|Institutional Source||Beutler Lab|
|Gene Name||nudE neurodevelopment protein 1 like 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7043 (G1)|
|Chromosomal Location||68821434-68871858 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 68822624 bp|
|Amino Acid Change||Leucine to Proline at position 329 (L329P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018880 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018880]|
|Predicted Effect||possibly damaging
AA Change: L329P
PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: L329P
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous inactivation of this gene causes peri-implantation lethality. Blastocysts fail to grow in culture and exhibit inner cell mass degeneration. Compound heterozygous mice carrying one null and one hypomorphic allele show mild neuronal migration defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ndel1||
(F):5'- TGATATCGCGCAGAGTCCTG -3'
(R):5'- TAGCTGTGATCCTACTGTGGGTAAG -3'
(F):5'- ATGCAGCCTGCCCTCTG -3'
(R):5'- TCCTACTGTGGGTAAGGAAGAG -3'