Mutagenetix > Incidental Mutations

Incidental Mutation 'R7187:Dclk3'

559369

Institutional Source

Beutler Lab

Gene Symbol

Dclk3

Ensembl Gene

ENSMUSG00000032500

Gene Name

doublecortin-like kinase 3

Synonyms

Click-I, -II related, Dcamkl3

MMRRC Submission

Accession Numbers

Genbank: NM_172928; MGI: 3039580

Is this an essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

R7187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111439081-111489118 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111484996 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 713 (S713R)

Ref Sequence

ENSEMBL: ENSMUSP00000107510 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111879
AA Change: S713R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107510
Gene: ENSMUSG00000032500
AA Change: S713R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,437,721	Y716C	probably damaging	Het
Abcc1	A	G	16: 14,466,997	I1237V	probably benign	Het
Adam34	C	T	8: 43,652,528	A27T	probably benign	Het
Aff3	T	C	1: 38,218,397	S415G	probably damaging	Het
Ak7	T	C	12: 105,745,273	Y390H	probably benign	Het
Arap2	A	C	5: 62,669,053	M1056R	probably damaging	Het
Brf1	T	C	12: 112,960,325	Y676C	unknown	Het
Cachd1	T	A	4: 100,976,355	H776Q	possibly damaging	Het
Cacng7	T	C	7: 3,336,667	V28A	probably damaging	Het
Camk2g	A	T	14: 20,742,712	D359E	probably benign	Het
Cd209b	T	C	8: 3,926,638	D16G	probably benign	Het
Ceacam5	A	G	7: 17,759,485	E811G	possibly damaging	Het
Cecr2	T	A	6: 120,756,686	S545T	probably benign	Het
Cep55	T	C	19: 38,060,358		probably null	Het
Ctif	C	A	18: 75,637,219	V32L	probably damaging	Het
Cwc27	G	A	13: 104,661,392	A353V	probably benign	Het
Dlec1	C	T	9: 119,112,146	H255Y	probably benign	Het
Dlgap1	A	G	17: 70,516,098	H26R	possibly damaging	Het
Dydc1	C	T	14: 41,078,094	T19I	possibly damaging	Het
Efcab12	G	A	6: 115,823,513	P183L	not run	Het
Eri3	C	A	4: 117,589,146	Q219K	probably benign	Het
Fam135a	A	G	1: 24,044,214	L310P	probably damaging	Het
Fgd5	T	A	6: 91,988,291	S502T	possibly damaging	Het
Fgf8	A	G	19: 45,741,667	S57P	probably benign	Het
Gls	T	C	1: 52,219,980	E154G	probably damaging	Het
Gm21319	T	C	12: 87,773,938		probably benign	Het
Gm28042	T	C	2: 120,039,695	L705P	probably damaging	Het
Golgb1	C	A	16: 36,916,150	Q1961K	probably benign	Het
Herc3	C	A	6: 58,856,631	Q168K	probably benign	Het
Il31ra	C	A	13: 112,546,311	C168F	probably benign	Het
Ino80	A	T	2: 119,426,591	D860E	probably benign	Het
Iqcm	T	G	8: 75,753,416	L334R	probably benign	Het
Lrrk2	A	G	15: 91,757,001	D1587G	possibly damaging	Het
Map4	T	A	9: 110,053,133	V355E	probably benign	Het
Mapk13	T	A	17: 28,776,387	I194N	probably damaging	Het
Mtus2	A	G	5: 148,076,705	T103A	probably benign	Het
Naglu	G	T	11: 101,070,332	G70W	probably benign	Het
Nlrp4f	A	T	13: 65,195,387	M126K	possibly damaging	Het
Olfr1225	T	C	2: 89,171,370		probably benign	Het
Olfr485	A	T	7: 108,159,378	V165E	probably benign	Het
Pdia4	T	C	6: 47,813,259	T16A	unknown	Het
Pou6f2	G	A	13: 18,239,713	A159V		Het
Ripor1	A	G	8: 105,617,874	T547A	probably benign	Het
Rundc3b	A	G	5: 8,492,506	S389P	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spats2	T	C	15: 99,212,173	S484P	probably benign	Het
Supv3l1	G	A	10: 62,435,549	T403I	probably damaging	Het
Tacstd2	G	A	6: 67,535,196	R171W	probably damaging	Het
Taok2	A	T	7: 126,872,380	F542L	probably damaging	Het
Tbc1d31	T	A	15: 57,938,063	N331K	possibly damaging	Het
Tff2	A	T	17: 31,142,226	C118S	probably damaging	Het
Tmprss7	G	A	16: 45,677,954	T354I	possibly damaging	Het
Tmtc3	A	T	10: 100,477,912	F33I	probably damaging	Het
Tpbpa	G	A	13: 60,940,585		probably benign	Het
Ube3a	G	T	7: 59,275,905	V165F	probably benign	Het
Vmn2r4	T	G	3: 64,415,260	T13P	probably benign	Het
Wnt8b	A	G	19: 44,511,682	D236G	probably benign	Het
Ythdf3	C	A	3: 16,204,287	D210E	probably benign	Het
Zfp110	T	A	7: 12,849,826	Y800*	probably null	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
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
R4592:Dclk3	UTSW	9	111467895	missense	probably damaging	1.00
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
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
X0020:Dclk3	UTSW	9	111485075	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGTCACTGGTCCAGTTCCA -3'
(R):5'- GTTGAGTACCAATCAAACTTCACC -3'

Sequencing Primer
(F):5'- TAGGCTCACATTCAACTGGG -3'
(R):5'- GAGTACCAATCAAACTTCACCCACAC -3'

Posted On

2019-06-26