 9: 121,493,719 (GRCm39) W257R probably damaging Het
Vmn1r237 G A 17: 21,534,556 (GRCm39) G93D probably damaging Het
Vmn2r6 A G 3: 64,445,424 (GRCm39) V678A probably benign Het
Vmn2r85 T C 10: 130,261,330 (GRCm39) T336A possibly damaging Het
Xpnpep3 C A 15: 81,322,300 (GRCm39) D296E probably benign Het
Zfp35 C A 18: 24,137,118 (GRCm39) H487Q probably benign Het
Zfp606 A T 7: 12,227,928 (GRCm39) Y625F probably damaging Het
Zfp677 A G 17: 21,617,530 (GRCm39) T196A possibly damaging Het
Zmym1 T C 4: 126,941,677 (GRCm39) I904V probably damaging Het
Other mutations in Dclk1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6543:Dclk1 UTSW 3 55,407,552 (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'- TCCTGGATTCAATGTAATGGGG -3'
(R):5'- AGCCTCGAATATGACAACAGTAG -3'

Sequencing Primer
(F):5'- GGGTGATTTGATTTGATTCCCTTCCC -3'
(R):5'- ATACAGTTCAGTCGGCAC -3'
Posted On 2018-02-27