Mutagenetix > Incidental Mutation

Incidental Mutation 'R6313:Dcdc5'

510503

Institutional Source

Beutler Lab

Gene Symbol

Dcdc5

Ensembl Gene

ENSMUSG00000074981

Gene Name

doublecortin domain containing 5

Synonyms

4732421G10Rik, EG436559

MMRRC Submission

044470-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R6313 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105833674-106236496 bp(+) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

T to C at 106198516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152776

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. Alternatively spliced transcript variants encoding distinct isoforms have been found, but the full-length nature of some variants is not determined. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,126,344 (GRCm39)	F1167L	probably damaging	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Acaca	C	T	11: 84,183,755 (GRCm39)	T32I	probably benign	Het
Adam6a	A	T	12: 113,508,670 (GRCm39)	N348Y	possibly damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arhgef38	T	C	3: 132,940,469 (GRCm39)	D39G	possibly damaging	Het
Arid5b	T	C	10: 67,933,412 (GRCm39)	D587G	possibly damaging	Het
Brwd1	A	G	16: 95,809,141 (GRCm39)	V1963A	probably benign	Het
Ccdc136	T	A	6: 29,410,204 (GRCm39)	L34Q	probably damaging	Het
Cdh2	T	C	18: 16,907,579 (GRCm39)	Q53R	probably benign	Het
Celsr2	G	A	3: 108,308,530 (GRCm39)	S1799L	probably damaging	Het
Cenpe	A	G	3: 134,935,936 (GRCm39)	E457G	probably benign	Het
Cmtm1	A	T	8: 105,031,795 (GRCm39)	M283K	possibly damaging	Het
Decr1	T	A	4: 15,924,261 (GRCm39)	M220L	probably benign	Het
Dgkg	T	G	16: 22,338,311 (GRCm39)	D592A	probably damaging	Het
Dkkl1	T	C	7: 44,860,862 (GRCm39)	Q39R	probably benign	Het
Dyrk1a	T	A	16: 94,460,373 (GRCm39)	C10S	possibly damaging	Het
Efcab2	A	T	1: 178,308,936 (GRCm39)	E146D	probably benign	Het
Efhc1	T	C	1: 21,049,652 (GRCm39)	V504A	possibly damaging	Het
Ermard	T	G	17: 15,273,467 (GRCm39)		probably null	Het
Espl1	T	C	15: 102,224,247 (GRCm39)	V1266A	probably benign	Het
Fbxw22	A	C	9: 109,232,465 (GRCm39)	V40G	probably damaging	Het
Gm3629	A	T	14: 17,834,409 (GRCm39)	I194N	possibly damaging	Het
Gnai2	C	T	9: 107,497,296 (GRCm39)	V33M	possibly damaging	Het
H2-DMb1	T	C	17: 34,376,506 (GRCm39)		probably null	Het
Hc	T	C	2: 34,879,851 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,861,921 (GRCm39)	S491P	probably damaging	Het
Knl1	T	A	2: 118,899,799 (GRCm39)	L500H	probably damaging	Het
Lamb1	A	T	12: 31,319,146 (GRCm39)	T102S	probably damaging	Het
Lrrc7	A	G	3: 157,866,373 (GRCm39)	S1123P	probably damaging	Het
Mettl5	C	A	2: 69,702,071 (GRCm39)		probably null	Het
Mmp11	A	G	10: 75,759,818 (GRCm39)	*4R	probably null	Het
Myom1	A	T	17: 71,389,483 (GRCm39)	D911V	probably benign	Het
Nid1	A	G	13: 13,638,367 (GRCm39)	T96A	probably benign	Het
Nlrp4e	G	T	7: 23,052,597 (GRCm39)	V839L	probably benign	Het
Notch3	A	T	17: 32,370,128 (GRCm39)		probably null	Het
Or8k35	T	C	2: 86,424,411 (GRCm39)	T254A	possibly damaging	Het
Pcdh8	T	C	14: 80,005,091 (GRCm39)	H978R	probably benign	Het
Pde8b	A	T	13: 95,178,508 (GRCm39)	C537*	probably null	Het
Polr1b	T	C	2: 128,967,366 (GRCm39)	F920L	probably damaging	Het
Polr2f	A	G	15: 79,035,573 (GRCm39)	T87A	probably damaging	Het
Pon2	T	A	6: 5,272,421 (GRCm39)	H133L	probably damaging	Het
Pou2af2	C	T	9: 51,201,481 (GRCm39)	D192N	probably damaging	Het
Ptk2b	T	A	14: 66,416,280 (GRCm39)	E205V	probably damaging	Het
Rb1cc1	T	A	1: 6,314,357 (GRCm39)	M343K	probably benign	Het
Rlf	G	A	4: 121,005,807 (GRCm39)	R1058W	probably damaging	Het
S100z	T	A	13: 95,615,082 (GRCm39)	K28*	probably null	Het
Scarf1	T	A	11: 75,411,141 (GRCm39)	N273K	probably benign	Het
Setd2	A	G	9: 110,385,434 (GRCm39)	I136M	unknown	Het
Sfrp2	A	G	3: 83,674,291 (GRCm39)	D148G	probably benign	Het
Slc24a4	A	G	12: 102,220,769 (GRCm39)	E400G	probably benign	Het
Slc2a9	T	G	5: 38,610,464 (GRCm39)	I112L	probably benign	Het
Smc5	A	T	19: 23,186,312 (GRCm39)	Y972*	probably null	Het
Sntg1	T	C	1: 8,515,248 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,129,470 (GRCm39)	N1180S	probably benign	Het
Stag1	A	G	9: 100,639,786 (GRCm39)	D114G	probably damaging	Het
Suclg1	T	C	6: 73,233,192 (GRCm39)	S46P	probably damaging	Het
Synj1	C	T	16: 90,743,703 (GRCm39)	A1186T	probably benign	Het
Tas2r124	A	G	6: 132,732,410 (GRCm39)	T240A	probably benign	Het
Tax1bp1	T	C	6: 52,721,341 (GRCm39)		probably null	Het
Tchh	C	A	3: 93,355,158 (GRCm39)	Q1533K	unknown	Het
Tmprss15	T	C	16: 78,759,058 (GRCm39)	T887A	probably benign	Het
Ttn	T	C	2: 76,536,937 (GRCm39)	I34963V	probably benign	Het
Unc79	G	A	12: 103,078,878 (GRCm39)	G1485D	probably damaging	Het
Usp9y	G	T	Y: 1,385,355 (GRCm39)	H633N	probably benign	Homo
Vmn2r99	A	T	17: 19,602,867 (GRCm39)	N541Y	probably damaging	Het
Zbtb11	T	A	16: 55,810,854 (GRCm39)	N337K	probably benign	Het
Zfp260	T	A	7: 29,804,267 (GRCm39)	C56S	possibly damaging	Het
Zfp457	C	T	13: 67,440,746 (GRCm39)	E610K	probably damaging	Het

Other mutations in Dcdc5

Allele	Source	Chr	Coord	Type	Predicted Effect
R0017:Dcdc5	UTSW	2	106,187,541 (GRCm39)	splice site	noncoding transcript
R0017:Dcdc5	UTSW	2	106,187,541 (GRCm39)	splice site	noncoding transcript
R0544:Dcdc5	UTSW	2	106,181,909 (GRCm39)	exon	noncoding transcript
R0563:Dcdc5	UTSW	2	106,180,035 (GRCm39)	exon	noncoding transcript
R1456:Dcdc5	UTSW	2	106,181,910 (GRCm39)	exon	noncoding transcript
R1476:Dcdc5	UTSW	2	106,188,977 (GRCm39)	exon	noncoding transcript
R1521:Dcdc5	UTSW	2	106,182,014 (GRCm39)	critical splice donor site	noncoding transcript
R1555:Dcdc5	UTSW	2	106,214,480 (GRCm39)	exon	noncoding transcript
R2280:Dcdc5	UTSW	2	106,202,867 (GRCm39)	critical splice donor site	noncoding transcript
R2304:Dcdc5	UTSW	2	106,166,488 (GRCm39)	critical splice donor site	noncoding transcript
R3775:Dcdc5	UTSW	2	106,202,738 (GRCm39)	exon	noncoding transcript
R4820:Dcdc5	UTSW	2	106,166,420 (GRCm39)	exon	noncoding transcript
R4874:Dcdc5	UTSW	2	106,198,451 (GRCm39)	exon	noncoding transcript
R4910:Dcdc5	UTSW	2	106,195,895 (GRCm39)	exon	noncoding transcript
R5285:Dcdc5	UTSW	2	106,198,500 (GRCm39)	exon	noncoding transcript
R5583:Dcdc5	UTSW	2	106,195,778 (GRCm39)	exon	noncoding transcript
R5634:Dcdc5	UTSW	2	106,234,325 (GRCm39)	exon	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- TGGAAGCATCTCTCCTCCTG -3'
(R):5'- ATTCACATCAAAGGCTGGACAG -3'

Sequencing Primer
(F):5'- GTAGGGATACTGTTGCCTCTCAC -3'
(R):5'- GGCTGGACAGAACTATTAAAAGAC -3'

Posted On

2018-04-02