Mutagenetix > Incidental Mutation

Incidental Mutation 'R1847:Dab1'

207790

Institutional Source

Beutler Lab

Gene Symbol

Dab1

Ensembl Gene

ENSMUSG00000028519

Gene Name

disabled 1

Synonyms

C630028C02Rik

MMRRC Submission

039872-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R1847 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

103476556-104602041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104588948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 524 (A524V)

Ref Sequence

ENSEMBL: ENSMUSP00000102443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106830] [ENSMUST00000146078]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000106830
AA Change: A524V

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102443
Gene: ENSMUSG00000028519
AA Change: A524V

Domain	Start	End	E-Value	Type
PTB	37	171	3.51e-36	SMART
low complexity region	254	267	N/A	INTRINSIC
low complexity region	470	487	N/A	INTRINSIC
low complexity region	490	501	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146078

SMART Domains

Protein: ENSMUSP00000125033
Gene: ENSMUSG00000028519

Domain	Start	End	E-Value	Type
PTB	37	171	3.51e-36	SMART
low complexity region	235	242	N/A	INTRINSIC

Meta Mutation Damage Score

0.2232

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous null display unstable gait and whole-body tremor with a hypoplastic cerebellum devoid of folia, a probable consequence of defective neuronal migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	C	A	16: 14,263,313 (GRCm39)	R758S	probably benign	Het
Acnat1	A	T	4: 49,447,716 (GRCm39)	H288Q	possibly damaging	Het
Adamts1	T	C	16: 85,599,114 (GRCm39)	E162G	possibly damaging	Het
Akap11	A	G	14: 78,751,101 (GRCm39)	S429P	probably benign	Het
Alg14	T	C	3: 121,155,415 (GRCm39)	Y212H	probably damaging	Het
Cacna1g	T	C	11: 94,357,007 (GRCm39)	T97A	probably damaging	Het
Ccdc112	T	A	18: 46,420,821 (GRCm39)	N310Y	possibly damaging	Het
Cenpl	A	T	1: 160,913,574 (GRCm39)	Y328F	probably damaging	Het
Cep162	G	A	9: 87,086,133 (GRCm39)	H1064Y	probably benign	Het
Cnksr3	T	A	10: 7,104,324 (GRCm39)	E126D	probably benign	Het
Ctsh	T	A	9: 89,943,618 (GRCm39)	M81K	probably benign	Het
D6Wsu163e	A	G	6: 126,932,112 (GRCm39)	T284A	probably damaging	Het
Dnaaf1	T	A	8: 120,309,616 (GRCm39)	M196K	probably benign	Het
Dnah9	C	A	11: 65,725,212 (GRCm39)	G4314C	probably damaging	Het
Dph1	A	G	11: 75,070,557 (GRCm39)	Y361H	probably damaging	Het
Ect2	C	T	3: 27,204,221 (GRCm39)	M29I	probably benign	Het
Eif3h	T	C	15: 51,661,066 (GRCm39)	Y167C	probably damaging	Het
Epc2	C	T	2: 49,422,101 (GRCm39)	R332C	probably damaging	Het
Fras1	C	A	5: 96,897,282 (GRCm39)		probably null	Het
Gfm2	A	G	13: 97,299,442 (GRCm39)	I386V	probably benign	Het
Gpd1l	G	A	9: 114,743,399 (GRCm39)	T167I	probably damaging	Het
Hsph1	T	A	5: 149,546,950 (GRCm39)	K567*	probably null	Het
Igfn1	T	G	1: 135,897,126 (GRCm39)	S1147R	probably benign	Het
Itgb4	T	C	11: 115,874,590 (GRCm39)	V406A	probably benign	Het
Kcna2	A	G	3: 107,012,429 (GRCm39)	I337V	possibly damaging	Het
Kcnab1	T	C	3: 65,209,615 (GRCm39)		probably null	Het
Kri1	G	T	9: 21,191,788 (GRCm39)		probably benign	Het
Lrguk	T	A	6: 34,110,322 (GRCm39)	I801K	possibly damaging	Het
Magi2	A	T	5: 20,807,458 (GRCm39)	N871Y	probably damaging	Het
Map3k10	G	T	7: 27,360,981 (GRCm39)		probably null	Het
Mrps25	T	C	6: 92,155,721 (GRCm39)	T71A	probably damaging	Het
Myo15a	G	A	11: 60,390,321 (GRCm39)	W945*	probably null	Het
Ncan	A	T	8: 70,555,104 (GRCm39)	I1021N	probably damaging	Het
Ncf4	C	A	15: 78,134,582 (GRCm39)	S11R	probably benign	Het
Neb	A	C	2: 52,086,307 (GRCm39)	S5255R	possibly damaging	Het
Nop2	TGATGAAGATGAAGATGA	TGATGAAGATGA	6: 125,114,042 (GRCm39)		probably benign	Het
Or4c102	G	A	2: 88,422,516 (GRCm39)	A123T	probably damaging	Het
Or5ak22	A	T	2: 85,230,785 (GRCm39)	F31I	probably damaging	Het
Or5d16	T	C	2: 87,773,065 (GRCm39)		probably null	Het
Pacs1	T	C	19: 5,203,742 (GRCm39)	I328V	probably damaging	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Pan2	A	G	10: 128,140,247 (GRCm39)	H56R	possibly damaging	Het
Pigo	G	A	4: 43,024,710 (GRCm39)	R124*	probably null	Het
Ppfia2	A	G	10: 106,763,571 (GRCm39)	D1188G	probably benign	Het
Ppp1r16b	A	G	2: 158,603,355 (GRCm39)	N327D	probably damaging	Het
Psd3	A	G	8: 68,172,656 (GRCm39)	C223R	possibly damaging	Het
Rad50	A	G	11: 53,592,934 (GRCm39)	V72A	possibly damaging	Het
Rcor3	T	A	1: 191,785,133 (GRCm39)	D445V	possibly damaging	Het
Rundc1	T	A	11: 101,324,507 (GRCm39)	H404Q	probably benign	Het
Ryr1	T	C	7: 28,779,236 (GRCm39)	K2083E	probably benign	Het
Scd3	C	A	19: 44,224,281 (GRCm39)	H171Q	probably damaging	Het
Scrn2	T	C	11: 96,923,021 (GRCm39)	F155L	probably benign	Het
Serpina12	A	T	12: 103,998,769 (GRCm39)	L323Q	probably damaging	Het
Sptlc3	T	A	2: 139,467,843 (GRCm39)	M467K	probably benign	Het
Stard9	G	T	2: 120,528,970 (GRCm39)	R1742S	possibly damaging	Het
Thbd	A	T	2: 148,249,604 (GRCm39)	L88*	probably null	Het
Tln2	G	A	9: 67,269,969 (GRCm39)	Q477*	probably null	Het
Tnn	T	A	1: 159,943,752 (GRCm39)	E1020D	possibly damaging	Het
Trip12	A	T	1: 84,726,990 (GRCm39)	H3Q	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmp1	G	A	11: 86,534,413 (GRCm39)	Q165*	probably null	Het
Zfp758	T	A	17: 22,594,204 (GRCm39)	M230K	probably benign	Het

Other mutations in Dab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Dab1	APN	4	104,535,950 (GRCm39)	missense	possibly damaging	0.90
IGL00087:Dab1	APN	4	104,536,007 (GRCm39)	missense	probably damaging	1.00
IGL00328:Dab1	APN	4	104,545,635 (GRCm39)	missense	possibly damaging	0.55
IGL00756:Dab1	APN	4	104,585,075 (GRCm39)	missense	probably benign
IGL02074:Dab1	APN	4	104,585,051 (GRCm39)	missense	possibly damaging	0.90
IGL02286:Dab1	APN	4	104,537,267 (GRCm39)	missense	probably damaging	1.00
IGL02986:Dab1	APN	4	104,336,418 (GRCm39)	missense	probably benign	0.00
IGL03008:Dab1	APN	4	104,584,777 (GRCm39)	missense	probably damaging	0.99
IGL03133:Dab1	APN	4	104,584,777 (GRCm39)	missense	probably benign	0.41
IGL03375:Dab1	APN	4	104,538,798 (GRCm39)	missense	possibly damaging	0.70
LCD18:Dab1	UTSW	4	103,903,769 (GRCm39)	intron	probably benign
R0027:Dab1	UTSW	4	104,561,396 (GRCm39)	intron	probably benign
R0466:Dab1	UTSW	4	104,577,747 (GRCm39)	missense	probably benign	0.15
R0838:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R0840:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R1086:Dab1	UTSW	4	104,185,769 (GRCm39)	intron	probably benign
R1598:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R1640:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R1699:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R1749:Dab1	UTSW	4	104,185,495 (GRCm39)	intron	probably benign
R1770:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R1846:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R1848:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R1885:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R1986:Dab1	UTSW	4	104,470,412 (GRCm39)	missense	probably damaging	0.97
R1990:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R2006:Dab1	UTSW	4	104,462,522 (GRCm39)	missense	probably damaging	1.00
R2030:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R2032:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R2034:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R2061:Dab1	UTSW	4	104,535,938 (GRCm39)	missense	probably damaging	1.00
R2088:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R2089:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R2091:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R2091:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R2092:Dab1	UTSW	4	104,535,974 (GRCm39)	missense	probably damaging	1.00
R2193:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R2194:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R2361:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R2362:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R2391:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R2424:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R2865:Dab1	UTSW	4	104,537,343 (GRCm39)	missense	probably benign
R3118:Dab1	UTSW	4	104,537,266 (GRCm39)	critical splice acceptor site	probably null
R3716:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R3718:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R3740:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R3742:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R3965:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R4057:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R4393:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R4396:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R4418:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R4607:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R4608:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R4648:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R4693:Dab1	UTSW	4	104,536,750 (GRCm39)	missense	probably damaging	1.00
R4701:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R4730:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R4760:Dab1	UTSW	4	104,589,342 (GRCm39)	missense	probably damaging	1.00
R4927:Dab1	UTSW	4	104,561,449 (GRCm39)	missense	probably benign
R5173:Dab1	UTSW	4	104,545,645 (GRCm39)	splice site	probably null
R5503:Dab1	UTSW	4	104,369,461 (GRCm39)	missense	probably benign	0.01
R6199:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6200:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6207:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6224:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6227:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6228:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6229:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6246:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6247:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6248:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6249:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6250:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6258:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6259:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6260:Dab1	UTSW	4	104,588,948 (GRCm39)	missense	probably benign	0.29
R6505:Dab1	UTSW	4	104,369,461 (GRCm39)	missense	probably benign	0.01
R6817:Dab1	UTSW	4	104,536,743 (GRCm39)	missense	probably damaging	1.00
R7305:Dab1	UTSW	4	104,570,987 (GRCm39)	missense
R7709:Dab1	UTSW	4	104,577,756 (GRCm39)	nonsense	probably null
R7894:Dab1	UTSW	4	104,589,335 (GRCm39)	missense	probably benign	0.03
R8142:Dab1	UTSW	4	104,535,921 (GRCm39)	missense	probably damaging	1.00
R8462:Dab1	UTSW	4	104,561,404 (GRCm39)	missense	probably benign	0.10
R8472:Dab1	UTSW	4	104,336,439 (GRCm39)	missense	possibly damaging	0.89
R9138:Dab1	UTSW	4	104,588,929 (GRCm39)	nonsense	probably null
R9311:Dab1	UTSW	4	104,369,463 (GRCm39)	critical splice donor site	probably null
RF017:Dab1	UTSW	4	104,570,849 (GRCm39)	missense	probably benign	0.01
Z1088:Dab1	UTSW	4	104,336,429 (GRCm39)	missense	probably damaging	0.99
Z1176:Dab1	UTSW	4	104,585,275 (GRCm39)	missense	probably benign	0.00
Z1177:Dab1	UTSW	4	104,584,937 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ATGGGATATAAATGGCTGTGGC -3'
(R):5'- ACCAGTTATTTTACAGGAGGCTG -3'

Sequencing Primer
(F):5'- GGATATAAATGGCTGTGGCTTATATG -3'
(R):5'- TTTACAGGAGGCTGAAACTTCCC -3'

Posted On

2014-06-23