Mutagenetix > Incidental Mutation

Incidental Mutation 'R4396:Dab1'

377709

Institutional Source

Beutler Lab

Gene Symbol

Dab1

Ensembl Gene

ENSMUSG00000028519

Gene Name

disabled 1

Synonyms

C630028C02Rik

MMRRC Submission

041129-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R4396 (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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (52/53)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	C	7: 119,195,143 (GRCm39)	F552L	probably damaging	Het
Actn2	A	G	13: 12,325,765 (GRCm39)	L70P	probably damaging	Het
Btbd7	A	G	12: 102,751,552 (GRCm39)	S1071P	probably benign	Het
Cd200r1	T	A	16: 44,586,417 (GRCm39)	W16R	probably benign	Het
Cdhr2	A	G	13: 54,863,478 (GRCm39)	N120D	probably damaging	Het
Col19a1	T	C	1: 24,549,947 (GRCm39)	T317A	unknown	Het
Dmbt1	T	C	7: 130,718,361 (GRCm39)	L1683P	probably damaging	Het
Dynll1	A	T	5: 115,438,700 (GRCm39)	C2S	probably benign	Het
Elp2	T	A	18: 24,742,707 (GRCm39)	S80T	probably damaging	Het
Fat1	T	A	8: 45,405,383 (GRCm39)	N711K	probably damaging	Het
Fzd3	A	G	14: 65,473,054 (GRCm39)	I238T	probably damaging	Het
Galnt7	A	T	8: 57,991,215 (GRCm39)	F432I	probably damaging	Het
Gemin5	T	A	11: 58,030,375 (GRCm39)	T817S	probably benign	Het
Gm5414	T	G	15: 101,534,101 (GRCm39)	E294A	probably damaging	Het
H2-T5	C	A	17: 36,472,861 (GRCm39)		probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Kcnj4	C	A	15: 79,368,874 (GRCm39)	A369S	probably benign	Het
Llgl1	T	C	11: 60,596,834 (GRCm39)	V145A	probably benign	Het
Mdga1	T	C	17: 30,069,491 (GRCm39)	D185G	probably damaging	Het
Mettl2	A	G	11: 105,017,604 (GRCm39)	D38G	probably damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mpp4	T	C	1: 59,183,961 (GRCm39)	I260V	possibly damaging	Het
Mtcl1	T	C	17: 66,651,220 (GRCm39)	E1112G	probably damaging	Het
Mtus2	T	A	5: 148,140,748 (GRCm39)	N871K	possibly damaging	Het
Mylk	C	T	16: 34,732,645 (GRCm39)	Q642*	probably null	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Or4f57	A	G	2: 111,790,560 (GRCm39)	I286T	probably damaging	Het
Pdzd2	A	T	15: 12,387,732 (GRCm39)	D875E	probably benign	Het
Piezo1	G	T	8: 123,225,413 (GRCm39)	T557K	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Plxnb1	T	C	9: 108,929,291 (GRCm39)	V49A	possibly damaging	Het
Pramel6	A	T	2: 87,338,874 (GRCm39)	I25F	probably damaging	Het
Rreb1	C	T	13: 38,114,419 (GRCm39)	Q593*	probably null	Het
Scn8a	A	G	15: 100,870,711 (GRCm39)	N254S	probably damaging	Het
Scnn1g	T	G	7: 121,339,650 (GRCm39)	S150A	probably benign	Het
Sec24a	A	G	11: 51,605,991 (GRCm39)	F686L	possibly damaging	Het
Sirt1	T	C	10: 63,157,777 (GRCm39)	T546A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Traf5	A	T	1: 191,729,806 (GRCm39)	V415E	probably benign	Het
Traip	C	G	9: 107,836,686 (GRCm39)	T110S	probably benign	Het
Treml2	T	C	17: 48,615,142 (GRCm39)	V209A	probably benign	Het
Trpv5	T	C	6: 41,634,830 (GRCm39)	S500G	probably benign	Het
Usp32	G	A	11: 84,944,801 (GRCm39)	L296F	probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Zswim1	A	G	2: 164,667,369 (GRCm39)	D207G	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
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
R4393: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'- ACAGGAGGCTGAAACTTCCC -3'

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

Posted On

2016-03-21