Mutagenetix > Incidental Mutation

Incidental Mutation 'R1086:Dab1'

85016

Institutional Source

Beutler Lab

Gene Symbol

Dab1

Ensembl Gene

ENSMUSG00000028519

Gene Name

disabled 1

Synonyms

C630028C02Rik

MMRRC Submission

039172-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

R1086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103476556-104602041 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 104185769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106827]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000094945
AA Change: P96Q

Predicted Effect

probably benign
Transcript: ENSMUST00000106827

SMART Domains

Protein: ENSMUSP00000102440
Gene: ENSMUSG00000028519

Domain	Start	End	E-Value	Type
PTB	37	171	3.51e-36	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.4%

Validation Efficiency

100% (53/53)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,334,220 (GRCm39)		probably benign	Het
Agbl4	G	C	4: 110,335,791 (GRCm39)		probably benign	Het
Ano6	T	C	15: 95,847,843 (GRCm39)		probably null	Het
B3gnt8	C	G	7: 25,327,736 (GRCm39)	N55K	probably damaging	Het
Brox	A	G	1: 183,064,052 (GRCm39)	Y252H	probably damaging	Het
Cfap100	T	A	6: 90,380,890 (GRCm39)	K605*	probably null	Het
Chd7	A	G	4: 8,866,458 (GRCm39)	T877A	probably benign	Het
Csmd3	T	A	15: 47,559,151 (GRCm39)	I2371F	probably damaging	Het
Cwc22	T	A	2: 77,754,824 (GRCm39)		probably benign	Het
Cyp2s1	A	T	7: 25,505,422 (GRCm39)	D347E	probably damaging	Het
Dis3l2	G	A	1: 86,917,871 (GRCm39)	D493N	probably benign	Het
Got1l1	A	G	8: 27,688,007 (GRCm39)	W341R	probably damaging	Het
Gps2	A	G	11: 69,806,050 (GRCm39)		probably benign	Het
Haus1	A	C	18: 77,854,553 (GRCm39)		probably benign	Het
Itgam	T	C	7: 127,679,436 (GRCm39)	S193P	probably damaging	Het
Itpr2	C	A	6: 146,251,543 (GRCm39)	A1034S	probably damaging	Het
Lrp5	T	C	19: 3,699,476 (GRCm39)	R270G	probably benign	Het
Ltbr	G	A	6: 125,289,703 (GRCm39)		probably benign	Het
Mdga2	T	C	12: 66,552,876 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,862,813 (GRCm39)	M1387K	probably damaging	Het
Nwd2	C	T	5: 63,963,917 (GRCm39)	S1167L	probably damaging	Het
Or5h19	T	A	16: 58,856,626 (GRCm39)	H158L	probably damaging	Het
Pfkm	T	C	15: 98,029,546 (GRCm39)	V719A	probably benign	Het
Ppfia3	C	G	7: 45,011,182 (GRCm39)	G16A	probably damaging	Het
Ppp2r3d	G	A	9: 101,031,021 (GRCm39)	T245I	possibly damaging	Het
Ptprd	T	C	4: 76,051,495 (GRCm39)	T256A	probably damaging	Het
Ptprg	C	T	14: 11,952,706 (GRCm38)		probably benign	Het
Rabgap1	T	C	2: 37,359,458 (GRCm39)	V7A	probably damaging	Het
Rnh1	T	G	7: 140,743,282 (GRCm39)	Q231P	probably benign	Het
Rwdd2b	C	T	16: 87,233,446 (GRCm39)		probably benign	Het
Saal1	T	C	7: 46,338,883 (GRCm39)		probably benign	Het
Sap130	G	A	18: 31,783,673 (GRCm39)		probably benign	Het
Serpina1d	T	G	12: 103,730,046 (GRCm39)	M379L	probably benign	Het
Skor2	A	C	18: 76,946,994 (GRCm39)	S239R	unknown	Het
Slc16a13	A	G	11: 70,109,850 (GRCm39)	L217P	probably damaging	Het
Slc18b1	T	C	10: 23,679,693 (GRCm39)	M74T	probably benign	Het
Speer4e2	T	C	5: 15,028,804 (GRCm39)	D29G	probably benign	Het
Tacc2	A	T	7: 130,228,227 (GRCm39)	E1637D	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tg	A	C	15: 66,555,911 (GRCm39)	I868L	probably benign	Het
Ttll5	G	A	12: 85,937,853 (GRCm39)	V395I	possibly damaging	Het
Uba6	C	A	5: 86,275,578 (GRCm39)	C739F	probably benign	Het
Unc5d	A	C	8: 29,365,658 (GRCm39)	V109G	possibly damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp462	G	T	4: 55,013,000 (GRCm39)	K507N	probably damaging	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
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
R1847: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'- GGGACTGTTTCCATCTGAGCATCTG -3'
(R):5'- ATGTGAGGTTCCCATGAAAGGCTG -3'

Sequencing Primer
(F):5'- TGAGCATCTGCTCTGACTATG -3'
(R):5'- aatgaatgaatgaatgaatgaatgGG -3'

Posted On

2013-11-18