Mutagenetix > Incidental Mutation

Incidental Mutation 'R2865:Dab1'

476894

Institutional Source

Beutler Lab

Gene Symbol

Dab1

Ensembl Gene

ENSMUSG00000028519

Gene Name

disabled 1

Synonyms

C630028C02Rik

MMRRC Submission

040454-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

R2865 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103476556-104602041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104537343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 192 (C192Y)

Ref Sequence

ENSEMBL: ENSMUSP00000102439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106826] [ENSMUST00000106827] [ENSMUST00000106830] [ENSMUST00000143644] [ENSMUST00000146078]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000106826
AA Change: C192Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102439
Gene: ENSMUSG00000028519
AA Change: C192Y

Domain	Start	End	E-Value	Type
PTB	17	151	3.51e-36	SMART

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106830

SMART Domains

Protein: ENSMUSP00000102443
Gene: ENSMUSG00000028519

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

noncoding transcript
Transcript: ENSMUST00000141037

Predicted Effect

probably benign
Transcript: ENSMUST00000143644

SMART Domains

Protein: ENSMUSP00000118650
Gene: ENSMUSG00000028519

Domain	Start	End	E-Value	Type
PTB	37	160	5.54e-25	SMART

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149672

SMART Domains

Protein: ENSMUSP00000118532
Gene: ENSMUSG00000028519

Domain	Start	End	E-Value	Type
PTB	16	150	3.51e-36	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (30/30)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	G	8: 12,329,635 (GRCm39)	Q30R	unknown	Het
Bmper	A	G	9: 23,395,237 (GRCm39)	N656S	probably benign	Het
Cic	T	A	7: 24,972,646 (GRCm39)	D792E	probably damaging	Het
Ddx6	G	T	9: 44,525,553 (GRCm39)	L103F	probably damaging	Het
Fhod1	T	C	8: 106,059,543 (GRCm39)	K714R	probably null	Het
Flt1	T	C	5: 147,531,431 (GRCm39)	Q844R	possibly damaging	Het
Fnip1	T	C	11: 54,393,250 (GRCm39)	I562T	probably damaging	Het
Fxr2	T	A	11: 69,530,253 (GRCm39)	I40N	probably damaging	Het
Gm7168	A	G	17: 14,170,117 (GRCm39)	K495E	probably benign	Het
Gria2	C	T	3: 80,639,392 (GRCm39)	V207I	probably benign	Het
Ifna6	G	C	4: 88,746,099 (GRCm39)	R149S	probably benign	Het
Ifna6	C	A	4: 88,746,086 (GRCm39)	T145K	probably benign	Het
Igf2r	T	C	17: 12,905,611 (GRCm39)	H2240R	probably damaging	Het
Ighv8-9	G	A	12: 115,432,066 (GRCm39)	P82S	probably benign	Het
Itpr3	T	C	17: 27,310,525 (GRCm39)	V436A	probably benign	Het
Ldb3	T	G	14: 34,251,460 (GRCm39)	D609A	probably damaging	Het
Lgalsl2	G	T	7: 5,362,668 (GRCm39)	D100Y	probably benign	Het
Luc7l	C	A	17: 26,485,335 (GRCm39)	Q112K	probably damaging	Het
Marchf4	C	T	1: 72,491,734 (GRCm39)	R179H	probably damaging	Het
Myt1l	A	G	12: 29,960,788 (GRCm39)	T75A	probably benign	Het
Or5t9	A	T	2: 86,659,198 (GRCm39)	D34V	probably benign	Het
Or8h10	A	T	2: 86,808,805 (GRCm39)	C112S	possibly damaging	Het
Parp4	C	T	14: 56,851,181 (GRCm39)	T728M	probably damaging	Het
Ppp1r10	A	G	17: 36,239,384 (GRCm39)	T398A	possibly damaging	Het
Ppp4c	A	T	7: 126,391,272 (GRCm39)	I20N	probably damaging	Het
Rph3a	C	T	5: 121,085,990 (GRCm39)	G482D	probably damaging	Het
Rtel1	T	A	2: 180,991,765 (GRCm39)	F388I	probably benign	Het
Slc12a6	G	A	2: 112,177,662 (GRCm39)	V594I	probably benign	Het
Slc2a4	G	A	11: 69,836,942 (GRCm39)	S134F	probably damaging	Het
Tead4	A	T	6: 128,225,062 (GRCm39)		probably null	Het
Usp40	G	A	1: 87,877,701 (GRCm39)	Q1152*	probably null	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
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

Posted On

2017-05-15