Mutagenetix > Incidental Mutation

Incidental Mutation 'R1913:Dcx'

214642

Institutional Source

Beutler Lab

Gene Symbol

Dcx

Ensembl Gene

ENSMUSG00000031285

Gene Name

doublecortin

Synonyms

lissencephaly, X-linked (doublecortin), Dbct

MMRRC Submission

039931-MU

Accession Numbers

Essential gene?

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

Stock #

R1913 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

142638838-142716307 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 142706099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 231 (L231V)

Ref Sequence

ENSEMBL: ENSMUSP00000108477 (fasta)

Gene Model

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

AlphaFold

O88809

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033642
AA Change: L231V

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033642
Gene: ENSMUSG00000031285
AA Change: L231V

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

possibly damaging
Transcript: ENSMUST00000087313
AA Change: L231V

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000084570
Gene: ENSMUSG00000031285
AA Change: L231V

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

possibly damaging
Transcript: ENSMUST00000112851
AA Change: L231V

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108472
Gene: ENSMUSG00000031285
AA Change: L231V

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

probably damaging
Transcript: ENSMUST00000112856
AA Change: L231V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108477
Gene: ENSMUSG00000031285
AA Change: L231V

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

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,140,463 (GRCm39)	I1588F	probably benign	Het
Abcc2	A	T	19: 43,795,683 (GRCm39)	T480S	probably benign	Het
Acnat1	A	G	4: 49,447,498 (GRCm39)	I361T	probably damaging	Het
Adamts10	A	T	17: 33,768,529 (GRCm39)	H869L	probably benign	Het
Agpat5	T	C	8: 18,929,629 (GRCm39)	C253R	probably benign	Het
Agtrap	T	A	4: 148,168,434 (GRCm39)	H15L	probably damaging	Het
Ahnak	T	A	19: 8,985,286 (GRCm39)	V2190E	probably damaging	Het
Alx4	A	G	2: 93,505,732 (GRCm39)	E278G	probably damaging	Het
Amz2	T	C	11: 109,319,697 (GRCm39)	S28P	probably damaging	Het
Atr	T	A	9: 95,748,786 (GRCm39)	Y444N	probably benign	Het
Brdt	T	C	5: 107,496,479 (GRCm39)	I197T	probably benign	Het
Ccser1	G	T	6: 62,356,878 (GRCm39)	S772I	probably damaging	Het
Cdh16	T	C	8: 105,343,100 (GRCm39)	H657R	probably benign	Het
Ceacam5	A	T	7: 17,493,502 (GRCm39)	K842*	probably null	Het
Cep120	G	A	18: 53,856,358 (GRCm39)	T353I	probably benign	Het
Chrnb1	T	C	11: 69,684,410 (GRCm39)	N164S	possibly damaging	Het
Cse1l	T	C	2: 166,764,111 (GRCm39)	F123L	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dnah12	T	C	14: 26,514,221 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,355,756 (GRCm39)	M2227K	probably damaging	Het
Dnajc30	G	A	5: 135,093,186 (GRCm39)	A28T	probably benign	Het
Dnm1l	T	C	16: 16,147,830 (GRCm39)	T306A	probably benign	Het
Elapor2	T	G	5: 9,316,275 (GRCm39)	L2R	probably damaging	Het
Enpp3	C	A	10: 24,652,669 (GRCm39)	E763*	probably null	Het
Esyt3	T	C	9: 99,202,364 (GRCm39)	S516G	probably benign	Het
Exoc3	T	C	13: 74,330,435 (GRCm39)	Q498R	probably damaging	Het
Fbn2	T	A	18: 58,194,814 (GRCm39)	N1449I	probably damaging	Het
Fgb	T	C	3: 82,952,287 (GRCm39)	D194G	probably benign	Het
Fgd3	T	C	13: 49,417,324 (GRCm39)	D713G	possibly damaging	Het
Foxb1	T	A	9: 69,667,383 (GRCm39)	Y49F	possibly damaging	Het
Fpr3	A	G	17: 18,191,670 (GRCm39)	I314V	probably damaging	Het
Gfod1	A	T	13: 43,456,921 (GRCm39)	I18N	probably damaging	Het
Gm5407	T	C	16: 49,117,283 (GRCm39)		noncoding transcript	Het
Gpr89	A	G	3: 96,782,949 (GRCm39)	F334L	possibly damaging	Het
Gucy2d	G	T	7: 98,093,054 (GRCm39)	V144F	probably benign	Het
H2-M10.5	C	A	17: 37,085,660 (GRCm39)	P273H	probably damaging	Het
H2-T13	T	A	17: 36,391,908 (GRCm39)	K237M	probably damaging	Het
Hcn2	A	G	10: 79,566,777 (GRCm39)	M485V	probably benign	Het
Helz2	G	T	2: 180,875,543 (GRCm39)	S1650R	probably damaging	Het
Ifnar2	T	C	16: 91,201,058 (GRCm39)	V433A	probably benign	Het
Igsf21	T	A	4: 139,834,623 (GRCm39)	Y83F	probably benign	Het
Kcnk18	A	G	19: 59,223,490 (GRCm39)	I212V	possibly damaging	Het
Kcns2	T	C	15: 34,839,855 (GRCm39)	I406T	probably damaging	Het
Krt42	C	T	11: 100,158,075 (GRCm39)	V166M	possibly damaging	Het
Lama3	T	C	18: 12,628,336 (GRCm39)	M1476T	probably benign	Het
Lcor	A	G	19: 41,546,913 (GRCm39)	R166G	probably benign	Het
Mapt	C	T	11: 104,218,901 (GRCm39)	P354L	probably damaging	Het
Mep1b	A	T	18: 21,226,286 (GRCm39)	I383F	probably benign	Het
Mpzl1	C	A	1: 165,429,374 (GRCm39)	C222F	probably benign	Het
Mug2	T	C	6: 122,047,829 (GRCm39)	L780P	probably damaging	Het
Naip2	C	T	13: 100,288,665 (GRCm39)		probably null	Het
Ndufab1	T	C	7: 121,695,914 (GRCm39)	D41G	probably benign	Het
Ntn1	A	G	11: 68,104,011 (GRCm39)	C546R	probably damaging	Het
Or2a5	T	A	6: 42,873,687 (GRCm39)	F101I	probably damaging	Het
Pakap	A	G	4: 57,892,963 (GRCm39)	E880G	probably damaging	Het
Pde6b	A	G	5: 108,575,056 (GRCm39)	E639G	probably benign	Het
Phf10	T	C	17: 15,177,071 (GRCm39)	T83A	probably benign	Het
Phkb	T	A	8: 86,628,549 (GRCm39)	I186N	possibly damaging	Het
Pkhd1	A	G	1: 20,636,980 (GRCm39)		probably null	Het
Plxnd1	C	A	6: 115,954,978 (GRCm39)	A595S	possibly damaging	Het
Ppara	T	A	15: 85,685,300 (GRCm39)	H416Q	probably damaging	Het
Prodh	T	A	16: 17,898,891 (GRCm39)	D188V	probably damaging	Het
Psmd14	A	T	2: 61,615,800 (GRCm39)	K223M	possibly damaging	Het
Ptpn5	A	G	7: 46,728,616 (GRCm39)	M528T	possibly damaging	Het
Rassf9	G	A	10: 102,380,800 (GRCm39)	E59K	probably benign	Het
Rnf2	A	T	1: 151,351,936 (GRCm39)	L140H	probably damaging	Het
Scai	A	G	2: 38,970,093 (GRCm39)	F557S	probably damaging	Het
Sdk2	A	G	11: 113,747,552 (GRCm39)	S653P	possibly damaging	Het
Sec24c	A	G	14: 20,739,179 (GRCm39)	D534G	probably benign	Het
Semp2l2a	T	A	8: 13,887,143 (GRCm39)	Q316L	probably benign	Het
Septin4	T	C	11: 87,457,838 (GRCm39)	S71P	probably benign	Het
Serinc1	A	G	10: 57,395,561 (GRCm39)	V375A	probably benign	Het
Serpinb9f	C	T	13: 33,509,829 (GRCm39)	A7V	probably damaging	Het
Smco1	T	C	16: 32,092,700 (GRCm39)	S124P	probably damaging	Het
Smim23	C	A	11: 32,774,441 (GRCm39)	C26F	possibly damaging	Het
Sppl2c	T	A	11: 104,078,715 (GRCm39)	M505K	probably benign	Het
Sprr1b	C	A	3: 92,344,775 (GRCm39)	V34F	possibly damaging	Het
Sun1	G	A	5: 139,221,487 (GRCm39)		probably null	Het
Supt16	A	G	14: 52,415,592 (GRCm39)	L381P	possibly damaging	Het
Syne2	A	G	12: 75,946,020 (GRCm39)	D364G	possibly damaging	Het
Tax1bp1	G	T	6: 52,742,937 (GRCm39)	V775F	probably damaging	Het
Tial1	T	A	7: 128,046,383 (GRCm39)	I231F	probably damaging	Het
Tiam1	C	A	16: 89,595,582 (GRCm39)	V1300L	probably damaging	Het
Tmem132e	A	G	11: 82,334,243 (GRCm39)	T585A	probably damaging	Het
Tnni3k	C	T	3: 154,684,836 (GRCm39)	A165T	probably benign	Het
Tomm40	A	T	7: 19,444,886 (GRCm39)	I165N	probably damaging	Het
Tomt	T	C	7: 101,550,454 (GRCm39)	E104G	probably damaging	Het
Topaz1	T	C	9: 122,596,078 (GRCm39)	S950P	possibly damaging	Het
Traf3ip2	C	G	10: 39,501,936 (GRCm39)	P28R	probably benign	Het
Trim24	C	T	6: 37,934,750 (GRCm39)	P822S	probably damaging	Het
Upf3a	T	G	8: 13,842,108 (GRCm39)	Y175D	probably damaging	Het
Vars2	G	A	17: 35,977,814 (GRCm39)	P69S	probably benign	Het
Veph1	T	C	3: 66,151,976 (GRCm39)	Y151C	probably damaging	Het
Vmn2r11	T	A	5: 109,202,654 (GRCm39)	D141V	probably benign	Het
Vwa5b1	G	A	4: 138,319,331 (GRCm39)	Q442*	probably null	Het
Wdr17	T	A	8: 55,140,761 (GRCm39)	D197V	probably damaging	Het
Wdr70	G	T	15: 7,913,891 (GRCm39)	T586N	possibly damaging	Het
Wfdc18	G	A	11: 83,600,754 (GRCm39)	G52R	probably benign	Het
Zc3h6	T	C	2: 128,858,540 (GRCm39)	I857T	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	17: 46,723,440 (GRCm39)		probably benign	Het
Zfp318	GAAGAA	GAAGAACAAGAA	17: 46,723,450 (GRCm39)		probably benign	Het
Zfp647	C	T	15: 76,796,151 (GRCm39)	V170I	probably benign	Het
Zfp871	T	C	17: 32,994,891 (GRCm39)	N76D	possibly damaging	Het
Zpld2	A	G	4: 133,919,986 (GRCm39)		probably null	Het
Zwilch	A	G	9: 64,068,234 (GRCm39)	Y194H	probably damaging	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
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
R3689:Dcx	UTSW	X	142,660,240 (GRCm39)	missense	possibly damaging	0.67
R3690:Dcx	UTSW	X	142,660,240 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- CCCAAATGAGATAGAGTGTCAGTTAAG -3'
(R):5'- CTTTGTGCGCCCCAAACTTG -3'

Sequencing Primer
(F):5'- GTTCCAGGACAGCCAGAGTTAC -3'
(R):5'- AACTTGTGACCATCATTCGCAG -3'

Posted On

2014-07-14