Mutagenetix > Incidental Mutation

Incidental Mutation 'R4393:Dab1'

368384

Institutional Source

Beutler Lab

Gene Symbol

Dab1

Ensembl Gene

ENSMUSG00000028519

Gene Name

disabled 1

Synonyms

C630028C02Rik

MMRRC Submission

041128-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R4393 (G1)

Quality Score

225

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: 99.6%
3x: 98.7%
10x: 96.5%
20x: 92.4%

Validation Efficiency

95% (71/75)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433N12Rik	C	A	9: 3,134,944 (GRCm39)		noncoding transcript	Het
Adgrg4	T	G	X: 55,977,703 (GRCm39)	L2193V	probably damaging	Het
Adgrl1	T	C	8: 84,665,222 (GRCm39)	V1353A	probably benign	Het
Cep68	A	T	11: 20,188,544 (GRCm39)	N620K	probably benign	Het
Clcnkb	A	G	4: 141,139,547 (GRCm39)	S152P	probably benign	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Cyp26c1	G	A	19: 37,675,105 (GRCm39)	R142H	probably damaging	Het
Dlg5	T	A	14: 24,228,057 (GRCm39)		probably null	Het
Dnai7	T	C	6: 145,140,304 (GRCm39)	T166A	possibly damaging	Het
Ebf3	C	T	7: 136,826,886 (GRCm39)	R342H	probably damaging	Het
Ece2	T	C	16: 20,451,598 (GRCm39)	V380A	probably damaging	Het
Epb41l4a	C	T	18: 34,024,473 (GRCm39)		probably null	Het
Erbb3	G	T	10: 128,408,639 (GRCm39)	Q815K	probably damaging	Het
Ercc3	T	A	18: 32,398,674 (GRCm39)	M651K	probably benign	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Foxp2	A	C	6: 15,377,689 (GRCm39)		probably benign	Het
Gdf10	T	C	14: 33,654,695 (GRCm39)	Y401H	probably damaging	Het
Gm21738	G	C	14: 19,417,178 (GRCm38)	L117V	probably benign	Het
Gm6408	A	T	5: 146,419,147 (GRCm39)	D54V	probably damaging	Het
H2-T5	C	A	17: 36,472,861 (GRCm39)		probably benign	Het
Hcn4	A	G	9: 58,751,583 (GRCm39)	E403G	unknown	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hyou1	T	A	9: 44,293,169 (GRCm39)	V125E	probably damaging	Het
Il11ra1	T	C	4: 41,768,577 (GRCm39)		probably null	Het
Immt	T	A	6: 71,849,784 (GRCm39)	S435T	probably benign	Het
Kcnip2	A	G	19: 45,800,669 (GRCm39)	L19P	probably benign	Het
Kctd2	T	C	11: 115,320,326 (GRCm39)		probably benign	Het
Mdga1	T	C	17: 30,069,491 (GRCm39)	D185G	probably damaging	Het
Mdn1	C	T	4: 32,754,482 (GRCm39)	T4666M	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Msl2	A	G	9: 100,978,676 (GRCm39)	E350G	probably damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Myo3a	A	T	2: 22,467,866 (GRCm39)	K373N	probably damaging	Het
Nr5a1	T	C	2: 38,584,231 (GRCm39)	E396G	probably damaging	Het
Ogdh	G	A	11: 6,266,772 (GRCm39)	G141D	probably damaging	Het
Or10q1b	T	C	19: 13,682,554 (GRCm39)	I121T	possibly damaging	Het
Or2h2c	T	C	17: 37,424,971 (GRCm39)		probably benign	Het
Or5w1b	A	T	2: 87,476,256 (GRCm39)	C70*	probably null	Het
Orc2	C	A	1: 58,506,809 (GRCm39)		probably null	Het
P4ha3	C	T	7: 99,954,814 (GRCm39)	P291S	probably benign	Het
Pign	T	C	1: 105,449,751 (GRCm39)	K925R	probably benign	Het
Plekhm1	A	G	11: 103,267,791 (GRCm39)	S727P	possibly damaging	Het
Prr36	G	T	8: 4,264,901 (GRCm39)		probably benign	Het
Prrt3	A	G	6: 113,471,907 (GRCm39)	L755P	probably benign	Het
Secisbp2	A	G	13: 51,808,502 (GRCm39)	H89R	probably damaging	Het
Sgms2	A	T	3: 131,135,466 (GRCm39)		probably null	Het
Slc35d3	T	C	10: 19,725,352 (GRCm39)		probably null	Het
Slu7	T	A	11: 43,330,096 (GRCm39)	N174K	possibly damaging	Het
Teddm1a	G	T	1: 153,768,192 (GRCm39)	D219Y	probably damaging	Het
Tgtp1	C	A	11: 48,878,450 (GRCm39)	G85V	probably damaging	Het
Tmem51	T	C	4: 141,759,242 (GRCm39)	T169A	probably benign	Het
Tmem69	C	T	4: 116,411,964 (GRCm39)		probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Vwa3b	T	C	1: 37,084,259 (GRCm39)	V144A	probably damaging	Het
Zdhhc21	A	G	4: 82,765,891 (GRCm39)	C15R	possibly damaging	Het
Zfp142	T	C	1: 74,611,219 (GRCm39)	T756A	probably benign	Het
Zfp606	C	T	7: 12,226,776 (GRCm39)	S241F	probably damaging	Het
Zfp804a	A	T	2: 82,087,265 (GRCm39)	T365S	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
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
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'- TTTTACAGGAGGCTGAAACTTCCC -3'

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

Posted On

2016-02-03