Incidental Mutation 'R9569:Dclk1'
ID 721822
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 068966-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.693) question?
Stock # R9569 (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 T at 55387852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 422 (E422D)
Ref Sequence ENSEMBL: ENSMUSP00000050034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054237] [ENSMUST00000070418] [ENSMUST00000196745] [ENSMUST00000198412] [ENSMUST00000198437] [ENSMUST00000199169] [ENSMUST00000199702] [ENSMUST00000200352]
AlphaFold Q9JLM8
Predicted Effect probably benign
Transcript: ENSMUST00000054237
AA Change: E422D

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000050034
Gene: ENSMUSG00000027797
AA Change: E422D

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 possibly damaging
Transcript: ENSMUST00000070418
AA Change: E99D

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070292
Gene: ENSMUSG00000027797
AA Change: E99D

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: E406D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143659
Gene: ENSMUSG00000027797
AA Change: E406D

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
SMART Domains Protein: ENSMUSP00000142637
Gene: ENSMUSG00000027797
AA Change: E99D

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 benign
Transcript: ENSMUST00000198437
AA Change: E115D

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143016
Gene: ENSMUSG00000027797
AA Change: E115D

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 benign
Transcript: ENSMUST00000199169
AA Change: E99D

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143563
Gene: ENSMUSG00000027797
AA Change: E99D

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 benign
Transcript: ENSMUST00000199702
AA Change: E98D

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143507
Gene: ENSMUSG00000027797
AA Change: E98D

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 possibly damaging
Transcript: ENSMUST00000200352
AA Change: E99D

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142840
Gene: ENSMUSG00000027797
AA Change: E99D

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 T A 1: 60,503,763 (GRCm39) V356D probably damaging Het
Adgrd1 T C 5: 129,256,701 (GRCm39) V690A possibly damaging Het
Apba2 T C 7: 64,393,138 (GRCm39) M553T possibly damaging Het
Apeh C T 9: 107,971,609 (GRCm39) V13M unknown Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Apol7e C T 15: 77,601,933 (GRCm39) T177I probably damaging Het
Bltp1 T C 3: 37,066,770 (GRCm39) M211T Het
Bub1b T C 2: 118,468,884 (GRCm39) I883T probably damaging Het
C9 T C 15: 6,489,062 (GRCm39) S140P probably damaging Het
Cbfa2t2 T A 2: 154,346,485 (GRCm39) I64N probably benign Het
Cd180 A T 13: 102,842,486 (GRCm39) I511F possibly damaging Het
Cic T C 7: 24,972,120 (GRCm39) V617A possibly damaging Het
Clca3a2 A C 3: 144,513,075 (GRCm39) probably null Het
D5Ertd579e T C 5: 36,759,979 (GRCm39) T1394A probably damaging Het
Depdc5 A T 5: 33,025,321 (GRCm39) D21V probably damaging Het
Dis3l A G 9: 64,236,829 (GRCm39) F40S unknown Het
Duox1 T C 2: 122,148,971 (GRCm39) V82A probably benign Het
Dus2 T C 8: 106,771,507 (GRCm39) V211A probably damaging Het
Eif2ak4 G A 2: 118,251,316 (GRCm39) S326N probably benign Het
Fat3 A C 9: 15,830,495 (GRCm39) L153R Het
Gpx8 C T 13: 113,182,125 (GRCm39) V103I probably damaging Het
Gtf2a1l A G 17: 89,001,948 (GRCm39) D268G probably benign Het
Hc T C 2: 34,926,359 (GRCm39) I342V probably benign Het
Hsp90ab1 T A 17: 45,879,878 (GRCm39) D546V possibly damaging Het
Ifi206 T G 1: 173,314,209 (GRCm39) D77A Het
Igfbp1 A G 11: 7,147,881 (GRCm39) probably benign Het
Kdm3a T C 6: 71,584,434 (GRCm39) D559G probably benign Het
Kif2a A G 13: 107,105,246 (GRCm39) I565T probably benign Het
Krt1c T C 15: 101,724,924 (GRCm39) T229A probably damaging Het
Lcmt2 G A 2: 120,970,522 (GRCm39) A187V probably damaging Het
Mapk8ip1 A G 2: 92,217,599 (GRCm39) M241T probably benign Het
Mup15 T C 4: 61,357,875 (GRCm39) probably benign Het
Myo9b T C 8: 71,811,629 (GRCm39) V1912A probably benign Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Naip5 T C 13: 100,359,821 (GRCm39) T472A probably benign Het
Net1 A G 13: 3,938,518 (GRCm39) F123S probably benign Het
Or1j8 T C 2: 36,191,946 (GRCm39) Y132H probably damaging Het
Or52n2 C T 7: 104,542,525 (GRCm39) M103I possibly damaging Het
Or5h17 A G 16: 58,820,228 (GRCm39) Y60C probably damaging Het
Pcdhb13 T C 18: 37,576,153 (GRCm39) F177S probably damaging Het
Pclo T C 5: 14,907,065 (GRCm39) probably null Het
Perm1 A G 4: 156,303,039 (GRCm39) T528A probably benign Het
Pik3c2a C T 7: 115,957,939 (GRCm39) A1116T possibly damaging Het
Prox2 G A 12: 85,141,766 (GRCm39) Q146* probably null Het
Psd A T 19: 46,308,717 (GRCm39) C639S possibly damaging Het
Rffl T A 11: 82,703,264 (GRCm39) T220S probably benign Het
Scn2a A G 2: 65,560,622 (GRCm39) D1284G probably damaging Het
Scube1 T C 15: 83,513,605 (GRCm39) Y385C probably damaging Het
Sec14l3 A T 11: 4,026,324 (GRCm39) D388V probably damaging Het
Slc26a1 G T 5: 108,819,460 (GRCm39) Q596K probably benign Het
Slc6a19 T C 13: 73,834,030 (GRCm39) T343A probably benign Het
Slc7a4 A G 16: 17,393,262 (GRCm39) V179A Het
Sox14 T G 9: 99,757,562 (GRCm39) D49A Het
Spata31g1 G C 4: 42,971,740 (GRCm39) V358L probably benign Het
Timm22 A G 11: 76,298,196 (GRCm39) S56G probably benign Het
Tmub2 G A 11: 102,179,153 (GRCm39) W322* probably null Het
Tsc22d4 A G 5: 137,756,428 (GRCm39) T8A probably benign Het
Ttn T C 2: 76,539,652 (GRCm39) I34445V probably benign Het
Tyms A T 5: 30,268,360 (GRCm39) Y196* probably null Het
Ube2o G A 11: 116,434,823 (GRCm39) T546M probably damaging Het
Umodl1 A G 17: 31,217,143 (GRCm39) Y1125C probably damaging Het
Unc13b CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,312 (GRCm39) probably benign Het
Unk A T 11: 115,950,035 (GRCm39) Q747L probably damaging Het
Vmn1r170 A G 7: 23,306,294 (GRCm39) E232G probably benign Het
Vps41 A G 13: 19,013,396 (GRCm39) Y338C possibly damaging Het
Washc5 T C 15: 59,215,980 (GRCm39) M800V probably benign Het
Wt1 T A 2: 104,993,711 (GRCm39) I348N possibly damaging Het
Xirp2 A G 2: 67,341,242 (GRCm39) Y1161C probably damaging Het
Xpo7 A G 14: 70,906,140 (GRCm39) M1001T possibly damaging Het
Yeats2 A T 16: 19,972,902 (GRCm39) R19W probably damaging Het
Zfp142 T C 1: 74,615,386 (GRCm39) T476A probably damaging Het
Zfp229 T C 17: 21,964,573 (GRCm39) W268R possibly damaging Het
Zfp473 A G 7: 44,388,971 (GRCm39) F50S probably damaging Het
Zfp975 A T 7: 42,311,413 (GRCm39) M400K probably benign Het
Zkscan5 A G 5: 145,144,419 (GRCm39) M150V probably benign Het
Znfx1 T A 2: 166,897,875 (GRCm39) I350F 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
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
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'- TAATCTGCGAGAAGACGGTTAG -3'
(R):5'- TCCTGACAGAACTGGAAAGC -3'

Sequencing Primer
(F):5'- AGACGGTTAGAAATGTGTCTTAAAC -3'
(R):5'- CCTGACAGAACTGGAAAGCTTTTC -3'
Posted On 2022-08-09