Incidental Mutation 'R4851:Dclk1'
ID 373528
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 042463-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.693) question?
Stock # R4851 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 55149785-55446489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55387811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 86 (G86R)
Ref Sequence ENSEMBL: ENSMUSP00000142840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054237] [ENSMUST00000070418] [ENSMUST00000196745] [ENSMUST00000198412] [ENSMUST00000198437] [ENSMUST00000200352] [ENSMUST00000199169] [ENSMUST00000199702]
AlphaFold Q9JLM8
Predicted Effect probably damaging
Transcript: ENSMUST00000054237
AA Change: G409R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050034
Gene: ENSMUSG00000027797
AA Change: G409R

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: G86R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070292
Gene: ENSMUSG00000027797
AA Change: G86R

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 benign
Transcript: ENSMUST00000196745
AA Change: G393R

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143659
Gene: ENSMUSG00000027797
AA Change: G393R

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 possibly damaging
Transcript: ENSMUST00000198412
AA Change: G86R

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142637
Gene: ENSMUSG00000027797
AA Change: G86R

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 possibly damaging
Transcript: ENSMUST00000198437
AA Change: G102R

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143016
Gene: ENSMUSG00000027797
AA Change: G102R

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 damaging
Transcript: ENSMUST00000200352
AA Change: G86R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142840
Gene: ENSMUSG00000027797
AA Change: G86R

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 probably damaging
Transcript: ENSMUST00000199169
AA Change: G86R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143563
Gene: ENSMUSG00000027797
AA Change: G86R

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 possibly damaging
Transcript: ENSMUST00000199702
AA Change: G85R

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143507
Gene: ENSMUSG00000027797
AA Change: G85R

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
Meta Mutation Damage Score 0.4633 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (99/99)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,433,890 (GRCm39) R4148S probably benign Het
Acoxl T A 2: 127,886,311 (GRCm39) L182Q possibly damaging Het
Aldh7a1 T C 18: 56,665,088 (GRCm39) T364A possibly damaging Het
App T C 16: 84,853,322 (GRCm39) D252G unknown Het
Arid1a A G 4: 133,408,672 (GRCm39) I1945T unknown Het
Arsk C T 13: 76,213,398 (GRCm39) probably null Het
Atad2b G A 12: 4,993,251 (GRCm39) G257S probably benign Het
Best1 C A 19: 9,969,062 (GRCm39) R218L probably damaging Het
Cacna1e A T 1: 154,312,300 (GRCm39) probably null Het
Cdh13 C T 8: 119,484,129 (GRCm39) T130I possibly damaging Het
Cela2a T C 4: 141,552,902 (GRCm39) E25G probably benign Het
Cgnl1 T A 9: 71,632,314 (GRCm39) I346F probably damaging Het
Chil6 C T 3: 106,297,244 (GRCm39) G299D possibly damaging Het
Cic G A 7: 24,972,327 (GRCm39) R686H probably damaging Het
Cnpy1 T C 5: 28,450,738 (GRCm39) I23V probably benign Het
Col6a3 T A 1: 90,707,011 (GRCm39) Y2034F unknown Het
Coq10b T C 1: 55,110,903 (GRCm39) Y224H probably benign Het
Cryge G T 1: 65,090,211 (GRCm39) probably benign Het
Cyb5rl T G 4: 106,941,510 (GRCm39) S252A probably benign Het
Cyp2ab1 T A 16: 20,133,814 (GRCm39) R125S probably damaging Het
Dmtn A G 14: 70,842,254 (GRCm39) M382T probably damaging Het
Dnaaf8 A G 16: 4,794,138 (GRCm39) noncoding transcript Het
Dnah12 T A 14: 26,437,784 (GRCm39) L471* probably null Het
Dock10 A T 1: 80,526,874 (GRCm39) S782T probably benign Het
Egfem1 C A 3: 29,206,032 (GRCm39) H90N possibly damaging Het
Ephb6 T A 6: 41,595,079 (GRCm39) W698R probably benign Het
Exoc4 T A 6: 33,895,343 (GRCm39) C787S probably damaging Het
Exosc8 A T 3: 54,639,523 (GRCm39) probably benign Het
Galc T A 12: 98,193,533 (GRCm39) Q352L probably benign Het
Galns A G 8: 123,327,272 (GRCm39) Y167H probably damaging Het
Glb1l T C 1: 75,185,528 (GRCm39) probably benign Het
Gm6185 A T 1: 161,033,750 (GRCm39) noncoding transcript Het
Gm7694 T C 1: 170,128,794 (GRCm39) N245S probably benign Het
Gmcl1 T G 6: 86,681,538 (GRCm39) K385N possibly damaging Het
Gramd1c A T 16: 43,810,200 (GRCm39) W463R probably damaging Het
Gtpbp8 C G 16: 44,566,433 (GRCm39) A90P probably benign Het
H2bc11 G T 13: 22,227,421 (GRCm39) probably benign Het
Hcar1 T C 5: 124,016,731 (GRCm39) E320G probably benign Het
Hhatl T C 9: 121,618,077 (GRCm39) D226G probably damaging Het
Hoxc5 T A 15: 102,923,801 (GRCm39) I199N probably damaging Het
Iars2 T C 1: 185,059,845 (GRCm39) D121G probably damaging Het
Il5ra T A 6: 106,715,432 (GRCm39) H134L probably benign Het
Isl2 T A 9: 55,452,271 (GRCm39) I281N possibly damaging Het
Kcnk13 T C 12: 99,932,383 (GRCm39) F60L probably damaging Het
Kdelr3 C T 15: 79,409,066 (GRCm39) T85M possibly damaging Het
Kdf1 A T 4: 133,255,676 (GRCm39) H131L probably damaging Het
Mipol1 T A 12: 57,379,087 (GRCm39) L182I probably damaging Het
Morc1 T G 16: 48,381,980 (GRCm39) S513R probably benign Het
Moxd2 A T 6: 40,855,756 (GRCm39) L611H probably damaging Het
Mpped2 T C 2: 106,529,724 (GRCm39) probably benign Het
Mrpl51 T C 6: 125,170,270 (GRCm39) V92A probably benign Het
Mrps26 G A 2: 130,405,681 (GRCm39) probably benign Het
Mrps5 A G 2: 127,432,665 (GRCm39) T29A probably benign Het
Mustn1 A G 14: 30,601,517 (GRCm39) probably benign Het
Ncor2 G A 5: 125,110,431 (GRCm39) P858S possibly damaging Het
Nfasc A G 1: 132,529,759 (GRCm39) F807S probably damaging Het
Nup50 G A 15: 84,823,912 (GRCm39) V422I probably benign Het
Or10x1 T A 1: 174,196,562 (GRCm39) F26L probably benign Het
Or13a25 A T 7: 140,247,226 (GRCm39) M2L probably benign Het
Or1e25 A T 11: 73,493,883 (GRCm39) H159L probably damaging Het
Or2ag13 A T 7: 106,473,221 (GRCm39) V77D probably damaging Het
Or3a1d C A 11: 74,237,769 (GRCm39) V214L probably benign Het
Or4c107 A G 2: 88,788,930 (GRCm39) N40S probably damaging Het
Or8b44 T A 9: 38,410,319 (GRCm39) M118K probably damaging Het
Or8u9 T A 2: 86,002,015 (GRCm39) I49F probably damaging Het
Osbpl8 T A 10: 111,040,661 (GRCm39) M1K probably null Het
Pcdhb22 A C 18: 37,652,087 (GRCm39) D185A possibly damaging Het
Pcdhga8 G T 18: 37,949,457 (GRCm39) R291L probably damaging Het
Saysd1 A T 14: 20,127,672 (GRCm39) L84Q possibly damaging Het
Slc41a1 T C 1: 131,758,508 (GRCm39) I50T probably benign Het
Smg7 G A 1: 152,720,020 (GRCm39) P834S probably benign Het
Speer4a1 C T 5: 26,243,210 (GRCm39) V92M probably damaging Het
Srf T C 17: 46,860,400 (GRCm39) T461A probably benign Het
Ssu72 A G 4: 155,800,053 (GRCm39) D72G possibly damaging Het
Suco T C 1: 161,661,761 (GRCm39) E890G probably damaging Het
Tenm3 A G 8: 48,763,656 (GRCm39) probably null Het
Tm6sf1 A G 7: 81,515,091 (GRCm39) E7G probably null Het
Tm9sf2 A G 14: 122,378,616 (GRCm39) K240R probably benign Het
Tmem52 T A 4: 155,554,825 (GRCm39) Y149* probably null Het
Tpgs2 A T 18: 25,284,305 (GRCm39) Y68N possibly damaging Het
Vmn1r205 T A 13: 22,777,074 (GRCm39) E9D probably benign Het
Vmn2r32 A G 7: 7,482,953 (GRCm39) V7A possibly damaging Het
Vmn2r80 T C 10: 79,030,156 (GRCm39) Y661H possibly damaging Het
Vps39 G A 2: 120,152,312 (GRCm39) probably benign Het
Vwde A T 6: 13,196,047 (GRCm39) V326D possibly damaging Het
Zfp641 T A 15: 98,186,598 (GRCm39) S342C probably damaging Het
Zfp961 T C 8: 72,722,847 (GRCm39) probably benign 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
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
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'- CATTGAGTCAGTCTGAGCCTGC -3'
(R):5'- AAAGTCTGTCCTTAGGTGGC -3'

Sequencing Primer
(F):5'- TCTGAGCCTGCCAGGGAG -3'
(R):5'- AAAGTCTGTCCTTAGGTGGCTTTTC -3'
Posted On 2016-03-01