Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00087:Dab1'

1716

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dab1

Ensembl Gene

ENSMUSG00000028519

Gene Name

disabled 1

Synonyms

C630028C02Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.885) question?

Stock #

IGL00087

Quality Score

Status

Chromosome

Chromosomal Location

103619359-104744844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104678810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 139 (V139M)

Ref Sequence

ENSEMBL: ENSMUSP00000125033 (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: V119M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102439
Gene: ENSMUSG00000028519
AA Change: V119M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106827
AA Change: V139M

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

SMART Domains

Protein: ENSMUSP00000102440
Gene: ENSMUSG00000028519
AA Change: V139M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106830
AA Change: V139M

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

SMART Domains

Protein: ENSMUSP00000102443
Gene: ENSMUSG00000028519
AA Change: V139M

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 damaging
Transcript: ENSMUST00000143644
AA Change: V139M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118650
Gene: ENSMUSG00000028519
AA Change: V139M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146078
AA Change: V139M

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

SMART Domains

Protein: ENSMUSP00000125033
Gene: ENSMUSG00000028519
AA Change: V139M

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

Predicted Effect

unknown
Transcript: ENSMUST00000149672
AA Change: V117M

SMART Domains

Protein: ENSMUSP00000118532
Gene: ENSMUSG00000028519
AA Change: V117M

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

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	C	A	3: 121,679,633		probably benign	Het
4930572O03Rik	C	A	5: 15,656,886		probably benign	Het
Actr2	C	A	11: 20,094,370	V79L	probably benign	Het
Ankrd36	A	C	11: 5,620,131	Y533S	probably benign	Het
Btnl1	A	T	17: 34,381,117	D198V	probably damaging	Het
Carmil2	T	A	8: 105,691,406	I684N	probably benign	Het
Ccdc129	T	A	6: 55,968,037	L581Q	possibly damaging	Het
Cdk17	T	A	10: 93,226,771	V257D	probably damaging	Het
Ctsj	T	G	13: 61,001,418	S271R	possibly damaging	Het
Cul9	T	A	17: 46,525,709	Q1130L	probably damaging	Het
Daam1	G	T	12: 71,942,219	S131I	unknown	Het
Dnah2	A	G	11: 69,492,672	V1142A	possibly damaging	Het
Dsg1b	C	T	18: 20,396,476	T326I	probably damaging	Het
Eif3k	A	C	7: 28,974,676		probably benign	Het
Fam76b	T	C	9: 13,836,884	V3A	possibly damaging	Het
Fitm2	A	G	2: 163,469,792	V167A	probably benign	Het
Gfap	T	A	11: 102,888,718	I418F	possibly damaging	Het
Gm8857	C	T	5: 10,947,838		probably benign	Het
Grm5	T	C	7: 88,130,781	V1143A	probably benign	Het
Itpr2	A	G	6: 146,397,012	I317T	probably damaging	Het
Kcnn2	A	C	18: 45,592,236	R266S	probably damaging	Het
Kntc1	T	A	5: 123,790,159	S1240T	probably benign	Het
Lmnb2	T	C	10: 80,904,037	D490G	possibly damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Pax9	A	G	12: 56,700,075	N232S	probably benign	Het
Pdcd6ip	A	G	9: 113,697,518	S108P	possibly damaging	Het
Pitpnc1	T	C	11: 107,212,643	E210G	possibly damaging	Het
Prdm10	T	C	9: 31,360,812		probably benign	Het
Prl4a1	G	A	13: 28,021,460	G136E	probably damaging	Het
Pstpip2	A	G	18: 77,874,294	S255G	probably benign	Het
Rimbp3	T	G	16: 17,209,743	S344A	probably benign	Het
Rint1	A	G	5: 23,794,431	T73A	probably benign	Het
Rnf145	T	C	11: 44,555,212	V291A	possibly damaging	Het
Rrm1	T	A	7: 102,454,507	L221*	probably null	Het
Scn11a	A	G	9: 119,770,506	L1114P	probably benign	Het
Slc44a4	A	G	17: 34,930,240		probably benign	Het
Sorl1	A	C	9: 41,974,094	N2070K	probably damaging	Het
Spaca7	C	T	8: 12,580,941		probably benign	Het
Srsf6	G	T	2: 162,931,707	V13F	probably damaging	Het
Stab1	G	T	14: 31,161,357	T336N	probably benign	Het
Strbp	A	G	2: 37,586,504		probably benign	Het
Tbc1d4	A	G	14: 101,608,112	F117L	probably damaging	Het
Tcf20	A	G	15: 82,854,895	V785A	probably damaging	Het
Ticrr	A	G	7: 79,677,283	K580E	probably damaging	Het
Ubr4	A	T	4: 139,465,322	E4225D	possibly damaging	Het
Uck1	A	T	2: 32,259,669	V66D	probably damaging	Het
Vmn2r25	A	G	6: 123,853,171	F7S	probably benign	Het
Zan	C	T	5: 137,387,820		probably null	Het
Zfp819	T	A	7: 43,611,979		probably benign	Het

Other mutations in Dab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Dab1	APN	4	104678753	missense	possibly damaging	0.90
IGL00328:Dab1	APN	4	104688438	missense	possibly damaging	0.55
IGL00756:Dab1	APN	4	104727878	missense	probably benign
IGL02074:Dab1	APN	4	104727854	missense	possibly damaging	0.90
IGL02286:Dab1	APN	4	104680070	missense	probably damaging	1.00
IGL02986:Dab1	APN	4	104479221	missense	probably benign	0.00
IGL03008:Dab1	APN	4	104727580	missense	probably damaging	0.99
IGL03133:Dab1	APN	4	104727580	missense	probably benign	0.41
IGL03375:Dab1	APN	4	104681601	missense	possibly damaging	0.70
LCD18:Dab1	UTSW	4	104046572	intron	probably benign
R0027:Dab1	UTSW	4	104704199	intron	probably benign
R0466:Dab1	UTSW	4	104720550	missense	probably benign	0.15
R0838:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R0840:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R1086:Dab1	UTSW	4	104328572	intron	probably benign
R1598:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R1640:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R1699:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R1749:Dab1	UTSW	4	104328298	intron	probably benign
R1770:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R1846:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R1847:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R1848:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R1885:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R1986:Dab1	UTSW	4	104613215	missense	probably damaging	0.97
R1990:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R2006:Dab1	UTSW	4	104605325	missense	probably damaging	1.00
R2030:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R2032:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R2034:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R2061:Dab1	UTSW	4	104678741	missense	probably damaging	1.00
R2088:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R2089:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R2091:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R2091:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R2092:Dab1	UTSW	4	104678777	missense	probably damaging	1.00
R2193:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R2194:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R2361:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R2362:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R2391:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R2424:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R2865:Dab1	UTSW	4	104680146	missense	probably benign
R3118:Dab1	UTSW	4	104680069	critical splice acceptor site	probably null
R3716:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R3718:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R3740:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R3742:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R3965:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R4057:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R4393:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R4396:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R4418:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R4607:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R4608:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R4648:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R4693:Dab1	UTSW	4	104679553	missense	probably damaging	1.00
R4701:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R4730:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R4760:Dab1	UTSW	4	104732145	missense	probably damaging	1.00
R4927:Dab1	UTSW	4	104704252	missense	probably benign
R5173:Dab1	UTSW	4	104688448	splice site	probably null
R5503:Dab1	UTSW	4	104512264	missense	probably benign	0.01
R6199:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6200:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6207:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6224:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6227:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6228:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6229:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6246:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6247:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6248:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6249:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6250:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6258:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6259:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6260:Dab1	UTSW	4	104731751	missense	probably benign	0.29
R6505:Dab1	UTSW	4	104512264	missense	probably benign	0.01
R6817:Dab1	UTSW	4	104679546	missense	probably damaging	1.00
R7305:Dab1	UTSW	4	104713790	missense
R7709:Dab1	UTSW	4	104720559	nonsense	probably null
R7894:Dab1	UTSW	4	104732138	missense	probably benign	0.03
R8142:Dab1	UTSW	4	104678724	missense	probably damaging	1.00
R8462:Dab1	UTSW	4	104704207	missense	probably benign	0.10
R8472:Dab1	UTSW	4	104479242	missense	possibly damaging	0.89
R9138:Dab1	UTSW	4	104731732	nonsense	probably null
R9311:Dab1	UTSW	4	104512266	critical splice donor site	probably null
RF017:Dab1	UTSW	4	104713652	missense	probably benign	0.01
Z1088:Dab1	UTSW	4	104479232	missense	probably damaging	0.99
Z1176:Dab1	UTSW	4	104728078	missense	probably benign	0.00
Z1177:Dab1	UTSW	4	104727740	missense	probably benign	0.05

Posted On

2011-07-12