Mutagenetix > Incidental Mutation

Incidental Mutation 'R3689:Dcx'

269699

Institutional Source

Beutler Lab

Gene Symbol

Dcx

Ensembl Gene

ENSMUSG00000031285

Gene Name

doublecortin

Synonyms

lissencephaly, X-linked (doublecortin), Dbct

MMRRC Submission

040684-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.436) question?

Stock #

R3689 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

142638838-142716307 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142660240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 268 (E268G)

Ref Sequence

ENSEMBL: ENSMUSP00000108477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033642] [ENSMUST00000087313] [ENSMUST00000112851] [ENSMUST00000112856]

AlphaFold

O88809

Predicted Effect

probably benign
Transcript: ENSMUST00000033642
AA Change: E268G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000033642
Gene: ENSMUSG00000031285
AA Change: E268G

Domain	Start	End	E-Value	Type
DCX	48	139	3.09e-48	SMART
DCX	175	263	2.69e-39	SMART
low complexity region	349	365	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000087313
AA Change: E268G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000084570
Gene: ENSMUSG00000031285
AA Change: E268G

Domain	Start	End	E-Value	Type
DCX	48	139	3.09e-48	SMART
DCX	175	263	2.69e-39	SMART
low complexity region	349	365	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112851
AA Change: E268G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108472
Gene: ENSMUSG00000031285
AA Change: E268G

Domain	Start	End	E-Value	Type
DCX	48	139	3.09e-48	SMART
DCX	175	263	2.69e-39	SMART
low complexity region	348	364	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112856
AA Change: E268G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108477
Gene: ENSMUSG00000031285
AA Change: E268G

Domain	Start	End	E-Value	Type
DCX	48	139	3.09e-48	SMART
DCX	175	263	2.69e-39	SMART
low complexity region	343	359	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139920

Meta Mutation Damage Score

0.0599

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase. Studies in knockout mice lacking this gene and the LIS1 gene suggest that the molecular interaction of these two genes is important in both in neuronal migration and neurogenesis, and there is a cortical role of this gene in nuclear translocation and positioning of the mitotic spindle in radial glial mitotic division. Multiple transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Males hemizygous for a null allele are fertile but show branching and nucleokinesis defects in migrating interneurons. Males hemizygous for a reporter allele show severe postnatal lethality and variable fertility; both female and male mutants display hippocampal dyslamination and behavioral defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	T	13: 68,779,088 (GRCm39)	L984Q	probably damaging	Het
Atg16l1	T	C	1: 87,713,626 (GRCm39)	V427A	probably damaging	Het
Bclaf1	C	T	10: 20,201,143 (GRCm39)	T423I	possibly damaging	Het
Blm	G	C	7: 80,162,827 (GRCm39)	P175A	possibly damaging	Het
Bpifb1	A	G	2: 154,051,819 (GRCm39)	D208G	probably benign	Het
Cdc42ep1	T	C	15: 78,731,629 (GRCm39)	S25P	probably benign	Het
Cep162	G	A	9: 87,107,747 (GRCm39)	Q548*	probably null	Het
Chchd10	T	C	10: 75,771,835 (GRCm39)		probably benign	Het
Cog3	T	C	14: 75,991,878 (GRCm39)	M1V	probably null	Het
Erich2	T	C	2: 70,371,097 (GRCm39)	V419A	unknown	Het
Fam53c	A	G	18: 34,903,886 (GRCm39)	D386G	probably damaging	Het
Fgd2	A	G	17: 29,597,924 (GRCm39)	T620A	probably benign	Het
G930045G22Rik	A	T	6: 50,823,535 (GRCm39)		noncoding transcript	Het
Grpel1	G	A	5: 36,626,769 (GRCm39)		probably null	Het
Map3k15	T	A	X: 158,905,568 (GRCm39)	N1295K	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mrpl44	T	A	1: 79,757,366 (GRCm39)	Y270*	probably null	Het
Mtss1	A	G	15: 58,825,385 (GRCm39)	S272P	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
N4bp1	C	T	8: 87,587,184 (GRCm39)	D585N	probably damaging	Het
Napb	T	C	2: 148,544,977 (GRCm39)		probably null	Het
Nexmif	A	T	X: 103,131,213 (GRCm39)	Y235N	probably damaging	Het
Niban1	A	G	1: 151,579,447 (GRCm39)		probably null	Het
Nms	T	C	1: 38,986,075 (GRCm39)		probably benign	Het
Nsun2	A	G	13: 69,760,456 (GRCm39)	N45D	probably damaging	Het
Or4c116	T	A	2: 88,942,386 (GRCm39)	I157L	possibly damaging	Het
Pak6	C	T	2: 118,523,921 (GRCm39)	Q359*	probably null	Het
Pcdhb12	C	T	18: 37,569,127 (GRCm39)	A91V	probably benign	Het
Pde11a	T	A	2: 76,121,510 (GRCm39)	K357I	probably damaging	Het
Piwil4	T	C	9: 14,637,259 (GRCm39)	T352A	probably damaging	Het
Plscr1l1	A	C	9: 92,234,673 (GRCm39)	N60T	probably damaging	Het
Sec31a	T	A	5: 100,530,766 (GRCm39)	D239V	probably damaging	Het
Slc13a4	T	C	6: 35,245,845 (GRCm39)	N600S	possibly damaging	Het
Smc1b	T	A	15: 85,001,464 (GRCm39)		probably benign	Het
Spatc1	A	T	15: 76,152,495 (GRCm39)	K42*	probably null	Het
Sprr2j-ps	A	G	3: 92,326,290 (GRCm39)	H55R	probably benign	Het
Srsf9	A	G	5: 115,465,387 (GRCm39)	D7G	probably benign	Het
Stt3a	T	C	9: 36,670,618 (GRCm39)	Y51C	probably damaging	Het
Taf5	A	G	19: 47,067,224 (GRCm39)	K519E	probably damaging	Het
Taf7l	A	T	X: 133,365,074 (GRCm39)	I449K	probably damaging	Het
Tnk1	C	A	11: 69,746,425 (GRCm39)	D263Y	probably damaging	Het
Ttc21b	T	A	2: 66,054,488 (GRCm39)	I714F	probably benign	Het
Ttn	C	G	2: 76,629,588 (GRCm39)	W14284C	probably damaging	Het
Txn1	T	C	4: 57,950,846 (GRCm39)	D61G	probably benign	Het
Ugcg	T	C	4: 59,211,883 (GRCm39)	V83A	probably benign	Het
Ulk3	T	C	9: 57,501,077 (GRCm39)	V348A	probably benign	Het
Wdr93	A	G	7: 79,421,333 (GRCm39)	T409A	possibly damaging	Het
Wfikkn1	A	G	17: 26,097,692 (GRCm39)	C211R	probably damaging	Het
Zap70	T	C	1: 36,820,493 (GRCm39)	C563R	probably damaging	Het
Zc3h12c	C	T	9: 52,027,256 (GRCm39)	R721H	probably benign	Het
Zfp169	A	G	13: 48,660,377 (GRCm39)		probably benign	Het

Other mutations in Dcx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Dcx	APN	X	142,714,150 (GRCm39)	missense	possibly damaging	0.96
R1913:Dcx	UTSW	X	142,706,099 (GRCm39)	missense	probably damaging	1.00
R2897:Dcx	UTSW	X	142,706,428 (GRCm39)	splice site	probably benign
R3080:Dcx	UTSW	X	142,706,266 (GRCm39)	missense	probably damaging	1.00
R3115:Dcx	UTSW	X	142,706,105 (GRCm39)	missense	probably damaging	1.00
R3690:Dcx	UTSW	X	142,660,240 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- AAGTTTCATGTAGTGTGAAGGCTTC -3'
(R):5'- TGTGAAGTTGTGCCCCTTGAC -3'

Sequencing Primer
(F):5'- CTGGGAGATTGAGTTGACATATCAC -3'
(R):5'- GAAGTTGTGCCCCTTGACAACATATG -3'

Posted On

2015-02-19