Mutagenetix > Incidental Mutations

Incidental Mutation 'R6970:Dclk1'

542165

Institutional Source

Beutler Lab

Gene Symbol

Dclk1

Ensembl Gene

ENSMUSG00000027797

Gene Name

doublecortin-like kinase 1

Synonyms

2810480F11Rik, Dcamkl1, CPG16, Click-I, Dcl, DCLK, 1700113D08Rik

MMRRC Submission

Accession Numbers

Genbank: NM_019978; MGI: 1330861

Is this an essential gene?

Possibly essential (E-score: 0.629) question?

Stock #

R6970 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55242364-55539068 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 55466601 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054237] [ENSMUST00000070418] [ENSMUST00000167204] [ENSMUST00000179544] [ENSMUST00000196745] [ENSMUST00000198412] [ENSMUST00000198437] [ENSMUST00000199169] [ENSMUST00000199585] [ENSMUST00000199702] [ENSMUST00000200352]

AlphaFold

Q9JLM8

Predicted Effect

probably benign
Transcript: ENSMUST00000054237

SMART Domains

Protein: ENSMUSP00000050034
Gene: ENSMUSG00000027797

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000070292
Gene: ENSMUSG00000027797

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000167204
AA Change: D355V

SMART Domains

Protein: ENSMUSP00000129334
Gene: ENSMUSG00000027797
AA Change: D355V

Domain	Start	End	E-Value	Type
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	351	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179544

Predicted Effect

probably benign
Transcript: ENSMUST00000196745

SMART Domains

Protein: ENSMUSP00000143659
Gene: ENSMUSG00000027797

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000198412

SMART Domains

Protein: ENSMUSP00000142637
Gene: ENSMUSG00000027797

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000143016
Gene: ENSMUSG00000027797

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000143563
Gene: ENSMUSG00000027797

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000199585
AA Change: D48V

SMART Domains

Protein: ENSMUSP00000142698
Gene: ENSMUSG00000027797
AA Change: D48V

Domain	Start	End	E-Value	Type
low complexity region	16	33	N/A	INTRINSIC
low complexity region	44	56	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199702

SMART Domains

Protein: ENSMUSP00000143507
Gene: ENSMUSG00000027797

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000200352

SMART Domains

Protein: ENSMUSP00000142840
Gene: ENSMUSG00000027797

Domain	Start	End	E-Value	Type
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: 99.2%
20x: 97.2%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,112,314		probably null	Het
2410089E03Rik	T	C	15: 8,187,548	V750A	probably benign	Het
Acadsb	T	C	7: 131,434,315	Y285H	possibly damaging	Het
Adam17	A	G	12: 21,345,668	S285P	probably benign	Het
Adcy10	A	G	1: 165,556,916	N1082S	probably benign	Het
Ahdc1	T	A	4: 133,062,345	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,772,600		probably benign	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,738,462	V543A	probably damaging	Het
BC034090	T	A	1: 155,241,439	D311V	probably damaging	Het
Blnk	G	T	19: 40,962,377	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,718,585	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,709,533	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,615,958	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,457,220	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,989,977	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,118,137	F188L	probably benign	Het
Ddx20	A	T	3: 105,680,358	L434H	probably damaging	Het
Ddx51	G	A	5: 110,656,862	V547M	probably damaging	Het
Dnah11	T	A	12: 118,108,944	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,507,422	E149G	probably damaging	Het
Fat4	A	G	3: 38,981,775	N3192S	probably damaging	Het
Fat4	A	T	3: 38,995,971	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,284,620		probably null	Het
Gm11639	A	G	11: 104,776,356	E1422G	probably benign	Het
Gm12185	G	A	11: 48,907,912	R585*	probably null	Het
Gm32687	A	G	10: 81,879,470	H232R	probably benign	Het
Gm5431	G	T	11: 48,888,490	A535D	probably damaging	Het
Gm8300	G	T	12: 87,516,618		probably benign	Het
Gm906	A	T	13: 50,246,971	Y440N	possibly damaging	Het
Jarid2	C	T	13: 44,902,985	P556S	probably damaging	Het
Map3k4	C	A	17: 12,248,916	G1077V	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mlxip	A	G	5: 123,445,672	T433A	possibly damaging	Het
Mus81	G	T	19: 5,485,526	H199Q	probably benign	Het
Mylk3	G	A	8: 85,359,263	T54M	probably damaging	Het
Nalcn	A	G	14: 123,314,094	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,667,013	S513A	probably benign	Het
Ninj2	A	G	6: 120,198,131	I88V	possibly damaging	Het
Nomo1	C	T	7: 46,045,967	P277L	probably damaging	Het
Nup214	C	T	2: 32,051,798	S571L	probably damaging	Het
Olfr1469	T	A	19: 13,411,428	N286K	probably damaging	Het
Olfr461	T	C	6: 40,544,656	S108G	probably benign	Het
Olfr980	T	A	9: 40,006,713	M79L	probably benign	Het
Pcdh15	C	T	10: 74,502,687	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,511,674	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,125,116	C34R	probably damaging	Het
Plekha2	T	C	8: 25,059,264	Q168R	probably benign	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plekhm3	T	G	1: 64,892,753	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,530,546	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,329,823	Y302*	probably null	Het
Prdm8	A	G	5: 98,184,612	E124G	probably damaging	Het
Prg4	T	G	1: 150,455,906		probably benign	Het
Qser1	A	G	2: 104,788,130	V779A	probably benign	Het
Rbm39	G	A	2: 156,167,584	R123C	probably damaging	Het
Ric1	C	T	19: 29,587,772	P640S	probably damaging	Het
Rpl14	G	A	9: 120,574,227		probably benign	Het
Rsl1d1	T	A	16: 11,193,694	D382V	probably benign	Het
Rubcn	G	T	16: 32,868,144		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,356,972	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,316,096	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,179,831	Y674S	probably damaging	Het
Strc	A	C	2: 121,378,014	M292R	probably benign	Het
Syde2	A	G	3: 145,988,626	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,755,048	A97E	probably benign	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tepsin	G	A	11: 120,095,364	T168M	probably damaging	Het
Tex15	A	T	8: 33,557,428	M178L	probably benign	Het
Tgfbr2	T	C	9: 116,110,051	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,727,989	V2531A	probably damaging	Het
Ttn	T	G	2: 76,895,423		probably benign	Het
Tubgcp3	G	T	8: 12,637,000	D630E	probably damaging	Het
Ubr4	G	A	4: 139,406,528	W745*	probably null	Het
Vmn2r115	G	A	17: 23,346,015	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,075,341	K681*	probably null	Het
Xrcc6	A	G	15: 82,031,174	K98E	probably benign	Het
Zfp423	A	G	8: 87,803,779	V13A	probably benign	Het
Zfp512b	A	G	2: 181,586,348	I5T	possibly damaging	Het
Zmynd8	C	T	2: 165,875,750	E14K	probably damaging	Het

Other mutations in Dclk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03213:Dclk1	APN	3	55480384	nonsense	probably null
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
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
R8476:Dclk1	UTSW	3	55533679	missense	probably damaging	1.00
R8677:Dclk1	UTSW	3	55502419	missense	probably damaging	0.96
R9060:Dclk1	UTSW	3	55256154	missense	probably benign	0.02
R9332:Dclk1	UTSW	3	55463079	missense	probably damaging	0.98
R9377:Dclk1	UTSW	3	55521953	missense	possibly damaging	0.72
R9384:Dclk1	UTSW	3	55247515	missense	possibly damaging	0.81
Z1088:Dclk1	UTSW	3	55500105	missense	probably damaging	1.00
Z1177:Dclk1	UTSW	3	55256013	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAAGCGTTTTCTTGCCGATG -3'
(R):5'- GAGTAGAAAATGTCGGCACCCTTG -3'

Sequencing Primer
(F):5'- AAGCGTTTTCTTGCCGATGAAATG -3'
(R):5'- GGGAAACCTTGATCCCAT -3'

Posted On

2018-11-28