Mutagenetix > Incidental Mutation

Incidental Mutation 'R1928:Dclk1'

215021

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

039946-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.693) question?

Stock #

R1928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55149785-55446489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55154942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 124 (V124A)

Ref Sequence

ENSEMBL: ENSMUSP00000143659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054237] [ENSMUST00000167204] [ENSMUST00000196745] [ENSMUST00000200348]

AlphaFold

Q9JLM8

Predicted Effect

probably benign
Transcript: ENSMUST00000054237
AA Change: V124A

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000050034
Gene: ENSMUSG00000027797
AA Change: V124A

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: ENSMUST00000167204
AA Change: V124A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000129334
Gene: ENSMUSG00000027797
AA Change: V124A

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

possibly damaging
Transcript: ENSMUST00000196745
AA Change: V124A

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143659
Gene: ENSMUSG00000027797
AA Change: V124A

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

noncoding transcript
Transcript: ENSMUST00000198154

Predicted Effect

probably benign
Transcript: ENSMUST00000200348

SMART Domains

Protein: ENSMUSP00000143672
Gene: ENSMUSG00000027797

Domain	Start	End	E-Value	Type
Blast:DCX	23	50	6e-6	BLAST
DCX	52	111	3.8e-11	SMART

Meta Mutation Damage Score

0.0979

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

98% (120/123)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	G	6: 132,603,564 (GRCm39)	Q64P	unknown	Het
Adgrv1	A	T	13: 81,668,905 (GRCm39)	F1830L	probably benign	Het
Anks3	C	T	16: 4,763,918 (GRCm39)		probably null	Het
Aqp12	G	A	1: 92,934,332 (GRCm39)	D70N	probably damaging	Het
B4galnt4	C	T	7: 140,648,061 (GRCm39)	R526*	probably null	Het
Best2	A	G	8: 85,737,882 (GRCm39)	F171S	probably benign	Het
C2cd5	A	T	6: 142,958,956 (GRCm39)	V965D	probably damaging	Het
Cd33	T	C	7: 43,179,303 (GRCm39)	E282G	probably benign	Het
Cep95	C	T	11: 106,681,554 (GRCm39)		probably benign	Het
Chd6	A	T	2: 160,809,920 (GRCm39)		probably benign	Het
Clec4d	A	T	6: 123,244,120 (GRCm39)		probably null	Het
Cntd1	C	T	11: 101,174,678 (GRCm39)	S128L	probably damaging	Het
Col19a1	T	C	1: 24,490,835 (GRCm39)		probably benign	Het
Ctrb1	C	A	8: 112,415,324 (GRCm39)	V117L	probably benign	Het
Dcp2	T	C	18: 44,538,638 (GRCm39)		probably null	Het
Dctn1	C	A	6: 83,176,166 (GRCm39)		probably benign	Het
Dennd11	A	G	6: 40,388,648 (GRCm39)	F238L	probably benign	Het
Ephb3	T	A	16: 21,041,045 (GRCm39)	M701K	possibly damaging	Het
Ero1b	A	G	13: 12,616,648 (GRCm39)	E359G	probably damaging	Het
Exosc8	G	T	3: 54,636,266 (GRCm39)	A255E	probably damaging	Het
Fhip1a	G	A	3: 85,595,838 (GRCm39)	P349L	probably damaging	Het
Fndc3c1	C	T	X: 105,477,128 (GRCm39)	A824T	probably benign	Het
Gja10	G	A	4: 32,601,812 (GRCm39)	Q191*	probably null	Het
Gm1587	C	T	14: 78,036,288 (GRCm39)	R6Q	unknown	Het
Gm3409	A	G	5: 146,476,418 (GRCm39)	I190V	probably benign	Het
Gm4952	G	T	19: 12,600,973 (GRCm39)	M64I	probably damaging	Het
Gramd1b	C	T	9: 40,217,765 (GRCm39)	M595I	possibly damaging	Het
Grik1	C	T	16: 87,848,241 (GRCm39)	V176M	probably damaging	Het
Grin2b	A	G	6: 136,021,044 (GRCm39)	C86R	probably damaging	Het
Gtse1	C	T	15: 85,746,264 (GRCm39)		probably benign	Het
Hectd2	T	C	19: 36,589,719 (GRCm39)	Y615H	probably damaging	Het
Hydin	T	C	8: 111,229,579 (GRCm39)	F1552S	possibly damaging	Het
Ifi207	A	G	1: 173,557,211 (GRCm39)	V516A	possibly damaging	Het
Igfbp5	G	T	1: 72,913,184 (GRCm39)	P39T	probably damaging	Het
Il23r	T	A	6: 67,400,719 (GRCm39)	D537V	possibly damaging	Het
Invs	A	G	4: 48,390,095 (GRCm39)	Y251C	probably damaging	Het
Isl1	G	T	13: 116,444,953 (GRCm39)	H25Q	probably damaging	Het
Kif13a	A	G	13: 46,966,221 (GRCm39)	L399P	probably damaging	Het
Klhl1	A	G	14: 96,584,225 (GRCm39)	V335A	probably benign	Het
Klhl14	C	A	18: 21,784,843 (GRCm39)	A195S	probably damaging	Het
Lepr	A	G	4: 101,639,927 (GRCm39)		probably benign	Het
Map1b	A	C	13: 99,567,454 (GRCm39)	S1756A	unknown	Het
Med23	C	T	10: 24,785,710 (GRCm39)	A877V	probably benign	Het
Mfsd4b2	T	C	10: 39,797,458 (GRCm39)	Y299C	probably damaging	Het
Mipol1	T	A	12: 57,379,205 (GRCm39)	M221K	probably damaging	Het
Muc4	A	T	16: 32,569,350 (GRCm39)	S137C	probably damaging	Het
Mutyh	T	C	4: 116,673,855 (GRCm39)	Y189H	probably damaging	Het
Nabp2	T	C	10: 128,245,182 (GRCm39)	T21A	possibly damaging	Het
Nalf1	T	C	8: 9,820,217 (GRCm39)	T268A	probably benign	Het
Nell1	T	A	7: 50,350,943 (GRCm39)	V530E	possibly damaging	Het
Npc1	G	C	18: 12,346,435 (GRCm39)	P254A	possibly damaging	Het
Nup153	A	G	13: 46,854,502 (GRCm39)	V530A	probably damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or10j5	T	C	1: 172,784,881 (GRCm39)	V173A	probably damaging	Het
Or11h4b	A	G	14: 50,918,872 (GRCm39)	V73A	probably benign	Het
Or7e177	T	C	9: 20,212,354 (GRCm39)	V287A	probably benign	Het
Pabpc1l	T	A	2: 163,874,174 (GRCm39)	I193N	possibly damaging	Het
Pabpc4l	A	G	3: 46,401,066 (GRCm39)	Y193H	probably damaging	Het
Pank1	T	C	19: 34,856,281 (GRCm39)	S66G	probably benign	Het
Pcdhb1	A	T	18: 37,399,233 (GRCm39)	K395*	probably null	Het
Pcna	A	G	2: 132,093,817 (GRCm39)		probably benign	Het
Pgr	T	A	9: 8,903,630 (GRCm39)	Y550*	probably null	Het
Phf11a	A	G	14: 59,519,316 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,151,524 (GRCm39)		probably benign	Het
Pofut2	T	A	10: 77,096,642 (GRCm39)	Y122*	probably null	Het
Pole	A	G	5: 110,475,644 (GRCm39)	M1818V	probably benign	Het
Rapgef3	A	G	15: 97,647,914 (GRCm39)	L696P	probably damaging	Het
Rasal3	T	C	17: 32,616,327 (GRCm39)	D310G	probably damaging	Het
Rhoq	A	G	17: 87,302,486 (GRCm39)	K141E	probably benign	Het
Rilpl1	A	G	5: 124,652,813 (GRCm39)		probably benign	Het
Rnaseh1	T	C	12: 28,703,088 (GRCm39)	S91P	probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Saa1	C	A	7: 46,391,856 (GRCm39)	G31W	probably null	Het
Saxo5	T	A	8: 3,536,947 (GRCm39)	I431K	possibly damaging	Het
Scaf8	A	G	17: 3,218,352 (GRCm39)	T241A	unknown	Het
Scarb2	C	T	5: 92,592,125 (GRCm39)	A473T	possibly damaging	Het
Scnn1b	T	C	7: 121,509,670 (GRCm39)	F273S	probably damaging	Het
Sdccag8	T	C	1: 176,656,536 (GRCm39)	V136A	probably damaging	Het
Sdr16c6	A	T	4: 4,069,926 (GRCm39)	V138E	probably damaging	Het
Sf3a3	G	A	4: 124,615,886 (GRCm39)	A180T	possibly damaging	Het
Slc16a5	T	A	11: 115,360,842 (GRCm39)	S342T	probably damaging	Het
Slc18a1	A	G	8: 69,526,464 (GRCm39)	S75P	probably benign	Het
Slc7a6	T	A	8: 106,920,120 (GRCm39)		probably benign	Het
Smco3	G	A	6: 136,808,845 (GRCm39)	Q10*	probably null	Het
Spem2	T	C	11: 69,708,290 (GRCm39)	Q225R	probably benign	Het
Ssb	G	T	2: 69,697,901 (GRCm39)		probably null	Het
Stx8	T	C	11: 68,000,106 (GRCm39)	I182T	probably damaging	Het
Synj2	T	A	17: 6,040,542 (GRCm39)	I121N	probably damaging	Het
Tbc1d1	T	C	5: 64,502,643 (GRCm39)	Y1055H	probably damaging	Het
Thbs3	G	T	3: 89,125,067 (GRCm39)	R52L	probably damaging	Het
Tmem101	C	T	11: 102,044,222 (GRCm39)	V222I	probably benign	Het
Tnks2	C	T	19: 36,823,068 (GRCm39)	Q112*	probably null	Het
Tnrc6b	T	A	15: 80,764,924 (GRCm39)	W809R	probably damaging	Het
Trib2	T	A	12: 15,865,454 (GRCm39)	R16S	probably damaging	Het
Trim12a	T	C	7: 103,956,331 (GRCm39)	N70D	probably damaging	Het
Trim55	T	A	3: 19,716,046 (GRCm39)		probably null	Het
Tspyl5	T	A	15: 33,687,153 (GRCm39)	D264V	probably damaging	Het
Ttn	A	G	2: 76,555,388 (GRCm39)	V30539A	probably damaging	Het
Tubgcp3	A	G	8: 12,713,988 (GRCm39)	F43S	possibly damaging	Het
Tut7	A	G	13: 59,964,548 (GRCm39)	L209P	probably damaging	Het
Ube3d	A	G	9: 86,305,056 (GRCm39)	L262P	probably damaging	Het
Ugt1a7c	T	C	1: 88,023,651 (GRCm39)	V270A	probably benign	Het
Vav3	T	A	3: 109,413,738 (GRCm39)	F225L	possibly damaging	Het
Vmn1r21	G	T	6: 57,821,077 (GRCm39)	Y122*	probably null	Het
Vmn1r225	C	A	17: 20,723,071 (GRCm39)	Q171K	probably benign	Het
Vmn2r103	T	C	17: 20,032,029 (GRCm39)	V601A	possibly damaging	Het
Vmn2r19	T	A	6: 123,308,589 (GRCm39)	N555K	probably damaging	Het
Vps33a	G	A	5: 123,696,684 (GRCm39)	A323V	probably benign	Het
Wdr77	C	T	3: 105,874,618 (GRCm39)	P337S	probably benign	Het
Wnk1	A	T	6: 119,929,884 (GRCm39)	I93N	probably damaging	Het
Zbtb9	T	A	17: 27,193,612 (GRCm39)	I339N	probably damaging	Het
Zfp202	T	A	9: 40,121,083 (GRCm39)	D241E	probably damaging	Het
Zfp235	T	A	7: 23,840,563 (GRCm39)	Y327*	probably null	Het
Zfp820	A	C	17: 22,038,316 (GRCm39)	D337E	probably benign	Het
Zfp944	T	C	17: 22,560,065 (GRCm39)	T14A	probably damaging	Het
Zfy1	A	G	Y: 729,733 (GRCm39)	V303A	unknown	Het
Zfyve26	C	T	12: 79,286,744 (GRCm39)	W2281*	probably null	Het

Other mutations in Dclk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TCTACAGAAATGGTGACCGCTAC -3'
(R):5'- TCCGCTCGGGATTTGATATC -3'

Sequencing Primer
(F):5'- TGGTGACCGCTACTTCAAAG -3'
(R):5'- CCTGCTATTATTAAGGGCTACTGGC -3'

Posted On

2014-07-14