Mutagenetix > Incidental Mutation

Incidental Mutation 'R1479:Dclk3'

164206

Institutional Source

Beutler Lab

Gene Symbol

Dclk3

Ensembl Gene

ENSMUSG00000032500

Gene Name

doublecortin-like kinase 3

Synonyms

Dcamkl3, Click-I, -II related

MMRRC Submission

039532-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R1479 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

111268149-111318186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111297614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 386 (S386N)

Ref Sequence

ENSEMBL: ENSMUSP00000107510 (fasta)

Gene Model

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

AlphaFold

Q8BWQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000111879
AA Change: S386N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107510
Gene: ENSMUSG00000032500
AA Change: S386N

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (81/84)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	T	A	9: 50,652,601 (GRCm39)	T58S	possibly damaging	Het
Alox12e	A	G	11: 70,211,608 (GRCm39)	V252A	probably benign	Het
Anks6	T	C	4: 47,044,874 (GRCm39)	D344G	probably damaging	Het
Atg14	A	T	14: 47,784,696 (GRCm39)		probably null	Het
Bcr	G	T	10: 74,896,957 (GRCm39)	E34*	probably null	Het
Birc6	C	T	17: 74,941,848 (GRCm39)	T2728M	probably damaging	Het
Bmp2k	T	A	5: 97,201,059 (GRCm39)	N326K	probably benign	Het
Brme1	C	A	8: 84,889,026 (GRCm39)	T123K	possibly damaging	Het
Ccdc188	A	C	16: 18,037,154 (GRCm39)	T242P	possibly damaging	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cdin1	T	A	2: 115,469,494 (GRCm39)	N74K	probably benign	Het
Chsy3	A	T	18: 59,541,985 (GRCm39)	E374D	probably benign	Het
Clca4b	A	T	3: 144,621,229 (GRCm39)	V615E	probably damaging	Het
Clcnka	C	A	4: 141,116,758 (GRCm39)	A498S	possibly damaging	Het
Csmd3	A	G	15: 47,721,282 (GRCm39)	C1450R	probably damaging	Het
Cul7	C	A	17: 46,962,673 (GRCm39)	D101E	probably damaging	Het
Cyp27b1	G	A	10: 126,887,580 (GRCm39)		probably null	Het
Cyp2d22	A	G	15: 82,256,137 (GRCm39)	S404P	probably damaging	Het
Dnah10	G	A	5: 124,854,953 (GRCm39)	D1953N	possibly damaging	Het
Dst	T	A	1: 34,303,596 (GRCm39)		probably null	Het
Egfem1	A	G	3: 29,711,314 (GRCm39)	N241D	probably damaging	Het
Entpd7	T	C	19: 43,710,279 (GRCm39)	F312S	probably damaging	Het
Esp34	T	A	17: 38,865,219 (GRCm39)		probably benign	Het
Foxd2	T	A	4: 114,765,115 (GRCm39)	T302S	unknown	Het
Fzd6	A	T	15: 38,894,394 (GRCm39)	N187Y	probably damaging	Het
Gbp9	C	T	5: 105,241,930 (GRCm39)		probably benign	Het
Gna14	T	C	19: 16,511,133 (GRCm39)	S61P	possibly damaging	Het
Grap	A	T	11: 61,551,124 (GRCm39)	Y52F	probably benign	Het
H2-T3	T	C	17: 36,500,320 (GRCm39)	Y125C	probably damaging	Het
Hax1	C	A	3: 89,903,164 (GRCm39)	E212D	probably damaging	Het
Hecw1	A	C	13: 14,491,077 (GRCm39)	S638R	probably benign	Het
Hira	A	T	16: 18,715,219 (GRCm39)	K39M	probably damaging	Het
Hoxa2	T	A	6: 52,140,320 (GRCm39)	D222V	probably damaging	Het
Hycc2	T	A	1: 58,591,427 (GRCm39)	R91*	probably null	Het
Jph2	C	T	2: 163,181,191 (GRCm39)	V658M	possibly damaging	Het
Kansl1	A	T	11: 104,233,242 (GRCm39)	S762T	probably damaging	Het
Kat6b	T	A	14: 21,669,024 (GRCm39)	C267S	probably benign	Het
Klk6	A	G	7: 43,481,058 (GRCm39)	N250S	probably benign	Het
Lbp	T	C	2: 158,161,634 (GRCm39)	L232S	probably damaging	Het
Lcn9	A	T	2: 25,713,715 (GRCm39)		probably benign	Het
Lcp2	A	G	11: 34,025,068 (GRCm39)	H213R	probably benign	Het
Lrrc9	A	T	12: 72,507,599 (GRCm39)	K367*	probably null	Het
Lyst	A	G	13: 13,809,067 (GRCm39)	I246V	probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mst1r	T	C	9: 107,790,544 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,733,020 (GRCm39)	E909G	probably benign	Het
Nipbl	A	T	15: 8,379,773 (GRCm39)	D1006E	probably benign	Het
Or4k5	C	A	14: 50,386,245 (GRCm39)	V29F	probably benign	Het
Or5d37	A	G	2: 87,923,630 (GRCm39)	F217L	probably benign	Het
Or8d1b	A	T	9: 38,887,058 (GRCm39)	I29F	probably benign	Het
Otog	A	G	7: 45,945,402 (GRCm39)	I2220V	possibly damaging	Het
Pcx	T	A	19: 4,652,052 (GRCm39)	I99N	probably damaging	Het
Pi4ka	C	T	16: 17,191,264 (GRCm39)	G211D	probably benign	Het
Pp2d1	T	C	17: 53,814,883 (GRCm39)	S614G	probably benign	Het
Prdx6	G	A	1: 161,071,833 (GRCm39)	A111V	probably damaging	Het
Prorp	T	A	12: 55,426,172 (GRCm39)	D138E	probably damaging	Het
Prss51	G	A	14: 64,333,619 (GRCm39)		probably null	Het
Psmd6	C	T	14: 14,116,819 (GRCm38)		probably benign	Het
Pten	T	A	19: 32,797,250 (GRCm39)	L345Q	probably damaging	Het
Qrich2	T	G	11: 116,332,311 (GRCm39)	H2295P	probably benign	Het
Rgs11	T	C	17: 26,427,257 (GRCm39)		probably null	Het
Rgs6	A	G	12: 83,163,018 (GRCm39)	E408G	probably damaging	Het
Septin4	G	T	11: 87,458,244 (GRCm39)	R206L	probably damaging	Het
Slc38a7	T	C	8: 96,575,122 (GRCm39)	T53A	probably benign	Het
Spata31g1	A	C	4: 42,972,543 (GRCm39)	K625N	possibly damaging	Het
Sptbn1	A	G	11: 30,063,909 (GRCm39)	C1957R	probably damaging	Het
Sumf1	T	C	6: 108,153,019 (GRCm39)	Y123C	probably damaging	Het
Tnrc6b	T	A	15: 80,771,233 (GRCm39)		probably null	Het
Ttc21a	C	A	9: 119,786,013 (GRCm39)	D670E	probably benign	Het
Ttn	A	G	2: 76,574,855 (GRCm39)	V25346A	probably damaging	Het
Ubr4	A	G	4: 139,153,151 (GRCm39)	T2070A	possibly damaging	Het
Vmn2r57	C	A	7: 41,077,254 (GRCm39)	W304L	possibly damaging	Het
Vps13a	T	C	19: 16,727,478 (GRCm39)		probably benign	Het
Zfp647	A	G	15: 76,795,403 (GRCm39)	V419A	possibly damaging	Het

Other mutations in Dclk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02027:Dclk3	APN	9	111,296,911 (GRCm39)	nonsense	probably null
IGL02125:Dclk3	APN	9	111,298,175 (GRCm39)	missense	probably damaging	1.00
IGL02547:Dclk3	APN	9	111,298,091 (GRCm39)	missense	probably damaging	1.00
IGL03393:Dclk3	APN	9	111,317,741 (GRCm39)	utr 3 prime	probably benign
G1citation:Dclk3	UTSW	9	111,268,405 (GRCm39)	missense	probably benign	0.03
IGL02984:Dclk3	UTSW	9	111,317,643 (GRCm39)	missense	probably damaging	1.00
R0109:Dclk3	UTSW	9	111,296,738 (GRCm39)	missense	possibly damaging	0.93
R0109:Dclk3	UTSW	9	111,296,738 (GRCm39)	missense	possibly damaging	0.93
R0238:Dclk3	UTSW	9	111,311,696 (GRCm39)	missense	probably damaging	0.99
R0238:Dclk3	UTSW	9	111,311,696 (GRCm39)	missense	probably damaging	0.99
R0432:Dclk3	UTSW	9	111,314,003 (GRCm39)	missense	probably damaging	1.00
R0440:Dclk3	UTSW	9	111,298,231 (GRCm39)	missense	probably damaging	1.00
R0530:Dclk3	UTSW	9	111,311,789 (GRCm39)	missense	probably damaging	1.00
R1024:Dclk3	UTSW	9	111,298,138 (GRCm39)	missense	possibly damaging	0.95
R1443:Dclk3	UTSW	9	111,298,088 (GRCm39)	missense	probably benign	0.01
R1474:Dclk3	UTSW	9	111,298,304 (GRCm39)	missense	probably benign	0.43
R1482:Dclk3	UTSW	9	111,296,888 (GRCm39)	missense	possibly damaging	0.90
R1543:Dclk3	UTSW	9	111,297,122 (GRCm39)	missense	probably benign	0.04
R1552:Dclk3	UTSW	9	111,317,647 (GRCm39)	missense	probably damaging	1.00
R1559:Dclk3	UTSW	9	111,298,276 (GRCm39)	missense	probably damaging	1.00
R2011:Dclk3	UTSW	9	111,297,422 (GRCm39)	missense	probably benign	0.00
R2369:Dclk3	UTSW	9	111,317,610 (GRCm39)	missense	probably benign	0.16
R4111:Dclk3	UTSW	9	111,298,148 (GRCm39)	missense	probably damaging	0.99
R4510:Dclk3	UTSW	9	111,297,060 (GRCm39)	missense	probably benign	0.01
R4511:Dclk3	UTSW	9	111,297,060 (GRCm39)	missense	probably benign	0.01
R4592:Dclk3	UTSW	9	111,296,963 (GRCm39)	missense	probably damaging	1.00
R4604:Dclk3	UTSW	9	111,298,253 (GRCm39)	missense	probably damaging	1.00
R4857:Dclk3	UTSW	9	111,297,716 (GRCm39)	missense	probably benign
R4932:Dclk3	UTSW	9	111,297,110 (GRCm39)	missense	possibly damaging	0.56
R5045:Dclk3	UTSW	9	111,296,856 (GRCm39)	missense	probably damaging	0.99
R5233:Dclk3	UTSW	9	111,297,749 (GRCm39)	missense	probably benign
R5338:Dclk3	UTSW	9	111,298,127 (GRCm39)	missense	possibly damaging	0.95
R5463:Dclk3	UTSW	9	111,298,328 (GRCm39)	missense	probably benign	0.26
R6822:Dclk3	UTSW	9	111,268,405 (GRCm39)	missense	probably benign	0.03
R6995:Dclk3	UTSW	9	111,296,768 (GRCm39)	missense	possibly damaging	0.88
R7187:Dclk3	UTSW	9	111,314,064 (GRCm39)	missense	probably damaging	1.00
R7532:Dclk3	UTSW	9	111,296,596 (GRCm39)	missense	probably benign	0.03
R7534:Dclk3	UTSW	9	111,297,286 (GRCm39)	missense	probably benign
R7734:Dclk3	UTSW	9	111,298,163 (GRCm39)	missense	probably damaging	1.00
R8326:Dclk3	UTSW	9	111,296,602 (GRCm39)	missense	probably damaging	0.96
R8372:Dclk3	UTSW	9	111,314,081 (GRCm39)	missense	probably damaging	0.98
R8388:Dclk3	UTSW	9	111,311,813 (GRCm39)	missense	probably damaging	1.00
R8423:Dclk3	UTSW	9	111,297,787 (GRCm39)	missense	possibly damaging	0.93
R8493:Dclk3	UTSW	9	111,297,215 (GRCm39)	missense	probably benign	0.06
R9013:Dclk3	UTSW	9	111,297,566 (GRCm39)	missense	probably benign	0.31
R9114:Dclk3	UTSW	9	111,317,683 (GRCm39)	missense	probably benign	0.06
R9338:Dclk3	UTSW	9	111,268,373 (GRCm39)	missense	unknown
R9412:Dclk3	UTSW	9	111,311,819 (GRCm39)	critical splice donor site	probably null
R9701:Dclk3	UTSW	9	111,298,244 (GRCm39)	missense	probably damaging	1.00
R9776:Dclk3	UTSW	9	111,298,226 (GRCm39)	missense	probably damaging	1.00
R9802:Dclk3	UTSW	9	111,298,244 (GRCm39)	missense	probably damaging	1.00
X0020:Dclk3	UTSW	9	111,314,143 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCAGGAGGAGACTCATGCAAGTG -3'
(R):5'- TCATCTTCATGGCGTAAGCCTGC -3'

Sequencing Primer
(F):5'- CTCATGCAAGTGGAGAGAAACATC -3'
(R):5'- ATTCCTTCACGGTGGCAAAG -3'

Posted On

2014-03-28