Mutagenetix > Incidental Mutation

Incidental Mutation 'R8142:Dab1'

632574

Institutional Source

Beutler Lab

Gene Symbol

Dab1

Ensembl Gene

ENSMUSG00000028519

Gene Name

disabled 1

Synonyms

C630028C02Rik

MMRRC Submission

067570-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

R8142 (G1)

Quality Score

224.009

Status

Not validated

Chromosome

Chromosomal Location

103476556-104602041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104535921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 110 (V110D)

Ref Sequence

ENSEMBL: ENSMUSP00000102443 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000106826
AA Change: V90D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102439
Gene: ENSMUSG00000028519
AA Change: V90D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106827
AA Change: V110D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102440
Gene: ENSMUSG00000028519
AA Change: V110D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106830
AA Change: V110D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102443
Gene: ENSMUSG00000028519
AA Change: V110D

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 damaging
Transcript: ENSMUST00000143644
AA Change: V110D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118650
Gene: ENSMUSG00000028519
AA Change: V110D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146078
AA Change: V110D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125033
Gene: ENSMUSG00000028519
AA Change: V110D

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118532
Gene: ENSMUSG00000028519
AA Change: V88D

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

Coding Region Coverage

1x: 99.7%
3x: 99.5%
10x: 98.0%
20x: 91.7%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1e2	A	T	17: 87,252,083 (GRCm39)	I105N	possibly damaging	Het
Azi2	A	G	9: 117,878,475 (GRCm39)	D105G	probably damaging	Het
Bmpr2	T	C	1: 59,909,465 (GRCm39)	S980P	probably damaging	Het
Ccno	T	G	13: 113,125,489 (GRCm39)	L151R	probably damaging	Het
Cdh2	A	C	18: 16,734,791 (GRCm39)	I801S	probably benign	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Dnah3	T	C	7: 119,660,189 (GRCm39)	T828A	probably benign	Het
Dnah5	G	T	15: 28,384,519 (GRCm39)	V3088L	probably benign	Het
Dtd2	T	A	12: 52,046,593 (GRCm39)	D82V	probably damaging	Het
Dusp5	T	C	19: 53,525,912 (GRCm39)	F185L	probably damaging	Het
Epha10	A	G	4: 124,779,639 (GRCm39)	T162A	probably damaging	Het
Fat4	A	T	3: 38,945,352 (GRCm39)	D1415V	probably damaging	Het
Fitm1	T	C	14: 55,813,247 (GRCm39)	Y37H	possibly damaging	Het
Flg2	G	T	3: 93,122,782 (GRCm39)	E1651*	probably null	Het
Ifit3	G	T	19: 34,564,901 (GRCm39)	C149F	probably damaging	Het
Lepr	C	A	4: 101,622,616 (GRCm39)	H465Q	possibly damaging	Het
Ltn1	A	C	16: 87,178,529 (GRCm39)	S1567A	probably benign	Het
Marchf1	T	C	8: 66,908,778 (GRCm39)	V166A	probably benign	Het
Marveld2	T	C	13: 100,737,448 (GRCm39)	H424R	possibly damaging	Het
Mypop	A	G	7: 18,735,051 (GRCm39)	T383A	unknown	Het
Ngef	G	C	1: 87,468,463 (GRCm39)	R99G	probably benign	Het
Nherf4	A	G	9: 44,162,078 (GRCm39)		probably null	Het
Npepps	G	T	11: 97,109,398 (GRCm39)	A726D	probably damaging	Het
Or6c63-ps1	T	A	10: 128,900,519 (GRCm39)	D9V	probably benign	Het
Pcdhgb4	A	G	18: 37,854,166 (GRCm39)	D187G	probably damaging	Het
Per2	T	C	1: 91,349,269 (GRCm39)	E1034G	possibly damaging	Het
Pira1	A	G	7: 3,739,842 (GRCm39)	S418P	possibly damaging	Het
Pkhd1l1	G	A	15: 44,378,327 (GRCm39)	R1027H	probably benign	Het
Pon2	A	T	6: 5,266,239 (GRCm39)	V260D	probably benign	Het
Rnase13	A	G	14: 52,159,893 (GRCm39)	I82T	probably damaging	Het
Sbno1	A	G	5: 124,546,608 (GRCm39)	S194P	probably benign	Het
Serpinb6c	T	A	13: 34,064,096 (GRCm39)	I320L	probably benign	Het
Sh3rf3	C	T	10: 58,885,205 (GRCm39)	R363*	probably null	Het
Slc11a1	T	C	1: 74,424,418 (GRCm39)	F500L	probably benign	Het
Slc1a4	A	G	11: 20,257,890 (GRCm39)		probably null	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Sorcs2	T	C	5: 36,219,958 (GRCm39)	N362S	possibly damaging	Het
Stau2	A	G	1: 16,530,575 (GRCm39)	S115P	unknown	Het
Stk38l	A	G	6: 146,660,070 (GRCm39)	N34S	probably benign	Het
Tmem201	T	C	4: 149,803,114 (GRCm39)	T585A	probably benign	Het
Ttc6	A	T	12: 57,744,258 (GRCm39)	I1297F	possibly damaging	Het
Uncx	A	G	5: 139,532,655 (GRCm39)	D240G	possibly damaging	Het
Vmn2r88	A	G	14: 51,651,564 (GRCm39)	I293V		Het
Vps11	T	C	9: 44,265,852 (GRCm39)	T476A	probably benign	Het
Vrtn	T	C	12: 84,697,395 (GRCm39)	L715P	probably damaging	Het
Wdr72	T	G	9: 74,046,949 (GRCm39)	V65G	probably damaging	Het
Zbtb21	T	C	16: 97,752,675 (GRCm39)	E536G	probably damaging	Het
Zbtb34	G	T	2: 33,302,493 (GRCm39)	S16*	probably null	Het
Zfhx2	G	A	14: 55,310,895 (GRCm39)	L600F	possibly 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
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
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'- TTTCACTCTGGTCACAGCAG -3'
(R):5'- ACAGTGTTGACTCTGTCCTGC -3'

Sequencing Primer
(F):5'- TTCTCAAGGGCAGGCGTAG -3'
(R):5'- TGTCCTGCCCCGTAACAAG -3'

Posted On

2020-06-30