|Institutional Source||Beutler Lab|
|Gene Name||dihydropyrimidinase-like 3|
|Synonyms||TUC4, Ulip, Ulip1, CRMP-4|
|Is this an essential gene?||Possibly non essential (E-score: 0.304)|
|Stock #||R5383 (G1)|
|Chromosomal Location||43320979-43438286 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 43438038 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 57 (V57E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000112928 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000121805]|
|Predicted Effect||probably damaging
AA Change: V57E
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V57E
|Meta Mutation Damage Score||0.2328|
|Coding Region Coverage||
|Validation Efficiency||97% (61/63)|
FUNCTION: This gene encodes a protein that belongs to the TUC (TOAD-64/Ulip/CRMP) family of proteins. Members of this family are phosphoproteins that function in axonal guidance and neuronal differentiation during development and regeneration of the nervous system. A mutation in the human gene is associated with amyotrophic lateral sclerosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired axon extension, abnormal neuron growth cones morphology and impaired anterograde transportation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dpysl3||
(F):5'- ACCAAGGTTCTGCAAGACCTC -3'
(R):5'- CTGAAGAAGAAAGCCCCTGAGC -3'
(F):5'- AAGACCTCCTTGCCGGTG -3'
(R):5'- TGTCGCTTGAACCATGGC -3'