|Institutional Source||Beutler Lab|
|Gene Name||dihydropyrimidinase-like 3|
|Synonyms||TUC4, Ulip, Ulip1, CRMP-4|
|Is this an essential gene?||Possibly essential (E-score: 0.563)|
|Stock #||R5152 (G1)|
|Chromosomal Location||43320979-43438286 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 43438080 bp|
|Amino Acid Change||Glycine to Aspartic acid at position 43 (G43D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000112928 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000121805]|
|Predicted Effect||probably benign
AA Change: G43D
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
AA Change: G43D
|Meta Mutation Damage Score||0.102|
|Coding Region Coverage||
|Validation Efficiency||99% (83/84)|
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'- CCAAGGTTCTGCAAGACCTC -3'
(R):5'- CCTCTGAAGAAGAAAGCCCCTG -3'
(F):5'- AAGACCTCCTTGCCGGTG -3'
(R):5'- GAAGAAAGCCCCTGAGCCG -3'