Mutagenetix > Incidental Mutation

Incidental Mutation 'R2153:Dclk1'

234481

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

040156-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.693) question?

Stock #

R2153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55149785-55446489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55154633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 21 (Y21C)

Ref Sequence

ENSEMBL: ENSMUSP00000143659 (fasta)

Gene Model

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

AlphaFold

Q9JLM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000054237
AA Change: Y21C

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050034
Gene: ENSMUSG00000027797
AA Change: Y21C

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

possibly damaging
Transcript: ENSMUST00000167204
AA Change: Y21C

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129334
Gene: ENSMUSG00000027797
AA Change: Y21C

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 damaging
Transcript: ENSMUST00000196745
AA Change: Y21C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143659
Gene: ENSMUSG00000027797
AA Change: Y21C

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
AA Change: Y21C

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000143672
Gene: ENSMUSG00000027797
AA Change: Y21C

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,959 (GRCm39)	E363G	probably benign	Het
Abcg2	T	A	6: 58,661,307 (GRCm39)		probably null	Het
Adgrg7	T	G	16: 56,572,791 (GRCm39)	I342L	possibly damaging	Het
Akap6	A	C	12: 53,188,187 (GRCm39)	D1867A	probably benign	Het
Ankrd17	A	T	5: 90,381,918 (GRCm39)	V2416D	probably damaging	Het
Apaf1	A	G	10: 90,883,952 (GRCm39)	V670A	probably damaging	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Atad5	T	A	11: 79,997,203 (GRCm39)	D842E	probably benign	Het
Brd10	T	C	19: 29,694,229 (GRCm39)	M1755V	probably benign	Het
Capns1	A	G	7: 29,891,765 (GRCm39)	L124P	probably damaging	Het
Carmil1	A	G	13: 24,325,656 (GRCm39)	S225P	probably damaging	Het
Cars2	C	T	8: 11,580,299 (GRCm39)	A247T	possibly damaging	Het
Cd46	A	G	1: 194,744,721 (GRCm39)	I339T	probably benign	Het
Ceacam14	C	A	7: 17,548,153 (GRCm39)	T81N	probably benign	Het
Ceacam16	G	A	7: 19,595,066 (GRCm39)	P4L	probably benign	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cntnap5c	A	T	17: 58,362,666 (GRCm39)	I340L	possibly damaging	Het
Col2a1	C	A	15: 97,885,461 (GRCm39)	A461S	unknown	Het
Comtd1	T	C	14: 21,898,340 (GRCm39)	E27G	possibly damaging	Het
Cyp2a12	A	G	7: 26,732,042 (GRCm39)	N261S	probably benign	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dlg5	A	T	14: 24,187,225 (GRCm39)	I1819N	probably damaging	Het
Elp1	T	A	4: 56,779,636 (GRCm39)		probably null	Het
Enpep	T	C	3: 129,074,231 (GRCm39)	N772S	probably damaging	Het
Erich1	T	C	8: 14,128,773 (GRCm39)	T56A	probably benign	Het
Ermp1	T	C	19: 29,614,798 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,803,545 (GRCm39)	E807G	probably benign	Het
Fat4	A	T	3: 39,037,544 (GRCm39)	Y3732F	probably damaging	Het
Fbxw18	T	G	9: 109,522,438 (GRCm39)	T144P	probably damaging	Het
Flywch1	A	T	17: 23,974,624 (GRCm39)	I672K	probably benign	Het
Foxk2	C	A	11: 121,151,213 (GRCm39)	A86E	probably benign	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gda	A	G	19: 21,374,869 (GRCm39)		probably null	Het
Gna15	T	C	10: 81,338,738 (GRCm39)	Y367C	probably damaging	Het
Golga3	A	G	5: 110,335,856 (GRCm39)		probably null	Het
Greb1	T	C	12: 16,749,533 (GRCm39)	S1098G	probably damaging	Het
Hook3	C	A	8: 26,560,225 (GRCm39)	L333F	probably damaging	Het
Il6	C	T	5: 30,218,502 (GRCm39)	Q33*	probably null	Het
Iqgap1	T	C	7: 80,401,701 (GRCm39)	E468G	probably benign	Het
Iqgap1	A	G	7: 80,409,651 (GRCm39)	I228T	possibly damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,278,861 (GRCm39)	I371F	probably damaging	Het
Kcnj10	A	T	1: 172,197,455 (GRCm39)	Y323F	possibly damaging	Het
Klk1b5	T	C	7: 43,869,322 (GRCm39)		probably null	Het
Lmo7	A	G	14: 102,157,951 (GRCm39)		probably benign	Het
Loxhd1	A	T	18: 77,443,862 (GRCm39)	T277S	possibly damaging	Het
Lrp5	A	T	19: 3,664,339 (GRCm39)	M796K	probably benign	Het
Med15	A	T	16: 17,503,315 (GRCm39)		probably null	Het
Mfn1	T	A	3: 32,596,975 (GRCm39)	H144Q	probably damaging	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Nmi	T	C	2: 51,842,555 (GRCm39)	E179G	probably damaging	Het
Nrxn2	T	C	19: 6,554,944 (GRCm39)	I1141T	probably damaging	Het
Olah	T	C	2: 3,366,306 (GRCm39)	S9G	probably benign	Het
Or1m1	T	C	9: 18,666,391 (GRCm39)	D180G	probably damaging	Het
Or4c106	C	A	2: 88,683,128 (GRCm39)	P278H	probably damaging	Het
Or5b120	T	G	19: 13,479,852 (GRCm39)	I48M	probably damaging	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Or8k22	A	C	2: 86,162,872 (GRCm39)	F276C	probably damaging	Het
Otog	T	A	7: 45,952,328 (GRCm39)	C2591S	probably damaging	Het
Pdgfrb	G	T	18: 61,205,828 (GRCm39)	V605F	probably damaging	Het
Pik3cb	T	A	9: 98,983,297 (GRCm39)	K104*	probably null	Het
Plb1	T	A	5: 32,471,433 (GRCm39)	I580N	probably damaging	Het
Plekha2	T	C	8: 25,578,413 (GRCm39)	Y29C	probably damaging	Het
Plekha7	T	A	7: 115,775,002 (GRCm39)	Y213F	probably damaging	Het
Plin5	T	C	17: 56,423,836 (GRCm39)	D33G	probably benign	Het
Pnpla2	C	A	7: 141,039,132 (GRCm39)	Q371K	probably damaging	Het
Ppm1n	A	G	7: 19,012,110 (GRCm39)	Y348H	probably damaging	Het
Ppp2r1b	T	A	9: 50,777,854 (GRCm39)	D266E	probably damaging	Het
Prss23	A	G	7: 89,159,119 (GRCm39)	S317P	probably damaging	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Pum1	G	T	4: 130,478,802 (GRCm39)	A571S	probably damaging	Het
Rexo1	G	T	10: 80,379,943 (GRCm39)	C13*	probably null	Het
Rhpn1	A	T	15: 75,576,243 (GRCm39)	M1L	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripk2	A	G	4: 16,132,775 (GRCm39)		probably null	Het
Rps6kc1	T	C	1: 190,530,920 (GRCm39)	Y937C	probably damaging	Het
Rrbp1	A	G	2: 143,796,118 (GRCm39)	L1200P	possibly damaging	Het
Ryr2	A	G	13: 11,592,759 (GRCm39)	I4665T	possibly damaging	Het
Sbno1	C	A	5: 124,516,606 (GRCm39)	V1256F	probably benign	Het
Senp5	T	C	16: 31,787,692 (GRCm39)	I644V	probably damaging	Het
Serpinb9e	T	A	13: 33,436,961 (GRCm39)	F94I	probably damaging	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Sned1	T	A	1: 93,202,379 (GRCm39)	D674E	probably benign	Het
Sorl1	T	C	9: 41,895,788 (GRCm39)	H1789R	probably benign	Het
Sp2	T	C	11: 96,852,834 (GRCm39)	D30G	possibly damaging	Het
Stk33	T	A	7: 108,940,527 (GRCm39)	N61I	probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Tbcd	A	G	11: 121,494,457 (GRCm39)	Q1006R	possibly damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tnfrsf21	A	G	17: 43,398,763 (GRCm39)	D623G	probably damaging	Het
Trib2	A	G	12: 15,843,830 (GRCm39)	F271L	probably damaging	Het
Ttn	A	G	2: 76,810,477 (GRCm39)	V17A	probably benign	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Yeats2	T	A	16: 19,972,916 (GRCm39)	D23E	probably damaging	Het
Zan	T	A	5: 137,434,662 (GRCm39)	I2214F	unknown	Het
Zbtb40	T	C	4: 136,718,946 (GRCm39)	D917G	probably damaging	Het
Zcchc2	C	A	1: 105,949,453 (GRCm39)		probably null	Het
Zdhhc23	G	T	16: 43,794,282 (GRCm39)	Q131K	probably benign	Het
Zfp345	T	C	2: 150,314,578 (GRCm39)	T320A	probably benign	Het
Zfp532	A	G	18: 65,757,998 (GRCm39)	T644A	possibly damaging	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
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
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'- AGGCTGTTACCAATGAGATGTG -3'
(R):5'- TCTGGGGAGATGGCATACAC -3'

Sequencing Primer
(F):5'- ATTCTCTCCCACTCCACAACC -3'
(R):5'- GGGAGATGGCATACACAATTCCTTTG -3'

Posted On

2014-10-01