Mutagenetix > Incidental Mutation

Incidental Mutation 'R2280:Dcdc5'

243020

Institutional Source

Beutler Lab

Gene Symbol

Dcdc5

Ensembl Gene

ENSMUSG00000074981

Gene Name

doublecortin domain containing 5

Synonyms

4732421G10Rik, EG436559

MMRRC Submission

040279-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R2280 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105833674-106236496 bp(+) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

G to A at 106202867 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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,654,955 (GRCm39)	N2698S	probably damaging	Het
Ankrd37	T	C	8: 46,452,413 (GRCm39)	T19A	probably benign	Het
Anks1b	A	C	10: 90,802,164 (GRCm39)	K353N	probably damaging	Het
Ano3	T	A	2: 110,513,104 (GRCm39)	E630D	probably benign	Het
Ap3b1	A	G	13: 94,664,724 (GRCm39)	M888V	unknown	Het
Apoh	T	A	11: 108,300,006 (GRCm39)	Y218*	probably null	Het
Arhgef19	G	A	4: 140,973,827 (GRCm39)	G105S	probably benign	Het
Brd7	A	G	8: 89,069,385 (GRCm39)	S437P	probably benign	Het
Cacna2d4	A	T	6: 119,327,002 (GRCm39)	Q1089L	possibly damaging	Het
Ccdc168	T	A	1: 44,095,620 (GRCm39)	H1826L	possibly damaging	Het
Ccser1	A	T	6: 61,547,799 (GRCm39)	M49L	probably damaging	Het
Cep170	A	T	1: 176,602,071 (GRCm39)	V345E	probably benign	Het
Chaf1b	T	G	16: 93,688,459 (GRCm39)	Y185D	probably damaging	Het
Clasp1	C	T	1: 118,492,913 (GRCm39)	P1153S	probably benign	Het
Clvs2	A	T	10: 33,404,496 (GRCm39)	I240N	probably damaging	Het
Cox8c	A	T	12: 102,865,713 (GRCm39)	H30L	possibly damaging	Het
Crtac1	G	A	19: 42,272,006 (GRCm39)	L646F	unknown	Het
Cyp46a1	T	C	12: 108,321,730 (GRCm39)	S319P	probably damaging	Het
Ddx4	T	C	13: 112,757,190 (GRCm39)	I377V	probably benign	Het
Dis3l	T	A	9: 64,225,076 (GRCm39)	N407I	possibly damaging	Het
Dysf	A	C	6: 84,041,476 (GRCm39)	T161P	probably damaging	Het
Ecsit	C	T	9: 21,987,836 (GRCm39)	V68I	possibly damaging	Het
Ei24	A	G	9: 36,693,635 (GRCm39)		probably null	Het
Fbxl19	A	T	7: 127,347,540 (GRCm39)	D32V	possibly damaging	Het
Fgd5	G	A	6: 91,965,926 (GRCm39)	V562M	possibly damaging	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Frem2	A	G	3: 53,479,844 (GRCm39)	C1950R	probably damaging	Het
Fryl	T	C	5: 73,198,707 (GRCm39)	D2640G	possibly damaging	Het
Ganab	T	C	19: 8,886,832 (GRCm39)	V306A	probably damaging	Het
Gbx2	A	T	1: 89,858,359 (GRCm39)	V40D	probably damaging	Het
Gcc2	C	A	10: 58,105,502 (GRCm39)	T210K	probably benign	Het
Gcn1	T	A	5: 115,750,789 (GRCm39)	M1991K	probably damaging	Het
Gpr18	T	A	14: 122,150,017 (GRCm39)	T3S	probably benign	Het
Herc2	A	C	7: 55,787,019 (GRCm39)	K1621N	possibly damaging	Het
Hspg2	A	G	4: 137,249,354 (GRCm39)	E1300G	probably damaging	Het
Krtap19-5	C	T	16: 88,693,231 (GRCm39)	C27Y	unknown	Het
Lrrc3b	A	T	14: 15,358,076 (GRCm38)	L177M	probably damaging	Het
Mthfd1	T	C	12: 76,327,266 (GRCm39)	I118T	probably benign	Het
Ncoa4-ps	A	G	12: 119,226,573 (GRCm39)		noncoding transcript	Het
Nphp4	A	G	4: 152,641,500 (GRCm39)	K1094E	possibly damaging	Het
Npy1r	C	T	8: 67,156,711 (GRCm39)	L44F	possibly damaging	Het
Or10aa1	C	A	1: 173,870,087 (GRCm39)	S190R	probably benign	Het
Pcx	C	A	19: 4,654,571 (GRCm39)	R328S	probably damaging	Het
Pde6a	T	C	18: 61,395,505 (GRCm39)	Y583H	probably damaging	Het
Pip5k1b	T	A	19: 24,356,311 (GRCm39)	Y209F	probably damaging	Het
Plch2	A	T	4: 155,068,766 (GRCm39)	S1182T	probably damaging	Het
Pum1	A	T	4: 130,493,322 (GRCm39)	I696F	probably damaging	Het
Pxdn	T	C	12: 30,034,905 (GRCm39)	V254A	probably damaging	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rsph4a	A	T	10: 33,787,595 (GRCm39)	I584L	probably benign	Het
Scamp5	A	G	9: 57,352,722 (GRCm39)	V149A	probably benign	Het
Sike1	A	G	3: 102,904,694 (GRCm39)	H134R	possibly damaging	Het
Slc12a9	A	G	5: 137,330,474 (GRCm39)	L77P	probably damaging	Het
Spmap2l	T	C	5: 77,207,214 (GRCm39)	I324T	probably damaging	Het
Taar7f	G	A	10: 23,925,417 (GRCm39)	A4T	probably benign	Het
Tmem216	T	A	19: 10,529,237 (GRCm39)	T104S	probably damaging	Het
Tpsg1	C	T	17: 25,593,016 (GRCm39)	R94C	probably damaging	Het
Utp20	A	T	10: 88,661,365 (GRCm39)		probably null	Het
Wdr35	A	G	12: 9,028,628 (GRCm39)	Q82R	probably benign	Het
Zfp12	A	G	5: 143,231,248 (GRCm39)	Y525C	probably damaging	Het
Zfp532	T	C	18: 65,757,783 (GRCm39)	V572A	probably damaging	Het
Zfyve26	T	A	12: 79,321,814 (GRCm39)	Q935L	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
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
R6313:Dcdc5	UTSW	2	106,198,516 (GRCm39)	critical splice donor site	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- TTCAACTCACCAGAGCAGCTTC -3'
(R):5'- AAGGTGTTAGTGCTTTGCAAAG -3'

Sequencing Primer
(F):5'- GCTTCCAAAATCTACACCAGAGATGG -3'
(R):5'- TACCAAAGTGGCTGGCTA -3'

Posted On

2014-10-16