Mutagenetix > Incidental Mutation

Incidental Mutation 'R5364:Dclk1'

422976

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

042942-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.670) question?

Stock #

R5364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55149785-55446489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 55163366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 153 (N153H)

Ref Sequence

ENSEMBL: ENSMUSP00000050034 (fasta)

Gene Model

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

AlphaFold

Q9JLM8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054237
AA Change: N153H

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050034
Gene: ENSMUSG00000027797
AA Change: N153H

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: N153H

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000129334
Gene: ENSMUSG00000027797
AA Change: N153H

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: N153H

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143659
Gene: ENSMUSG00000027797
AA Change: N153H

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

Meta Mutation Damage Score

0.0727

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.3%

Validation Efficiency

100% (102/102)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,278,192 (GRCm39)	T242R	probably damaging	Het
Abcc10	G	A	17: 46,616,577 (GRCm39)	R1205C	probably benign	Het
Acer1	A	G	17: 57,289,000 (GRCm39)	F37L	probably damaging	Het
Acp7	C	A	7: 28,310,448 (GRCm39)	G463V	probably benign	Het
Actr2	A	T	11: 20,050,797 (GRCm39)		probably benign	Het
Adam15	A	T	3: 89,252,902 (GRCm39)	I272K	probably damaging	Het
Adam1b	T	A	5: 121,638,946 (GRCm39)	I700F	possibly damaging	Het
Adam33	A	G	2: 130,896,392 (GRCm39)		probably null	Het
Ano1	T	C	7: 144,190,941 (GRCm39)	Y380C	probably damaging	Het
Arfgap3	A	C	15: 83,198,562 (GRCm39)	M307R	probably damaging	Het
Arhgap21	T	A	2: 20,854,533 (GRCm39)	R1610W	probably damaging	Het
Bbs2	A	G	8: 94,801,023 (GRCm39)	Y603H	probably benign	Het
Bbs9	G	T	9: 22,486,492 (GRCm39)		probably null	Het
Bcar3	A	C	3: 122,323,281 (GRCm39)	M779L	probably benign	Het
Bub3	A	T	7: 131,162,467 (GRCm39)	N10I	possibly damaging	Het
Cacna1c	T	G	6: 118,633,504 (GRCm39)	E1098D	probably benign	Het
Cacna1g	T	A	11: 94,307,684 (GRCm39)	M1738L	probably benign	Het
Camk2d	G	T	3: 126,574,069 (GRCm39)	G159C	probably damaging	Het
Ccdc51	A	T	9: 108,921,188 (GRCm39)	E358D	possibly damaging	Het
Cdc42bpa	A	G	1: 179,894,747 (GRCm39)	D309G	probably benign	Het
Cdhr3	A	T	12: 33,101,007 (GRCm39)	F468I	possibly damaging	Het
Chrd	A	G	16: 20,551,898 (GRCm39)	M1V	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Dcdc2b	T	C	4: 129,502,963 (GRCm39)	Y253C	probably damaging	Het
Dgkg	G	T	16: 22,419,211 (GRCm39)	S96R	probably benign	Het
Dnah9	A	G	11: 65,772,522 (GRCm39)	Y3737H	possibly damaging	Het
Elovl4	A	T	9: 83,672,076 (GRCm39)	I81N	probably benign	Het
Epha7	T	A	4: 28,950,557 (GRCm39)	Y791N	probably damaging	Het
Fam193a	C	A	5: 34,623,597 (GRCm39)	T1395N	probably benign	Het
Fbln5	A	T	12: 101,737,623 (GRCm39)	V141E	probably damaging	Het
Flii	T	C	11: 60,610,954 (GRCm39)	T492A	probably benign	Het
Fnip2	A	G	3: 79,388,475 (GRCm39)	I752T	probably benign	Het
Fpr3	T	C	17: 18,190,806 (GRCm39)	W26R	probably benign	Het
Gabrb1	A	T	5: 72,294,105 (GRCm39)	T460S	probably benign	Het
Gde1	T	C	7: 118,297,874 (GRCm39)	N4S	probably benign	Het
Ghitm	G	T	14: 36,847,156 (GRCm39)	T306K	probably benign	Het
Ghitm	A	T	14: 36,847,174 (GRCm39)	I300N	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Iqcd	T	C	5: 120,738,332 (GRCm39)	I50T	probably damaging	Het
Itpripl1	G	A	2: 126,983,739 (GRCm39)	P128S	possibly damaging	Het
Jag2	C	A	12: 112,874,154 (GRCm39)	L1000F	probably damaging	Het
Klhdc4	A	T	8: 122,533,375 (GRCm39)		probably benign	Het
Klra5	A	G	6: 129,876,316 (GRCm39)	F164L	probably benign	Het
Larp1b	A	G	3: 40,931,658 (GRCm39)	Y288C	probably damaging	Het
Lrfn3	T	A	7: 30,055,078 (GRCm39)	E622D	possibly damaging	Het
Lyst	A	G	13: 13,831,439 (GRCm39)	D1621G	probably benign	Het
Mastl	T	C	2: 23,023,665 (GRCm39)	T353A	probably benign	Het
Mkln1	T	C	6: 31,473,647 (GRCm39)	Y130H	probably damaging	Het
Mms22l	T	A	4: 24,496,882 (GRCm39)		probably benign	Het
Mroh7	T	A	4: 106,548,840 (GRCm39)	M1008L	probably benign	Het
Nipal1	T	C	5: 72,825,243 (GRCm39)	V312A	probably damaging	Het
Nlrp5	T	A	7: 23,117,753 (GRCm39)	Y492*	probably null	Het
Odad1	T	A	7: 45,585,756 (GRCm39)	I105N	probably damaging	Het
Or1n1	T	C	2: 36,750,006 (GRCm39)	Y118C	probably damaging	Het
Otulinl	G	A	15: 27,660,031 (GRCm39)	Q24*	probably null	Het
Pcdhb11	T	A	18: 37,555,232 (GRCm39)	D187E	probably benign	Het
Pcdhb13	A	G	18: 37,576,561 (GRCm39)	Y313C	probably damaging	Het
Pdpn	G	A	4: 143,000,526 (GRCm39)	T102I	possibly damaging	Het
Pear1	A	T	3: 87,665,668 (GRCm39)	C120S	probably damaging	Het
Peg10	T	C	6: 4,756,128 (GRCm39)		probably benign	Het
Ppm1e	A	G	11: 87,128,007 (GRCm39)	W384R	probably benign	Het
Ppp1r10	C	T	17: 36,241,324 (GRCm39)	P700S	unknown	Het
Prl2c5	G	A	13: 13,357,627 (GRCm39)	R13K	probably benign	Het
Prmt3	C	A	7: 49,498,554 (GRCm39)	P487T	probably damaging	Het
Proser3	C	A	7: 30,245,573 (GRCm39)	A144S	possibly damaging	Het
Ptcd1	G	A	5: 145,088,241 (GRCm39)	T590I	probably damaging	Het
Rbsn	A	G	6: 92,170,958 (GRCm39)	V321A	probably damaging	Het
Slc40a1	C	A	1: 45,964,383 (GRCm39)	C14F	probably damaging	Het
Slc6a15	T	C	10: 103,229,369 (GRCm39)	I136T	probably damaging	Het
Slc7a4	A	G	16: 17,391,227 (GRCm39)	I449T	probably benign	Het
Snrnp48	T	A	13: 38,394,165 (GRCm39)		probably null	Het
Tada2a	A	G	11: 84,011,973 (GRCm39)	Y23H	probably benign	Het
Tbx15	A	T	3: 99,259,508 (GRCm39)	S460C	possibly damaging	Het
Tbx21	C	T	11: 96,992,304 (GRCm39)		probably null	Het
Tmcc2	T	G	1: 132,285,534 (GRCm39)	T376P	probably damaging	Het
Tmco4	G	A	4: 138,779,815 (GRCm39)	C420Y	probably damaging	Het
Tmem235	C	A	11: 117,755,020 (GRCm39)	Y157*	probably null	Het
Tmem63b	T	C	17: 45,975,653 (GRCm39)		probably benign	Het
Tnfrsf1a	T	C	6: 125,334,356 (GRCm39)	S92P	possibly damaging	Het
Top3b	A	T	16: 16,704,834 (GRCm39)	T397S	probably benign	Het
Trabd	C	A	15: 88,967,007 (GRCm39)		probably benign	Het
Trbv21	A	T	6: 41,179,764 (GRCm39)	I27L	possibly damaging	Het
Trim3	C	T	7: 105,268,276 (GRCm39)	V169M	probably damaging	Het
Ttn	T	C	2: 76,807,458 (GRCm39)	T92A	probably damaging	Het
Ttn	C	T	2: 76,738,860 (GRCm39)	S3893N	probably benign	Het
Uchl4	A	T	9: 64,142,821 (GRCm39)	I101F	possibly damaging	Het
Vmn1r5	T	A	6: 56,962,583 (GRCm39)	M86K	probably damaging	Het
Vmn2r55	T	A	7: 12,404,830 (GRCm39)	Q191L	possibly damaging	Het
Zfp458	A	T	13: 67,406,012 (GRCm39)	C139*	probably null	Het
Zfp788	T	C	7: 41,299,551 (GRCm39)	L729P	probably damaging	Het
Zmym2	T	A	14: 57,158,102 (GRCm39)	M547K	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
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
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'- ACGCCAGTCTGTATAAGAAGTGAG -3'
(R):5'- CCGTCTTCTTGTTCAGCAGG -3'

Sequencing Primer
(F):5'- CCATTGATTTGAAAAGCATAGGC -3'
(R):5'- TTCAGCAGGATTCTGACAGC -3'

Posted On

2016-08-04