Mutagenetix > Incidental Mutations

Incidental Mutation 'R4592:Dclk3'

342910

Institutional Source

Beutler Lab

Gene Symbol

Dclk3

Ensembl Gene

ENSMUSG00000032500

Gene Name

doublecortin-like kinase 3

Synonyms

Click-I, -II related, Dcamkl3

MMRRC Submission

041808-MU

Accession Numbers

Genbank: NM_172928; MGI: 3039580

Is this an essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R4592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111439081-111489118 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111467895 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 169 (F169S)

Ref Sequence

ENSEMBL: ENSMUSP00000107510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111879]

Predicted Effect

probably damaging
Transcript: ENSMUST00000111879
AA Change: F169S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107510
Gene: ENSMUSG00000032500
AA Change: F169S

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
Pfam:DCX	115	177	2.9e-17	PFAM
low complexity region	200	218	N/A	INTRINSIC
low complexity region	267	277	N/A	INTRINSIC
low complexity region	479	496	N/A	INTRINSIC
S_TKc	514	771	1.63e-110	SMART

Meta Mutation Damage Score

0.1557

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: This gene encodes a member of the protein kinase superfamily and the doublecortin family. Differently from the other two closely related family members (DCLK1 and DCLK2), the protein encoded by this gene contains only one N-terminal doublecortin domain and is unable to bind microtubules and to regulate microtubule polymerization. The protein contains a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmoduline-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. [provided by RefSeq, Sep 2010]

Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	G	11: 97,771,615	S144P	probably damaging	Het
4933430I17Rik	T	A	4: 62,538,927	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,546,709	V521A	possibly damaging	Het
Atrn	T	C	2: 130,999,130		probably benign	Het
Casp12	T	C	9: 5,352,923		probably benign	Het
Ccdc189	C	T	7: 127,585,491	R172H	probably benign	Het
Cenpf	G	A	1: 189,679,033	T318M	probably damaging	Het
Clcn2	T	C	16: 20,709,142	K525E	probably damaging	Het
Cntln	A	G	4: 84,971,182	T301A	probably benign	Het
Crat	T	C	2: 30,415,366		probably benign	Het
Cul5	A	G	9: 53,633,727		probably benign	Het
Cxcl14	A	T	13: 56,295,895	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,771,394	I487V	probably benign	Het
Cyp4a10	T	A	4: 115,529,493	F446I	probably damaging	Het
D430041D05Rik	T	A	2: 104,233,479	M659L	possibly damaging	Het
Ddx52	T	C	11: 83,957,480	I532T	probably damaging	Het
Dnm1	T	C	2: 32,336,011	D352G	probably damaging	Het
Eif4g2	T	C	7: 111,078,302	E174G	probably damaging	Het
Enpp6	G	T	8: 47,093,032	V386L	probably damaging	Het
Eps15l1	T	C	8: 72,341,394	D904G	probably damaging	Het
Esrrb	A	G	12: 86,518,830	Y356C	probably damaging	Het
Flt3	A	T	5: 147,354,699	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,858,902	C716S	probably damaging	Het
Gm10125	T	C	18: 5,525,375		noncoding transcript	Het
Gm26996	T	A	6: 130,579,485		noncoding transcript	Het
Grik2	A	T	10: 49,422,615	F50I	possibly damaging	Het
Guf1	T	C	5: 69,566,443	V367A	possibly damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ifnar2	T	C	16: 91,391,796	V55A	probably benign	Het
Impg1	T	A	9: 80,440,854	I33F	probably benign	Het
Ltbp4	A	C	7: 27,325,183	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,918,290	L529H	probably damaging	Het
Negr1	T	C	3: 157,208,386		probably benign	Het
Neurog3	A	G	10: 62,133,820	T25A	probably damaging	Het
Olfr1241	T	A	2: 89,482,756	K126N	probably damaging	Het
Olfr1420	T	C	19: 11,896,762	V247A	probably benign	Het
Olfr181	T	C	16: 58,926,092	T160A	probably benign	Het
Olfr555	A	C	7: 102,659,478	Y219S	probably damaging	Het
Pax8	T	A	2: 24,443,189		probably benign	Het
Pcsk6	A	C	7: 65,931,732	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,459,216	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,925,259		probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rptor	A	G	11: 119,798,840	D321G	probably null	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Sdccag3	C	A	2: 26,388,897		probably benign	Het
Skp1a	T	C	11: 52,243,619	I59T	possibly damaging	Het
Slc23a3	T	G	1: 75,128,556	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,592,804	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,036,060	A472V	probably damaging	Het
Srsf6	T	C	2: 162,931,723	I18T	probably damaging	Het
Stom	C	T	2: 35,323,746	G80D	probably damaging	Het
Svep1	A	T	4: 58,084,028	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,173,400	V449I	probably benign	Het
Triobp	C	T	15: 78,967,095	A483V	probably benign	Het
Vdac1	G	A	11: 52,374,972		probably null	Het
Vmn2r75	T	G	7: 86,166,286	E123D	probably benign	Het
Vmn2r79	T	A	7: 87,004,111	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,306,591	N1376K	possibly damaging	Het

Other mutations in Dclk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02027:Dclk3	APN	9	111467843	nonsense	probably null
IGL02125:Dclk3	APN	9	111469107	missense	probably damaging	1.00
IGL02547:Dclk3	APN	9	111469023	missense	probably damaging	1.00
IGL03393:Dclk3	APN	9	111488673	utr 3 prime	probably benign
G1citation:Dclk3	UTSW	9	111439337	missense	probably benign	0.03
IGL02984:Dclk3	UTSW	9	111488575	missense	probably damaging	1.00
R0109:Dclk3	UTSW	9	111467670	missense	possibly damaging	0.93
R0109:Dclk3	UTSW	9	111467670	missense	possibly damaging	0.93
R0238:Dclk3	UTSW	9	111482628	missense	probably damaging	0.99
R0238:Dclk3	UTSW	9	111482628	missense	probably damaging	0.99
R0432:Dclk3	UTSW	9	111484935	missense	probably damaging	1.00
R0440:Dclk3	UTSW	9	111469163	missense	probably damaging	1.00
R0530:Dclk3	UTSW	9	111482721	missense	probably damaging	1.00
R1024:Dclk3	UTSW	9	111469070	missense	possibly damaging	0.95
R1443:Dclk3	UTSW	9	111469020	missense	probably benign	0.01
R1474:Dclk3	UTSW	9	111469236	missense	probably benign	0.43
R1479:Dclk3	UTSW	9	111468546	missense	probably benign
R1482:Dclk3	UTSW	9	111467820	missense	possibly damaging	0.90
R1543:Dclk3	UTSW	9	111468054	missense	probably benign	0.04
R1552:Dclk3	UTSW	9	111488579	missense	probably damaging	1.00
R1559:Dclk3	UTSW	9	111469208	missense	probably damaging	1.00
R2011:Dclk3	UTSW	9	111468354	missense	probably benign	0.00
R2369:Dclk3	UTSW	9	111488542	missense	probably benign	0.16
R4111:Dclk3	UTSW	9	111469080	missense	probably damaging	0.99
R4510:Dclk3	UTSW	9	111467992	missense	probably benign	0.01
R4511:Dclk3	UTSW	9	111467992	missense	probably benign	0.01
R4604:Dclk3	UTSW	9	111469185	missense	probably damaging	1.00
R4857:Dclk3	UTSW	9	111468648	missense	probably benign
R4932:Dclk3	UTSW	9	111468042	missense	possibly damaging	0.56
R5045:Dclk3	UTSW	9	111467788	missense	probably damaging	0.99
R5233:Dclk3	UTSW	9	111468681	missense	probably benign
R5338:Dclk3	UTSW	9	111469059	missense	possibly damaging	0.95
R5463:Dclk3	UTSW	9	111469260	missense	probably benign	0.26
R6822:Dclk3	UTSW	9	111439337	missense	probably benign	0.03
R6995:Dclk3	UTSW	9	111467700	missense	possibly damaging	0.88
R7187:Dclk3	UTSW	9	111484996	missense	probably damaging	1.00
R7532:Dclk3	UTSW	9	111467528	missense	probably benign	0.03
R7534:Dclk3	UTSW	9	111468218	missense	probably benign
R7734:Dclk3	UTSW	9	111469095	missense	probably damaging	1.00
R8326:Dclk3	UTSW	9	111467534	missense	probably damaging	0.96
R8372:Dclk3	UTSW	9	111485013	missense	probably damaging	0.98
R8388:Dclk3	UTSW	9	111482745	missense	probably damaging	1.00
R8423:Dclk3	UTSW	9	111468719	missense	possibly damaging	0.93
R8493:Dclk3	UTSW	9	111468147	missense	probably benign	0.06
X0020:Dclk3	UTSW	9	111485075	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCTGAGAGAAAGCTGCCAGG -3'
(R):5'- ACAGCGGTGACTTCCTTTC -3'

Sequencing Primer
(F):5'- TGTTCAGCCCTCAGAGCAG -3'
(R):5'- GCGGTGACTTCCTTTCAGAAGC -3'

Posted On

2015-09-24