|Institutional Source||Beutler Lab|
|Gene Name||disabled 1|
|Is this an essential gene?||Probably essential (E-score: 0.873)|
|Stock #||R4760 (G1)|
|Chromosomal Location||103619359-104744844 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 104732145 bp|
|Amino Acid Change||Serine to Arginine at position 550 (S550R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000102443 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000106830] [ENSMUST00000146078]|
|Predicted Effect||probably damaging
AA Change: S550R
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: S550R
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.19|
|Coding Region Coverage||
|Validation Efficiency||98% (90/92)|
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||
|Other mutations in Dab1||
(F):5'- CTGGTTGCATATGCCGCATG -3'
(R):5'- GAGATAGGGTATCAACATTGGCAAC -3'
(F):5'- GCCGCATGAATATAATCTTAGTTGCC -3'
(R):5'- GGAAAACCTTGCAGGTGA -3'