Incidental Mutation 'R1540:Dclk1'
ID 171635
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 039579-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.693) question?
Stock # R1540 (G1)
Quality Score 216
Status Validated
Chromosome 3
Chromosomal Location 55149785-55446489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55385244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 45 (S45P)
Ref Sequence ENSEMBL: ENSMUSP00000143016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054237] [ENSMUST00000070418] [ENSMUST00000196745] [ENSMUST00000198412] [ENSMUST00000198437] [ENSMUST00000199702] [ENSMUST00000199169] [ENSMUST00000200352]
AlphaFold Q9JLM8
Predicted Effect probably benign
Transcript: ENSMUST00000054237
AA Change: S352P

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000050034
Gene: ENSMUSG00000027797
AA Change: S352P

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 benign
Transcript: ENSMUST00000070418
AA Change: S45P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000070292
Gene: ENSMUSG00000027797
AA Change: S45P

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: S352P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000143659
Gene: ENSMUSG00000027797
AA Change: S352P

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 damaging
Transcript: ENSMUST00000198412
AA Change: S45P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142637
Gene: ENSMUSG00000027797
AA Change: S45P

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: S45P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143016
Gene: ENSMUSG00000027797
AA Change: S45P

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: ENSMUST00000199702
AA Change: S45P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143507
Gene: ENSMUSG00000027797
AA Change: S45P

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: ENSMUST00000199169
AA Change: S45P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143563
Gene: ENSMUSG00000027797
AA Change: S45P

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: ENSMUST00000200352
AA Change: S45P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000142840
Gene: ENSMUSG00000027797
AA Change: S45P

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
Meta Mutation Damage Score 0.2219 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 96% (72/75)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,574,384 (GRCm39) C767R probably benign Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Ap3d1 A T 10: 80,551,775 (GRCm39) I644N probably benign Het
Asb16 A G 11: 102,163,402 (GRCm39) I131V probably benign Het
Atp6v0a2 C A 5: 124,784,638 (GRCm39) A307D probably damaging Het
C1qtnf1 C T 11: 118,338,749 (GRCm39) H140Y probably benign Het
Cacna1g T A 11: 94,347,865 (GRCm39) D741V probably damaging Het
Caprin2 T A 6: 148,777,969 (GRCm39) T211S probably benign Het
Carmil1 T C 13: 24,283,037 (GRCm39) E89G possibly damaging Het
Casz1 T A 4: 149,027,357 (GRCm39) probably benign Het
Catsperb G A 12: 101,378,589 (GRCm39) R30Q probably benign Het
Ccdc102a A T 8: 95,634,341 (GRCm39) probably null Het
Ccdc110 G T 8: 46,395,362 (GRCm39) E418* probably null Het
Ccdc90b C T 7: 92,231,024 (GRCm39) A210V probably benign Het
Cdadc1 G T 14: 59,823,532 (GRCm39) A320E probably damaging Het
Cdadc1 T A 14: 59,823,541 (GRCm39) Q317L probably damaging Het
Cep170 C A 1: 176,567,498 (GRCm39) W1396L probably damaging Het
Col4a6 T C X: 140,010,854 (GRCm39) T129A probably damaging Het
Ctcfl C T 2: 172,954,141 (GRCm39) D319N probably benign Het
Efcab3 T C 11: 104,999,726 (GRCm39) I5581T probably benign Het
Evi2 T C 11: 79,406,412 (GRCm39) I388V probably benign Het
Fbxl5 A T 5: 43,915,978 (GRCm39) V435E possibly damaging Het
Fig4 A T 10: 41,064,582 (GRCm39) M887K possibly damaging Het
Glt8d1 G A 14: 30,733,549 (GRCm39) V345I probably benign Het
Gm5709 T C 3: 59,526,073 (GRCm39) noncoding transcript Het
Hsp90b1 A G 10: 86,529,906 (GRCm39) F264L probably damaging Het
Id3 A G 4: 135,871,250 (GRCm39) S21G possibly damaging Het
Ighe T A 12: 113,235,066 (GRCm39) N365Y unknown Het
Il17rd T G 14: 26,821,915 (GRCm39) M403R probably damaging Het
Ints10 A G 8: 69,249,365 (GRCm39) probably benign Het
Kcnc4 T A 3: 107,352,743 (GRCm39) probably null Het
Kctd19 A G 8: 106,114,511 (GRCm39) S517P probably damaging Het
Lama5 A G 2: 179,821,944 (GRCm39) F2964L probably benign Het
Lin54 A T 5: 100,628,109 (GRCm39) N31K probably damaging Het
Lrrc8e A G 8: 4,284,990 (GRCm39) K405R probably benign Het
Lyst T A 13: 13,809,686 (GRCm39) M452K possibly damaging Het
Mroh7 A G 4: 106,560,273 (GRCm39) L677P probably benign Het
Mrps27 T A 13: 99,541,558 (GRCm39) F221I probably benign Het
Nhlrc1 C T 13: 47,167,820 (GRCm39) V146M probably damaging Het
Nlrp9b T A 7: 19,782,772 (GRCm39) C895* probably null Het
Nod1 T C 6: 54,920,960 (GRCm39) T453A probably benign Het
Nodal T C 10: 61,258,764 (GRCm39) V67A probably damaging Het
Ntsr1 T C 2: 180,184,440 (GRCm39) L381P probably damaging Het
Or13c25 T C 4: 52,910,996 (GRCm39) D266G probably benign Het
Or2b2b T A 13: 21,858,700 (GRCm39) Q138L probably benign Het
Or9e1 T A 11: 58,732,477 (GRCm39) M179K probably benign Het
P2ry14 T A 3: 59,022,686 (GRCm39) K267M probably benign Het
Pcdh1 T C 18: 38,322,779 (GRCm39) N1018S probably benign Het
Pkn3 G A 2: 29,974,703 (GRCm39) V406I probably damaging Het
Prkcb C T 7: 122,226,916 (GRCm39) T634I probably damaging Het
Psme2b T A 11: 48,836,209 (GRCm39) probably null Het
Ptgfrn A G 3: 100,967,970 (GRCm39) I541T probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapb T C 2: 158,307,746 (GRCm39) V684A probably benign Het
Rbbp5 C T 1: 132,422,020 (GRCm39) R307* probably null Het
Rcor1 T A 12: 111,070,037 (GRCm39) probably benign Het
Rlbp1 C T 7: 79,029,808 (GRCm39) A142T probably damaging Het
Rps6ka2 A G 17: 7,560,305 (GRCm39) E581G probably null Het
Sars1 A T 3: 108,340,461 (GRCm39) V155E probably benign Het
Sec31a G C 5: 100,523,178 (GRCm39) P569A probably damaging Het
Selenof A T 3: 144,300,685 (GRCm39) K111* probably null Het
Serpinb7 C T 1: 107,355,998 (GRCm39) A7V possibly damaging Het
Smc4 T A 3: 68,924,105 (GRCm39) Y298N probably damaging Het
Snrpa1 T A 7: 65,720,409 (GRCm39) I204N probably damaging Het
Spry4 T G 18: 38,734,740 (GRCm39) probably benign Het
Tcea2 A G 2: 181,328,751 (GRCm39) N261S possibly damaging Het
Tmem59l A G 8: 70,937,804 (GRCm39) F192S probably benign Het
Tnr T A 1: 159,677,675 (GRCm39) I20N probably damaging Het
Ttll5 C T 12: 85,938,982 (GRCm39) Q427* probably null Het
Vps45 C T 3: 95,955,658 (GRCm39) A111T probably damaging Het
Zfp395 T C 14: 65,630,523 (GRCm39) S358P probably benign Het
Zfp438 A G 18: 5,210,740 (GRCm39) V766A 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
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
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'- CCAAGTTGGCCTCAGGTTTACTGTG -3'
(R):5'- TGTAGGAATCACCCACTCCTGTCC -3'

Sequencing Primer
(F):5'- GTCCAGTGTTCAAACGATTAGCC -3'
(R):5'- TGTCCCCAGTGAGAGTCAGTC -3'
Posted On 2014-04-13